id	category	name	description	provided_by
IAO:0000594	biolink:NamedThing	software application		DOVES_relaxed.owl
owl:Thing	biolink:NamedThing			DOVES_relaxed.owl
https://purl.org/doves/e849bada-9fc3-4799-b3d4-625dc79093f4	biolink:NamedThing	digital medicine application outcome	A Digital Medicine Application Outcome is an outcome that associated with developent, use, or of application of, a digital medicine application.	DOVES_relaxed.owl
https://purl.org/doves/78ceb509-e44b-4d8c-bd47-b457f9d835cb	biolink:NamedThing	refining value	A value that can be used to refine the description of a digital medicine application	DOVES_relaxed.owl
MONDO:0000001	biolink:NamedThing	disease	A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism.	DOVES_relaxed.owl
MONDO:0021125	biolink:NamedThing	disease characteristic	An attribute of a disease.	DOVES_relaxed.owl
MONDO:0042489	biolink:NamedThing	disease susceptibility	A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.	DOVES_relaxed.owl
http://purl.org/doves/e63990da-3423-41df-ab19-98af4cec86c7	biolink:NamedThing	OBO:GSSO_002199	Race is a Refining Value defined as a social construct meant to group people according to common, visible physical traits.   Categories of race follow guidance from the United States Census Bureau as of Aug 4, 2021. https://www.census.gov/newsroom/blogs/random-samplings/2021/08/measuring-racial-ethnic-diversity-2020-census.html	DOVES_relaxed.owl
http://purl.org/doves/efe61c04_f9aa_484c_846c_d7ee7cb02f58	biolink:NamedThing	gender	Gender is a Refining Value that refers to the characteristics of women, men, girls and boys that are socially constructed.  This includes norms, behaviours and roles associated with being a woman, man, girl or boy, as well as relationships with each other. As a social construct, gender varies from society to society and can change over time.  Gender is hierarchical and produces inequalities that intersect with other social and economic inequalities.   Gender interacts with but is different from sex, which refers to the different biological and physiological characteristics of females, males and intersex persons, such as chromosomes, hormones and reproductive organs. Gender and sex are related to but different from gender identity. Gender identity refers to a person’s deeply felt, internal and individual experience of gender, which may or may not correspond to the person’s physiology or designated sex at birth. Source: https://www.who.int/health-topics/gender#tab=tab_1	DOVES_relaxed.owl
http://purl.org/doves/doves-ontology#Electronic_Health_Record_Integration_Outcome	biolink:NamedThing	EHR integration	EHR Integration is a Refining Value that describes the types of electronic health record (EHR) platforms with which the digital health application integrates, including "not applicable" or "none."	DOVES_relaxed.owl
http://purl.org/doves/doves-ontology#Ethnicity	biolink:NamedThing	ethnicity	Ethnicity is a Refining Value defined according to the United States Census Bureai Aug 4, 2021 https://www.census.gov/newsroom/blogs/random-samplings/2021/08/measuring-racial-ethnic-diversity-2020-census.html	DOVES_relaxed.owl
http://purl.org/doves/doves-ontology#HIE_Integration	biolink:NamedThing	health information exchange integration	HIE Integration is a Refining Value that describes a digital medicine application's integration with Health Information Exchanges (HIEs).	DOVES_relaxed.owl
http://purl.org/doves/doves-ontology#Regulatory_Approval	biolink:NamedThing	regulatory approval status	Regulatory Approval is a Refining Value that refers to government regulated approval for safety and efficacy of a digital medicine application or software as a medical device.	DOVES_relaxed.owl
http://purl.org/doves/doves-ontology#Regulatory_Category	biolink:NamedThing	regulatory category	Regulatory Category is a Refining Value that describes in rough terms, the appropriate category label for a digital application that pertains to health, according to definitions proposed in the white paper put out November 7, 2019 by the Digital Medicine (DiME) Society, the Digital Therapeutics Alliance, HealthXL, and NODE.Health. Source: https://www.healthxl.com/blog/digital-health-digital-medicine-digital-therapeutics-dtx-whats-the-difference	DOVES_relaxed.owl
http://purl.org/doves/doves-ontology#Setting	biolink:NamedThing	setting	Setting is a Refining Value that describes the clinical setting for which a digital medicine or digital therapeutic application is intended.	DOVES_relaxed.owl
https://purl.org/doves/ccf65a8d-246e-43d7-b378-c840c50a5f36	biolink:NamedThing	peri-procedural stage	Peri-procedural Stage is a Refining Value that describes a stage of preparation or recovery around a surgical procedure. A periprocedural action occurs soon before, during, or soon after the performance of a procedure.	DOVES_relaxed.owl
https://purl.org/doves/d7fdedbd-6d0d-4d67-bd98-03f4c80c944b	biolink:NamedThing	age group	Age Group is a Refining Value that describes the age category(ies) of a digital medicine application's users.	DOVES_relaxed.owl
https://purl.org/doves/e8a3913a-2e3c-42c6-b662-a35736ffcada	biolink:NamedThing	increased accuracy	Increased Accuracy is a Refining Value that describes the level and type of accuracy measurement for a digital health product that is intended to improve accuracy.	DOVES_relaxed.owl
https://purl.org/doves/01d40506-2d2f-4237-a87b-229e268c2f14	biolink:NamedThing	person	A Person is a Refining Value defined as an individual human being.	DOVES_relaxed.owl
https://purl.org/doves/1ce5511a-c36f-4fb4-97a6-8e1b0642a27d	biolink:NamedThing	technical capability	Technical Capability Area is a Refining Value describing major technical categories of digital medicine or therapeutic products.	DOVES_relaxed.owl
https://purl.org/doves/1d62d176-3b08-4743-819c-ba79585f3a38	biolink:NamedThing	medical specialty	Medical Specialty is a Refining Value a defined as a branch of medical practice that is focused on a defined group of patients, diseases, skills, or philosophy. Source: https://en.wikipedia.org/wiki/Medical_specialty	DOVES_relaxed.owl
https://purl.org/doves/38552094-2ddf-4e81-b33d-080f5b904cd7	biolink:NamedThing	role	Role is a Refining Value that describes the user type of a digital medicine application.	DOVES_relaxed.owl
https://purl.org/doves/42032214-7b35-46e0-98f9-cd903d8fd464	biolink:NamedThing	evidence	Evidence is a Refining Value that describes the level or class of evidence of a digital medicine application. Classes of evidence may be categorized on a I-IV basis and iformed by different study designs such as randomized controlled trial, or cohort studies, or case series for example. Source: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3838756/	DOVES_relaxed.owl
https://purl.org/doves/8a734e84-af0d-4ad3-9379-51414e0e06d7	biolink:NamedThing	duration	Duration is a Refining Value that describes how long something lasts or how long it is in place.	DOVES_relaxed.owl
https://purl.org/doves/81955a73-7b46-4cb4-bbae-5c34311aa8a0	biolink:NamedThing	sex assigned at birth	Sex Assigned at Birth is a Refining Value defined according to the categories specified by the Office of the National Coordinator for Health Information Technology as specified in the UCSDI standards to describe the sex of an individual as assigned to them on birth. Source: https://www.healthit.gov/isa/uscdi-data/sex-assigned-birth	DOVES_relaxed.owl
https://purl.org/doves/8773470f-b184-4f06-84ed-fcb2a1108574	biolink:NamedThing	clinical process		DOVES_relaxed.owl
https://purl.org/doves/894b0e16-237d-40f2-87f0-adaa02cab8c8	biolink:NamedThing	technology	Technology is a Refining Value that describes the tecnology or technologies used by a digital medicine or therapeutic application.	DOVES_relaxed.owl
MONDO:0000004	biolink:NamedThing	adrenocortical insufficiency	An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).	DOVES_relaxed.owl
MONDO:0002816	biolink:NamedThing	adrenal cortex disorder	A disease involving the adrenal cortex.	DOVES_relaxed.owl
MONDO:0006640	biolink:NamedThing	adrenal gland hyperfunction	Excess production of adrenal cortex hormones.	DOVES_relaxed.owl
MONDO:0036591	biolink:NamedThing	adrenal cortex neoplasm	A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)	DOVES_relaxed.owl
MONDO:0000005	biolink:NamedThing	alopecia, isolated		DOVES_relaxed.owl
MONDO:0021034	biolink:NamedThing	genetic alopecia	An instance of alopecia that is caused by a modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0007085	biolink:NamedThing	alopecia-epilepsy-pyorrhea-intellectual disability syndrome	Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0007805	biolink:NamedThing	hypotrichosis 2	Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene.	DOVES_relaxed.owl
MONDO:0008756	biolink:NamedThing	alopecia - intellectual disability syndrome	An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.	DOVES_relaxed.owl
MONDO:0010206	biolink:NamedThing	hypotrichosis 8	Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene.	DOVES_relaxed.owl
MONDO:0010922	biolink:NamedThing	Satoyoshi syndrome	Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system.	DOVES_relaxed.owl
MONDO:0011218	biolink:NamedThing	autosomal recessive congenital ichthyosis 11		DOVES_relaxed.owl
MONDO:0011452	biolink:NamedThing	hypotrichosis 7	Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene.	DOVES_relaxed.owl
MONDO:0011549	biolink:NamedThing	hypotrichosis 1	Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene.	DOVES_relaxed.owl
MONDO:0011899	biolink:NamedThing	Noonan syndrome-like disorder with loose anagen hair	Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.	DOVES_relaxed.owl
MONDO:0011932	biolink:NamedThing	hypotrichosis 6	Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene.	DOVES_relaxed.owl
MONDO:0012794	biolink:NamedThing	ANE syndrome	ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.	DOVES_relaxed.owl
MONDO:0013268	biolink:NamedThing	frontonasal dysplasia with alopecia and genital anomaly	Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.	DOVES_relaxed.owl
MONDO:0013514	biolink:NamedThing	hypotrichosis 3	Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene.	DOVES_relaxed.owl
MONDO:0013649	biolink:NamedThing	hypotrichosis 9	A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.	DOVES_relaxed.owl
MONDO:0013650	biolink:NamedThing	hypotrichosis 10	A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.	DOVES_relaxed.owl
MONDO:0014027	biolink:NamedThing	hypotrichosis 11	Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene.	DOVES_relaxed.owl
MONDO:0014384	biolink:NamedThing	hypotrichosis 12	Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.	DOVES_relaxed.owl
MONDO:0014608	biolink:NamedThing	mandibulofacial dysostosis with alopecia	A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.	DOVES_relaxed.owl
MONDO:0018657	biolink:NamedThing	pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome		DOVES_relaxed.owl
MONDO:0022113	biolink:NamedThing	central centrifugal cicatricial alopecia		DOVES_relaxed.owl
MONDO:0023043	biolink:NamedThing	ectodermal dysplasia alopecia preaxial polydactyly		DOVES_relaxed.owl
MONDO:0800198	biolink:NamedThing	alopecia universalis		DOVES_relaxed.owl
MONDO:0000009	biolink:NamedThing	inherited bleeding disorder, platelet-type		DOVES_relaxed.owl
MONDO:0002243	biolink:NamedThing	hemorrhagic disease	Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders).	DOVES_relaxed.owl
MONDO:0002244	biolink:NamedThing	factor VII deficiency	A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.	DOVES_relaxed.owl
MONDO:0002247	biolink:NamedThing	factor X deficiency	A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood.	DOVES_relaxed.owl
MONDO:0002610	biolink:NamedThing	purpura	A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.	DOVES_relaxed.owl
MONDO:0003159	biolink:NamedThing	vascular hemostatic disease	Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets.	DOVES_relaxed.owl
MONDO:0009210	biolink:NamedThing	congenital factor V deficiency	Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.	DOVES_relaxed.owl
MONDO:0009234	biolink:NamedThing	congenital high-molecular-weight kininogen deficiency	A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.	DOVES_relaxed.owl
MONDO:0009315	biolink:NamedThing	congenital factor XII deficiency	Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.	DOVES_relaxed.owl
MONDO:0009883	biolink:NamedThing	alpha-2-plasmin inhibitor deficiency	Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0010602	biolink:NamedThing	hemophilia A	The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.	DOVES_relaxed.owl
MONDO:0010604	biolink:NamedThing	hemophilia B	Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.	DOVES_relaxed.owl
MONDO:0011615	biolink:NamedThing	East Texas bleeding disorder		DOVES_relaxed.owl
MONDO:0012897	biolink:NamedThing	congenital factor XI deficiency	Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.	DOVES_relaxed.owl
MONDO:0012901	biolink:NamedThing	inherited prekallikrein deficiency	An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0013227	biolink:NamedThing	congenital plasminogen activator inhibitor type 1 deficiency	Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.	DOVES_relaxed.owl
MONDO:0013775	biolink:NamedThing	thrombomodulin-related bleeding disorder		DOVES_relaxed.owl
MONDO:0015722	biolink:NamedThing	congenital vitamin K-dependent coagulation factors deficiency	Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors.	DOVES_relaxed.owl
MONDO:0015801	biolink:NamedThing	hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation		DOVES_relaxed.owl
MONDO:0017837	biolink:NamedThing	multiple sclerosis-ichthyosis-factor VIII deficiency syndrome	Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.	DOVES_relaxed.owl
MONDO:0018029	biolink:NamedThing	congenital factor XIII deficiency	Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.	DOVES_relaxed.owl
MONDO:0018060	biolink:NamedThing	congenital fibrinogen deficiency	Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).	DOVES_relaxed.owl
MONDO:0018175	biolink:NamedThing	combined deficiency of factor V and factor VIII	Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.	DOVES_relaxed.owl
MONDO:0019139	biolink:NamedThing	acquired hemophilia	Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications.	DOVES_relaxed.owl
MONDO:0019415	biolink:NamedThing	fetal and neonatal alloimmune thrombocytopenia	Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids.	DOVES_relaxed.owl
MONDO:0019565	biolink:NamedThing	hereditary von Willebrand disease	Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).	DOVES_relaxed.owl
MONDO:0020460	biolink:NamedThing	acquired von willebrand syndrome	Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.	DOVES_relaxed.owl
MONDO:0024307	biolink:NamedThing	prothrombin deficiency		DOVES_relaxed.owl
MONDO:0850054	biolink:NamedThing	hemophilia B leyden		DOVES_relaxed.owl
MONDO:0002245	biolink:NamedThing	blood platelet disease	Disorders caused by abnormalities in platelet count or function.	DOVES_relaxed.owl
MONDO:0001197	biolink:NamedThing	qualitative platelet defect		DOVES_relaxed.owl
MONDO:0002049	biolink:NamedThing	thrombocytopenia	A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood.	DOVES_relaxed.owl
MONDO:0002249	biolink:NamedThing	thrombocytosis disease	A disease characterized by higher than normal platelet counts in the peripheral blood.	DOVES_relaxed.owl
MONDO:0100487	biolink:NamedThing	TPM4-related platelet disorder	A platelet disorder in which the cause of the disease is a variant in the TPM4 gene.	DOVES_relaxed.owl
MONDO:0003847	biolink:NamedThing	hereditary disease	A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.	DOVES_relaxed.owl
MONDO:0000032	biolink:NamedThing	febrile seizures, familial		DOVES_relaxed.owl
MONDO:0000044	biolink:NamedThing	hereditary hypophosphatemic rickets	Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.	DOVES_relaxed.owl
MONDO:0000045	biolink:NamedThing	hypothyroidism, congenital, nongoitrous		DOVES_relaxed.owl
MONDO:0000062	biolink:NamedThing	isolated microphthalmia	A microphthalmia that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0000104	biolink:NamedThing	anemia, hypochromic microcytic with iron overload		DOVES_relaxed.owl
MONDO:0000111	biolink:NamedThing	camptodactyly syndrome, Guadalajara		DOVES_relaxed.owl
MONDO:0000114	biolink:NamedThing	cerebelloparenchymal disorder		DOVES_relaxed.owl
MONDO:0000115	biolink:NamedThing	Chiari malformation	A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.	DOVES_relaxed.owl
MONDO:0000137	biolink:NamedThing	leukoencephalopathy, megalencephalic		DOVES_relaxed.owl
MONDO:0000148	biolink:NamedThing	pulmonary fibrosis and/or bone marrow failure, telomere-related		DOVES_relaxed.owl
MONDO:0000158	biolink:NamedThing	developmental dysplasia of the hip	A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation.	DOVES_relaxed.owl
MONDO:0000159	biolink:NamedThing	bone marrow failure syndrome		DOVES_relaxed.owl
MONDO:0000166	biolink:NamedThing	encephalopathy, acute, infection-induced		DOVES_relaxed.owl
MONDO:0000172	biolink:NamedThing	muscular dystrophy-dystroglycanopathy, type B		DOVES_relaxed.owl
MONDO:0000173	biolink:NamedThing	muscular dystrophy-dystroglycanopathy, type C		DOVES_relaxed.owl
MONDO:0000192	biolink:NamedThing	polyglucosan body myopathy		DOVES_relaxed.owl
MONDO:0000200	biolink:NamedThing	Zimmermann-Laband syndrome	Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.	DOVES_relaxed.owl
MONDO:0000213	biolink:NamedThing	autoimmune disease, multisystem, infantile-onset		DOVES_relaxed.owl
MONDO:0000334	biolink:NamedThing	multinodular goiter	Nodular goiter characterized by more than one discrete tissue mass.	DOVES_relaxed.owl
MONDO:0000355	biolink:NamedThing	Ullrich congenital muscular dystrophy	Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.	DOVES_relaxed.owl
MONDO:0000358	biolink:NamedThing	orofacial cleft		DOVES_relaxed.owl
MONDO:0000389	biolink:NamedThing	atelosteogenesis		DOVES_relaxed.owl
MONDO:0000425	biolink:NamedThing	X-linked disease	X-linked form of disease.	DOVES_relaxed.owl
MONDO:0000428	biolink:NamedThing	Y-linked disease	Y-linked form of disease.	DOVES_relaxed.owl
MONDO:0000429	biolink:NamedThing	autosomal genetic disease	A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.	DOVES_relaxed.owl
MONDO:0000453	biolink:NamedThing	short QT syndrome	A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified	DOVES_relaxed.owl
MONDO:0000700	biolink:NamedThing	familial hemiplegic migraine	A migraine disorder characterized by individual and family history of aura that includes motor weakness.	DOVES_relaxed.owl
MONDO:0000723	biolink:NamedThing	stutter disorder	A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age.	DOVES_relaxed.owl
MONDO:0000724	biolink:NamedThing	specific language impairment	A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.	DOVES_relaxed.owl
MONDO:0000733	biolink:NamedThing	cornea plana		DOVES_relaxed.owl
MONDO:0000819	biolink:NamedThing	anencephaly	A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.	DOVES_relaxed.owl
MONDO:0000824	biolink:NamedThing	congenital diarrhea		DOVES_relaxed.owl
MONDO:0000904	biolink:NamedThing	complex cortical dysplasia with other brain malformations		DOVES_relaxed.owl
MONDO:0001029	biolink:NamedThing	Klippel-Feil syndrome	A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.	DOVES_relaxed.owl
MONDO:0001115	biolink:NamedThing	familial polycythemia	Polycythemia that occurs in groups of related individuals.	DOVES_relaxed.owl
MONDO:0001347	biolink:NamedThing	facioscapulohumeral muscular dystrophy	An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.	DOVES_relaxed.owl
MONDO:0001384	biolink:NamedThing	myopia	The condition in which the individual does not see far distances clearly.	DOVES_relaxed.owl
MONDO:0001490	biolink:NamedThing	corneal granular dystrophy	A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene.	DOVES_relaxed.owl
MONDO:0001713	biolink:NamedThing	inherited aplastic anemia	An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.	DOVES_relaxed.owl
MONDO:0002010	biolink:NamedThing	FG syndrome	FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential.	DOVES_relaxed.owl
MONDO:0002070	biolink:NamedThing	ventricular septal defect	The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired.	DOVES_relaxed.owl
MONDO:0003037	biolink:NamedThing	hypotrichosis	A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body.	DOVES_relaxed.owl
MONDO:0003233	biolink:NamedThing	essential tremor	A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)	DOVES_relaxed.owl
MONDO:0003689	biolink:NamedThing	familial hemolytic anemia	A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.	DOVES_relaxed.owl
MONDO:0004166	biolink:NamedThing	hereditary fallopian tube carcinoma	Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma.	DOVES_relaxed.owl
MONDO:0004587	biolink:NamedThing	hereditary night blindness	An instance of night blindness that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0004822	biolink:NamedThing	bronchiectasis	Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection.	DOVES_relaxed.owl
MONDO:0004914	biolink:NamedThing	celiac artery stenosis from compression by median arcuate ligament of diaphragm	A syndromic disease that involves the median arcuate ligament.	DOVES_relaxed.owl
MONDO:0004933	biolink:NamedThing	hypoplastic left heart syndrome	Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.	DOVES_relaxed.owl
MONDO:0004983	biolink:NamedThing	spermatogenic failure	A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa.	DOVES_relaxed.owl
MONDO:0005129	biolink:NamedThing	cataract	Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)	DOVES_relaxed.owl
MONDO:0005130	biolink:NamedThing	celiac disease	An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet.	DOVES_relaxed.owl
MONDO:0005180	biolink:NamedThing	Parkinson disease	A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.	DOVES_relaxed.owl
MONDO:0005217	biolink:NamedThing	familial cardiomyopathy	An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0005265	biolink:NamedThing	inflammatory bowel disease	A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type.	DOVES_relaxed.owl
MONDO:0005281	biolink:NamedThing	gallbladder disorder	A disease involving the gall bladder.	DOVES_relaxed.owl
MONDO:0005308	biolink:NamedThing	ciliopathy	A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.	DOVES_relaxed.owl
MONDO:0005321	biolink:NamedThing	Fuchs' endothelial dystrophy	Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.	DOVES_relaxed.owl
MONDO:0005345	biolink:NamedThing	hypospadias	Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce.	DOVES_relaxed.owl
MONDO:0005382	biolink:NamedThing	bone Paget disease	A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue.	DOVES_relaxed.owl
MONDO:0005445	biolink:NamedThing	visceral leishmaniasis	A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anaemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi.	DOVES_relaxed.owl
MONDO:0005486	biolink:NamedThing	tooth agenesis	A rare developmental dental anomaly in humans characterized by the absence of six or more teeth.	DOVES_relaxed.owl
MONDO:0005711	biolink:NamedThing	congenital diaphragmatic hernia	A posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.	DOVES_relaxed.owl
MONDO:0005712	biolink:NamedThing	congenital nystagmus	Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)	DOVES_relaxed.owl
MONDO:0006248	biolink:NamedThing	hydatidiform mole	A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes.	DOVES_relaxed.owl
MONDO:0006664	biolink:NamedThing	atrial septal defect	Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.	DOVES_relaxed.owl
MONDO:0006761	biolink:NamedThing	fibromuscular dysplasia	A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation.	DOVES_relaxed.owl
MONDO:0007031	biolink:NamedThing	familial abdominal aortic aneurysm	An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0007036	biolink:NamedThing	Achard syndrome	A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet.	DOVES_relaxed.owl
MONDO:0007038	biolink:NamedThing	Achoo syndrome		DOVES_relaxed.owl
MONDO:0007049	biolink:NamedThing	acroleukopathy, symmetric		DOVES_relaxed.owl
MONDO:0007050	biolink:NamedThing	acromegaloid changes, cutis verticis gyrata, and corneal leukoma		DOVES_relaxed.owl
MONDO:0007054	biolink:NamedThing	acromial dimples		DOVES_relaxed.owl
MONDO:0007066	biolink:NamedThing	adenosine triphosphatase deficiency, anemia due to		DOVES_relaxed.owl
MONDO:0007090	biolink:NamedThing	amastia, bilateral, with ureteral triplication and dysmorphism		DOVES_relaxed.owl
MONDO:0007091	biolink:NamedThing	amelia and terminal transverse hemimelia		DOVES_relaxed.owl
MONDO:0007096	biolink:NamedThing	amenorrhea-galactorrhea syndrome		DOVES_relaxed.owl
MONDO:0007102	biolink:NamedThing	amyotrophic dystonic paraplegia		DOVES_relaxed.owl
MONDO:0007106	biolink:NamedThing	anal sphincter dysplasia		DOVES_relaxed.owl
MONDO:0007107	biolink:NamedThing	anal sphincter myopathy, internal		DOVES_relaxed.owl
MONDO:0007119	biolink:NamedThing	isolated aniridia	Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.	DOVES_relaxed.owl
MONDO:0007121	biolink:NamedThing	aniridia, microcornea, and spontaneously Reabsorbed cataract		DOVES_relaxed.owl
MONDO:0007122	biolink:NamedThing	anisocoria	Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease.	DOVES_relaxed.owl
MONDO:0007125	biolink:NamedThing	ankyloglossia	A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth.	DOVES_relaxed.owl
MONDO:0007128	biolink:NamedThing	annular erythema		DOVES_relaxed.owl
MONDO:0007132	biolink:NamedThing	anonychia-ectrodactyly		DOVES_relaxed.owl
MONDO:0007133	biolink:NamedThing	anonychia-onychodystrophy with brachydactyly type b and ectrodactyly		DOVES_relaxed.owl
MONDO:0007144	biolink:NamedThing	aortic arch interruption, facial palsy, and retinal coloboma		DOVES_relaxed.owl
MONDO:0007150	biolink:NamedThing	arcus senilis	A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera.	DOVES_relaxed.owl
MONDO:0007151	biolink:NamedThing	arms, malformation of		DOVES_relaxed.owl
MONDO:0007153	biolink:NamedThing	arteries, anomalies of		DOVES_relaxed.owl
MONDO:0007155	biolink:NamedThing	arteritis, familial granulomatous, with juvenile polyarthritis		DOVES_relaxed.owl
MONDO:0007156	biolink:NamedThing	arthritis, sacroiliac		DOVES_relaxed.owl
MONDO:0007162	biolink:NamedThing	asymmetric short stature syndrome		DOVES_relaxed.owl
MONDO:0007175	biolink:NamedThing	PR interval, variation in		DOVES_relaxed.owl
MONDO:0007178	biolink:NamedThing	aurocephalosyndactyly		DOVES_relaxed.owl
MONDO:0007180	biolink:NamedThing	Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities		DOVES_relaxed.owl
MONDO:0007183	biolink:NamedThing	azotemia, familial		DOVES_relaxed.owl
MONDO:0007186	biolink:NamedThing	gastroesophageal reflux disease	A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa.	DOVES_relaxed.owl
MONDO:0007192	biolink:NamedThing	beta-amino acids, renal transport of		DOVES_relaxed.owl
MONDO:0007197	biolink:NamedThing	bladder diverticulum		DOVES_relaxed.owl
MONDO:0007199	biolink:NamedThing	blepharochalasis, superior		DOVES_relaxed.owl
MONDO:0007206	biolink:NamedThing	bone pain, periodic		DOVES_relaxed.owl
MONDO:0007210	biolink:NamedThing	Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay		DOVES_relaxed.owl
MONDO:0007228	biolink:NamedThing	brachymesomelia-renal syndrome		DOVES_relaxed.owl
MONDO:0007229	biolink:NamedThing	Brachymetatarsus 4		DOVES_relaxed.owl
MONDO:0007234	biolink:NamedThing	branchial myoclonus with spastic paraparesis and cerebellar ataxia		DOVES_relaxed.owl
MONDO:0007237	biolink:NamedThing	familial juvenile hypertrophy of the breast	Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.	DOVES_relaxed.owl
MONDO:0007241	biolink:NamedThing	bundle branch block, familial isolated complete right		DOVES_relaxed.owl
MONDO:0007242	biolink:NamedThing	butyrylesterase 1		DOVES_relaxed.owl
MONDO:0007246	biolink:NamedThing	calcific aortic disease with immunologic abnormalities, familial		DOVES_relaxed.owl
MONDO:0007253	biolink:NamedThing	cancer, familial, with in vitro Radioresistance		DOVES_relaxed.owl
MONDO:0007258	biolink:NamedThing	canine teeth, absence of upper permanent		DOVES_relaxed.owl
MONDO:0007260	biolink:NamedThing	Car factor deficiency		DOVES_relaxed.owl
MONDO:0007261	biolink:NamedThing	Carabelli anomaly of maxillary molar teeth		DOVES_relaxed.owl
MONDO:0007274	biolink:NamedThing	carpal displacement		DOVES_relaxed.owl
MONDO:0007302	biolink:NamedThing	cervical hypertrichosis with underlying kyphoscoliosis		DOVES_relaxed.owl
MONDO:0007303	biolink:NamedThing	cervical rib disease	A rib that is attached to a cervical vertebra or enlarged transverse processes.	DOVES_relaxed.owl
MONDO:0007304	biolink:NamedThing	cervical vertebral Bridge		DOVES_relaxed.owl
MONDO:0007305	biolink:NamedThing	cervical vertebral dysplasia		DOVES_relaxed.owl
MONDO:0007314	biolink:NamedThing	chemodectoma, intraabdominal, with cutaneous angiolipomas		DOVES_relaxed.owl
MONDO:0007323	biolink:NamedThing	Chondronectin		DOVES_relaxed.owl
MONDO:0007325	biolink:NamedThing	choreoathetosis, familial inverted		DOVES_relaxed.owl
MONDO:0007328	biolink:NamedThing	choroidal osteoma, bilateral		DOVES_relaxed.owl
MONDO:0007329	biolink:NamedThing	cirrhosis, familial	Cirrhosis in which no causative agent can be identified.	DOVES_relaxed.owl
MONDO:0007344	biolink:NamedThing	cluster headache, familial	An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0007354	biolink:NamedThing	coloboma of optic nerve		DOVES_relaxed.owl
MONDO:0007357	biolink:NamedThing	colonic varices without portal hypertension		DOVES_relaxed.owl
MONDO:0007358	biolink:NamedThing	comedones, familial Dyskeratotic		DOVES_relaxed.owl
MONDO:0007359	biolink:NamedThing	commissural lip pits		DOVES_relaxed.owl
MONDO:0007370	biolink:NamedThing	coracoclavicular joint, anomalous		DOVES_relaxed.owl
MONDO:0007371	biolink:NamedThing	cornea guttata with anterior polar cataracts		DOVES_relaxed.owl
MONDO:0007373	biolink:NamedThing	corneal degeneration, ribbonlike, with deafness		DOVES_relaxed.owl
MONDO:0007379	biolink:NamedThing	Meesmann corneal dystrophy	Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.	DOVES_relaxed.owl
MONDO:0007390	biolink:NamedThing	coumarin resistance		DOVES_relaxed.owl
MONDO:0007391	biolink:NamedThing	coxa vara	Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.	DOVES_relaxed.owl
MONDO:0007393	biolink:NamedThing	cranioacrofacial syndrome		DOVES_relaxed.owl
MONDO:0007402	biolink:NamedThing	creatine phosphokinase, elevated serum		DOVES_relaxed.owl
MONDO:0007406	biolink:NamedThing	cryofibrinogenemia, familial primary		DOVES_relaxed.owl
MONDO:0007408	biolink:NamedThing	cryptotia, familial		DOVES_relaxed.owl
MONDO:0007418	biolink:NamedThing	Darwinian tubercle of pinna		DOVES_relaxed.owl
MONDO:0007421	biolink:NamedThing	deafness-ear malformation-facial palsy syndrome	Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.	DOVES_relaxed.owl
MONDO:0007423	biolink:NamedThing	deafness, mid-tone neural		DOVES_relaxed.owl
MONDO:0007425	biolink:NamedThing	deafness, sensorineural, with peripheral neuropathy and arterial disease		DOVES_relaxed.owl
MONDO:0007426	biolink:NamedThing	deafness, unilateral		DOVES_relaxed.owl
MONDO:0007427	biolink:NamedThing	deafness with anhidrotic ectodermal dysplasia		DOVES_relaxed.owl
MONDO:0007430	biolink:NamedThing	dens evaginatus		DOVES_relaxed.owl
MONDO:0007431	biolink:NamedThing	dens in dente and palatal invaginations		DOVES_relaxed.owl
MONDO:0007433	biolink:NamedThing	dementia/parkinsonism with non-Alzheimer amyloid plaques		DOVES_relaxed.owl
MONDO:0007434	biolink:NamedThing	primary failure of tooth eruption		DOVES_relaxed.owl
MONDO:0007436	biolink:NamedThing	dentin dysplasia type I	Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.	DOVES_relaxed.owl
MONDO:0007437	biolink:NamedThing	dentin dysplasia type II	Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition.	DOVES_relaxed.owl
MONDO:0007438	biolink:NamedThing	dentin dysplasia-sclerotic bones syndrome	Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.	DOVES_relaxed.owl
MONDO:0007439	biolink:NamedThing	deoxyribose-5-phosphate aldolase deficiency		DOVES_relaxed.owl
MONDO:0007440	biolink:NamedThing	major affective disorder 1		DOVES_relaxed.owl
MONDO:0007441	biolink:NamedThing	dentinogenesis imperfecta type 2	Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.	DOVES_relaxed.owl
MONDO:0007442	biolink:NamedThing	dentinogenesis imperfecta type 3	Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).	DOVES_relaxed.owl
MONDO:0007444	biolink:NamedThing	dermal Ridges, patternless		DOVES_relaxed.owl
MONDO:0007456	biolink:NamedThing	diarrhea, glucose-stimulated secretory, with common variable immunodeficiency		DOVES_relaxed.owl
MONDO:0007457	biolink:NamedThing	diastema, dental medial		DOVES_relaxed.owl
MONDO:0007459	biolink:NamedThing	dilution, pigmentary		DOVES_relaxed.owl
MONDO:0007460	biolink:NamedThing	discrimination, Two-point, reduction 1N		DOVES_relaxed.owl
MONDO:0007463	biolink:NamedThing	distal osteosclerosis		DOVES_relaxed.owl
MONDO:0007465	biolink:NamedThing	distichiasis with congenital anomalies of the heart and peripheral vasculature		DOVES_relaxed.owl
MONDO:0007466	biolink:NamedThing	DNA, satellite, 3		DOVES_relaxed.owl
MONDO:0007467	biolink:NamedThing	DNA, low-repetitive sequences of		DOVES_relaxed.owl
MONDO:0007469	biolink:NamedThing	double nail for fifth toe		DOVES_relaxed.owl
MONDO:0007473	biolink:NamedThing	Duane retraction syndrome	Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.	DOVES_relaxed.owl
MONDO:0007474	biolink:NamedThing	duodenal ulcer due to antral G-cell hyperfunction		DOVES_relaxed.owl
MONDO:0007475	biolink:NamedThing	duodenal ulcer, hyperpepsinogenemic 1		DOVES_relaxed.owl
MONDO:0007479	biolink:NamedThing	dwarfism, Levi type		DOVES_relaxed.owl
MONDO:0007480	biolink:NamedThing	dwarfism with stiff joints and ocular abnormalities		DOVES_relaxed.owl
MONDO:0007491	biolink:NamedThing	dystelephalangy		DOVES_relaxed.owl
MONDO:0007497	biolink:NamedThing	ear antitragus, tag at base of		DOVES_relaxed.owl
MONDO:0007498	biolink:NamedThing	ear exostoses		DOVES_relaxed.owl
MONDO:0007499	biolink:NamedThing	ear folding		DOVES_relaxed.owl
MONDO:0007500	biolink:NamedThing	ear malformation		DOVES_relaxed.owl
MONDO:0007501	biolink:NamedThing	preauricular fistulae, congenital		DOVES_relaxed.owl
MONDO:0007502	biolink:NamedThing	ear pits, posterior helical		DOVES_relaxed.owl
MONDO:0007504	biolink:NamedThing	thickened earlobes-conductive deafness syndrome	Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.	DOVES_relaxed.owl
MONDO:0007505	biolink:NamedThing	earring holes, natural		DOVES_relaxed.owl
MONDO:0007512	biolink:NamedThing	ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet		DOVES_relaxed.owl
MONDO:0007513	biolink:NamedThing	ectodermal dysplasia with adrenal cyst		DOVES_relaxed.owl
MONDO:0007515	biolink:NamedThing	ectopia pupillae		DOVES_relaxed.owl
MONDO:0007516	biolink:NamedThing	ectrodactyly and ectodermal dysplasia without cleft lip/palate		DOVES_relaxed.owl
MONDO:0007517	biolink:NamedThing	ectrodactyly-cleft palate syndrome		DOVES_relaxed.owl
MONDO:0007518	biolink:NamedThing	edema, familial idiopathic, prepubertal		DOVES_relaxed.owl
MONDO:0007530	biolink:NamedThing	electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon		DOVES_relaxed.owl
MONDO:0007531	biolink:NamedThing	electroencephalographic peculiarity: fronto-precentral beta wave groups		DOVES_relaxed.owl
MONDO:0007535	biolink:NamedThing	emphysema, hereditary pulmonary		DOVES_relaxed.owl
MONDO:0007543	biolink:NamedThing	enolase, sperm specific		DOVES_relaxed.owl
MONDO:0007544	biolink:NamedThing	eosinophilia, familial	Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors.	DOVES_relaxed.owl
MONDO:0007545	biolink:NamedThing	Eosinophilopenia		DOVES_relaxed.owl
MONDO:0007547	biolink:NamedThing	epidermoid cysts	The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule.	DOVES_relaxed.owl
MONDO:0007553	biolink:NamedThing	epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase		DOVES_relaxed.owl
MONDO:0007557	biolink:NamedThing	epidermolysis bullosa with congenital localized absence of skin and deformity of nails		DOVES_relaxed.owl
MONDO:0007569	biolink:NamedThing	erythema nodosum, familial		DOVES_relaxed.owl
MONDO:0007577	biolink:NamedThing	esophageal ring, lower		DOVES_relaxed.owl
MONDO:0007581	biolink:NamedThing	exchondrosis of pinna, posterior		DOVES_relaxed.owl
MONDO:0007584	biolink:NamedThing	exostoses-anetodermia-brachydactyly type E syndrome	Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.	DOVES_relaxed.owl
MONDO:0007593	biolink:NamedThing	facial spasm		DOVES_relaxed.owl
MONDO:0007597	biolink:NamedThing	factor VIII and Factor IX, combined deficiency of		DOVES_relaxed.owl
MONDO:0007598	biolink:NamedThing	factors VIII, IX and XI, combined deficiency of		DOVES_relaxed.owl
MONDO:0007599	biolink:NamedThing	factor 9 and Factor XI, combined deficiency of		DOVES_relaxed.owl
MONDO:0007605	biolink:NamedThing	fibrinolytic defect		DOVES_relaxed.owl
MONDO:0007614	biolink:NamedThing	congenital fibrosis of extraocular muscles		DOVES_relaxed.owl
MONDO:0007616	biolink:NamedThing	fibula, recurrent dislocation of head of		DOVES_relaxed.owl
MONDO:0007623	biolink:NamedThing	flushing of ears and somnolence		DOVES_relaxed.owl
MONDO:0007625	biolink:NamedThing	focal epithelial hyperplasia of the oral mucosa		DOVES_relaxed.owl
MONDO:0007626	biolink:NamedThing	familial congenital palsy of trochlear nerve	An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0007629	biolink:NamedThing	fragile site 10Q23		DOVES_relaxed.owl
MONDO:0007633	biolink:NamedThing	Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness		DOVES_relaxed.owl
MONDO:0007634	biolink:NamedThing	intellectual disability, FRA12A type		DOVES_relaxed.owl
MONDO:0007638	biolink:NamedThing	fucosidase regulator		DOVES_relaxed.owl
MONDO:0007643	biolink:NamedThing	gamma-A-globulin, defect in assembly of		DOVES_relaxed.owl
MONDO:0007647	biolink:NamedThing	gastric volvulus, intrathoracic		DOVES_relaxed.owl
MONDO:0007649	biolink:NamedThing	gastric juice peptides		DOVES_relaxed.owl
MONDO:0007652	biolink:NamedThing	gastric mucosal hypertrophy	MC)nC)trier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.	DOVES_relaxed.owl
MONDO:0007654	biolink:NamedThing	genu valgum, st. Helena familial		DOVES_relaxed.owl
MONDO:0007657	biolink:NamedThing	giant neutrophil leukocytes		DOVES_relaxed.owl
MONDO:0007661	biolink:NamedThing	Tourette syndrome	A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen.	DOVES_relaxed.owl
MONDO:0007668	biolink:NamedThing	globulin anomaly involving beta (2A)-globulin		DOVES_relaxed.owl
MONDO:0007673	biolink:NamedThing	Glucoglycinuria		DOVES_relaxed.owl
MONDO:0007674	biolink:NamedThing	glucose-6-phosphate dehydrogenase-like		DOVES_relaxed.owl
MONDO:0007675	biolink:NamedThing	glutamic acid decarboxylase, brain, membrane form		DOVES_relaxed.owl
MONDO:0007676	biolink:NamedThing	glutathione transferase activity toward trans-stilbene oxide		DOVES_relaxed.owl
MONDO:0007677	biolink:NamedThing	hyperglycinuria		DOVES_relaxed.owl
MONDO:0007682	biolink:NamedThing	granddad syndrome		DOVES_relaxed.owl
MONDO:0007683	biolink:NamedThing	Grant syndrome	Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.	DOVES_relaxed.owl
MONDO:0007685	biolink:NamedThing	granulosis rubra nasi		DOVES_relaxed.owl
MONDO:0007687	biolink:NamedThing	graying of hair, precocious		DOVES_relaxed.owl
MONDO:0007689	biolink:NamedThing	guanylate kinase 3		DOVES_relaxed.owl
MONDO:0007694	biolink:NamedThing	hairy nose tip		DOVES_relaxed.owl
MONDO:0007695	biolink:NamedThing	hairy palms and soles		DOVES_relaxed.owl
MONDO:0007697	biolink:NamedThing	hand clasping pattern		DOVES_relaxed.owl
MONDO:0007706	biolink:NamedThing	cavernous hemangiomas of face-supraumbilical midline raphe syndrome		DOVES_relaxed.owl
MONDO:0007708	biolink:NamedThing	Kasabach-Merritt syndrome	Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.	DOVES_relaxed.owl
MONDO:0007709	biolink:NamedThing	hematuria, benign familial		DOVES_relaxed.owl
MONDO:0007715	biolink:NamedThing	hemolytic poikilocytic anemia due to reduced ankyrin binding sites		DOVES_relaxed.owl
MONDO:0007717	biolink:NamedThing	hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain		DOVES_relaxed.owl
MONDO:0007720	biolink:NamedThing	hernia, double inguinal		DOVES_relaxed.owl
MONDO:0007722	biolink:NamedThing	heterochromia iridis		DOVES_relaxed.owl
MONDO:0007730	biolink:NamedThing	histiocytic dermatoarthritis		DOVES_relaxed.owl
MONDO:0007736	biolink:NamedThing	HPA 1 Recognition polymorphism, beta-globin-related		DOVES_relaxed.owl
MONDO:0007742	biolink:NamedThing	5-hydroxytryptamine oxygenase regulator		DOVES_relaxed.owl
MONDO:0007746	biolink:NamedThing	orthostatic hypotensive disorder, Streeten type		DOVES_relaxed.owl
MONDO:0007752	biolink:NamedThing	hyperheparinemia		DOVES_relaxed.owl
MONDO:0007753	biolink:NamedThing	Frey syndrome	An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)	DOVES_relaxed.owl
MONDO:0007754	biolink:NamedThing	hyperhidrosis palmaris ET plantaris		DOVES_relaxed.owl
MONDO:0007755	biolink:NamedThing	hyperimmunoglobulin G1(A1) syndrome		DOVES_relaxed.owl
MONDO:0007760	biolink:NamedThing	hyperlipoproteinemia, type II, and deafness		DOVES_relaxed.owl
MONDO:0007765	biolink:NamedThing	hyperostosis cranialis interna		DOVES_relaxed.owl
MONDO:0007769	biolink:NamedThing	hyperpigmentation of eyelid	Over-production of pigment in the eyelid.	DOVES_relaxed.owl
MONDO:0007770	biolink:NamedThing	hyperpigmentation of Fuldauer and Kuijpers		DOVES_relaxed.owl
MONDO:0007773	biolink:NamedThing	hyperproglucagonemia		DOVES_relaxed.owl
MONDO:0007774	biolink:NamedThing	hyperreflexia	An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.	DOVES_relaxed.owl
MONDO:0007775	biolink:NamedThing	hypersecretion of adrenal androgens, familial		DOVES_relaxed.owl
MONDO:0007776	biolink:NamedThing	hypersensitivity pneumonitis, familial	An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0007777	biolink:NamedThing	hypertaurinuric cardiomyopathy		DOVES_relaxed.owl
MONDO:0007782	biolink:NamedThing	hyperthermia, cutaneous, with headaches and nausea		DOVES_relaxed.owl
MONDO:0007785	biolink:NamedThing	hyperthyroxinemia, dystransthyretinemic		DOVES_relaxed.owl
MONDO:0007789	biolink:NamedThing	hypertrophia musculorum vera		DOVES_relaxed.owl
MONDO:0007799	biolink:NamedThing	hypophosphatemic bone disease		DOVES_relaxed.owl
MONDO:0007807	biolink:NamedThing	hypoxanthine guanine phosphoribosyltransferase suppressor		DOVES_relaxed.owl
MONDO:0007820	biolink:NamedThing	fused mandibular incisors	Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure.	DOVES_relaxed.owl
MONDO:0007824	biolink:NamedThing	incisors, lower central, absence of		DOVES_relaxed.owl
MONDO:0007825	biolink:NamedThing	incisors, rotation of upper central		DOVES_relaxed.owl
MONDO:0007826	biolink:NamedThing	incisors, shovel-shaped		DOVES_relaxed.owl
MONDO:0007828	biolink:NamedThing	indifference to pain, congenital, autosomal dominant		DOVES_relaxed.owl
MONDO:0007830	biolink:NamedThing	insensitivity to pain with hyperplastic Myelinopathy		DOVES_relaxed.owl
MONDO:0007831	biolink:NamedThing	insect Stings, hypersensitivity to		DOVES_relaxed.owl
MONDO:0007832	biolink:NamedThing	interferon antiviral depressor		DOVES_relaxed.owl
MONDO:0007833	biolink:NamedThing	iris pigment layer, cleavage of		DOVES_relaxed.owl
MONDO:0007834	biolink:NamedThing	islet cell adenomatosis	A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.	DOVES_relaxed.owl
MONDO:0007835	biolink:NamedThing	intussusception	Telescoping or invagination of a part of the intestine into an adjacent segment.	DOVES_relaxed.owl
MONDO:0007840	biolink:NamedThing	internal carotid artery, spontaneous dissection of		DOVES_relaxed.owl
MONDO:0007847	biolink:NamedThing	keloid formation		DOVES_relaxed.owl
MONDO:0007849	biolink:NamedThing	keratitis fugax hereditaria		DOVES_relaxed.owl
MONDO:0007855	biolink:NamedThing	keratosis, familial actinic		DOVES_relaxed.owl
MONDO:0007865	biolink:NamedThing	knuckle pads		DOVES_relaxed.owl
MONDO:0007869	biolink:NamedThing	Kyrle disease	Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop.	DOVES_relaxed.owl
MONDO:0007870	biolink:NamedThing	labia minora, incomplete adhesion of		DOVES_relaxed.owl
MONDO:0007873	biolink:NamedThing	lactic acidosis, chronic adult form		DOVES_relaxed.owl
MONDO:0007877	biolink:NamedThing	laryngeal adductor paralysis		DOVES_relaxed.owl
MONDO:0007882	biolink:NamedThing	lattice degeneration of retina leading to retinal detachment		DOVES_relaxed.owl
MONDO:0007883	biolink:NamedThing	periodic fever, immunodeficiency, and thrombocytopenia syndrome		DOVES_relaxed.owl
MONDO:0007884	biolink:NamedThing	leg ulcers, familial, of juvenile onset		DOVES_relaxed.owl
MONDO:0007890	biolink:NamedThing	lentiginosis, centrofacial neurodysraphic		DOVES_relaxed.owl
MONDO:0007898	biolink:NamedThing	leukocyte nuclear appendages, hereditary prevalence of		DOVES_relaxed.owl
MONDO:0007901	biolink:NamedThing	levator-medial rectus synkinesis		DOVES_relaxed.owl
MONDO:0007905	biolink:NamedThing	lip, hamartomatous		DOVES_relaxed.owl
MONDO:0007910	biolink:NamedThing	lipoprotein types--Lt system		DOVES_relaxed.owl
MONDO:0007911	biolink:NamedThing	lipoprotein, variant of beta		DOVES_relaxed.owl
MONDO:0007912	biolink:NamedThing	lithium transport		DOVES_relaxed.owl
MONDO:0007913	biolink:NamedThing	low density lipoprotein, variation in molecular weight of		DOVES_relaxed.owl
MONDO:0007914	biolink:NamedThing	lumbar stenosis, familial		DOVES_relaxed.owl
MONDO:0007923	biolink:NamedThing	macrocephaly, benign familial		DOVES_relaxed.owl
MONDO:0007941	biolink:NamedThing	malocclusion due to protuberant upper front teeth		DOVES_relaxed.owl
MONDO:0007942	biolink:NamedThing	Mammastatin		DOVES_relaxed.owl
MONDO:0007945	biolink:NamedThing	mannose 6-phosphate receptor recognition defect, Lebanese type		DOVES_relaxed.owl
MONDO:0007948	biolink:NamedThing	marfanoid hypermobility syndrome		DOVES_relaxed.owl
MONDO:0007951	biolink:NamedThing	masticatory muscles, hypertrophy of		DOVES_relaxed.owl
MONDO:0007952	biolink:NamedThing	maxillofacial dysostosis		DOVES_relaxed.owl
MONDO:0007955	biolink:NamedThing	Meckel diverticulum	A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction.	DOVES_relaxed.owl
MONDO:0007957	biolink:NamedThing	mediosternal depigmentation line		DOVES_relaxed.owl
MONDO:0007962	biolink:NamedThing	megalodactyly	A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances.	DOVES_relaxed.owl
MONDO:0007968	biolink:NamedThing	melanoma tumor antigen Gp90		DOVES_relaxed.owl
MONDO:0007973	biolink:NamedThing	mental and growth retardation with amblyopia		DOVES_relaxed.owl
MONDO:0007976	biolink:NamedThing	mesomelic dwarfism of hypoplastic tibia and radius type		DOVES_relaxed.owl
MONDO:0007980	biolink:NamedThing	metachromasia of fibroblasts		DOVES_relaxed.owl
MONDO:0007985	biolink:NamedThing	metatarsus varus, type 1		DOVES_relaxed.owl
MONDO:0007996	biolink:NamedThing	microphthalmia, isolated, with corectopia		DOVES_relaxed.owl
MONDO:0007997	biolink:NamedThing	microspherophakia with hernia		DOVES_relaxed.owl
MONDO:0007998	biolink:NamedThing	microspherophakia-metaphyseal dysplasia syndrome	Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.	DOVES_relaxed.owl
MONDO:0008001	biolink:NamedThing	milia, multiple eruptive		DOVES_relaxed.owl
MONDO:0008007	biolink:NamedThing	tooth ankylosis	Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement.	DOVES_relaxed.owl
MONDO:0008010	biolink:NamedThing	antigen defined by monoclonal antibody Aj9		DOVES_relaxed.owl
MONDO:0008011	biolink:NamedThing	antigen defined by monoclonal antibody T87		DOVES_relaxed.owl
MONDO:0008012	biolink:NamedThing	Monophalangy of great toe		DOVES_relaxed.owl
MONDO:0008014	biolink:NamedThing	nondisjunction		DOVES_relaxed.owl
MONDO:0008020	biolink:NamedThing	multiple exostoses with spastic tetraparesis		DOVES_relaxed.owl
MONDO:0008022	biolink:NamedThing	muscle cramps, familial		DOVES_relaxed.owl
MONDO:0008027	biolink:NamedThing	muscular atrophy, malignant neurogenic		DOVES_relaxed.owl
MONDO:0008029	biolink:NamedThing	Bethlem myopathy	A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.	DOVES_relaxed.owl
MONDO:0008035	biolink:NamedThing	muscular hypoplasia, congenital universal, of Krabbe		DOVES_relaxed.owl
MONDO:0008037	biolink:NamedThing	myelinated optic nerve fibers		DOVES_relaxed.owl
MONDO:0008051	biolink:NamedThing	tubular aggregate myopathy	Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported.	DOVES_relaxed.owl
MONDO:0008052	biolink:NamedThing	myopathy with storage of glycoproteins and Glycosaminoglycans		DOVES_relaxed.owl
MONDO:0008063	biolink:NamedThing	nasal alar collapse, bilateral		DOVES_relaxed.owl
MONDO:0008064	biolink:NamedThing	nasal bones, absence of		DOVES_relaxed.owl
MONDO:0008065	biolink:NamedThing	nasal groove, familial transverse		DOVES_relaxed.owl
MONDO:0008066	biolink:NamedThing	nasal hyperpigmentation, familial transverse		DOVES_relaxed.owl
MONDO:0008079	biolink:NamedThing	neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome		DOVES_relaxed.owl
MONDO:0008084	biolink:NamedThing	neuropathy, congenital, with arthrogryposis multiplex		DOVES_relaxed.owl
MONDO:0008088	biolink:NamedThing	neuropathy, with paraprotein in serum, cerebrospinal fluid and urine		DOVES_relaxed.owl
MONDO:0008089	biolink:NamedThing	neutropenia, chronic familial		DOVES_relaxed.owl
MONDO:0008095	biolink:NamedThing	nevus anemicus	A capillary vascular anomaly that is characterized by hypopigmented macules.	DOVES_relaxed.owl
MONDO:0008096	biolink:NamedThing	nevus flammeus of nape of neck		DOVES_relaxed.owl
MONDO:0008100	biolink:NamedThing	nipples inverted		DOVES_relaxed.owl
MONDO:0008101	biolink:NamedThing	familial supernumerary nipples	Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.	DOVES_relaxed.owl
MONDO:0008103	biolink:NamedThing	noduli Cutanei, multiple, with urinary tract abnormalities		DOVES_relaxed.owl
MONDO:0008105	biolink:NamedThing	nose, anomalous shape of		DOVES_relaxed.owl
MONDO:0008108	biolink:NamedThing	oculocerebrocutaneous syndrome	Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.	DOVES_relaxed.owl
MONDO:0008114	biolink:NamedThing	obsessive-compulsive disorder	A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety.	DOVES_relaxed.owl
MONDO:0008121	biolink:NamedThing	onychogryposis, pedal, with keratosis plantaris and coarse hair		DOVES_relaxed.owl
MONDO:0008124	biolink:NamedThing	omphalocele, autosomal		DOVES_relaxed.owl
MONDO:0008127	biolink:NamedThing	ophthalmomandibulomelic dysplasia	Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.	DOVES_relaxed.owl
MONDO:0008128	biolink:NamedThing	ophthalmoplegia, familial static		DOVES_relaxed.owl
MONDO:0008129	biolink:NamedThing	ophthalmoplegia, familial total, with iris transillumination		DOVES_relaxed.owl
MONDO:0008140	biolink:NamedThing	ossified ear cartilages		DOVES_relaxed.owl
MONDO:0008141	biolink:NamedThing	ossicular malformations, familial		DOVES_relaxed.owl
MONDO:0008160	biolink:NamedThing	osteosclerosis with ichthyosis and fractures		DOVES_relaxed.owl
MONDO:0008163	biolink:NamedThing	otofaciocervical syndrome	Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.	DOVES_relaxed.owl
MONDO:0008166	biolink:NamedThing	ovalocytosis, hereditary hemolytic, with defective erythropoiesis		DOVES_relaxed.owl
MONDO:0008169	biolink:NamedThing	osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension		DOVES_relaxed.owl
MONDO:0008181	biolink:NamedThing	palmaris longus muscle, absence of		DOVES_relaxed.owl
MONDO:0008185	biolink:NamedThing	hereditary chronic pancreatitis	Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.	DOVES_relaxed.owl
MONDO:0008186	biolink:NamedThing	pancytopenia and occlusive vascular disease		DOVES_relaxed.owl
MONDO:0008188	biolink:NamedThing	papillomatosis, confluent and reticulated		DOVES_relaxed.owl
MONDO:0008189	biolink:NamedThing	papillomatosis, florid, of nipple	A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis.	DOVES_relaxed.owl
MONDO:0008194	biolink:NamedThing	Paramolar tubercle of bolk		DOVES_relaxed.owl
MONDO:0008202	biolink:NamedThing	Parotidomegaly, hereditary bilateral		DOVES_relaxed.owl
MONDO:0008203	biolink:NamedThing	Passovoy factor defect		DOVES_relaxed.owl
MONDO:0008208	biolink:NamedThing	patella, familial recurrent dislocation of		DOVES_relaxed.owl
MONDO:0008212	biolink:NamedThing	Pechet factor deficiency		DOVES_relaxed.owl
MONDO:0008213	biolink:NamedThing	pectus excavatum	A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax.	DOVES_relaxed.owl
MONDO:0008216	biolink:NamedThing	pelvic lipomatosis with crossed renal ectopia		DOVES_relaxed.owl
MONDO:0008226	biolink:NamedThing	periodontitis, aggressive 1	A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people.	DOVES_relaxed.owl
MONDO:0008228	biolink:NamedThing	pernicious anemia	Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells.	DOVES_relaxed.owl
MONDO:0008229	biolink:NamedThing	peroneal nerve, accessory deep		DOVES_relaxed.owl
MONDO:0008230	biolink:NamedThing	peroxidase, salivary		DOVES_relaxed.owl
MONDO:0008231	biolink:NamedThing	Peyronie disease	A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both.	DOVES_relaxed.owl
MONDO:0008232	biolink:NamedThing	phagocytosis, plasma-related defect 1N		DOVES_relaxed.owl
MONDO:0008235	biolink:NamedThing	pheochromocytoma-islet cell tumor syndrome		DOVES_relaxed.owl
MONDO:0008236	biolink:NamedThing	phlebectasia of lips		DOVES_relaxed.owl
MONDO:0008238	biolink:NamedThing	phosphatase, acid, of tissues		DOVES_relaxed.owl
MONDO:0008239	biolink:NamedThing	phosphoglucomutase 4		DOVES_relaxed.owl
MONDO:0008240	biolink:NamedThing	6-phosphogluconolactonase deficiency		DOVES_relaxed.owl
MONDO:0008241	biolink:NamedThing	phosphoglycoprotein 1		DOVES_relaxed.owl
MONDO:0008242	biolink:NamedThing	photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction		DOVES_relaxed.owl
MONDO:0008248	biolink:NamedThing	pigmented purpuric eruption		DOVES_relaxed.owl
MONDO:0008249	biolink:NamedThing	pilonidal sinus	A hair-containing cyst or sinus, occurring chiefly in the coccygeal region.	DOVES_relaxed.owl
MONDO:0008252	biolink:NamedThing	platelet adenylate cyclase activity		DOVES_relaxed.owl
MONDO:0008253	biolink:NamedThing	platelet aggregation, spontaneous		DOVES_relaxed.owl
MONDO:0008254	biolink:NamedThing	platelet disorder, undefined		DOVES_relaxed.owl
MONDO:0008255	biolink:NamedThing	platelet factor 3 deficiency		DOVES_relaxed.owl
MONDO:0008256	biolink:NamedThing	platelet membrane fluidity		DOVES_relaxed.owl
MONDO:0008257	biolink:NamedThing	platelet responsiveness to adrenaline, depressed		DOVES_relaxed.owl
MONDO:0008258	biolink:NamedThing	platelet signal processing defect		DOVES_relaxed.owl
MONDO:0008281	biolink:NamedThing	polyposis, intestinal, scattered and discrete		DOVES_relaxed.owl
MONDO:0008282	biolink:NamedThing	polyposis, intestinal, with multiple exostoses		DOVES_relaxed.owl
MONDO:0008284	biolink:NamedThing	polyposis of gastric fundus without polyposis coli		DOVES_relaxed.owl
MONDO:0008285	biolink:NamedThing	polyps, multiple and recurrent inflammatory fibroid, gastrointestinal		DOVES_relaxed.owl
MONDO:0008288	biolink:NamedThing	popliteal cyst	A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint.	DOVES_relaxed.owl
MONDO:0008299	biolink:NamedThing	posterior column ataxia		DOVES_relaxed.owl
MONDO:0008304	biolink:NamedThing	premature chromatid separation trait		DOVES_relaxed.owl
MONDO:0008307	biolink:NamedThing	presenile dementia, Kraepelin type		DOVES_relaxed.owl
MONDO:0008308	biolink:NamedThing	priapism, familial idiopathic		DOVES_relaxed.owl
MONDO:0008314	biolink:NamedThing	pronation-supination of the forearm, impairment of		DOVES_relaxed.owl
MONDO:0008317	biolink:NamedThing	proteolytic capacity of plasma		DOVES_relaxed.owl
MONDO:0008320	biolink:NamedThing	Protrusio acetabuli		DOVES_relaxed.owl
MONDO:0008321	biolink:NamedThing	pruritus, hereditary localized		DOVES_relaxed.owl
MONDO:0008324	biolink:NamedThing	pseudoarthrogryposis		DOVES_relaxed.owl
MONDO:0008325	biolink:NamedThing	Pseudoatrophoderma colli		DOVES_relaxed.owl
MONDO:0008330	biolink:NamedThing	pseudomonilethrix		DOVES_relaxed.owl
MONDO:0008336	biolink:NamedThing	pterygium colli, isolated		DOVES_relaxed.owl
MONDO:0008337	biolink:NamedThing	familial pterygium of the conjunctiva	Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.	DOVES_relaxed.owl
MONDO:0008342	biolink:NamedThing	pubic bone dysplasia		DOVES_relaxed.owl
MONDO:0008343	biolink:NamedThing	pulmonary atresia with ventricular septal defect	Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot.	DOVES_relaxed.owl
MONDO:0008349	biolink:NamedThing	pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities		DOVES_relaxed.owl
MONDO:0008350	biolink:NamedThing	pulmonic stenosis and deafness		DOVES_relaxed.owl
MONDO:0008352	biolink:NamedThing	pupillary membrane, persistence of		DOVES_relaxed.owl
MONDO:0008354	biolink:NamedThing	purpura simplex		DOVES_relaxed.owl
MONDO:0008356	biolink:NamedThing	radial heads, posterior dislocation of		DOVES_relaxed.owl
MONDO:0008361	biolink:NamedThing	radius, aplasia of, with cleft lip/palate		DOVES_relaxed.owl
MONDO:0008362	biolink:NamedThing	ragweed sensitivity		DOVES_relaxed.owl
MONDO:0008363	biolink:NamedThing	raindrop hypopigmentation		DOVES_relaxed.owl
MONDO:0008364	biolink:NamedThing	Raynaud disease	An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.	DOVES_relaxed.owl
MONDO:0008365	biolink:NamedThing	recombinant 8 syndrome	Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.	DOVES_relaxed.owl
MONDO:0008366	biolink:NamedThing	red cell permeability defect		DOVES_relaxed.owl
MONDO:0008367	biolink:NamedThing	red cell phospholipid defect with hemolysis		DOVES_relaxed.owl
MONDO:0008375	biolink:NamedThing	retinal detachment	An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision.	DOVES_relaxed.owl
MONDO:0008376	biolink:NamedThing	retinal venous beading		DOVES_relaxed.owl
MONDO:0008385	biolink:NamedThing	rhiny		DOVES_relaxed.owl
MONDO:0008391	biolink:NamedThing	Robinow-Sorauf syndrome		DOVES_relaxed.owl
MONDO:0008394	biolink:NamedThing	Silver-Russell syndrome	Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.	DOVES_relaxed.owl
MONDO:0008398	biolink:NamedThing	salivary substance, Clostridium botulinum type		DOVES_relaxed.owl
MONDO:0008400	biolink:NamedThing	salivary duct calculi	Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts.	DOVES_relaxed.owl
MONDO:0008424	biolink:NamedThing	sella turcica, bridged		DOVES_relaxed.owl
MONDO:0008427	biolink:NamedThing	sister chromatid exchange, frequency of		DOVES_relaxed.owl
MONDO:0008430	biolink:NamedThing	skeletal dysplasia with delayed epiphyseal and carpal bone ossification		DOVES_relaxed.owl
MONDO:0008431	biolink:NamedThing	slipped femoral capital epiphyses	A developmental deformity in which the metaphysis of the femur moves proximally and anteriorly away from femur head (epiphysis) at the upper growth plate. It is most common in male adolescents and is associated with a greater risk of early osteoarthritis of the hip.	DOVES_relaxed.owl
MONDO:0008435	biolink:NamedThing	Somatomedin, embryonic		DOVES_relaxed.owl
MONDO:0008441	biolink:NamedThing	spastic paraplegia with associated extrapyramidal signs		DOVES_relaxed.owl
MONDO:0008444	biolink:NamedThing	spastic paraplegia, optic atrophy, and dementia		DOVES_relaxed.owl
MONDO:0008446	biolink:NamedThing	sperm protamine P4		DOVES_relaxed.owl
MONDO:0008456	biolink:NamedThing	spinocerebellar ataxia with rigidity and peripheral neuropathy		DOVES_relaxed.owl
MONDO:0008459	biolink:NamedThing	spinocerebellar atrophy with pupillary paralysis		DOVES_relaxed.owl
MONDO:0008461	biolink:NamedThing	splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells		DOVES_relaxed.owl
MONDO:0008462	biolink:NamedThing	split lower lip		DOVES_relaxed.owl
MONDO:0008463	biolink:NamedThing	split-hand and split-foot with hypodontia		DOVES_relaxed.owl
MONDO:0008475	biolink:NamedThing	spondylolisthesis	A condition in which there is forward displacement of a vertebral bone over the on below it.	DOVES_relaxed.owl
MONDO:0008481	biolink:NamedThing	spondylosis, cervical		DOVES_relaxed.owl
MONDO:0008484	biolink:NamedThing	stapes ankylosis with broad thumbs and toes	Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	DOVES_relaxed.owl
MONDO:0008487	biolink:NamedThing	polycystic ovary syndrome	A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.	DOVES_relaxed.owl
MONDO:0008489	biolink:NamedThing	sternum, premature obliteration of sutures of		DOVES_relaxed.owl
MONDO:0008496	biolink:NamedThing	storm syndrome		DOVES_relaxed.owl
MONDO:0008500	biolink:NamedThing	striae distensae, familial		DOVES_relaxed.owl
MONDO:0008505	biolink:NamedThing	surface antigen, glycoprotein 75		DOVES_relaxed.owl
MONDO:0008506	biolink:NamedThing	symphalangism of toes		DOVES_relaxed.owl
MONDO:0008507	biolink:NamedThing	surface polypeptides, anonymous		DOVES_relaxed.owl
MONDO:0008508	biolink:NamedThing	symphalangism, C. S. Lewis type		DOVES_relaxed.owl
MONDO:0008522	biolink:NamedThing	synovial chondromatosis, familial, with dwarfism		DOVES_relaxed.owl
MONDO:0008524	biolink:NamedThing	syringomas, multiple		DOVES_relaxed.owl
MONDO:0008526	biolink:NamedThing	talonavicular coalition		DOVES_relaxed.owl
MONDO:0008527	biolink:NamedThing	tarsal coalition		DOVES_relaxed.owl
MONDO:0008528	biolink:NamedThing	tear protein, anodal		DOVES_relaxed.owl
MONDO:0008529	biolink:NamedThing	T-cell Subgroups, non-HLA-linked		DOVES_relaxed.owl
MONDO:0008530	biolink:NamedThing	teeth, odd shapes of		DOVES_relaxed.owl
MONDO:0008532	biolink:NamedThing	teeth present at birth		DOVES_relaxed.owl
MONDO:0008533	biolink:NamedThing	teeth, supernumerary	An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption.	DOVES_relaxed.owl
MONDO:0008536	biolink:NamedThing	temperature-sensitive lethal mutation		DOVES_relaxed.owl
MONDO:0008541	biolink:NamedThing	spermatic cord torsion	An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue.	DOVES_relaxed.owl
MONDO:0008542	biolink:NamedThing	tetralogy of fallot	Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.	DOVES_relaxed.owl
MONDO:0008543	biolink:NamedThing	tetralogy of fallot and glaucoma		DOVES_relaxed.owl
MONDO:0008549	biolink:NamedThing	thoracic dysostosis, isolated		DOVES_relaxed.owl
MONDO:0008561	biolink:NamedThing	thumb deformity		DOVES_relaxed.owl
MONDO:0008568	biolink:NamedThing	thyroid hormone plasma membrane transport defect		DOVES_relaxed.owl
MONDO:0008573	biolink:NamedThing	tibial torsion, bilateral medial		DOVES_relaxed.owl
MONDO:0008576	biolink:NamedThing	toe, fifth, number of phalanges 1N		DOVES_relaxed.owl
MONDO:0008577	biolink:NamedThing	toe, misshapen		DOVES_relaxed.owl
MONDO:0008578	biolink:NamedThing	toe, rotated fifth		DOVES_relaxed.owl
MONDO:0008579	biolink:NamedThing	toes, relative length of first and second		DOVES_relaxed.owl
MONDO:0008580	biolink:NamedThing	toes, space between first and second		DOVES_relaxed.owl
MONDO:0008581	biolink:NamedThing	malposition of teeth with or without hypodontia/oligodontia		DOVES_relaxed.owl
MONDO:0008584	biolink:NamedThing	torus palatinus and torus mandibularis		DOVES_relaxed.owl
MONDO:0008589	biolink:NamedThing	tremor of intention, ataxia, and lipofuscinosis		DOVES_relaxed.owl
MONDO:0008593	biolink:NamedThing	trichomegaly		DOVES_relaxed.owl
MONDO:0008595	biolink:NamedThing	trichoepitheliomas, multiple desmoplastic		DOVES_relaxed.owl
MONDO:0008600	biolink:NamedThing	trigger thumb	A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58).	DOVES_relaxed.owl
MONDO:0008604	biolink:NamedThing	triphalangeal thumb with double phalanges		DOVES_relaxed.owl
MONDO:0008605	biolink:NamedThing	triphalangeal thumb, Nonopposable		DOVES_relaxed.owl
MONDO:0008609	biolink:NamedThing	Tristichiasis		DOVES_relaxed.owl
MONDO:0008613	biolink:NamedThing	Tuftsin deficiency		DOVES_relaxed.owl
MONDO:0008614	biolink:NamedThing	suppressor of tumorigenicity 3		DOVES_relaxed.owl
MONDO:0008615	biolink:NamedThing	tune deafness		DOVES_relaxed.owl
MONDO:0008623	biolink:NamedThing	Undritz anomaly		DOVES_relaxed.owl
MONDO:0008624	biolink:NamedThing	Upington disease	Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0008626	biolink:NamedThing	ureter, bifid or double		DOVES_relaxed.owl
MONDO:0008628	biolink:NamedThing	ureterocele	A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra.	DOVES_relaxed.owl
MONDO:0008629	biolink:NamedThing	urolithiasis, uric acid, autosomal dominant		DOVES_relaxed.owl
MONDO:0008630	biolink:NamedThing	urinary bladder, atony of		DOVES_relaxed.owl
MONDO:0008635	biolink:NamedThing	uterine anomalies		DOVES_relaxed.owl
MONDO:0008639	biolink:NamedThing	vascular helix of umbilical cord		DOVES_relaxed.owl
MONDO:0008643	biolink:NamedThing	veins, pattern of, on anterior thorax		DOVES_relaxed.owl
MONDO:0008648	biolink:NamedThing	ventricular tachycardia, familial	An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0008649	biolink:NamedThing	venular insufficiency, systemic		DOVES_relaxed.owl
MONDO:0008651	biolink:NamedThing	vertebral hypoplasia with lumbar kyphosis		DOVES_relaxed.owl
MONDO:0008655	biolink:NamedThing	vestibulocochlear dysfunction, progressive		DOVES_relaxed.owl
MONDO:0008658	biolink:NamedThing	virus Rd114 RNA Complementarity		DOVES_relaxed.owl
MONDO:0008666	biolink:NamedThing	volvulus of midgut	A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.	DOVES_relaxed.owl
MONDO:0008685	biolink:NamedThing	Wolff-Parkinson-white syndrome	A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes.	DOVES_relaxed.owl
MONDO:0008687	biolink:NamedThing	Woronets trait		DOVES_relaxed.owl
MONDO:0008691	biolink:NamedThing	zinc, elevated plasma		DOVES_relaxed.owl
MONDO:0008733	biolink:NamedThing	familial glucocorticoid deficiency	Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.	DOVES_relaxed.owl
MONDO:0008738	biolink:NamedThing	aganglionosis, total intestinal	A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder.	DOVES_relaxed.owl
MONDO:0008739	biolink:NamedThing	agenesis of cerebral white matter		DOVES_relaxed.owl
MONDO:0008773	biolink:NamedThing	amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis		DOVES_relaxed.owl
MONDO:0008775	biolink:NamedThing	Amobarbital, deficient N-hydroxylation of		DOVES_relaxed.owl
MONDO:0008776	biolink:NamedThing	amyloidosis of gingiva and conjunctiva, with intellectual disability		DOVES_relaxed.owl
MONDO:0008778	biolink:NamedThing	amyloidosis, cutaneous bullous		DOVES_relaxed.owl
MONDO:0008779	biolink:NamedThing	arthrogryposis	A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.	DOVES_relaxed.owl
MONDO:0008793	biolink:NamedThing	angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert		DOVES_relaxed.owl
MONDO:0008797	biolink:NamedThing	anodontia	Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth.	DOVES_relaxed.owl
MONDO:0008801	biolink:NamedThing	anosmia for isobutyric acid		DOVES_relaxed.owl
MONDO:0008802	biolink:NamedThing	antithrombin, familial hemorrhagic diathesis due to		DOVES_relaxed.owl
MONDO:0008819	biolink:NamedThing	arteriosclerosis, severe juvenile		DOVES_relaxed.owl
MONDO:0008821	biolink:NamedThing	arthrogryposis, distal, with intellectual disability and characteristic facies		DOVES_relaxed.owl
MONDO:0008834	biolink:NamedThing	asthma, nasal polyps, and aspirin intolerance		DOVES_relaxed.owl
MONDO:0008835	biolink:NamedThing	asthma, short stature, and elevated IgA		DOVES_relaxed.owl
MONDO:0008836	biolink:NamedThing	ataxia with myoclonic epilepsy and presenile dementia		DOVES_relaxed.owl
MONDO:0008837	biolink:NamedThing	ataxia, deafness, and cardiomyopathy		DOVES_relaxed.owl
MONDO:0008839	biolink:NamedThing	ataxia-microcephaly-cataract syndrome		DOVES_relaxed.owl
MONDO:0008844	biolink:NamedThing	Athrombia, essential		DOVES_relaxed.owl
MONDO:0008845	biolink:NamedThing	atonic-astatic syndrome of Foerster		DOVES_relaxed.owl
MONDO:0008848	biolink:NamedThing	atrioventricular dissociation	Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects.	DOVES_relaxed.owl
MONDO:0008859	biolink:NamedThing	berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification		DOVES_relaxed.owl
MONDO:0008860	biolink:NamedThing	beta-aminoisobutyric acid, urinary excretion of		DOVES_relaxed.owl
MONDO:0008868	biolink:NamedThing	biliary malformation with renal tubular insufficiency		DOVES_relaxed.owl
MONDO:0008880	biolink:NamedThing	Bowen syndrome of multiple malformations		DOVES_relaxed.owl
MONDO:0008883	biolink:NamedThing	brachydactyly, type A2, with microcephaly		DOVES_relaxed.owl
MONDO:0008885	biolink:NamedThing	Elsahy-Waters syndrome	An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.	DOVES_relaxed.owl
MONDO:0008886	biolink:NamedThing	Sabinas brittle hair syndrome		DOVES_relaxed.owl
MONDO:0008902	biolink:NamedThing	camptodactyly-ichthyosis syndrome		DOVES_relaxed.owl
MONDO:0008909	biolink:NamedThing	congenital disorder of glycosylation, type i/IIx		DOVES_relaxed.owl
MONDO:0008910	biolink:NamedThing	carboxypeptidase N deficiency	An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity.	DOVES_relaxed.owl
MONDO:0008912	biolink:NamedThing	cardiac septal defects with coarctation of the aorta		DOVES_relaxed.owl
MONDO:0008914	biolink:NamedThing	cardioauditory syndrome of Sanchez Cascos		DOVES_relaxed.owl
MONDO:0008916	biolink:NamedThing	cardiomyopathy associated with myopathy and sudden death		DOVES_relaxed.owl
MONDO:0008920	biolink:NamedThing	carnitine deficiency, myopathic		DOVES_relaxed.owl
MONDO:0008932	biolink:NamedThing	premature centromere division		DOVES_relaxed.owl
MONDO:0008933	biolink:NamedThing	cephalin lipidosis		DOVES_relaxed.owl
MONDO:0008936	biolink:NamedThing	cerebellar ataxia and neurosensory deafness		DOVES_relaxed.owl
MONDO:0008937	biolink:NamedThing	cerebellar ataxia, benign, with thermoanalgesia		DOVES_relaxed.owl
MONDO:0008946	biolink:NamedThing	cerebral angiopathy, dysphoric		DOVES_relaxed.owl
MONDO:0008949	biolink:NamedThing	cerebral malformation, seizures, hypertrichosis, and overlapping fingers		DOVES_relaxed.owl
MONDO:0008951	biolink:NamedThing	cerebrocortical degeneration of infancy		DOVES_relaxed.owl
MONDO:0008957	biolink:NamedThing	cervical vertebrae, agenesis of		DOVES_relaxed.owl
MONDO:0008959	biolink:NamedThing	CHAND syndrome		DOVES_relaxed.owl
MONDO:0008968	biolink:NamedThing	cholestasis with gallstone, ataxia, and visual disturbance		DOVES_relaxed.owl
MONDO:0008969	biolink:NamedThing	cholesterol pneumonia		DOVES_relaxed.owl
MONDO:0008976	biolink:NamedThing	chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome		DOVES_relaxed.owl
MONDO:0008982	biolink:NamedThing	central areolar choroidal dystrophy	A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.	DOVES_relaxed.owl
MONDO:0008983	biolink:NamedThing	chromosomal instability with tissue-specific radiosensitivity		DOVES_relaxed.owl
MONDO:0008986	biolink:NamedThing	circumvallate placenta syndrome		DOVES_relaxed.owl
MONDO:0008989	biolink:NamedThing	citrulline transport defect		DOVES_relaxed.owl
MONDO:0009013	biolink:NamedThing	convulsive disorder, familial, with prenatal or early onset		DOVES_relaxed.owl
MONDO:0009017	biolink:NamedThing	corneal degeneration, band-shaped spheroid		DOVES_relaxed.owl
MONDO:0009022	biolink:NamedThing	corpus callosum, agenesis of	A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.	DOVES_relaxed.owl
MONDO:0009027	biolink:NamedThing	cramps, familial adolescent		DOVES_relaxed.owl
MONDO:0009029	biolink:NamedThing	cranial nerves, congenital paresis of		DOVES_relaxed.owl
MONDO:0009030	biolink:NamedThing	cranial nerves, recurrent paresis of		DOVES_relaxed.owl
MONDO:0009037	biolink:NamedThing	craniosynostosis with anomalies of the cranial base and digits		DOVES_relaxed.owl
MONDO:0009040	biolink:NamedThing	craniosynostosis-intellectual disability syndrome of 51N and Gettig		DOVES_relaxed.owl
MONDO:0009041	biolink:NamedThing	craniosynostosis-intellectual disability-clefting syndrome	A recessive syndrome characterized by craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose.	DOVES_relaxed.owl
MONDO:0009047	biolink:NamedThing	cryptorchidism	The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life.	DOVES_relaxed.owl
MONDO:0009048	biolink:NamedThing	curved nail of fourth toe		DOVES_relaxed.owl
MONDO:0009056	biolink:NamedThing	cutis verticis gyrata and intellectual disability		DOVES_relaxed.owl
MONDO:0009057	biolink:NamedThing	cyanosis and hepatic disease		DOVES_relaxed.owl
MONDO:0009059	biolink:NamedThing	cysteine Peptiduria		DOVES_relaxed.owl
MONDO:0009060	biolink:NamedThing	cystic disease of lung		DOVES_relaxed.owl
MONDO:0009062	biolink:NamedThing	cystic fibrosis-gastritis-megaloblastic anemia syndrome	A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.	DOVES_relaxed.owl
MONDO:0009063	biolink:NamedThing	ventriculomegaly-cystic kidney disease		DOVES_relaxed.owl
MONDO:0009077	biolink:NamedThing	deafness, congenital, and familial myoclonic epilepsy		DOVES_relaxed.owl
MONDO:0009083	biolink:NamedThing	conductive deafness-malformed external ear syndrome		DOVES_relaxed.owl
MONDO:0009085	biolink:NamedThing	deafness-vitiligo-achalasia syndrome	Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.	DOVES_relaxed.owl
MONDO:0009086	biolink:NamedThing	deafness-small bowel diverticulosis-neuropathy syndrome	Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis).	DOVES_relaxed.owl
MONDO:0009087	biolink:NamedThing	deafness, neural, congenital moderate		DOVES_relaxed.owl
MONDO:0009088	biolink:NamedThing	deafness, neural, with atypical atopic dermatitis		DOVES_relaxed.owl
MONDO:0009098	biolink:NamedThing	dextrocardia with unusual facies and microphthalmia		DOVES_relaxed.owl
MONDO:0009102	biolink:NamedThing	diaminopentanuria		DOVES_relaxed.owl
MONDO:0009118	biolink:NamedThing	disseminated sclerosis with narcolepsy		DOVES_relaxed.owl
MONDO:0009122	biolink:NamedThing	Dohle bodies and leukemia		DOVES_relaxed.owl
MONDO:0009127	biolink:NamedThing	dwarfism, low-birth-weight type, with unresponsiveness to growth hormone		DOVES_relaxed.owl
MONDO:0009128	biolink:NamedThing	dwarfism, intellectual disability, and eye abnormality		DOVES_relaxed.owl
MONDO:0009129	biolink:NamedThing	dwarfism, proportionate, with hip dislocation		DOVES_relaxed.owl
MONDO:0009132	biolink:NamedThing	dysautonomia-like disorder		DOVES_relaxed.owl
MONDO:0009137	biolink:NamedThing	dysmyelination with jaundice		DOVES_relaxed.owl
MONDO:0009142	biolink:NamedThing	dystonia with Ringbinden		DOVES_relaxed.owl
MONDO:0009163	biolink:NamedThing	encephalomalacia, multilocular		DOVES_relaxed.owl
MONDO:0009170	biolink:NamedThing	endocardial fibroelastosis and coarctation of abdominal aorta		DOVES_relaxed.owl
MONDO:0009171	biolink:NamedThing	endothelial dystrophy, congenital hereditary, with nail hypoplasia		DOVES_relaxed.owl
MONDO:0009172	biolink:NamedThing	enterocolitis	An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use.	DOVES_relaxed.owl
MONDO:0009174	biolink:NamedThing	protein-losing enteropathy	Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine.	DOVES_relaxed.owl
MONDO:0009184	biolink:NamedThing	epidermolysis bullosa with diaphragmatic hernia		DOVES_relaxed.owl
MONDO:0009186	biolink:NamedThing	epilepsy, photogenic, with spastic diplegia and intellectual disability		DOVES_relaxed.owl
MONDO:0009190	biolink:NamedThing	epiphyseal dysplasia of femoral head, myopia, and deafness		DOVES_relaxed.owl
MONDO:0009193	biolink:NamedThing	epithelial squamous dysplasia, keratinizing desquamative, of urinary tract		DOVES_relaxed.owl
MONDO:0009194	biolink:NamedThing	immunodeficiency 32B	A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV.	DOVES_relaxed.owl
MONDO:0009195	biolink:NamedThing	erythema of acral regions		DOVES_relaxed.owl
MONDO:0009199	biolink:NamedThing	ethanolaminosis		DOVES_relaxed.owl
MONDO:0009201	biolink:NamedThing	facial abnormalities, kyphoscoliosis, and intellectual disability		DOVES_relaxed.owl
MONDO:0009208	biolink:NamedThing	faciothoracogenital syndrome		DOVES_relaxed.owl
MONDO:0009217	biolink:NamedThing	Fanconi-like syndrome	A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.	DOVES_relaxed.owl
MONDO:0009225	biolink:NamedThing	fever, familial lifelong persistent		DOVES_relaxed.owl
MONDO:0009230	biolink:NamedThing	fibrosclerosis, multifocal		DOVES_relaxed.owl
MONDO:0009237	biolink:NamedThing	focal epithelial hyperplasia	Hyperplasia characterized by the presence of a focal proliferation of epithelial cells.	DOVES_relaxed.owl
MONDO:0009243	biolink:NamedThing	Fraser-like syndrome		DOVES_relaxed.owl
MONDO:0009244	biolink:NamedThing	Freesia Flowers, inability to smell		DOVES_relaxed.owl
MONDO:0009246	biolink:NamedThing	Friedreich ataxia and congenital glaucoma		DOVES_relaxed.owl
MONDO:0009248	biolink:NamedThing	fructose and galactose intolerance		DOVES_relaxed.owl
MONDO:0009256	biolink:NamedThing	galactorrhea	Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia.	DOVES_relaxed.owl
MONDO:0009280	biolink:NamedThing	monosodium glutamate sensitivity		DOVES_relaxed.owl
MONDO:0009286	biolink:NamedThing	gluteal muscles, absence of		DOVES_relaxed.owl
MONDO:0009298	biolink:NamedThing	GOMBO syndrome		DOVES_relaxed.owl
MONDO:0009305	biolink:NamedThing	granulocytopenia with immunoglobulin abnormality		DOVES_relaxed.owl
MONDO:0009311	biolink:NamedThing	grouped pigmentation of the retina		DOVES_relaxed.owl
MONDO:0009323	biolink:NamedThing	Halothane hepatitis		DOVES_relaxed.owl
MONDO:0009327	biolink:NamedThing	heart, malformation of		DOVES_relaxed.owl
MONDO:0009328	biolink:NamedThing	hemangiomatosis, cutaneous, with associated features		DOVES_relaxed.owl
MONDO:0009343	biolink:NamedThing	Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect		DOVES_relaxed.owl
MONDO:0009347	biolink:NamedThing	familial lipochrome histiocytosis		DOVES_relaxed.owl
MONDO:0009355	biolink:NamedThing	Hooft disease		DOVES_relaxed.owl
MONDO:0009358	biolink:NamedThing	Hutterite cerebroosteonephrodysplasia syndrome		DOVES_relaxed.owl
MONDO:0009374	biolink:NamedThing	hydroxyprolinemia		DOVES_relaxed.owl
MONDO:0009375	biolink:NamedThing	hymen, imperforate		DOVES_relaxed.owl
MONDO:0009385	biolink:NamedThing	hyperleucine-Isoleucinemia		DOVES_relaxed.owl
MONDO:0009386	biolink:NamedThing	hyperlexia		DOVES_relaxed.owl
MONDO:0009390	biolink:NamedThing	hyperlysinuria with hyperammonemia		DOVES_relaxed.owl
MONDO:0009391	biolink:NamedThing	hypermetabolism due to defect in mitochondria		DOVES_relaxed.owl
MONDO:0009392	biolink:NamedThing	hyperopia, high		DOVES_relaxed.owl
MONDO:0009396	biolink:NamedThing	hyperparathyroidism, neonatal self-limited primary, with hypercalciuria		DOVES_relaxed.owl
MONDO:0009399	biolink:NamedThing	hyperphosphatemia, polyuria, and seizures		DOVES_relaxed.owl
MONDO:0009403	biolink:NamedThing	hypertelorism and tetralogy of fallot		DOVES_relaxed.owl
MONDO:0009407	biolink:NamedThing	hypertrophic neuropathy and cataract		DOVES_relaxed.owl
MONDO:0009408	biolink:NamedThing	hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase		DOVES_relaxed.owl
MONDO:0009415	biolink:NamedThing	hypoglycemia, leucine-induced		DOVES_relaxed.owl
MONDO:0009418	biolink:NamedThing	hypogonadism with low-grade mental deficiency and microcephaly		DOVES_relaxed.owl
MONDO:0009421	biolink:NamedThing	hypogonadism, male		DOVES_relaxed.owl
MONDO:0009422	biolink:NamedThing	hypohidrosis with abnormal palmar dermal Ridges		DOVES_relaxed.owl
MONDO:0009423	biolink:NamedThing	hypokalemic alkalosis, familial, with specific renal tubulopathy		DOVES_relaxed.owl
MONDO:0009429	biolink:NamedThing	hypophosphatemia, renal, with intracerebral calcifications		DOVES_relaxed.owl
MONDO:0009432	biolink:NamedThing	hypopituitarism, congenital, with central diabetes insipidus		DOVES_relaxed.owl
MONDO:0009442	biolink:NamedThing	ichthyosis congenita with biliary atresia		DOVES_relaxed.owl
MONDO:0009447	biolink:NamedThing	ichthyosis, split hairs, and amino aciduria		DOVES_relaxed.owl
MONDO:0009453	biolink:NamedThing	immune deficiency disease		DOVES_relaxed.owl
MONDO:0009455	biolink:NamedThing	immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes		DOVES_relaxed.owl
MONDO:0009457	biolink:NamedThing	immunoglobulin d level in plasma, low		DOVES_relaxed.owl
MONDO:0009460	biolink:NamedThing	indolylacroyl glycinuria with intellectual disability		DOVES_relaxed.owl
MONDO:0009462	biolink:NamedThing	inosine phosphorylase deficiency, immune defect due to		DOVES_relaxed.owl
MONDO:0009463	biolink:NamedThing	internal carotid arteries, hypoplasia of		DOVES_relaxed.owl
MONDO:0009472	biolink:NamedThing	acetylation, slow		DOVES_relaxed.owl
MONDO:0009474	biolink:NamedThing	isovaleric acid, inability to smell		DOVES_relaxed.owl
MONDO:0009481	biolink:NamedThing	Jumping Frenchmen of Maine		DOVES_relaxed.owl
MONDO:0009487	biolink:NamedThing	keratoconus and congenital hip dysplasia		DOVES_relaxed.owl
MONDO:0009488	biolink:NamedThing	keratoconus posticus circumscriptus		DOVES_relaxed.owl
MONDO:0009496	biolink:NamedThing	Kniest-like dysplasia with pursed lips and ectopia lentis		DOVES_relaxed.owl
MONDO:0009497	biolink:NamedThing	Kifafa seizure disorder		DOVES_relaxed.owl
MONDO:0009508	biolink:NamedThing	Lambotte syndrome		DOVES_relaxed.owl
MONDO:0009521	biolink:NamedThing	leukemia, acute myelocytic, with polyposis coli and colon cancer		DOVES_relaxed.owl
MONDO:0009538	biolink:NamedThing	lymphoid system deterioration, progressive		DOVES_relaxed.owl
MONDO:0009541	biolink:NamedThing	lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis		DOVES_relaxed.owl
MONDO:0009542	biolink:NamedThing	lysine malabsorption syndrome		DOVES_relaxed.owl
MONDO:0009545	biolink:NamedThing	macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance		DOVES_relaxed.owl
MONDO:0009546	biolink:NamedThing	macrosomia adiposa congenita		DOVES_relaxed.owl
MONDO:0009551	biolink:NamedThing	magnesium, elevated red cell		DOVES_relaxed.owl
MONDO:0009555	biolink:NamedThing	malocclusion and short stature		DOVES_relaxed.owl
MONDO:0009559	biolink:NamedThing	mandibulofacial dysostosis with mental deficiency		DOVES_relaxed.owl
MONDO:0009573	biolink:NamedThing	megaepiphyseal dwarfism		DOVES_relaxed.owl
MONDO:0009574	biolink:NamedThing	megalencephaly with dysmyelination		DOVES_relaxed.owl
MONDO:0009576	biolink:NamedThing	megalocornea		DOVES_relaxed.owl
MONDO:0009586	biolink:NamedThing	mesangial sclerosis, diffuse renal, with ocular abnormalities		DOVES_relaxed.owl
MONDO:0009587	biolink:NamedThing	mesoaxial hexadactyly and cardiac malformation		DOVES_relaxed.owl
MONDO:0009596	biolink:NamedThing	metaphyseal chondrodysplasia, Pena type		DOVES_relaxed.owl
MONDO:0009600	biolink:NamedThing	metaphyseal dysplasia, anetoderma, and optic atrophy		DOVES_relaxed.owl
MONDO:0009602	biolink:NamedThing	metaphyseal modeling abnormality, skin lesions, and spastic paraplegia		DOVES_relaxed.owl
MONDO:0009608	biolink:NamedThing	methionine malabsorption syndrome		DOVES_relaxed.owl
MONDO:0009619	biolink:NamedThing	microcephaly-micromelia syndrome		DOVES_relaxed.owl
MONDO:0009632	biolink:NamedThing	microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies		DOVES_relaxed.owl
MONDO:0009633	biolink:NamedThing	microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma		DOVES_relaxed.owl
MONDO:0009634	biolink:NamedThing	microtia with meatal atresia and conductive deafness		DOVES_relaxed.owl
MONDO:0009663	biolink:NamedThing	mucus inspissation of respiratory tract		DOVES_relaxed.owl
MONDO:0009674	biolink:NamedThing	muscular dystrophy, adult-onset, with leukoencephalopathy		DOVES_relaxed.owl
MONDO:0009684	biolink:NamedThing	muscular hypertonia, lethal		DOVES_relaxed.owl
MONDO:0009686	biolink:NamedThing	musk, inability to smell		DOVES_relaxed.owl
MONDO:0009701	biolink:NamedThing	myopathy, granulovacuolar lobular, with electrical myotonia		DOVES_relaxed.owl
MONDO:0009702	biolink:NamedThing	myopathy due to malate-aspartate shuttle defect		DOVES_relaxed.owl
MONDO:0009707	biolink:NamedThing	myopathy with giant abnormal mitochondria		DOVES_relaxed.owl
MONDO:0009729	biolink:NamedThing	nephropathy - deafness - hyperparathyroidism syndrome	Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0009743	biolink:NamedThing	neurologic disease, infantile multisystem, with osseous fragility		DOVES_relaxed.owl
MONDO:0009750	biolink:NamedThing	neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive		DOVES_relaxed.owl
MONDO:0009752	biolink:NamedThing	neuropathy, painful		DOVES_relaxed.owl
MONDO:0009763	biolink:NamedThing	obesity-hypoventilation syndrome	Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately.	DOVES_relaxed.owl
MONDO:0009765	biolink:NamedThing	ocular myopathy with curare sensitivity		DOVES_relaxed.owl
MONDO:0009766	biolink:NamedThing	oculocerebral hypopigmentation syndrome of Preus		DOVES_relaxed.owl
MONDO:0009772	biolink:NamedThing	oculorenocerebellar syndrome		DOVES_relaxed.owl
MONDO:0009778	biolink:NamedThing	olivopontocerebellar atrophy II, autosomal recessive		DOVES_relaxed.owl
MONDO:0009781	biolink:NamedThing	Onychotrichodysplasia and neutropenia		DOVES_relaxed.owl
MONDO:0009782	biolink:NamedThing	ophthalmoplegia totalis with ptosis and miosis		DOVES_relaxed.owl
MONDO:0009784	biolink:NamedThing	ophthalmoplegic neuromuscular disorder with abnormal mitochondria		DOVES_relaxed.owl
MONDO:0009788	biolink:NamedThing	optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive		DOVES_relaxed.owl
MONDO:0009790	biolink:NamedThing	Opticocochleodentate degeneration		DOVES_relaxed.owl
MONDO:0009791	biolink:NamedThing	oral sensibility, disturbance of		DOVES_relaxed.owl
MONDO:0009802	biolink:NamedThing	osteodysplasty, precocious, of Danks, Mayne, and Kozlowski		DOVES_relaxed.owl
MONDO:0009803	biolink:NamedThing	congenital osteogenesis imperfecta-microcephaly-cataracts syndrome	Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0009811	biolink:NamedThing	osteoma of middle ear		DOVES_relaxed.owl
MONDO:0009826	biolink:NamedThing	PA polymorphism of alpha-2-globulin		DOVES_relaxed.owl
MONDO:0009828	biolink:NamedThing	palant cleft palate syndrome		DOVES_relaxed.owl
MONDO:0009832	biolink:NamedThing	pancreatic agenesis	Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.	DOVES_relaxed.owl
MONDO:0009836	biolink:NamedThing	pancreatitis, sclerosing cholangitis, and sicca complex		DOVES_relaxed.owl
MONDO:0009840	biolink:NamedThing	Partington-Anderson syndrome		DOVES_relaxed.owl
MONDO:0009844	biolink:NamedThing	pellagra-like syndrome		DOVES_relaxed.owl
MONDO:0009847	biolink:NamedThing	pericardial effusion, chronic	Chronic form of pericardial effusion (disease).	DOVES_relaxed.owl
MONDO:0009850	biolink:NamedThing	periodontitis, chronic, adult		DOVES_relaxed.owl
MONDO:0009851	biolink:NamedThing	peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain		DOVES_relaxed.owl
MONDO:0009854	biolink:NamedThing	peroneus tertius muscle, absence of		DOVES_relaxed.owl
MONDO:0009860	biolink:NamedThing	phenformin 4-hydroxylation		DOVES_relaxed.owl
MONDO:0009881	biolink:NamedThing	pituitary dwarfism with large sella turcica		DOVES_relaxed.owl
MONDO:0009882	biolink:NamedThing	plasma clot retraction factor, deficiency of		DOVES_relaxed.owl
MONDO:0009884	biolink:NamedThing	platelet prostacyclin receptor defect		DOVES_relaxed.owl
MONDO:0009886	biolink:NamedThing	pleoconial myopathy with salt craving		DOVES_relaxed.owl
MONDO:0009888	biolink:NamedThing	polycystic kidney, cataract, and congenital blindness		DOVES_relaxed.owl
MONDO:0009896	biolink:NamedThing	polymyoclonus, infantile		DOVES_relaxed.owl
MONDO:0009898	biolink:NamedThing	polysaccharide, storage of unusual		DOVES_relaxed.owl
MONDO:0009899	biolink:NamedThing	polyhydramnios, chronic idiopathic		DOVES_relaxed.owl
MONDO:0009907	biolink:NamedThing	Prepapillary vascular loops		DOVES_relaxed.owl
MONDO:0009909	biolink:NamedThing	progesterone resistance		DOVES_relaxed.owl
MONDO:0009911	biolink:NamedThing	prolactin deficiency, isolated		DOVES_relaxed.owl
MONDO:0009912	biolink:NamedThing	prolactin deficiency with obesity and enlarged testes		DOVES_relaxed.owl
MONDO:0009913	biolink:NamedThing	prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness		DOVES_relaxed.owl
MONDO:0009922	biolink:NamedThing	Pseudouridinuria and mental defect		DOVES_relaxed.owl
MONDO:0009932	biolink:NamedThing	pulmonary bullae causing pneumothorax		DOVES_relaxed.owl
MONDO:0009937	biolink:NamedThing	pulmonary venoocclusive disease	A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.	DOVES_relaxed.owl
MONDO:0009939	biolink:NamedThing	pulmonic stenosis and congenital nephrosis		DOVES_relaxed.owl
MONDO:0009941	biolink:NamedThing	Pygmy		DOVES_relaxed.owl
MONDO:0009944	biolink:NamedThing	pyloric atresia		DOVES_relaxed.owl
MONDO:0009948	biolink:NamedThing	pyropoikilocytosis, hereditary	An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.	DOVES_relaxed.owl
MONDO:0009951	biolink:NamedThing	radiculoneuropathy, fatal neonatal		DOVES_relaxed.owl
MONDO:0009956	biolink:NamedThing	red skin pigment anomaly of new guinea		DOVES_relaxed.owl
MONDO:0009957	biolink:NamedThing	Reese retinal dysplasia		DOVES_relaxed.owl
MONDO:0009961	biolink:NamedThing	renal and mullerian duct hypoplasia		DOVES_relaxed.owl
MONDO:0009972	biolink:NamedThing	respiratory underresponsiveness to hypoxia and hypercapnia		DOVES_relaxed.owl
MONDO:0009976	biolink:NamedThing	retinal degeneration and epilepsy		DOVES_relaxed.owl
MONDO:0009980	biolink:NamedThing	retinal telangiectasia and hypogammaglobulinemia		DOVES_relaxed.owl
MONDO:0009982	biolink:NamedThing	retinitis pigmentosa inversa with deafness		DOVES_relaxed.owl
MONDO:0009986	biolink:NamedThing	retinopathy, pigmentary, and intellectual disability		DOVES_relaxed.owl
MONDO:0010000	biolink:NamedThing	rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction		DOVES_relaxed.owl
MONDO:0010003	biolink:NamedThing	Rowley-Rosenberg syndrome		DOVES_relaxed.owl
MONDO:0010018	biolink:NamedThing	second metatarsal-metacarpal syndrome		DOVES_relaxed.owl
MONDO:0010022	biolink:NamedThing	senile plaque formation		DOVES_relaxed.owl
MONDO:0010025	biolink:NamedThing	short stature-obesity syndrome		DOVES_relaxed.owl
MONDO:0010032	biolink:NamedThing	Sjogren-Larsson-like ichthyosis without CNS or eye involvement		DOVES_relaxed.owl
MONDO:0010037	biolink:NamedThing	sodium-potassium-ATPase activity of red cell		DOVES_relaxed.owl
MONDO:0010040	biolink:NamedThing	ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability		DOVES_relaxed.owl
MONDO:0010042	biolink:NamedThing	spastic diplegia and intellectual disability		DOVES_relaxed.owl
MONDO:0010048	biolink:NamedThing	spastic paraplegia with myoclonic epilepsy		DOVES_relaxed.owl
MONDO:0010054	biolink:NamedThing	spinal muscular atrophy with intellectual disability		DOVES_relaxed.owl
MONDO:0010055	biolink:NamedThing	spinal muscular atrophy with microcephaly and mental subnormality		DOVES_relaxed.owl
MONDO:0010067	biolink:NamedThing	splenoportal vascular anomalies		DOVES_relaxed.owl
MONDO:0010084	biolink:NamedThing	sucrosuria, hiatus hernia and intellectual disability		DOVES_relaxed.owl
MONDO:0010093	biolink:NamedThing	syndesmodysplasic dwarfism		DOVES_relaxed.owl
MONDO:0010096	biolink:NamedThing	tardive dyskinesia		DOVES_relaxed.owl
MONDO:0010098	biolink:NamedThing	taurodontism	Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome.	DOVES_relaxed.owl
MONDO:0010103	biolink:NamedThing	teeth, fused		DOVES_relaxed.owl
MONDO:0010106	biolink:NamedThing	testes, rudimentary		DOVES_relaxed.owl
MONDO:0010109	biolink:NamedThing	tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities		DOVES_relaxed.owl
MONDO:0010112	biolink:NamedThing	thalamic degeneration, symmetric infantile		DOVES_relaxed.owl
MONDO:0010124	biolink:NamedThing	thumb, distal hyperextensibility of		DOVES_relaxed.owl
MONDO:0010126	biolink:NamedThing	thymic aplasia with fetal death		DOVES_relaxed.owl
MONDO:0010127	biolink:NamedThing	thymoma, familial	An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0010141	biolink:NamedThing	tiglic acidemia		DOVES_relaxed.owl
MONDO:0010145	biolink:NamedThing	tibia, absence of, with congenital deafness		DOVES_relaxed.owl
MONDO:0010147	biolink:NamedThing	tongue, pigmented fungiform papillae of		DOVES_relaxed.owl
MONDO:0010157	biolink:NamedThing	Tryptophanuria with dwarfism		DOVES_relaxed.owl
MONDO:0010158	biolink:NamedThing	T-substance anomaly		DOVES_relaxed.owl
MONDO:0010163	biolink:NamedThing	Tyrosinosis		DOVES_relaxed.owl
MONDO:0010166	biolink:NamedThing	ulnar agenesis and endocardial fibroelastosis		DOVES_relaxed.owl
MONDO:0010174	biolink:NamedThing	Valinemia	Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal.	DOVES_relaxed.owl
MONDO:0010175	biolink:NamedThing	van Bogaert-Hozay syndrome		DOVES_relaxed.owl
MONDO:0010177	biolink:NamedThing	vascular hyalinosis	A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage.	DOVES_relaxed.owl
MONDO:0010179	biolink:NamedThing	isolated right ventricular hypoplasia	Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.	DOVES_relaxed.owl
MONDO:0010189	biolink:NamedThing	vitiligo, progressive, with intellectual disability and urethral duplication		DOVES_relaxed.owl
MONDO:0010217	biolink:NamedThing	de Sanctis-Cacchione syndrome	A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.	DOVES_relaxed.owl
MONDO:0010219	biolink:NamedThing	xylosidase deficiency		DOVES_relaxed.owl
MONDO:0010244	biolink:NamedThing	CGF1		DOVES_relaxed.owl
MONDO:0010260	biolink:NamedThing	arthrogryposis, congenital, lower limb, X-linked		DOVES_relaxed.owl
MONDO:0010262	biolink:NamedThing	hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses		DOVES_relaxed.owl
MONDO:0010267	biolink:NamedThing	episodic muscle weakness, X-linked		DOVES_relaxed.owl
MONDO:0010276	biolink:NamedThing	radioulnar synostosis, radial ray abnormalities, and severe malformations in the male		DOVES_relaxed.owl
MONDO:0010292	biolink:NamedThing	Uruguay Faciocardiomusculoskeletal syndrome		DOVES_relaxed.owl
MONDO:0010312	biolink:NamedThing	radial ray deficiency, X-linked		DOVES_relaxed.owl
MONDO:0010380	biolink:NamedThing	cataract, ataxia, short stature, and intellectual disability		DOVES_relaxed.owl
MONDO:0010381	biolink:NamedThing	Tn polyagglutination syndrome		DOVES_relaxed.owl
MONDO:0010416	biolink:NamedThing	deafness, cataract, retinitis pigmentosa, and sperm abnormalities		DOVES_relaxed.owl
MONDO:0010439	biolink:NamedThing	cardiomyopathy, fatal fetal, due to myocardial calcification		DOVES_relaxed.owl
MONDO:0010536	biolink:NamedThing	tubulin, beta		DOVES_relaxed.owl
MONDO:0010540	biolink:NamedThing	bullous dystrophy, macular type	A genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.	DOVES_relaxed.owl
MONDO:0010546	biolink:NamedThing	central incisors, absence of		DOVES_relaxed.owl
MONDO:0010552	biolink:NamedThing	Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita		DOVES_relaxed.owl
MONDO:0010553	biolink:NamedThing	Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined		DOVES_relaxed.owl
MONDO:0010573	biolink:NamedThing	cutis verticis gyrata, thyroid aplasia, and intellectual disability		DOVES_relaxed.owl
MONDO:0010597	biolink:NamedThing	glutamyl ribose-5-phosphate storage disease		DOVES_relaxed.owl
MONDO:0010599	biolink:NamedThing	granulomas, congenital cerebral		DOVES_relaxed.owl
MONDO:0010605	biolink:NamedThing	hemopoietic proliferation		DOVES_relaxed.owl
MONDO:0010608	biolink:NamedThing	Hhhh syndrome		DOVES_relaxed.owl
MONDO:0010623	biolink:NamedThing	ichthyosis and male hypogonadism		DOVES_relaxed.owl
MONDO:0010628	biolink:NamedThing	immunoglobulin M, level of		DOVES_relaxed.owl
MONDO:0010629	biolink:NamedThing	impacted teeth, multiple		DOVES_relaxed.owl
MONDO:0010630	biolink:NamedThing	imprinting gene related to retinoblastoma		DOVES_relaxed.owl
MONDO:0010634	biolink:NamedThing	jaundice, familial obstructive, of infancy		DOVES_relaxed.owl
MONDO:0010636	biolink:NamedThing	Kallmann syndrome with spastic paraplegia		DOVES_relaxed.owl
MONDO:0010648	biolink:NamedThing	major affective disorder 2		DOVES_relaxed.owl
MONDO:0010673	biolink:NamedThing	modifier, X-linked, for Neurofunctional defects		DOVES_relaxed.owl
MONDO:0010681	biolink:NamedThing	myelolymphatic insufficiency		DOVES_relaxed.owl
MONDO:0010692	biolink:NamedThing	nuclear ribonucleic acid		DOVES_relaxed.owl
MONDO:0010695	biolink:NamedThing	occipital hair, white lock of		DOVES_relaxed.owl
MONDO:0010696	biolink:NamedThing	omphalocele, X-linked		DOVES_relaxed.owl
MONDO:0010697	biolink:NamedThing	ophthalmoplegia, external, and myopia		DOVES_relaxed.owl
MONDO:0010700	biolink:NamedThing	optic atrophy--spastic paraplegia syndrome		DOVES_relaxed.owl
MONDO:0010707	biolink:NamedThing	Paine syndrome		DOVES_relaxed.owl
MONDO:0010719	biolink:NamedThing	radiation sensitivity of natural killer activity		DOVES_relaxed.owl
MONDO:0010721	biolink:NamedThing	reticuloendotheliosis, X-linked		DOVES_relaxed.owl
MONDO:0010732	biolink:NamedThing	spastic paraparesis-deafness syndrome	Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits.	DOVES_relaxed.owl
MONDO:0010734	biolink:NamedThing	spatial visualization, aptitude for		DOVES_relaxed.owl
MONDO:0010739	biolink:NamedThing	Taqi polymorphism		DOVES_relaxed.owl
MONDO:0010740	biolink:NamedThing	taurodontism, microdontia, and dens invaginatus		DOVES_relaxed.owl
MONDO:0010744	biolink:NamedThing	thrombocytopenia with elevated serum IgA and renal disease		DOVES_relaxed.owl
MONDO:0010746	biolink:NamedThing	thumbs, congenital Clasped		DOVES_relaxed.owl
MONDO:0010751	biolink:NamedThing	unique green phenomenon		DOVES_relaxed.owl
MONDO:0010757	biolink:NamedThing	widow's peak syndrome		DOVES_relaxed.owl
MONDO:0010760	biolink:NamedThing	XH antigen		DOVES_relaxed.owl
MONDO:0010769	biolink:NamedThing	hairy ears, Y-linked		DOVES_relaxed.owl
MONDO:0010770	biolink:NamedThing	ubiquitin-activating enzyme, Y-linked		DOVES_relaxed.owl
MONDO:0010776	biolink:NamedThing	hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial		DOVES_relaxed.owl
MONDO:0010777	biolink:NamedThing	cardiomyopathy, infantile hypertrophic		DOVES_relaxed.owl
MONDO:0010784	biolink:NamedThing	chloramphenicol toxicity		DOVES_relaxed.owl
MONDO:0010793	biolink:NamedThing	nephropathy, chronic tubulointerstitial		DOVES_relaxed.owl
MONDO:0010812	biolink:NamedThing	macrocytosis, familial		DOVES_relaxed.owl
MONDO:0010813	biolink:NamedThing	pancreatic beta cell agenesis with neonatal diabetes mellitus		DOVES_relaxed.owl
MONDO:0010838	biolink:NamedThing	gonadal agenesis	A congenital disorder characterized by the complete absence of gonadal tissue.	DOVES_relaxed.owl
MONDO:0010871	biolink:NamedThing	succinic acidemia		DOVES_relaxed.owl
MONDO:0010872	biolink:NamedThing	parotid salivary glands, polycystic dysgenetic disease of		DOVES_relaxed.owl
MONDO:0010874	biolink:NamedThing	enteropathy, familial, with villous edema and immunoglobulin G2 deficiency		DOVES_relaxed.owl
MONDO:0010875	biolink:NamedThing	pachydermodactyly, familial		DOVES_relaxed.owl
MONDO:0010885	biolink:NamedThing	angiokeratoma corporis diffusum with arteriovenous fistulas		DOVES_relaxed.owl
MONDO:0010896	biolink:NamedThing	pigment dispersion syndrome	Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.	DOVES_relaxed.owl
MONDO:0010904	biolink:NamedThing	setting-Sun phenomenon, familial benign		DOVES_relaxed.owl
MONDO:0010910	biolink:NamedThing	enuresis, nocturnal, 1	Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder.	DOVES_relaxed.owl
MONDO:0010919	biolink:NamedThing	varicella, severe recurrent		DOVES_relaxed.owl
MONDO:0010923	biolink:NamedThing	proximal myopathy with focal depletion of mitochondria		DOVES_relaxed.owl
MONDO:0010928	biolink:NamedThing	dwarfism, familial, with muscle spasms		DOVES_relaxed.owl
MONDO:0010937	biolink:NamedThing	isoproterenol-mediated vasodilatation		DOVES_relaxed.owl
MONDO:0010940	biolink:NamedThing	inherited susceptibility to asthma		DOVES_relaxed.owl
MONDO:0010941	biolink:NamedThing	nocturnal enuresis, 2	Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred.	DOVES_relaxed.owl
MONDO:0010944	biolink:NamedThing	mitochondrial import-stimulating factor		DOVES_relaxed.owl
MONDO:0010955	biolink:NamedThing	ectodermal dysplasia with intellectual disability and syndactyly		DOVES_relaxed.owl
MONDO:0010956	biolink:NamedThing	enamel hypoplasia, cataracts, and aqueductal stenosis		DOVES_relaxed.owl
MONDO:0010957	biolink:NamedThing	agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations		DOVES_relaxed.owl
MONDO:0010960	biolink:NamedThing	protocadherin 3		DOVES_relaxed.owl
MONDO:0010970	biolink:NamedThing	cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies		DOVES_relaxed.owl
MONDO:0010978	biolink:NamedThing	portal vein, cavernous transformation of		DOVES_relaxed.owl
MONDO:0010980	biolink:NamedThing	midline malformations, multiple, with limb abnormalities and hypopituitarism		DOVES_relaxed.owl
MONDO:0010982	biolink:NamedThing	ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin		DOVES_relaxed.owl
MONDO:0011000	biolink:NamedThing	guanylate cyclase 2E		DOVES_relaxed.owl
MONDO:0011005	biolink:NamedThing	trisomy 18-like syndrome		DOVES_relaxed.owl
MONDO:0011009	biolink:NamedThing	muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers		DOVES_relaxed.owl
MONDO:0011020	biolink:NamedThing	osteoporosis-oculocutaneous hypopigmentation syndrome	Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0011029	biolink:NamedThing	myeloid tumor suppressor		DOVES_relaxed.owl
MONDO:0011030	biolink:NamedThing	epithelial basolateral chloride conductance regulator, rabbit, homolog of		DOVES_relaxed.owl
MONDO:0011039	biolink:NamedThing	atrophia maculosa varioliformis cutis, familial		DOVES_relaxed.owl
MONDO:0011040	biolink:NamedThing	spinal dysplasia, Anhalt type		DOVES_relaxed.owl
MONDO:0011042	biolink:NamedThing	Martinez-Frias syndrome		DOVES_relaxed.owl
MONDO:0011043	biolink:NamedThing	myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay		DOVES_relaxed.owl
MONDO:0011044	biolink:NamedThing	ectrodactyly of lower limbs, congenital heart defect, and micrognathia		DOVES_relaxed.owl
MONDO:0011046	biolink:NamedThing	short stature, Brussels type	This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0011047	biolink:NamedThing	deafness-epiphyseal dysplasia-short stature syndrome	This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).	DOVES_relaxed.owl
MONDO:0011052	biolink:NamedThing	amelia cleft lip palate hydrocephalus iris coloboma		DOVES_relaxed.owl
MONDO:0011055	biolink:NamedThing	distal monosomy 10p	Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.	DOVES_relaxed.owl
MONDO:0011061	biolink:NamedThing	chorea, remitting, with nystagmus and cataract		DOVES_relaxed.owl
MONDO:0011069	biolink:NamedThing	cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction		DOVES_relaxed.owl
MONDO:0011077	biolink:NamedThing	microcephaly, corpus callosum dysgenesis, and cleft lip/palate		DOVES_relaxed.owl
MONDO:0011078	biolink:NamedThing	anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis	A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.	DOVES_relaxed.owl
MONDO:0011080	biolink:NamedThing	progressive deafness with stapes fixation	Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).	DOVES_relaxed.owl
MONDO:0011089	biolink:NamedThing	patent ductus venosus		DOVES_relaxed.owl
MONDO:0011090	biolink:NamedThing	isolated hereditary congenital facial paralysis	Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.	DOVES_relaxed.owl
MONDO:0011092	biolink:NamedThing	ribbing disease	Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described.	DOVES_relaxed.owl
MONDO:0011100	biolink:NamedThing	microcephaly, retinitis pigmentosa, and sutural cataract		DOVES_relaxed.owl
MONDO:0011115	biolink:NamedThing	spastic paraplegia and Evans syndrome		DOVES_relaxed.owl
MONDO:0011117	biolink:NamedThing	iris pigment epithelium anomalies		DOVES_relaxed.owl
MONDO:0011126	biolink:NamedThing	acute insulin response		DOVES_relaxed.owl
MONDO:0011130	biolink:NamedThing	sebaceous gland hyperplasia, familial presenile		DOVES_relaxed.owl
MONDO:0011135	biolink:NamedThing	superior transverse scapular ligament, calcification of, familial		DOVES_relaxed.owl
MONDO:0011141	biolink:NamedThing	megaloblastic anemia, folate-responsive		DOVES_relaxed.owl
MONDO:0011148	biolink:NamedThing	Spondylospinal thoracic dysostosis	Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life.	DOVES_relaxed.owl
MONDO:0011155	biolink:NamedThing	vacuolar Neuromyopathy		DOVES_relaxed.owl
MONDO:0011161	biolink:NamedThing	sperm-specific antigen 1		DOVES_relaxed.owl
MONDO:0011172	biolink:NamedThing	otofacioosseous-gonadal syndrome		DOVES_relaxed.owl
MONDO:0011174	biolink:NamedThing	hyperzincemia with functional zinc depletion		DOVES_relaxed.owl
MONDO:0011180	biolink:NamedThing	broad terminal phalanges, familial		DOVES_relaxed.owl
MONDO:0011205	biolink:NamedThing	medium chain 3-ketoacyl-Coa thiolase deficiency		DOVES_relaxed.owl
MONDO:0011206	biolink:NamedThing	ventriculomegaly with defects of the radius and kidney		DOVES_relaxed.owl
MONDO:0011209	biolink:NamedThing	progeroid facial appearance with hand anomalies		DOVES_relaxed.owl
MONDO:0011210	biolink:NamedThing	mitochondrial intermembrane space protein Tim12, yeast, homolog of		DOVES_relaxed.owl
MONDO:0011212	biolink:NamedThing	sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth		DOVES_relaxed.owl
MONDO:0011213	biolink:NamedThing	Pierpont syndrome	Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.	DOVES_relaxed.owl
MONDO:0011221	biolink:NamedThing	Weyers ulnar ray/oligodactyly syndrome		DOVES_relaxed.owl
MONDO:0011228	biolink:NamedThing	creases, infra-auricular cutaneous, with tall stature and advanced bone age		DOVES_relaxed.owl
MONDO:0011241	biolink:NamedThing	pseudoacromegaly with severe insulin resistance		DOVES_relaxed.owl
MONDO:0011247	biolink:NamedThing	jejunal atresia with renal adysplasia		DOVES_relaxed.owl
MONDO:0011250	biolink:NamedThing	microcephaly, macrotia, and intellectual disability		DOVES_relaxed.owl
MONDO:0011251	biolink:NamedThing	facial dysmorphism, cleft palate, hearing loss, and camptodactyly		DOVES_relaxed.owl
MONDO:0011254	biolink:NamedThing	brachydactyly, intraventricular septal defect, and deafness		DOVES_relaxed.owl
MONDO:0011256	biolink:NamedThing	emphysema, congenital, with deafness, penoscrotal web, and intellectual disability		DOVES_relaxed.owl
MONDO:0011260	biolink:NamedThing	pancreatic lymphoma, familial	An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0011263	biolink:NamedThing	skeletal dysplasia and progressive central nervous system degeneration, lethal		DOVES_relaxed.owl
MONDO:0011267	biolink:NamedThing	intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration		DOVES_relaxed.owl
MONDO:0011282	biolink:NamedThing	tumor suppressor gene on chromosome 11		DOVES_relaxed.owl
MONDO:0011288	biolink:NamedThing	spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal		DOVES_relaxed.owl
MONDO:0011289	biolink:NamedThing	apraxia of eyelid opening		DOVES_relaxed.owl
MONDO:0011290	biolink:NamedThing	dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability		DOVES_relaxed.owl
MONDO:0011306	biolink:NamedThing	muscular dystrophy, congenital, with cerebellar atrophy		DOVES_relaxed.owl
MONDO:0011310	biolink:NamedThing	long chain fatty acids, defect in transport of		DOVES_relaxed.owl
MONDO:0011315	biolink:NamedThing	Osebold skeletal dysplasia/osteolysis syndrome		DOVES_relaxed.owl
MONDO:0011316	biolink:NamedThing	osteosclerotic chondrodysplasia, lethal, with intracellular inclusions		DOVES_relaxed.owl
MONDO:0011317	biolink:NamedThing	microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects		DOVES_relaxed.owl
MONDO:0011318	biolink:NamedThing	Tonoki syndrome		DOVES_relaxed.owl
MONDO:0011321	biolink:NamedThing	expansile bone lesions		DOVES_relaxed.owl
MONDO:0011322	biolink:NamedThing	Oroacral syndrome, Verloes-Koulischer type		DOVES_relaxed.owl
MONDO:0011323	biolink:NamedThing	arhinia, choanal atresia, and microphthalmia		DOVES_relaxed.owl
MONDO:0011332	biolink:NamedThing	Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin		DOVES_relaxed.owl
MONDO:0011333	biolink:NamedThing	light fixation seizure syndrome		DOVES_relaxed.owl
MONDO:0011341	biolink:NamedThing	microcephaly, facial abnormalities, micromelia, and intellectual disability		DOVES_relaxed.owl
MONDO:0011343	biolink:NamedThing	follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts		DOVES_relaxed.owl
MONDO:0011344	biolink:NamedThing	parotitis, juvenile recurrent		DOVES_relaxed.owl
MONDO:0011345	biolink:NamedThing	facial dysmorphism, selective tooth agenesis, and choroid calcification		DOVES_relaxed.owl
MONDO:0011349	biolink:NamedThing	osteoma of cranial vault, familial		DOVES_relaxed.owl
MONDO:0011352	biolink:NamedThing	neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia		DOVES_relaxed.owl
MONDO:0011353	biolink:NamedThing	atrial septal defect, secundum, with various cardiac and Noncardiac defects		DOVES_relaxed.owl
MONDO:0011356	biolink:NamedThing	exostosis, Dupuytren subungual		DOVES_relaxed.owl
MONDO:0011357	biolink:NamedThing	eccrine syringofibroadenomatosis with eyelid abnormalities		DOVES_relaxed.owl
MONDO:0011358	biolink:NamedThing	blue nevi, familial multiple		DOVES_relaxed.owl
MONDO:0011367	biolink:NamedThing	Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia	A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally.	DOVES_relaxed.owl
MONDO:0011385	biolink:NamedThing	intervertebral disc degenerative disorder	Any disease of a degenerative nature that affects the intervertebral disc.	DOVES_relaxed.owl
MONDO:0011404	biolink:NamedThing	Caronte		DOVES_relaxed.owl
MONDO:0011406	biolink:NamedThing	cholesteatoma, congenital		DOVES_relaxed.owl
MONDO:0011410	biolink:NamedThing	Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly		DOVES_relaxed.owl
MONDO:0011419	biolink:NamedThing	camera-Marugo-Cohen syndrome		DOVES_relaxed.owl
MONDO:0011433	biolink:NamedThing	anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0011446	biolink:NamedThing	myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders		DOVES_relaxed.owl
MONDO:0011453	biolink:NamedThing	ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia		DOVES_relaxed.owl
MONDO:0011455	biolink:NamedThing	lissencephaly, familial, with cleft palate and cerebellar hypoplasia		DOVES_relaxed.owl
MONDO:0011463	biolink:NamedThing	polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive	A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.	DOVES_relaxed.owl
MONDO:0011478	biolink:NamedThing	growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia		DOVES_relaxed.owl
MONDO:0011483	biolink:NamedThing	polycystic bone disease		DOVES_relaxed.owl
MONDO:0011492	biolink:NamedThing	mandibulofacial dysostosis syndrome, Bauru type		DOVES_relaxed.owl
MONDO:0011494	biolink:NamedThing	hyaluronan metabolism, defect 1N		DOVES_relaxed.owl
MONDO:0011501	biolink:NamedThing	wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia	Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.	DOVES_relaxed.owl
MONDO:0011507	biolink:NamedThing	diabetes mellitus, congenital autoimmune		DOVES_relaxed.owl
MONDO:0011509	biolink:NamedThing	low density lipoprotein cholesterol, mild elevation of		DOVES_relaxed.owl
MONDO:0011511	biolink:NamedThing	clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia		DOVES_relaxed.owl
MONDO:0011514	biolink:NamedThing	tricuspid atresia	Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV).	DOVES_relaxed.owl
MONDO:0011516	biolink:NamedThing	early response to neural induction gene		DOVES_relaxed.owl
MONDO:0011538	biolink:NamedThing	frontoocular syndrome		DOVES_relaxed.owl
MONDO:0011550	biolink:NamedThing	fibromatosis, gingival, with hypertrichosis and intellectual disability		DOVES_relaxed.owl
MONDO:0011574	biolink:NamedThing	tetralogy of fallot syndrome, autosomal recessive		DOVES_relaxed.owl
MONDO:0011590	biolink:NamedThing	anisomastia		DOVES_relaxed.owl
MONDO:0011594	biolink:NamedThing	ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis		DOVES_relaxed.owl
MONDO:0011611	biolink:NamedThing	short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting		DOVES_relaxed.owl
MONDO:0011617	biolink:NamedThing	arthropathy, erosive		DOVES_relaxed.owl
MONDO:0011618	biolink:NamedThing	liver fibrocystic disease and polydactyly		DOVES_relaxed.owl
MONDO:0011619	biolink:NamedThing	crumpled helices and small mouth		DOVES_relaxed.owl
MONDO:0011626	biolink:NamedThing	acromegaloid features, overgrowth, cleft palate, and hernia		DOVES_relaxed.owl
MONDO:0011637	biolink:NamedThing	Sener syndrome		DOVES_relaxed.owl
MONDO:0011641	biolink:NamedThing	baculum, congenital absence of		DOVES_relaxed.owl
MONDO:0011642	biolink:NamedThing	carnitine acetyltransferase deficiency	A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state.	DOVES_relaxed.owl
MONDO:0011646	biolink:NamedThing	laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy		DOVES_relaxed.owl
MONDO:0011651	biolink:NamedThing	intellectual disability, short stature, facial anomalies, and joint dislocations		DOVES_relaxed.owl
MONDO:0011654	biolink:NamedThing	intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism		DOVES_relaxed.owl
MONDO:0011662	biolink:NamedThing	pathological gambling	A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity.	DOVES_relaxed.owl
MONDO:0011677	biolink:NamedThing	Megarbane syndrome		DOVES_relaxed.owl
MONDO:0011714	biolink:NamedThing	partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome		DOVES_relaxed.owl
MONDO:0011726	biolink:NamedThing	peripheral arterial occlusive disease 1		DOVES_relaxed.owl
MONDO:0011733	biolink:NamedThing	parasomnia, sleep bruxism type		DOVES_relaxed.owl
MONDO:0011734	biolink:NamedThing	Cardioneuromyopathy with hyaline masses and nemaline rods		DOVES_relaxed.owl
MONDO:0011736	biolink:NamedThing	Cree intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0011745	biolink:NamedThing	duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery		DOVES_relaxed.owl
MONDO:0011746	biolink:NamedThing	symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch		DOVES_relaxed.owl
MONDO:0011751	biolink:NamedThing	COPD, severe early onset		DOVES_relaxed.owl
MONDO:0011779	biolink:NamedThing	laryngeal atresia, encephalocele, and limb deformities		DOVES_relaxed.owl
MONDO:0011782	biolink:NamedThing	angioid streaks	Small breaks in the elastin-filled tissue of the retina.	DOVES_relaxed.owl
MONDO:0011789	biolink:NamedThing	familial meningioma	A meningioma that is transmitted from the parents to an offspring.	DOVES_relaxed.owl
MONDO:0011796	biolink:NamedThing	epilepsy, partial, with pericentral spikes		DOVES_relaxed.owl
MONDO:0011798	biolink:NamedThing	hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration		DOVES_relaxed.owl
MONDO:0011810	biolink:NamedThing	horizontal gaze palsy with progressive scoliosis	Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.	DOVES_relaxed.owl
MONDO:0011825	biolink:NamedThing	streptococcus, group A, severity of infection by		DOVES_relaxed.owl
MONDO:0011848	biolink:NamedThing	headache associated with sexual activity		DOVES_relaxed.owl
MONDO:0011853	biolink:NamedThing	Camptosynpolydactyly, complex		DOVES_relaxed.owl
MONDO:0011854	biolink:NamedThing	secretory diarrhea, myopathy, and deafness		DOVES_relaxed.owl
MONDO:0011858	biolink:NamedThing	spastic paraplegia, ataxia, and intellectual disability		DOVES_relaxed.owl
MONDO:0011861	biolink:NamedThing	breath-holding Spells		DOVES_relaxed.owl
MONDO:0011863	biolink:NamedThing	prostate cancer aggressiveness quantitative trait locus on chromosome 19		DOVES_relaxed.owl
MONDO:0011867	biolink:NamedThing	microphthalmia with cyst, bilateral facial clefts, and limb anomalies		DOVES_relaxed.owl
MONDO:0011887	biolink:NamedThing	cataract, congenital, with mental impairment and dentate gyrus atrophy		DOVES_relaxed.owl
MONDO:0011918	biolink:NamedThing	anxiety		DOVES_relaxed.owl
MONDO:0011922	biolink:NamedThing	nonimmune chronic idiopathic neutropenia of adults		DOVES_relaxed.owl
MONDO:0011949	biolink:NamedThing	Thai symphalangism syndrome		DOVES_relaxed.owl
MONDO:0011958	biolink:NamedThing	bile and pancreatic ducts, complete absence of		DOVES_relaxed.owl
MONDO:0011973	biolink:NamedThing	zinc deficiency, transient neonatal		DOVES_relaxed.owl
MONDO:0011993	biolink:NamedThing	aspirin resistance		DOVES_relaxed.owl
MONDO:0012000	biolink:NamedThing	specific phobia	An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable.	DOVES_relaxed.owl
MONDO:0012001	biolink:NamedThing	mandibulofacial dysostosis with ptosis, autosomal dominant		DOVES_relaxed.owl
MONDO:0012005	biolink:NamedThing	growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy		DOVES_relaxed.owl
MONDO:0012007	biolink:NamedThing	scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities		DOVES_relaxed.owl
MONDO:0012011	biolink:NamedThing	coronary artery disease, autosomal dominant, 1	Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene.	DOVES_relaxed.owl
MONDO:0012038	biolink:NamedThing	speech-sound disorder		DOVES_relaxed.owl
MONDO:0012047	biolink:NamedThing	alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia		DOVES_relaxed.owl
MONDO:0012048	biolink:NamedThing	endogenous depression	Depression which is considered strictly biological.	DOVES_relaxed.owl
MONDO:0012061	biolink:NamedThing	familial sick sinus syndrome	Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.	DOVES_relaxed.owl
MONDO:0012068	biolink:NamedThing	brachial palsy, familial congenital		DOVES_relaxed.owl
MONDO:0012075	biolink:NamedThing	oligodontia-cancer predisposition syndrome		DOVES_relaxed.owl
MONDO:0012076	biolink:NamedThing	midface hypoplasia, obesity, developmental delay, and neonatal hypotonia		DOVES_relaxed.owl
MONDO:0012107	biolink:NamedThing	neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia		DOVES_relaxed.owl
MONDO:0012129	biolink:NamedThing	leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema		DOVES_relaxed.owl
MONDO:0012133	biolink:NamedThing	lateral semicircular canal malformation, familial, with external and middle ear abnormalities		DOVES_relaxed.owl
MONDO:0012171	biolink:NamedThing	marfanoid habitus with situs inversus		DOVES_relaxed.owl
MONDO:0012174	biolink:NamedThing	peripheral cone dystrophy		DOVES_relaxed.owl
MONDO:0012176	biolink:NamedThing	Emanuel syndrome	Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.	DOVES_relaxed.owl
MONDO:0012178	biolink:NamedThing	intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature		DOVES_relaxed.owl
MONDO:0012182	biolink:NamedThing	skeletal dysplasia, rhizomelic, with retinitis pigmentosa		DOVES_relaxed.owl
MONDO:0012207	biolink:NamedThing	umbilicus, familial flat		DOVES_relaxed.owl
MONDO:0012218	biolink:NamedThing	dandy-walker malformation with occipital cephalocele, autosomal dominant		DOVES_relaxed.owl
MONDO:0012223	biolink:NamedThing	hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate		DOVES_relaxed.owl
MONDO:0012242	biolink:NamedThing	syncope, familial vasovagal		DOVES_relaxed.owl
MONDO:0012243	biolink:NamedThing	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations		DOVES_relaxed.owl
MONDO:0012255	biolink:NamedThing	chromosome 18 pericentric inversion		DOVES_relaxed.owl
MONDO:0012259	biolink:NamedThing	colloid cysts of third ventricle	Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening.	DOVES_relaxed.owl
MONDO:0012272	biolink:NamedThing	intellectual disability, keratoconus, febrile seizures, and sinoatrial block		DOVES_relaxed.owl
MONDO:0012283	biolink:NamedThing	cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss		DOVES_relaxed.owl
MONDO:0012284	biolink:NamedThing	nephropathy, progressive, with deafness		DOVES_relaxed.owl
MONDO:0012288	biolink:NamedThing	iridogoniodysgenesis and skeletal anomalies		DOVES_relaxed.owl
MONDO:0012298	biolink:NamedThing	omphalocele, diaphragmatic hernia, and radial ray defects		DOVES_relaxed.owl
MONDO:0012311	biolink:NamedThing	spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness		DOVES_relaxed.owl
MONDO:0012319	biolink:NamedThing	major affective disorder 3		DOVES_relaxed.owl
MONDO:0012325	biolink:NamedThing	Nguyen syndrome		DOVES_relaxed.owl
MONDO:0012328	biolink:NamedThing	trichilemmal cyst		DOVES_relaxed.owl
MONDO:0012329	biolink:NamedThing	short stature and Facioauriculothoracic malformations		DOVES_relaxed.owl
MONDO:0012342	biolink:NamedThing	7q11.23 microduplication syndrome	7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.	DOVES_relaxed.owl
MONDO:0012347	biolink:NamedThing	hamartoma, Precalcaneal congenital fibrolipomatous		DOVES_relaxed.owl
MONDO:0012352	biolink:NamedThing	vasculitis, lymphocytic, cutaneous small vessel		DOVES_relaxed.owl
MONDO:0012373	biolink:NamedThing	ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features		DOVES_relaxed.owl
MONDO:0012374	biolink:NamedThing	brachyphalangy, polydactyly, and tibial aplasia/hypoplasia		DOVES_relaxed.owl
MONDO:0012385	biolink:NamedThing	metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands		DOVES_relaxed.owl
MONDO:0012386	biolink:NamedThing	trichoscyphodysplasia		DOVES_relaxed.owl
MONDO:0012390	biolink:NamedThing	arthrogryposis multiplex with deafness, inguinal hernias, and early death		DOVES_relaxed.owl
MONDO:0012397	biolink:NamedThing	brachydactyly, coloboma, and anterior segment dysgenesis		DOVES_relaxed.owl
MONDO:0012416	biolink:NamedThing	Devriendt syndrome		DOVES_relaxed.owl
MONDO:0012428	biolink:NamedThing	kyphoscoliosis 1		DOVES_relaxed.owl
MONDO:0012451	biolink:NamedThing	esophagitis, eosinophilic, 1		DOVES_relaxed.owl
MONDO:0012454	biolink:NamedThing	alcohol sensitivity, acute	Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.	DOVES_relaxed.owl
MONDO:0012455	biolink:NamedThing	Kleefstra syndrome	A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.	DOVES_relaxed.owl
MONDO:0012468	biolink:NamedThing	rhizomelic dysplasia, scoliosis, and retinitis pigmentosa		DOVES_relaxed.owl
MONDO:0012473	biolink:NamedThing	right pulmonary artery, anomalous origin of, familial		DOVES_relaxed.owl
MONDO:0012484	biolink:NamedThing	prosopagnosia, hereditary	An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0012486	biolink:NamedThing	preauricular tag, isolated, autosomal dominant, 1		DOVES_relaxed.owl
MONDO:0012494	biolink:NamedThing	testicular microlithiasis		DOVES_relaxed.owl
MONDO:0012511	biolink:NamedThing	preterm premature rupture of the membranes	A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.	DOVES_relaxed.owl
MONDO:0012535	biolink:NamedThing	holoprosencephaly, recurrent infections, and monocytosis		DOVES_relaxed.owl
MONDO:0012541	biolink:NamedThing	deafness with labyrinthine aplasia, microtia, and microdontia	Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.	DOVES_relaxed.owl
MONDO:0012550	biolink:NamedThing	iris pattern		DOVES_relaxed.owl
MONDO:0012558	biolink:NamedThing	epiphyseal dysplasia, Baumann type		DOVES_relaxed.owl
MONDO:0012564	biolink:NamedThing	Polyosteolysis-hyperostosis syndrome		DOVES_relaxed.owl
MONDO:0012572	biolink:NamedThing	Sakoda complex		DOVES_relaxed.owl
MONDO:0012586	biolink:NamedThing	coronary artery disease, autosomal dominant 2	Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.	DOVES_relaxed.owl
MONDO:0012590	biolink:NamedThing	XFE progeroid syndrome	A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13.	DOVES_relaxed.owl
MONDO:0012642	biolink:NamedThing	major affective disorder 4		DOVES_relaxed.owl
MONDO:0012657	biolink:NamedThing	Mungan syndrome		DOVES_relaxed.owl
MONDO:0012668	biolink:NamedThing	Tented eyebrows		DOVES_relaxed.owl
MONDO:0012685	biolink:NamedThing	major affective disorder 5		DOVES_relaxed.owl
MONDO:0012686	biolink:NamedThing	major affective disorder 6		DOVES_relaxed.owl
MONDO:0012692	biolink:NamedThing	renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies		DOVES_relaxed.owl
MONDO:0012711	biolink:NamedThing	peripapillary atrophy, beta type		DOVES_relaxed.owl
MONDO:0012712	biolink:NamedThing	dystonia with cerebellar atrophy		DOVES_relaxed.owl
MONDO:0012722	biolink:NamedThing	Dauwerse-Peters syndrome		DOVES_relaxed.owl
MONDO:0012732	biolink:NamedThing	tremor, hereditary essential, and idiopathic normal pressure hydrocephalus		DOVES_relaxed.owl
MONDO:0012749	biolink:NamedThing	mesomelic dysplasia, camera type		DOVES_relaxed.owl
MONDO:0012772	biolink:NamedThing	Stevenson-Carey syndrome		DOVES_relaxed.owl
MONDO:0012773	biolink:NamedThing	Hunter-Macdonald syndrome		DOVES_relaxed.owl
MONDO:0012795	biolink:NamedThing	hypophosphatemic rickets and hyperparathyroidism		DOVES_relaxed.owl
MONDO:0012798	biolink:NamedThing	deafness, unilateral, with delayed endolymphatic hydrops		DOVES_relaxed.owl
MONDO:0012809	biolink:NamedThing	histiocytoma, Angiomatoid fibrous	A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare.	DOVES_relaxed.owl
MONDO:0012814	biolink:NamedThing	diastasis recti and weakness of the linea alba		DOVES_relaxed.owl
MONDO:0012865	biolink:NamedThing	Pseudofolliculitis barbae		DOVES_relaxed.owl
MONDO:0012877	biolink:NamedThing	major affective disorder 8		DOVES_relaxed.owl
MONDO:0012881	biolink:NamedThing	major affective disorder 7		DOVES_relaxed.owl
MONDO:0012882	biolink:NamedThing	major affective disorder 9		DOVES_relaxed.owl
MONDO:0012909	biolink:NamedThing	skeletal defects, genital hypoplasia, and intellectual disability		DOVES_relaxed.owl
MONDO:0012998	biolink:NamedThing	faciocardiomelic syndrome		DOVES_relaxed.owl
MONDO:0013004	biolink:NamedThing	hypotonia, seizures, and precocious puberty		DOVES_relaxed.owl
MONDO:0013009	biolink:NamedThing	Megarbane-Jalkh syndrome		DOVES_relaxed.owl
MONDO:0013037	biolink:NamedThing	Giacheti syndrome		DOVES_relaxed.owl
MONDO:0013054	biolink:NamedThing	microcephaly, growth retardation, cataract, hearing loss, and unusual appearance		DOVES_relaxed.owl
MONDO:0013055	biolink:NamedThing	Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features		DOVES_relaxed.owl
MONDO:0013077	biolink:NamedThing	Santos syndrome		DOVES_relaxed.owl
MONDO:0013149	biolink:NamedThing	hydrops fetalis, nonimmune, with gracile bones and dysmorphic features		DOVES_relaxed.owl
MONDO:0013189	biolink:NamedThing	trichotillomania	A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair.	DOVES_relaxed.owl
MONDO:0013194	biolink:NamedThing	Pseudopili annulati		DOVES_relaxed.owl
MONDO:0013213	biolink:NamedThing	hearing loss, cisplatin-induced, susceptibility to		DOVES_relaxed.owl
MONDO:0013214	biolink:NamedThing	bile acid malabsorption, primary		DOVES_relaxed.owl
MONDO:0013251	biolink:NamedThing	Birbeck granule deficiency		DOVES_relaxed.owl
MONDO:0013260	biolink:NamedThing	esophagitis, eosinophilic, 2		DOVES_relaxed.owl
MONDO:0013318	biolink:NamedThing	early repolarization associated with ventricular fibrillation		DOVES_relaxed.owl
MONDO:0013319	biolink:NamedThing	chromosome 4Q32.1-q32.2 triplication syndrome		DOVES_relaxed.owl
MONDO:0013321	biolink:NamedThing	forsythe-wakeling syndrome		DOVES_relaxed.owl
MONDO:0013330	biolink:NamedThing	agenesis of the corpus callosum and congenital lymphedema		DOVES_relaxed.owl
MONDO:0013332	biolink:NamedThing	brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability		DOVES_relaxed.owl
MONDO:0013333	biolink:NamedThing	odontoid hypoplasia	An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations.	DOVES_relaxed.owl
MONDO:0013335	biolink:NamedThing	tuberculin skin test reactivity, absence of		DOVES_relaxed.owl
MONDO:0013353	biolink:NamedThing	intellectual disability, anterior maxillary protrusion, and strabismus		DOVES_relaxed.owl
MONDO:0013374	biolink:NamedThing	supernumerary der(22)t(8;22) syndrome		DOVES_relaxed.owl
MONDO:0013461	biolink:NamedThing	inosine triphosphatase deficiency	An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes.	DOVES_relaxed.owl
MONDO:0013462	biolink:NamedThing	fucosyltransferase 6 deficiency		DOVES_relaxed.owl
MONDO:0013473	biolink:NamedThing	Hirschsprung disease, cardiac defects, and autonomic dysfunction		DOVES_relaxed.owl
MONDO:0013483	biolink:NamedThing	obesity, hyperphagia, and developmental delay		DOVES_relaxed.owl
MONDO:0013488	biolink:NamedThing	lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis		DOVES_relaxed.owl
MONDO:0013493	biolink:NamedThing	acetyl-coa carboxylase deficiency		DOVES_relaxed.owl
MONDO:0013497	biolink:NamedThing	Okt4 epitope deficiency		DOVES_relaxed.owl
MONDO:0013511	biolink:NamedThing	cyanosis, transient neonatal		DOVES_relaxed.owl
MONDO:0013532	biolink:NamedThing	protein Z deficiency		DOVES_relaxed.owl
MONDO:0013535	biolink:NamedThing	hydroxyacyl glutathione hydrolase deficiency		DOVES_relaxed.owl
MONDO:0013543	biolink:NamedThing	trypsinogen deficiency		DOVES_relaxed.owl
MONDO:0013548	biolink:NamedThing	acetyl-CoA acetyltransferase-2 deficiency		DOVES_relaxed.owl
MONDO:0013549	biolink:NamedThing	N-acetylaspartate deficiency		DOVES_relaxed.owl
MONDO:0013564	biolink:NamedThing	anhaptoglobinemia		DOVES_relaxed.owl
MONDO:0013575	biolink:NamedThing	plasma fibronectin deficiency		DOVES_relaxed.owl
MONDO:0013598	biolink:NamedThing	myostatin-related muscle hypertrophy	Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance.	DOVES_relaxed.owl
MONDO:0013614	biolink:NamedThing	hypertelorism-preauricular sinus-punctual pits-deafness syndrome		DOVES_relaxed.owl
MONDO:0013618	biolink:NamedThing	craniofacial anomalies and anterior segment dysgenesis syndrome		DOVES_relaxed.owl
MONDO:0013660	biolink:NamedThing	arthrogryposis, Perthes disease, and upward gaze palsy		DOVES_relaxed.owl
MONDO:0013663	biolink:NamedThing	platelet-activating factor acetylhydrolase deficiency		DOVES_relaxed.owl
MONDO:0013668	biolink:NamedThing	tetrasomy 18p	Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.	DOVES_relaxed.owl
MONDO:0013680	biolink:NamedThing	cognitive impairment with or without cerebellar ataxia		DOVES_relaxed.owl
MONDO:0013732	biolink:NamedThing	glucocorticoid therapy, response to		DOVES_relaxed.owl
MONDO:0013772	biolink:NamedThing	congenital cataract-hearing loss-severe developmental delay syndrome		DOVES_relaxed.owl
MONDO:0013787	biolink:NamedThing	psychomotor retardation, epilepsy, and craniofacial dysmorphism		DOVES_relaxed.owl
MONDO:0013793	biolink:NamedThing	encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency		DOVES_relaxed.owl
MONDO:0013856	biolink:NamedThing	hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes		DOVES_relaxed.owl
MONDO:0013857	biolink:NamedThing	alar cleft, isolated		DOVES_relaxed.owl
MONDO:0013909	biolink:NamedThing	human herpesvirus 8, susceptibility to		DOVES_relaxed.owl
MONDO:0013981	biolink:NamedThing	myoclonus, familial	A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.	DOVES_relaxed.owl
MONDO:0013988	biolink:NamedThing	congenital heart defects, multiple types, 3		DOVES_relaxed.owl
MONDO:0014008	biolink:NamedThing	phosphohydroxylysinuria		DOVES_relaxed.owl
MONDO:0014058	biolink:NamedThing	facial dysmorphism-immunodeficiency-livedo-short stature syndrome	A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.	DOVES_relaxed.owl
MONDO:0014241	biolink:NamedThing	leukemia, acute lymphoblastic, susceptibility to, 3	Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene.	DOVES_relaxed.owl
MONDO:0014250	biolink:NamedThing	familial hyperprolactinemia	Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.	DOVES_relaxed.owl
MONDO:0014255	biolink:NamedThing	complement factor b deficiency		DOVES_relaxed.owl
MONDO:0014263	biolink:NamedThing	8q24.3 microdeletion syndrome		DOVES_relaxed.owl
MONDO:0014362	biolink:NamedThing	chromosome 16 inversion, 0.45-Mb		DOVES_relaxed.owl
MONDO:0014404	biolink:NamedThing	Webb-Dattani syndrome		DOVES_relaxed.owl
MONDO:0014415	biolink:NamedThing	kallikrein, decreased urinary activity of		DOVES_relaxed.owl
MONDO:0014448	biolink:NamedThing	hyperthyroxinemia, familial dysalbuminemic	An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4.	DOVES_relaxed.owl
MONDO:0014535	biolink:NamedThing	hyperproinsulinemia		DOVES_relaxed.owl
MONDO:0014551	biolink:NamedThing	short stature with nonspecific skeletal abnormalities		DOVES_relaxed.owl
MONDO:0014553	biolink:NamedThing	Tenorio syndrome		DOVES_relaxed.owl
MONDO:0014556	biolink:NamedThing	congenital contractures of the limbs and face, hypotonia, and developmental delay	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.	DOVES_relaxed.owl
MONDO:0014707	biolink:NamedThing	14q32 duplication syndrome	14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.	DOVES_relaxed.owl
MONDO:0014766	biolink:NamedThing	leukodystrophy and acquired microcephaly with or without dystonia;		DOVES_relaxed.owl
MONDO:0014769	biolink:NamedThing	inherited oocyte maturation defect		DOVES_relaxed.owl
MONDO:0014778	biolink:NamedThing	Lamb-Shaffer syndrome		DOVES_relaxed.owl
MONDO:0014795	biolink:NamedThing	exercise intolerance, riboflavin-responsive		DOVES_relaxed.owl
MONDO:0014833	biolink:NamedThing	heart and brain malformation syndrome		DOVES_relaxed.owl
MONDO:0014834	biolink:NamedThing	dyskinesia, limb and orofacial, infantile-onset		DOVES_relaxed.owl
MONDO:0014839	biolink:NamedThing	chorea, childhood-onset, with psychomotor retardation		DOVES_relaxed.owl
MONDO:0014850	biolink:NamedThing	retinitis pigmentosa and erythrocytic microcytosis		DOVES_relaxed.owl
MONDO:0014863	biolink:NamedThing	macrocephaly, dysmorphic facies, and psychomotor retardation		DOVES_relaxed.owl
MONDO:0014888	biolink:NamedThing	MIRAGE syndrome	An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy.	DOVES_relaxed.owl
MONDO:0014918	biolink:NamedThing	tall stature-intellectual disability-renal anomalies syndrome		DOVES_relaxed.owl
MONDO:0014931	biolink:NamedThing	Alazami-Yuan syndrome		DOVES_relaxed.owl
MONDO:0014936	biolink:NamedThing	ZTTK syndrome		DOVES_relaxed.owl
MONDO:0014940	biolink:NamedThing	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset		DOVES_relaxed.owl
MONDO:0014946	biolink:NamedThing	Sifrim-Hitz-Weiss syndrome		DOVES_relaxed.owl
MONDO:0014948	biolink:NamedThing	short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		DOVES_relaxed.owl
MONDO:0014956	biolink:NamedThing	Chitayat syndrome		DOVES_relaxed.owl
MONDO:0014957	biolink:NamedThing	language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia		DOVES_relaxed.owl
MONDO:0014963	biolink:NamedThing	Shashi-Pena syndrome		DOVES_relaxed.owl
MONDO:0014973	biolink:NamedThing	sudden cardiac failure, infantile		DOVES_relaxed.owl
MONDO:0014974	biolink:NamedThing	sudden cardiac failure, alcohol-induced		DOVES_relaxed.owl
MONDO:0014979	biolink:NamedThing	myoclonus, intractable, neonatal		DOVES_relaxed.owl
MONDO:0014980	biolink:NamedThing	cone-rod dystrophy and hearing loss		DOVES_relaxed.owl
MONDO:0014984	biolink:NamedThing	lung disease, immunodeficiency, and chromosome breakage syndrome;		DOVES_relaxed.owl
MONDO:0014994	biolink:NamedThing	global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		DOVES_relaxed.owl
MONDO:0015014	biolink:NamedThing	coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		DOVES_relaxed.owl
MONDO:0015019	biolink:NamedThing	Yao syndrome	An an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants.	DOVES_relaxed.owl
MONDO:0015021	biolink:NamedThing	hypotonia, ataxia, and delayed development syndrome		DOVES_relaxed.owl
MONDO:0015022	biolink:NamedThing	intellectual developmental disorder with dysmorphic facies and ptosis		DOVES_relaxed.owl
MONDO:0015084	biolink:NamedThing	FRAXF syndrome	FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.	DOVES_relaxed.owl
MONDO:0015168	biolink:NamedThing	arthrogryposis multiplex congenita	Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.	DOVES_relaxed.owl
MONDO:0015263	biolink:NamedThing	Brugada syndrome	A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death.	DOVES_relaxed.owl
MONDO:0015278	biolink:NamedThing	familial pancreatic carcinoma	Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.	DOVES_relaxed.owl
MONDO:0015350	biolink:NamedThing	17q11.2 microduplication syndrome	17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	DOVES_relaxed.owl
MONDO:0015356	biolink:NamedThing	hereditary neoplastic syndrome	The inherited predisposition toward getting a tumor.	DOVES_relaxed.owl
MONDO:0015375	biolink:NamedThing	orofaciodigital syndrome	Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.	DOVES_relaxed.owl
MONDO:0015426	biolink:NamedThing	Desbuquois dysplasia	Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.	DOVES_relaxed.owl
MONDO:0015486	biolink:NamedThing	keratoconus	A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances.	DOVES_relaxed.owl
MONDO:0015508	biolink:NamedThing	genetic parenchymatous liver disease		DOVES_relaxed.owl
MONDO:0015509	biolink:NamedThing	genetic biliary tract disease	Genetic biliary tract disease.	DOVES_relaxed.owl
MONDO:0015547	biolink:NamedThing	genetic dementia	Genetic dementia.	DOVES_relaxed.owl
MONDO:0015609	biolink:NamedThing	advanced sleep phase syndrome	A very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions.	DOVES_relaxed.owl
MONDO:0015653	biolink:NamedThing	monogenic epilepsy		DOVES_relaxed.owl
MONDO:0015855	biolink:NamedThing	isolated congenital breast hypoplasia/aplasia		DOVES_relaxed.owl
MONDO:0015999	biolink:NamedThing	primary pigmented nodular adrenocortical disease	A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).	DOVES_relaxed.owl
MONDO:0016070	biolink:NamedThing	hereditary gingival fibromatosis	Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.	DOVES_relaxed.owl
MONDO:0016072	biolink:NamedThing	anomaly of puberty or/and menstrual cycle of genetic origin	An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0016073	biolink:NamedThing	syndromic microphthalmia	A microphthalmia that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0016107	biolink:NamedThing	myotonic dystrophy	An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.	DOVES_relaxed.owl
MONDO:0016165	biolink:NamedThing	genetic hypoparathyroidism	Genetic hypoparathyroidism.	DOVES_relaxed.owl
MONDO:0016166	biolink:NamedThing	genetic hyperparathyroidism	Genetic hyperparathyroidism.	DOVES_relaxed.owl
MONDO:0016215	biolink:NamedThing	spastic quadriplegic cerebral palsy	A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.	DOVES_relaxed.owl
MONDO:0016229	biolink:NamedThing	genetic vascular anomaly	An instance of vascular anomaly that is caused by a modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0016248	biolink:NamedThing	familial ovarian cancer	An instance of ovarian cancer that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0016296	biolink:NamedThing	holoprosencephaly	Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.	DOVES_relaxed.owl
MONDO:0016349	biolink:NamedThing	congenital hydrocephalus	Hydrocephalus that is present at birth.	DOVES_relaxed.owl
MONDO:0016419	biolink:NamedThing	hereditary breast carcinoma	Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.	DOVES_relaxed.owl
MONDO:0016483	biolink:NamedThing	intracranial berry aneurysm	An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.	DOVES_relaxed.owl
MONDO:0016512	biolink:NamedThing	Kabuki syndrome	Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.	DOVES_relaxed.owl
MONDO:0016525	biolink:NamedThing	familial hyperaldosteronism	Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.	DOVES_relaxed.owl
MONDO:0016558	biolink:NamedThing	familial congenital mirror movements	Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.	DOVES_relaxed.owl
MONDO:0016620	biolink:NamedThing	primary hypertrophic osteoarthropathy	A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.	DOVES_relaxed.owl
MONDO:0016624	biolink:NamedThing	inherited deficiency anemia		DOVES_relaxed.owl
MONDO:0016820	biolink:NamedThing	Moyamoya disease	Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.	DOVES_relaxed.owl
MONDO:0017127	biolink:NamedThing	inherited soft tissue tumor	An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0017128	biolink:NamedThing	inherited digestive tract tumor		DOVES_relaxed.owl
MONDO:0017129	biolink:NamedThing	inherited cardiac tumor	An instance of heart cancer that is caused by a modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0017138	biolink:NamedThing	Opitz G/BBB syndrome	Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).	DOVES_relaxed.owl
MONDO:0017329	biolink:NamedThing	familial vesicoureteral reflux	Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.	DOVES_relaxed.owl
MONDO:0017398	biolink:NamedThing	3MC syndrome	3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti.	DOVES_relaxed.owl
MONDO:0017417	biolink:NamedThing	renal-hepatic-pancreatic dysplasia	A rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes.	DOVES_relaxed.owl
MONDO:0017436	biolink:NamedThing	lethal congenital contracture syndrome	A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.	DOVES_relaxed.owl
MONDO:0017813	biolink:NamedThing	van Maldergem syndrome	Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.	DOVES_relaxed.owl
MONDO:0017838	biolink:NamedThing	sclerosteosis	Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.	DOVES_relaxed.owl
MONDO:0017896	biolink:NamedThing	familial nonmedullary thyroid carcinoma	Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.	DOVES_relaxed.owl
MONDO:0018054	biolink:NamedThing	familial atrial fibrillation	An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular.	DOVES_relaxed.owl
MONDO:0018174	biolink:NamedThing	hereditary glaucoma	Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.	DOVES_relaxed.owl
MONDO:0018188	biolink:NamedThing	genetic intestinal polyposis		DOVES_relaxed.owl
MONDO:0018203	biolink:NamedThing	LMNA-related cardiocutaneous progeria syndrome	A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.	DOVES_relaxed.owl
MONDO:0018212	biolink:NamedThing	familial cervical artery dissection	An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0018230	biolink:NamedThing	skeletal dysplasia	Any Mendelian diseases that affects growth and development of the skeleton.	DOVES_relaxed.owl
MONDO:0018257	biolink:NamedThing	familial syringomyelia	An instance of syringomyelia that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0018309	biolink:NamedThing	Hirschsprung disease	Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.	DOVES_relaxed.owl
MONDO:0018383	biolink:NamedThing	osteonecrosis of genetic origin	An instance of osteonecrosis that is caused by a modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0018454	biolink:NamedThing	dysostosis of genetic origin	An instance of dysostosis that is caused by a modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0018493	biolink:NamedThing	malignant hyperthermia of anesthesia	A pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.	DOVES_relaxed.owl
MONDO:0018555	biolink:NamedThing	hypogonadotropic hypogonadism	Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.	DOVES_relaxed.owl
MONDO:0018677	biolink:NamedThing	visceral heterotaxy	A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.	DOVES_relaxed.owl
MONDO:0018751	biolink:NamedThing	genetic otorhinolaryngologic disease	An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0018801	biolink:NamedThing	congenital bilateral absence of vas deferens	Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.	DOVES_relaxed.owl
MONDO:0018829	biolink:NamedThing	familial schizencephaly	An instance of schizencephaly that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0018838	biolink:NamedThing	lissencephaly spectrum disorders	The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.	DOVES_relaxed.owl
MONDO:0018870	biolink:NamedThing	arterial calcification of infancy	Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.	DOVES_relaxed.owl
MONDO:0018940	biolink:NamedThing	congenital myasthenic syndrome	Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.	DOVES_relaxed.owl
MONDO:0018943	biolink:NamedThing	myofibrillar myopathy	Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.	DOVES_relaxed.owl
MONDO:0018947	biolink:NamedThing	centronuclear myopathy	Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.	DOVES_relaxed.owl
MONDO:0018949	biolink:NamedThing	distal myopathy	Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.	DOVES_relaxed.owl
MONDO:0018958	biolink:NamedThing	nemaline myopathy	Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.	DOVES_relaxed.owl
MONDO:0019019	biolink:NamedThing	osteogenesis imperfecta	Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.	DOVES_relaxed.owl
MONDO:0019050	biolink:NamedThing	inherited hemoglobinopathy	An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.	DOVES_relaxed.owl
MONDO:0019052	biolink:NamedThing	inborn errors of metabolism	An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.	DOVES_relaxed.owl
MONDO:0019078	biolink:NamedThing	Ritscher-Schinzel syndrome	Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.	DOVES_relaxed.owl
MONDO:0019165	biolink:NamedThing	central precocious puberty	Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).	DOVES_relaxed.owl
MONDO:0019171	biolink:NamedThing	familial long QT syndrome	A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.	DOVES_relaxed.owl
MONDO:0019182	biolink:NamedThing	inherited obesity		DOVES_relaxed.owl
MONDO:0019284	biolink:NamedThing	inherited isolated nail anomaly	A nail anomaly that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0019443	biolink:NamedThing	dextro-looped transposition of the great arteries	Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.	DOVES_relaxed.owl
MONDO:0019490	biolink:NamedThing	progressive familial heart block	A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.	DOVES_relaxed.owl
MONDO:0019503	biolink:NamedThing	anterior segment dysgenesis	A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).	DOVES_relaxed.owl
MONDO:0019507	biolink:NamedThing	amelogenesis imperfecta	Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.	DOVES_relaxed.owl
MONDO:0019625	biolink:NamedThing	familial thoracic aortic aneurysm and aortic dissection	A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.	DOVES_relaxed.owl
MONDO:0019942	biolink:NamedThing	distal arthrogryposis	A muscle tissue disease characterized by congenital joint contractures of hand and feet.	DOVES_relaxed.owl
MONDO:0020066	biolink:NamedThing	Ehlers-Danlos syndrome	The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.	DOVES_relaxed.owl
MONDO:0020099	biolink:NamedThing	inherited sideroblastic anemia		DOVES_relaxed.owl
MONDO:0020127	biolink:NamedThing	genetic peripheral neuropathy	Genetic peripheral neuropathy.	DOVES_relaxed.owl
MONDO:0020135	biolink:NamedThing	pontocerebellar hypoplasia	Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.	DOVES_relaxed.owl
MONDO:0020238	biolink:NamedThing	inherited vitreous-retinal disease		DOVES_relaxed.owl
MONDO:0020290	biolink:NamedThing	atrioventricular septal defect	A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.	DOVES_relaxed.owl
MONDO:0020341	biolink:NamedThing	periventricular nodular heterotopia	Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.	DOVES_relaxed.owl
MONDO:0020364	biolink:NamedThing	posterior polymorphous corneal dystrophy	Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.	DOVES_relaxed.owl
MONDO:0020496	biolink:NamedThing	familial porencephaly	An instance of porencephaly that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0020523	biolink:NamedThing	familial parathyroid adenoma	An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0020606	biolink:NamedThing	sex-linked disease		DOVES_relaxed.owl
MONDO:0020647	biolink:NamedThing	microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		DOVES_relaxed.owl
MONDO:0020704	biolink:NamedThing	inherited rippling muscle disease	A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.	DOVES_relaxed.owl
MONDO:0020732	biolink:NamedThing	progeria		DOVES_relaxed.owl
MONDO:0020774	biolink:NamedThing	Menke-Hennekam syndrome		DOVES_relaxed.owl
MONDO:0020792	biolink:NamedThing	dwarfism with tall vertebrae		DOVES_relaxed.owl
MONDO:0020840	biolink:NamedThing	pulmonary alveolar proteinosis with hypogammaglobulinemia	A primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood; hematopoietic stem cell transplantation (HSCT) is curative. The pathogenesis may be related to abnormal function of alveolar macrophages, resulting in decreased catabolism of surfactant. The disorder results from a gain-of-function effect that particularly affects B cells and monocytes.	DOVES_relaxed.owl
MONDO:0020937	biolink:NamedThing	contractures, pterygia, and variable skeletal fusions syndrome		DOVES_relaxed.owl
MONDO:0021060	biolink:NamedThing	RASopathy	Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.	DOVES_relaxed.owl
MONDO:0021094	biolink:NamedThing	immunodeficiency disease	Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.	DOVES_relaxed.owl
MONDO:0021106	biolink:NamedThing	laminopathy	A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.	DOVES_relaxed.owl
MONDO:0021107	biolink:NamedThing	narcolepsy	A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day.	DOVES_relaxed.owl
MONDO:0021181	biolink:NamedThing	inherited blood coagulation disorder	Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.	DOVES_relaxed.owl
MONDO:0021272	biolink:NamedThing	inherited orthostatic hypotension		DOVES_relaxed.owl
MONDO:0023003	biolink:NamedThing	double fingernail of fifth finger		DOVES_relaxed.owl
MONDO:0023121	biolink:NamedThing	familial partial paralysis		DOVES_relaxed.owl
MONDO:0023122	biolink:NamedThing	familial prostate carcinoma	Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.	DOVES_relaxed.owl
MONDO:0023603	biolink:NamedThing	hereditary disorder of connective tissue	An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.	DOVES_relaxed.owl
MONDO:0023880	biolink:NamedThing	WHIM syndrome		DOVES_relaxed.owl
MONDO:0023910	biolink:NamedThing	Martsolf syndrome		DOVES_relaxed.owl
MONDO:0023961	biolink:NamedThing	visceral neuropathy, familial		DOVES_relaxed.owl
MONDO:0024189	biolink:NamedThing	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset		DOVES_relaxed.owl
MONDO:0024193	biolink:NamedThing	portal hypertension, noncirrhotic		DOVES_relaxed.owl
MONDO:0024237	biolink:NamedThing	inherited neurodegenerative disorder	An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.	DOVES_relaxed.owl
MONDO:0025351	biolink:NamedThing	multiple congenital anomalies-neurodevelopmental syndrome, X-linked		DOVES_relaxed.owl
MONDO:0025356	biolink:NamedThing	azoospermia, obstructive, with nephrolithiasis		DOVES_relaxed.owl
MONDO:0025511	biolink:NamedThing	inherited neuroendocrine tumor	An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0025986	biolink:NamedThing	megacystis-microcolon-intestinal hypoperistalsis syndrome		DOVES_relaxed.owl
MONDO:0026722	biolink:NamedThing	Mullegama-Klein-Martinez syndrome		DOVES_relaxed.owl
MONDO:0026727	biolink:NamedThing	Shukla-Vernon syndrome		DOVES_relaxed.owl
MONDO:0027749	biolink:NamedThing	serpinopathy		DOVES_relaxed.owl
MONDO:0029131	biolink:NamedThing	peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		DOVES_relaxed.owl
MONDO:0029143	biolink:NamedThing	intellectual developmental disorder with hypertelorism and distinctive facies		DOVES_relaxed.owl
MONDO:0029144	biolink:NamedThing	extraoral halitosis due to methanethiol oxidase deficiency		DOVES_relaxed.owl
MONDO:0030005	biolink:NamedThing	epilepsy, early-onset, with or without developmental delay		DOVES_relaxed.owl
MONDO:0030012	biolink:NamedThing	Diets-Jongmans syndrome		DOVES_relaxed.owl
MONDO:0030018	biolink:NamedThing	autoinflammation with episodic fever and lymphadenopathy		DOVES_relaxed.owl
MONDO:0030026	biolink:NamedThing	retinal dystrophy with leukodystrophy		DOVES_relaxed.owl
MONDO:0030028	biolink:NamedThing	neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline		DOVES_relaxed.owl
MONDO:0030029	biolink:NamedThing	skeletal dysplasia, mild, with joint laxity and advanced bone age		DOVES_relaxed.owl
MONDO:0030030	biolink:NamedThing	Nizon-Isidor syndrome		DOVES_relaxed.owl
MONDO:0030033	biolink:NamedThing	seizures, early-onset, with neurodegeneration and brain calcifications		DOVES_relaxed.owl
MONDO:0030035	biolink:NamedThing	leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome		DOVES_relaxed.owl
MONDO:0030036	biolink:NamedThing	leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome		DOVES_relaxed.owl
MONDO:0030038	biolink:NamedThing	glaucoma, primary closed-angle		DOVES_relaxed.owl
MONDO:0030042	biolink:NamedThing	proteinuria, chronic benign		DOVES_relaxed.owl
MONDO:0030045	biolink:NamedThing	Liberfarb syndrome	A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature.	DOVES_relaxed.owl
MONDO:0030047	biolink:NamedThing	microcephaly, developmental delay, and brittle hair syndrome		DOVES_relaxed.owl
MONDO:0030049	biolink:NamedThing	46,xx sex reversal 5		DOVES_relaxed.owl
MONDO:0030051	biolink:NamedThing	intellectual developmental disorder with autistic features and language delay, with or without seizures		DOVES_relaxed.owl
MONDO:0030055	biolink:NamedThing	sorbitol dehydrogenase deficiency with peripheral neuropathy		DOVES_relaxed.owl
MONDO:0030057	biolink:NamedThing	neurodevelopmental, jaw, eye, and digital syndrome		DOVES_relaxed.owl
MONDO:0030065	biolink:NamedThing	agenesis of corpus callosum, cardiac, ocular, and genital syndrome		DOVES_relaxed.owl
MONDO:0030071	biolink:NamedThing	retinitis pigmentosa 89		DOVES_relaxed.owl
MONDO:0030074	biolink:NamedThing	spondylometaphyseal dysplasia with corneal dystrophy		DOVES_relaxed.owl
MONDO:0030639	biolink:NamedThing	Teebi hypertelorism syndrome		DOVES_relaxed.owl
MONDO:0030796	biolink:NamedThing	leukoencephalopathy, hereditary diffuse, with spheroids		DOVES_relaxed.owl
MONDO:0030831	biolink:NamedThing	gastrointestinal defect and immunodeficiency syndrome		DOVES_relaxed.owl
MONDO:0030835	biolink:NamedThing	developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy		DOVES_relaxed.owl
MONDO:0030849	biolink:NamedThing	intellectual developmental disorder with speech delay and axonal peripheral neuropathy		DOVES_relaxed.owl
MONDO:0030871	biolink:NamedThing	vertebral hypersegmentation and orofacial anomalies		DOVES_relaxed.owl
MONDO:0030873	biolink:NamedThing	cardiofacioneurodevelopmental syndrome		DOVES_relaxed.owl
MONDO:0030878	biolink:NamedThing	Kaya-Barakat-Masson syndrome		DOVES_relaxed.owl
MONDO:0030880	biolink:NamedThing	mandibuloacral dysplasia progeroid syndrome		DOVES_relaxed.owl
MONDO:0030893	biolink:NamedThing	leukoencephalopathy, progressive, infantile-onset, with or without deafness		DOVES_relaxed.owl
MONDO:0030897	biolink:NamedThing	Lessel-Kreienkamp syndrome		DOVES_relaxed.owl
MONDO:0030900	biolink:NamedThing	intellectual developmental disorder with paroxysmal dyskinesia or seizures		DOVES_relaxed.owl
MONDO:0030947	biolink:NamedThing	neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities		DOVES_relaxed.owl
MONDO:0030963	biolink:NamedThing	Li-Campeau syndrome		DOVES_relaxed.owl
MONDO:0030966	biolink:NamedThing	neurofacioskeletal syndrome with or without renal agenesis		DOVES_relaxed.owl
MONDO:0030967	biolink:NamedThing	deafness, congenital, and adult-onset progressive leukoencephalopathy		DOVES_relaxed.owl
MONDO:0030976	biolink:NamedThing	oculomotor-abducens synkinesis		DOVES_relaxed.owl
MONDO:0030977	biolink:NamedThing	neuropathy, hereditary motor, with myopathic features		DOVES_relaxed.owl
MONDO:0030986	biolink:NamedThing	blistering, acantholytic, of oral and laryngeal mucosa		DOVES_relaxed.owl
MONDO:0030987	biolink:NamedThing	vertebral, cardiac, tracheoesophageal, renal, and limb defects		DOVES_relaxed.owl
MONDO:0030988	biolink:NamedThing	developmental delay with dysmorphic facies and dental anomalies		DOVES_relaxed.owl
MONDO:0030990	biolink:NamedThing	Kohlschutter-Tonz syndrome-like		DOVES_relaxed.owl
MONDO:0030991	biolink:NamedThing	bile acid conjugation defect 1		DOVES_relaxed.owl
MONDO:0030992	biolink:NamedThing	short stature, oligodontia, dysmorphic facies, and motor delay		DOVES_relaxed.owl
MONDO:0030995	biolink:NamedThing	global developmental delay with speech and behavioral abnormalities		DOVES_relaxed.owl
MONDO:0031001	biolink:NamedThing	vitreoretinopathy with phalangeal epiphyseal dysplasia		DOVES_relaxed.owl
MONDO:0031002	biolink:NamedThing	Baralle-Macken syndrome		DOVES_relaxed.owl
MONDO:0031006	biolink:NamedThing	neurodegeneration with ataxia and late-onset optic atrophy		DOVES_relaxed.owl
MONDO:0031115	biolink:NamedThing	dyskinesia with orofacial involvement		DOVES_relaxed.owl
MONDO:0031178	biolink:NamedThing	monosomy 7 myelodysplasia and leukemia syndrome		DOVES_relaxed.owl
MONDO:0031199	biolink:NamedThing	inherited interstitial lung disease		DOVES_relaxed.owl
MONDO:0031200	biolink:NamedThing	Bryant-Li-Bhoj neurodevelopmental syndrome		DOVES_relaxed.owl
MONDO:0031213	biolink:NamedThing	restrictive dermopathy		DOVES_relaxed.owl
MONDO:0031240	biolink:NamedThing	familial panic disorder		DOVES_relaxed.owl
MONDO:0031280	biolink:NamedThing	Stuve-Wiedemann syndrome		DOVES_relaxed.owl
MONDO:0031323	biolink:NamedThing	cardiac valvular defect		DOVES_relaxed.owl
MONDO:0031329	biolink:NamedThing	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome		DOVES_relaxed.owl
MONDO:0031386	biolink:NamedThing	cardioacrofacial dysplasia		DOVES_relaxed.owl
MONDO:0031400	biolink:NamedThing	Tessadori-Van-Haaften neurodevelopmental syndrome		DOVES_relaxed.owl
MONDO:0031415	biolink:NamedThing	Carey-Fineman-Ziter syndrome		DOVES_relaxed.owl
MONDO:0031432	biolink:NamedThing	thyroid hormone metabolism, abnormal		DOVES_relaxed.owl
MONDO:0031439	biolink:NamedThing	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		DOVES_relaxed.owl
MONDO:0031632	biolink:NamedThing	developmental delay with short stature, dysmorphic facial features, and sparse hair		DOVES_relaxed.owl
MONDO:0031646	biolink:NamedThing	Braddock-Carey syndrome		DOVES_relaxed.owl
MONDO:0032565	biolink:NamedThing	ophthalmoplegia, external, with rib and vertebral anomalies		DOVES_relaxed.owl
MONDO:0032568	biolink:NamedThing	intellectual developmental disorder with macrocephaly, seizures, and speech delay		DOVES_relaxed.owl
MONDO:0032572	biolink:NamedThing	cardiac, facial, and digital anomalies with developmental delay		DOVES_relaxed.owl
MONDO:0032574	biolink:NamedThing	osteochondrodysplasia, brachydactyly, and overlapping malformed digits		DOVES_relaxed.owl
MONDO:0032579	biolink:NamedThing	warburg-cinotti syndrome		DOVES_relaxed.owl
MONDO:0032592	biolink:NamedThing	cardiomyopathy, dilated, 2c		DOVES_relaxed.owl
MONDO:0032594	biolink:NamedThing	intellectual developmental disorder and retinitis pigmentosa; IDDRP		DOVES_relaxed.owl
MONDO:0032600	biolink:NamedThing	Snijders Blok-Campeau syndrome		DOVES_relaxed.owl
MONDO:0032601	biolink:NamedThing	inflammatory bowel disease, immunodeficiency, and encephalopathy		DOVES_relaxed.owl
MONDO:0032607	biolink:NamedThing	vertebral anomalies and variable endocrine and T-cell dysfunction		DOVES_relaxed.owl
MONDO:0032614	biolink:NamedThing	epidermodysplasia verruciformis, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0032642	biolink:NamedThing	arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development		DOVES_relaxed.owl
MONDO:0032644	biolink:NamedThing	epidermodysplasia verruciformis, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0032645	biolink:NamedThing	trichohepatoneurodevelopmental syndrome		DOVES_relaxed.owl
MONDO:0032648	biolink:NamedThing	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations		DOVES_relaxed.owl
MONDO:0032650	biolink:NamedThing	neurodegeneration, childhood-onset, with cerebellar atrophy		DOVES_relaxed.owl
MONDO:0032651	biolink:NamedThing	fibrosis, neurodegeneration, and cerebral angiomatosis		DOVES_relaxed.owl
MONDO:0032653	biolink:NamedThing	cardiac-urogenital syndrome		DOVES_relaxed.owl
MONDO:0032655	biolink:NamedThing	visual impairment and progressive phthisis bulbi		DOVES_relaxed.owl
MONDO:0032656	biolink:NamedThing	microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum		DOVES_relaxed.owl
MONDO:0032658	biolink:NamedThing	macrocephaly, acquired, with impaired intellectual development		DOVES_relaxed.owl
MONDO:0032659	biolink:NamedThing	mucocutaneous ulceration, chronic		DOVES_relaxed.owl
MONDO:0032666	biolink:NamedThing	epidermodysplasia verruciformis, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0032667	biolink:NamedThing	epidermodysplasia verruciformis, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0032672	biolink:NamedThing	intellectual developmental disorder with cardiac defects and dysmorphic facies		DOVES_relaxed.owl
MONDO:0032680	biolink:NamedThing	global developmental delay with or without impaired intellectual development		DOVES_relaxed.owl
MONDO:0032685	biolink:NamedThing	infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development		DOVES_relaxed.owl
MONDO:0032687	biolink:NamedThing	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature		DOVES_relaxed.owl
MONDO:0032688	biolink:NamedThing	polymicrogyria with or without vascular-type ehlers-danlos syndrome		DOVES_relaxed.owl
MONDO:0032690	biolink:NamedThing	microcephaly, growth deficiency, seizures, and brain malformations		DOVES_relaxed.owl
MONDO:0032699	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 15		DOVES_relaxed.owl
MONDO:0032707	biolink:NamedThing	turnpenny-fry syndrome		DOVES_relaxed.owl
MONDO:0032714	biolink:NamedThing	facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome		DOVES_relaxed.owl
MONDO:0032716	biolink:NamedThing	leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate		DOVES_relaxed.owl
MONDO:0032733	biolink:NamedThing	global developmental delay, progressive ataxia, and elevated glutamine		DOVES_relaxed.owl
MONDO:0032736	biolink:NamedThing	metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression		DOVES_relaxed.owl
MONDO:0032738	biolink:NamedThing	gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy		DOVES_relaxed.owl
MONDO:0032745	biolink:NamedThing	developmental delay with variable intellectual impairment and behavioral abnormalities		DOVES_relaxed.owl
MONDO:0032758	biolink:NamedThing	neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia		DOVES_relaxed.owl
MONDO:0032759	biolink:NamedThing	intellectual developmental disorder with short stature and variable skeletal anomalies		DOVES_relaxed.owl
MONDO:0032760	biolink:NamedThing	developmental delay with or without dysmorphic facies and autism		DOVES_relaxed.owl
MONDO:0032764	biolink:NamedThing	Khan-Khan-Katsanis syndrome		DOVES_relaxed.owl
MONDO:0032772	biolink:NamedThing	brain abnormalities, neurodegeneration, and dysosteosclerosis		DOVES_relaxed.owl
MONDO:0032774	biolink:NamedThing	cerebellar, ocular, craniofacial, and genital syndrome		DOVES_relaxed.owl
MONDO:0032780	biolink:NamedThing	hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities		DOVES_relaxed.owl
MONDO:0032781	biolink:NamedThing	congenital hypotonia, epilepsy, developmental delay, and digital anomalies		DOVES_relaxed.owl
MONDO:0032788	biolink:NamedThing	cerebellar atrophy with seizures and variable developmental delay		DOVES_relaxed.owl
MONDO:0032793	biolink:NamedThing	O'Donnell-Luria-Rodan syndrome		DOVES_relaxed.owl
MONDO:0032797	biolink:NamedThing	myopathy, congenital, with tremor		DOVES_relaxed.owl
MONDO:0032798	biolink:NamedThing	ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features		DOVES_relaxed.owl
MONDO:0032805	biolink:NamedThing	hypopigmentation, organomegaly, and delayed myelination and development		DOVES_relaxed.owl
MONDO:0032809	biolink:NamedThing	hepatitis, fulminant viral, susceptibility to		DOVES_relaxed.owl
MONDO:0032814	biolink:NamedThing	microangiopathy and leukoencephalopathy, pontine, autosomal dominant		DOVES_relaxed.owl
MONDO:0032821	biolink:NamedThing	myopathy, congenital, progressive, with scoliosis		DOVES_relaxed.owl
MONDO:0032824	biolink:NamedThing	glycosylphosphatidylinositol biosynthesis defect 21		DOVES_relaxed.owl
MONDO:0032827	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 16		DOVES_relaxed.owl
MONDO:0032828	biolink:NamedThing	spastic tetraplegia and axial hypotonia, progressive		DOVES_relaxed.owl
MONDO:0032830	biolink:NamedThing	snijders blok-fisher syndrome		DOVES_relaxed.owl
MONDO:0032832	biolink:NamedThing	intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies		DOVES_relaxed.owl
MONDO:0032833	biolink:NamedThing	lower urinary tract obstruction, congenital		DOVES_relaxed.owl
MONDO:0032836	biolink:NamedThing	weiss-kruszka syndrome		DOVES_relaxed.owl
MONDO:0032841	biolink:NamedThing	Usher syndrome, type 1M		DOVES_relaxed.owl
MONDO:0032842	biolink:NamedThing	Siddiqi syndrome		DOVES_relaxed.owl
MONDO:0032843	biolink:NamedThing	oculopharyngeal myopathy with leukoencephalopathy 1		DOVES_relaxed.owl
MONDO:0032850	biolink:NamedThing	neurooculocardiogenitourinary syndrome		DOVES_relaxed.owl
MONDO:0032851	biolink:NamedThing	intellectual developmental disorder with impaired language and dysmorphic facies		DOVES_relaxed.owl
MONDO:0032852	biolink:NamedThing	myopathy, congenital, with structured cores and z-line abnormalities		DOVES_relaxed.owl
MONDO:0032853	biolink:NamedThing	myopathy, distal, 6, adult-onset, autosomal dominant		DOVES_relaxed.owl
MONDO:0032862	biolink:NamedThing	hydrocephalus, congenital communicating, 1		DOVES_relaxed.owl
MONDO:0032864	biolink:NamedThing	intellectual developmental disorder with speech delay, autism, and dysmorphic facies		DOVES_relaxed.owl
MONDO:0032867	biolink:NamedThing	pancreatic cancer, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0032868	biolink:NamedThing	lessel-kubisch syndrome		DOVES_relaxed.owl
MONDO:0032870	biolink:NamedThing	intellectual developmental disorder with short stature and behavioral abnormalities		DOVES_relaxed.owl
MONDO:0032875	biolink:NamedThing	short stature and microcephaly with genital anomalies		DOVES_relaxed.owl
MONDO:0032879	biolink:NamedThing	megabladder, congenital		DOVES_relaxed.owl
MONDO:0032882	biolink:NamedThing	Heyn-Sproul-Jackson syndrome		DOVES_relaxed.owl
MONDO:0032883	biolink:NamedThing	intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures		DOVES_relaxed.owl
MONDO:0032884	biolink:NamedThing	ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies		DOVES_relaxed.owl
MONDO:0032885	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Isidor-Toutain type		DOVES_relaxed.owl
MONDO:0032886	biolink:NamedThing	Liang-Wang syndrome		DOVES_relaxed.owl
MONDO:0032890	biolink:NamedThing	neuromuscular disease and ocular or auditory anomalies with or without seizures		DOVES_relaxed.owl
MONDO:0032892	biolink:NamedThing	structural brain anomalies with impaired intellectual development and craniosynostosis		DOVES_relaxed.owl
MONDO:0032893	biolink:NamedThing	pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures		DOVES_relaxed.owl
MONDO:0032897	biolink:NamedThing	intellectual developmental disorder with hypotonia and behavioral abnormalities		DOVES_relaxed.owl
MONDO:0032901	biolink:NamedThing	Catifa syndrome		DOVES_relaxed.owl
MONDO:0032908	biolink:NamedThing	CEBALID syndrome		DOVES_relaxed.owl
MONDO:0032913	biolink:NamedThing	congenital heart defects, multiple types, 7		DOVES_relaxed.owl
MONDO:0032916	biolink:NamedThing	Imagawa-Matsumoto syndrome		DOVES_relaxed.owl
MONDO:0032920	biolink:NamedThing	juvenile arthritis due to defect in LACC1		DOVES_relaxed.owl
MONDO:0032922	biolink:NamedThing	Beck-Fahrner syndrome		DOVES_relaxed.owl
MONDO:0032925	biolink:NamedThing	respiratory papillomatosis, juvenile recurrent, congenital		DOVES_relaxed.owl
MONDO:0032926	biolink:NamedThing	sandestig-stefanova syndrome		DOVES_relaxed.owl
MONDO:0032927	biolink:NamedThing	triokinase and FMN cyclase deficiency syndrome		DOVES_relaxed.owl
MONDO:0032928	biolink:NamedThing	T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant		DOVES_relaxed.owl
MONDO:0032930	biolink:NamedThing	intellectual developmental disorder with poor growth and with or without seizures or ataxia		DOVES_relaxed.owl
MONDO:0032931	biolink:NamedThing	pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal		DOVES_relaxed.owl
MONDO:0032933	biolink:NamedThing	chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant		DOVES_relaxed.owl
MONDO:0032934	biolink:NamedThing	genitourinary and/or brain malformation syndrome		DOVES_relaxed.owl
MONDO:0032935	biolink:NamedThing	rhizomelic limb shortening with dysmorphic features		DOVES_relaxed.owl
MONDO:0032936	biolink:NamedThing	myopathy, congenital, with respiratory insufficiency and bone fractures		DOVES_relaxed.owl
MONDO:0032937	biolink:NamedThing	myopathy, congenital proximal, with minicore lesions		DOVES_relaxed.owl
MONDO:0033211	biolink:NamedThing	diencephalic-mesencephalic junction dysplasia syndrome		DOVES_relaxed.owl
MONDO:0033532	biolink:NamedThing	Suleiman-El-Hattab syndrome		DOVES_relaxed.owl
MONDO:0033543	biolink:NamedThing	cone-rod synaptic disorder syndrome, congenital nonprogressive		DOVES_relaxed.owl
MONDO:0033544	biolink:NamedThing	Tolchin-Le Caignec syndrome		DOVES_relaxed.owl
MONDO:0033546	biolink:NamedThing	neurodegeneration, infantile-onset, biotin-responsive		DOVES_relaxed.owl
MONDO:0033547	biolink:NamedThing	Li-Ghorbani-Weisz-Hubshman syndrome		DOVES_relaxed.owl
MONDO:0033548	biolink:NamedThing	myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies		DOVES_relaxed.owl
MONDO:0033558	biolink:NamedThing	autoinflammation, immune dysregulation, and eosinophilia		DOVES_relaxed.owl
MONDO:0033559	biolink:NamedThing	intellectual developmental disorder with seizures and language delay		DOVES_relaxed.owl
MONDO:0033560	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 35		DOVES_relaxed.owl
MONDO:0033561	biolink:NamedThing	deeah syndrome		DOVES_relaxed.owl
MONDO:0033569	biolink:NamedThing	combined oxidative phosphorylation deficiency 49		DOVES_relaxed.owl
MONDO:0033570	biolink:NamedThing	combined oxidative phosphorylation deficiency 50		DOVES_relaxed.owl
MONDO:0033572	biolink:NamedThing	intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies		DOVES_relaxed.owl
MONDO:0033618	biolink:NamedThing	Vissers-Bodmer syndrome		DOVES_relaxed.owl
MONDO:0033619	biolink:NamedThing	myopathy, epilepsy, and progressive cerebral atrophy		DOVES_relaxed.owl
MONDO:0033621	biolink:NamedThing	spinal muscular atrophy, infantile, James type		DOVES_relaxed.owl
MONDO:0033640	biolink:NamedThing	vitamin D-dependent rickets, type 3		DOVES_relaxed.owl
MONDO:0033641	biolink:NamedThing	cleft palate, proliferative retinopathy, and developmental delay		DOVES_relaxed.owl
MONDO:0033644	biolink:NamedThing	microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1		DOVES_relaxed.owl
MONDO:0033664	biolink:NamedThing	Kilquist syndrome	An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis.	DOVES_relaxed.owl
MONDO:0033667	biolink:NamedThing	Delpire-McNeill syndrome		DOVES_relaxed.owl
MONDO:0035534	biolink:NamedThing	DONSON-related microcephaly-short stature-limb abnormalities spectrum	A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.	DOVES_relaxed.owl
MONDO:0035660	biolink:NamedThing	GNAO1-related developmental delay-seizures-movement disorder spectrum		DOVES_relaxed.owl
MONDO:0036189	biolink:NamedThing	oculogastrointestinal-neurodevelopmental syndrome		DOVES_relaxed.owl
MONDO:0036192	biolink:NamedThing	EN1-related dorsoventral syndrome		DOVES_relaxed.owl
MONDO:0036193	biolink:NamedThing	parkinsonism with polyneuropathy		DOVES_relaxed.owl
MONDO:0036212	biolink:NamedThing	spastic paraparesis-cataracts-speech delay syndrome		DOVES_relaxed.owl
MONDO:0037940	biolink:NamedThing	inherited auditory system disease	An instance of auditory system disease that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0042966	biolink:NamedThing	inherited mitral valve disease	An instance of mitral valve disease that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0042973	biolink:NamedThing	familial osteosclerosis	An instance of osteosclerosis that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0044203	biolink:NamedThing	foveal hypoplasia	Underdevelopment of the fovea centralis.	DOVES_relaxed.owl
MONDO:0044302	biolink:NamedThing	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		DOVES_relaxed.owl
MONDO:0044303	biolink:NamedThing	congenital heart defects and ectodermal dysplasia		DOVES_relaxed.owl
MONDO:0044311	biolink:NamedThing	brachycephaly, trichomegaly, and developmental delay	BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}).	DOVES_relaxed.owl
MONDO:0044316	biolink:NamedThing	thrombocytopenia, anemia, and myelofibrosis		DOVES_relaxed.owl
MONDO:0044321	biolink:NamedThing	structural heart defects and renal anomalies syndrome		DOVES_relaxed.owl
MONDO:0044807	biolink:NamedThing	inherited dystonia	An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0056822	biolink:NamedThing	amyotonia congenita		DOVES_relaxed.owl
MONDO:0060456	biolink:NamedThing	cerebral sclerosis, diffuse, scholz type		DOVES_relaxed.owl
MONDO:0060457	biolink:NamedThing	autoinflammation with arthritis and dyskeratosis		DOVES_relaxed.owl
MONDO:0060507	biolink:NamedThing	retinal dystrophy with or without macular staphyloma		DOVES_relaxed.owl
MONDO:0060510	biolink:NamedThing	Cohen-Gibson syndrome		DOVES_relaxed.owl
MONDO:0060527	biolink:NamedThing	maleylacetoacetate isomerase deficiency		DOVES_relaxed.owl
MONDO:0060532	biolink:NamedThing	congenital heart defects and skeletal malformations syndrome		DOVES_relaxed.owl
MONDO:0060533	biolink:NamedThing	microcephaly, short stature, and limb abnormalities		DOVES_relaxed.owl
MONDO:0060549	biolink:NamedThing	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		DOVES_relaxed.owl
MONDO:0060551	biolink:NamedThing	cerebellar atrophy, developmental delay, and seizures		DOVES_relaxed.owl
MONDO:0060583	biolink:NamedThing	platelet abnormalities with eosinophilia and immune-mediated inflammatory disease		DOVES_relaxed.owl
MONDO:0060589	biolink:NamedThing	facial palsy, congenital, with ptosis and velopharyngeal dysfunction		DOVES_relaxed.owl
MONDO:0060591	biolink:NamedThing	immunodeficiency, developmental delay, and hypohomocysteinemia		DOVES_relaxed.owl
MONDO:0060592	biolink:NamedThing	Sweeney-Cox syndrome		DOVES_relaxed.owl
MONDO:0060611	biolink:NamedThing	combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		DOVES_relaxed.owl
MONDO:0060631	biolink:NamedThing	Alkuraya-Kucinskas syndrome		DOVES_relaxed.owl
MONDO:0060662	biolink:NamedThing	Diamond-Blackfan anemia-like		DOVES_relaxed.owl
MONDO:0060663	biolink:NamedThing	congenital heart defects, multiple types, 5		DOVES_relaxed.owl
MONDO:0060666	biolink:NamedThing	hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome		DOVES_relaxed.owl
MONDO:0060677	biolink:NamedThing	chromosome 1p35 deletion syndrome		DOVES_relaxed.owl
MONDO:0060688	biolink:NamedThing	hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency		DOVES_relaxed.owl
MONDO:0060707	biolink:NamedThing	Ververi-Brady syndrome		DOVES_relaxed.owl
MONDO:0060711	biolink:NamedThing	Jaberi-Elahi syndrome		DOVES_relaxed.owl
MONDO:0060713	biolink:NamedThing	deafness, congenital heart defects, and posterior embryotoxon		DOVES_relaxed.owl
MONDO:0060733	biolink:NamedThing	humerofemoral hypoplasia with radiotibial ray deficiency		DOVES_relaxed.owl
MONDO:0060745	biolink:NamedThing	intellectual developmental disorder with or without epilepsy or cerebellar ataxia		DOVES_relaxed.owl
MONDO:0060760	biolink:NamedThing	intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		DOVES_relaxed.owl
MONDO:0100039	biolink:NamedThing	CDKL5 disorder	A monogenic disease that has material basis in mutation in the CDKL5 gene.	DOVES_relaxed.owl
MONDO:0100045	biolink:NamedThing	epidermodysplasia verruciformis, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0100111	biolink:NamedThing	focal segmental glomerulosclerosis and neurodevelopmental syndrome	A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed.	DOVES_relaxed.owl
MONDO:0100118	biolink:NamedThing	genetic skin disorder	An instance of skin disease that is caused by a modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0100176	biolink:NamedThing	AP-4 deficiency syndrome	A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.	DOVES_relaxed.owl
MONDO:0100191	biolink:NamedThing	inherited kidney disorder	A type of genetic disorder manifestations of primary clinical importance in the and that primarily results from alterations in one gene or from an alternation of the genome affecting one or more gene or functional element. Said genetic or genomic alteration may be inherited from one or both parents or may occur de novo.	DOVES_relaxed.owl
MONDO:0100198	biolink:NamedThing	Mendelian encephalopathy	An instance of encephalopathy that is caused by an inherited genomic modification in an individual.	DOVES_relaxed.owl
MONDO:0100209	biolink:NamedThing	X inactivation, familial skewed		DOVES_relaxed.owl
MONDO:0100210	biolink:NamedThing	growth hormone insensitivity syndrome with immune dysregulation		DOVES_relaxed.owl
MONDO:0100214	biolink:NamedThing	Rajab interstitial lung disease with brain calcifications		DOVES_relaxed.owl
MONDO:0100239	biolink:NamedThing	inherited hypertrophic pyloric stenosis	An instance of hypertrophic pyloric stenosis that is inherited.	DOVES_relaxed.owl
MONDO:0100241	biolink:NamedThing	inherited thrombocytopenia	An instance of thrombocytopenia that is inherited.	DOVES_relaxed.owl
MONDO:0100247	biolink:NamedThing	multiple congenital anomalies-hypotonia-seizures syndrome		DOVES_relaxed.owl
MONDO:0100309	biolink:NamedThing	hereditary ataxia	An instance of an atactic disorder that is caused by an inherited genomic modification in an individual.	DOVES_relaxed.owl
MONDO:0100328	biolink:NamedThing	microcephaly, epilepsy, and diabetes syndrome		DOVES_relaxed.owl
MONDO:0100337	biolink:NamedThing	SEC61A1 deficiency	Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia.	DOVES_relaxed.owl
MONDO:0100457	biolink:NamedThing	achalasia, familial esophageal	An instance of achalsia that is caused by an inherited genomic modification in an individual.	DOVES_relaxed.owl
MONDO:0100458	biolink:NamedThing	MECOM-associated syndrome	Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss.	DOVES_relaxed.owl
MONDO:0100500	biolink:NamedThing	Mendelian neurodevelopmental disorder	A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome.	DOVES_relaxed.owl
MONDO:0700120	biolink:NamedThing	BAFopathy	Disorder caused by mutations in the various subunits composing the BAF complex.	DOVES_relaxed.owl
MONDO:0800031	biolink:NamedThing	central hypoventilation syndrome, congenital		DOVES_relaxed.owl
MONDO:0800132	biolink:NamedThing	autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency	An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy.	DOVES_relaxed.owl
MONDO:0800296	biolink:NamedThing	microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2		DOVES_relaxed.owl
MONDO:0800299	biolink:NamedThing	myopathy, congenital, with excess of muscle spindles		DOVES_relaxed.owl
MONDO:0800408	biolink:NamedThing	urogenital adysplasia		DOVES_relaxed.owl
MONDO:0800412	biolink:NamedThing	yakut short stature syndrome		DOVES_relaxed.owl
MONDO:0000014	biolink:NamedThing	colorblindness, partial		DOVES_relaxed.owl
MONDO:0001703	biolink:NamedThing	color vision disorder	The absence of or defect in the perception of colors.	DOVES_relaxed.owl
MONDO:0001828	biolink:NamedThing	acquired color blindness	Non-heritable difficulty in distinguishing colors.	DOVES_relaxed.owl
MONDO:0008610	biolink:NamedThing	blue color blindness	Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision.	DOVES_relaxed.owl
MONDO:0010565	biolink:NamedThing	red color blindness	Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males.	DOVES_relaxed.owl
MONDO:0018852	biolink:NamedThing	achromatopsia	Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.	DOVES_relaxed.owl
MONDO:0800197	biolink:NamedThing	achromatopsia 6		DOVES_relaxed.owl
MONDO:0000015	biolink:NamedThing	classic complement early component deficiency	A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response.	DOVES_relaxed.owl
MONDO:0003832	biolink:NamedThing	complement deficiency	A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited.	DOVES_relaxed.owl
MONDO:0012594	biolink:NamedThing	complement factor I deficiency		DOVES_relaxed.owl
MONDO:0013487	biolink:NamedThing	recurrent Neisseria infections due to factor D deficiency		DOVES_relaxed.owl
MONDO:0015699	biolink:NamedThing	immunodeficiency due to a classical component pathway complement deficiency		DOVES_relaxed.owl
MONDO:0015700	biolink:NamedThing	immunodeficiency due to a late component of complement deficiency	A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection.	DOVES_relaxed.owl
MONDO:0016244	biolink:NamedThing	atypical hemolytic-uremic syndrome	Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.	DOVES_relaxed.owl
MONDO:0022812	biolink:NamedThing	complement receptor deficiency	A disorder with basis in disruption of a complement receptor.	DOVES_relaxed.owl
MONDO:0044209	biolink:NamedThing	disorder of lectin complement activation pathway	A disease that has its basis in the disruption of complement activation, lectin pathway.	DOVES_relaxed.owl
MONDO:0000022	biolink:NamedThing	nocturnal enuresis	Urination during sleep.	DOVES_relaxed.owl
MONDO:0024290	biolink:NamedThing	enuresis	An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years).	DOVES_relaxed.owl
MONDO:0000023	biolink:NamedThing	infantile liver failure		DOVES_relaxed.owl
MONDO:0009105	biolink:NamedThing	trichohepatoenteric syndrome	A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.	DOVES_relaxed.owl
MONDO:0013771	biolink:NamedThing	transient infantile hypertriglyceridemia and hepatosteatosis		DOVES_relaxed.owl
MONDO:0014744	biolink:NamedThing	acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.	DOVES_relaxed.owl
MONDO:0014911	biolink:NamedThing	growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.	DOVES_relaxed.owl
MONDO:0018317	biolink:NamedThing	growth retardation-mild developmental delay-chronic hepatitis syndrome		DOVES_relaxed.owl
MONDO:0018346	biolink:NamedThing	ferro-cerebro-cutaneous syndrome		DOVES_relaxed.owl
MONDO:0000030	biolink:NamedThing	sleep-related hypermotor epilepsy		DOVES_relaxed.owl
MONDO:0002612	biolink:NamedThing	frontal lobe epilepsy	A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)	DOVES_relaxed.owl
MONDO:0020300	biolink:NamedThing	autosomal dominant nocturnal frontal lobe epilepsy	Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.	DOVES_relaxed.owl
MONDO:0041284	biolink:NamedThing	primary motor cortex epilepsy	A epilepsy that involves the primary motor cortex.	DOVES_relaxed.owl
MONDO:0017704	biolink:NamedThing	familial partial epilepsy	An instance of partial epilepsy that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0005115	biolink:NamedThing	temporal lobe epilepsy	A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)	DOVES_relaxed.owl
MONDO:0007295	biolink:NamedThing	childhood epilepsy with centrotemporal spikes	A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit.	DOVES_relaxed.owl
MONDO:0009696	biolink:NamedThing	juvenile myoclonic epilepsy	Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).	DOVES_relaxed.owl
MONDO:0012276	biolink:NamedThing	generalized epilepsy-paroxysmal dyskinesia syndrome	Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0013742	biolink:NamedThing	familial mesial temporal lobe epilepsy with febrile seizures		DOVES_relaxed.owl
MONDO:0015586	biolink:NamedThing	benign familial mesial temporal lobe epilepsy	Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.	DOVES_relaxed.owl
MONDO:0020310	biolink:NamedThing	familial focal epilepsy with variable foci	Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.	DOVES_relaxed.owl
MONDO:0020476	biolink:NamedThing	mesial temporal lobe epilepsy with hippocampal sclerosis	Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.	DOVES_relaxed.owl
MONDO:0024300	biolink:NamedThing	hypophosphatemic rickets	Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.	DOVES_relaxed.owl
MONDO:0018612	biolink:NamedThing	congenital hypothyroidism	A thyroid hormone deficiency present from birth.	DOVES_relaxed.owl
MONDO:0015792	biolink:NamedThing	transient congenital hypothyroidism	A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone.	DOVES_relaxed.owl
MONDO:0016408	biolink:NamedThing	permanent congenital hypothyroidism	Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.	DOVES_relaxed.owl
MONDO:0019858	biolink:NamedThing	idiopathic congenital hypothyroidism	Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown.	DOVES_relaxed.owl
MONDO:0043103	biolink:NamedThing	hypothyroidism due to iodide transport defect	A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.	DOVES_relaxed.owl
MONDO:0000050	biolink:NamedThing	isolated congenital growth hormone deficiency		DOVES_relaxed.owl
MONDO:0013099	biolink:NamedThing	combined pituitary hormone deficiencies, genetic form	Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.	DOVES_relaxed.owl
MONDO:0008428	biolink:NamedThing	septooptic dysplasia	Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.	DOVES_relaxed.owl
MONDO:0009091	biolink:NamedThing	non-acquired combined pituitary hormone deficiency with spine abnormalities	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.	DOVES_relaxed.owl
MONDO:0009880	biolink:NamedThing	short stature-pituitary and cerebellar defects-small sella turcica syndrome	Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).	DOVES_relaxed.owl
MONDO:0013518	biolink:NamedThing	pituitary hormone deficiency, combined, 6	Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene.	DOVES_relaxed.owl
MONDO:0019591	biolink:NamedThing	panhypopituitarism	Insufficient production of all the anterior pituitary hormones.	DOVES_relaxed.owl
MONDO:0024464	biolink:NamedThing	pituitary hormone deficiency, combined, 1	Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene.	DOVES_relaxed.owl
MONDO:0000060	biolink:NamedThing	microcephalic osteodysplastic primordial dwarfism		DOVES_relaxed.owl
MONDO:0001149	biolink:NamedThing	microcephaly	A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.	DOVES_relaxed.owl
MONDO:0000181	biolink:NamedThing	microcephaly and chorioretinopathy		DOVES_relaxed.owl
MONDO:0000208	biolink:NamedThing	microcephaly, short stature, and impaired glucose metabolism 1		DOVES_relaxed.owl
MONDO:0013254	biolink:NamedThing	microcephaly, seizures, and developmental delay		DOVES_relaxed.owl
MONDO:0014785	biolink:NamedThing	microcephaly, short stature, and impaired glucose metabolism 2	Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene.	DOVES_relaxed.owl
MONDO:0016056	biolink:NamedThing	isolated congenital microcephaly		DOVES_relaxed.owl
MONDO:0043137	biolink:NamedThing	isolated microcephaly		DOVES_relaxed.owl
MONDO:0100200	biolink:NamedThing	microcephaly with intellectual disability	Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes.	DOVES_relaxed.owl
MONDO:0700116	biolink:NamedThing	microcephaly with lissencephaly and/or hydranencephaly	A brain disorder caused by biallelic variants in NDE1 that is characterized by extreme microcephaly (typically head circumference of more than 10 standard deviations (SD) below the mean), profound motor and intellectual disability, spasticity, and incomplete cerebral formation. Radiologic studies demonstrate overt microcephaly with cortical dysgenesis ranging from simplification to pachygyria/lissencephaly to hydranencephaly. Agenesis of the corpus callosum as well as hypoplasia of the brainstem and cerebellum are typically present.	DOVES_relaxed.owl
MONDO:0021129	biolink:NamedThing	microphthalmia	Congenital or developmental anomaly in which the eyeballs are abnormally small.	DOVES_relaxed.owl
MONDO:0023538	biolink:NamedThing	Kaplowitz-Bodurtha syndrome		DOVES_relaxed.owl
MONDO:0043135	biolink:NamedThing	microcephaly microphthalmos blindness		DOVES_relaxed.owl
MONDO:0000065	biolink:NamedThing	microvascular complications of diabetes, susceptibility		DOVES_relaxed.owl
MONDO:0020573	biolink:NamedThing	inherited disease susceptibility	A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.	DOVES_relaxed.owl
MONDO:0000070	biolink:NamedThing	mycobacterium tuberculosis, susceptibility		DOVES_relaxed.owl
MONDO:0000093	biolink:NamedThing	Schistosoma mansoni infection, susceptibility		DOVES_relaxed.owl
MONDO:0000108	biolink:NamedThing	bacteremia, susceptibility		DOVES_relaxed.owl
MONDO:0000144	biolink:NamedThing	pregnancy loss, recurrent, susceptibility		DOVES_relaxed.owl
MONDO:0000162	biolink:NamedThing	autoimmune thyroid disease, susceptibility to		DOVES_relaxed.owl
MONDO:0003582	biolink:NamedThing	hereditary breast ovarian cancer syndrome	An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.	DOVES_relaxed.owl
MONDO:0007148	biolink:NamedThing	appendicitis, proneness to		DOVES_relaxed.owl
MONDO:0007169	biolink:NamedThing	atherosclerosis susceptibility		DOVES_relaxed.owl
MONDO:0007190	biolink:NamedThing	leukemia, chronic lymphocytic, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0007462	biolink:NamedThing	multiple sclerosis, susceptibility to		DOVES_relaxed.owl
MONDO:0007487	biolink:NamedThing	dyslexia, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0007541	biolink:NamedThing	endometriosis, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0007573	biolink:NamedThing	erythroleukemia, familial, susceptibility to	An inherited susceptibility or predisposition to developing acute erythroleukemia in which the cause of the disease is a variation in the ERBB3 gene.	DOVES_relaxed.owl
MONDO:0007704	biolink:NamedThing	osteoarthritis susceptibility 2		DOVES_relaxed.owl
MONDO:0007781	biolink:NamedThing	essential hypertension, genetic	An instance of essential hypertension that is caused by a modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0007845	biolink:NamedThing	Kaposi sarcoma, susceptibility to		DOVES_relaxed.owl
MONDO:0007966	biolink:NamedThing	susceptibility to uveal melanoma		DOVES_relaxed.owl
MONDO:0008067	biolink:NamedThing	nasopharyngeal carcinoma, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0008072	biolink:NamedThing	IgA nephropathy, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0008143	biolink:NamedThing	osteoarthritis susceptibility 1	Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene.	DOVES_relaxed.owl
MONDO:0008162	biolink:NamedThing	otitis media, susceptibility to		DOVES_relaxed.owl
MONDO:0008313	biolink:NamedThing	pelvic organ prolapse, susceptibility to		DOVES_relaxed.owl
MONDO:0008344	biolink:NamedThing	pulmonary edema of mountaineers, susceptibility to		DOVES_relaxed.owl
MONDO:0008399	biolink:NamedThing	sarcoidosis, susceptibility to, 1	Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.	DOVES_relaxed.owl
MONDO:0008419	biolink:NamedThing	scoliosis, isolated, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0008498	biolink:NamedThing	strabismus, susceptibility to		DOVES_relaxed.owl
MONDO:0008570	biolink:NamedThing	thyrotoxic periodic paralysis, susceptibility to, 1	Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene.	DOVES_relaxed.owl
MONDO:0008930	biolink:NamedThing	celiac disease, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0009335	biolink:NamedThing	hemolytic uremic syndrome, atypical, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0009409	biolink:NamedThing	hypervitaminosis a, susceptibility to		DOVES_relaxed.owl
MONDO:0009741	biolink:NamedThing	neuroblastoma, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0009789	biolink:NamedThing	nonarteritic anterior ischemic optic neuropathy, susceptibility to		DOVES_relaxed.owl
MONDO:0010255	biolink:NamedThing	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		DOVES_relaxed.owl
MONDO:0010331	biolink:NamedThing	coronary heart disease, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0010348	biolink:NamedThing	dyslexia, susceptibility to, 9		DOVES_relaxed.owl
MONDO:0010433	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 15		DOVES_relaxed.owl
MONDO:0010640	biolink:NamedThing	Leber optic atrophy, susceptibility to		DOVES_relaxed.owl
MONDO:0010843	biolink:NamedThing	dyslexia, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0010918	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0011037	biolink:NamedThing	renal dysplasia, cystic, susceptibility to		DOVES_relaxed.owl
MONDO:0011138	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 1	Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene.	DOVES_relaxed.owl
MONDO:0011179	biolink:NamedThing	leishmaniasis, tegumentary, susceptibility to		DOVES_relaxed.owl
MONDO:0011207	biolink:NamedThing	xanthomatosis, susceptibility to		DOVES_relaxed.owl
MONDO:0011237	biolink:NamedThing	hyperlipidemia, combined, 1	An inherited susceptibility or predisposition to developing familial combined hyperlipidemia, in which the cause of the disease is a mutation in the USF1 gene.	DOVES_relaxed.owl
MONDO:0011361	biolink:NamedThing	prostate cancer/brain cancer susceptibility		DOVES_relaxed.owl
MONDO:0011384	biolink:NamedThing	hypertension, essential, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0011418	biolink:NamedThing	dyslexia, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0011440	biolink:NamedThing	hypertension, essential, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0011491	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 7		DOVES_relaxed.owl
MONDO:0011520	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0011560	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0011622	biolink:NamedThing	nephrolithiasis, uric acid, susceptibility to		DOVES_relaxed.owl
MONDO:0011649	biolink:NamedThing	AVSD 1		DOVES_relaxed.owl
MONDO:0011650	biolink:NamedThing	atrioventricular septal defect, susceptibility to, 2	Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene.	DOVES_relaxed.owl
MONDO:0011684	biolink:NamedThing	vitiligo-associated multiple autoimmune disease susceptibility 1		DOVES_relaxed.owl
MONDO:0011685	biolink:NamedThing	polysubstance abuse, susceptibility to		DOVES_relaxed.owl
MONDO:0011689	biolink:NamedThing	dyslexia, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0011693	biolink:NamedThing	glaucoma, normal tension, susceptibility to		DOVES_relaxed.owl
MONDO:0011727	biolink:NamedThing	anorexia nervosa, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0011729	biolink:NamedThing	stroke, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0011739	biolink:NamedThing	pancreatic cancer, susceptibility to, 1	Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene.	DOVES_relaxed.owl
MONDO:0011747	biolink:NamedThing	dyslexia, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0011753	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0011775	biolink:NamedThing	nasopharyngeal carcinoma, susceptibility to, 1	Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene.	DOVES_relaxed.owl
MONDO:0011793	biolink:NamedThing	celiac disease, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0011807	biolink:NamedThing	systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0011815	biolink:NamedThing	hypertension, essential, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0011817	biolink:NamedThing	coronary heart disease, susceptibility to, 1	Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene.	DOVES_relaxed.owl
MONDO:0011820	biolink:NamedThing	scoliosis, isolated, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0011846	biolink:NamedThing	bulimia nervosa, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0011860	biolink:NamedThing	leprosy, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0011875	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 11	An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene.	DOVES_relaxed.owl
MONDO:0011876	biolink:NamedThing	juvenile absence epilepsy	Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.	DOVES_relaxed.owl
MONDO:0011892	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 9	Any generalised epilepsy in which the cause of the disease is a mutation in the CACNB4 gene.	DOVES_relaxed.owl
MONDO:0011896	biolink:NamedThing	Parkinson disease 11, autosomal dominant, susceptibility to	An inherited susceptibility or predisposition to developing late onset Parkinson disease, in which the cause of the disease is a mutation in the GIGYF2 gene.	DOVES_relaxed.owl
MONDO:0011917	biolink:NamedThing	focal segmental glomerulosclerosis 3, susceptibility to	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene.	DOVES_relaxed.owl
MONDO:0011919	biolink:NamedThing	autoimmune disease, susceptibility to, 1	Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene.	DOVES_relaxed.owl
MONDO:0011923	biolink:NamedThing	osteoarthritis susceptibility 3	Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene.	DOVES_relaxed.owl
MONDO:0011931	biolink:NamedThing	ovarian cancer, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0011942	biolink:NamedThing	systemic lupus erythematosus with nephritis, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0011943	biolink:NamedThing	systemic lupus erythematosus with nephritis, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0011944	biolink:NamedThing	systemic lupus erythematosus with nephritis, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0012009	biolink:NamedThing	coronary heart disease, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0012010	biolink:NamedThing	coronary heart disease, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0012027	biolink:NamedThing	autoimmune disease, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0012028	biolink:NamedThing	autoimmune disease, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0012036	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0012039	biolink:NamedThing	myocardial infarction, susceptibility to		DOVES_relaxed.owl
MONDO:0012050	biolink:NamedThing	major depressive disorder 1		DOVES_relaxed.owl
MONDO:0012057	biolink:NamedThing	legionnaire disease, susceptibility to		DOVES_relaxed.owl
MONDO:0012058	biolink:NamedThing	myocardial infarction, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0012100	biolink:NamedThing	major depressive disorder 2		DOVES_relaxed.owl
MONDO:0012109	biolink:NamedThing	hypertension, essential, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0012113	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0012115	biolink:NamedThing	scoliosis, isolated, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0012132	biolink:NamedThing	colorectal cancer, susceptibility to, 1	Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene.	DOVES_relaxed.owl
MONDO:0012134	biolink:NamedThing	myoclonic epilepsy, juvenile, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0012141	biolink:NamedThing	orofacial cleft 6, susceptibility to	Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene.	DOVES_relaxed.owl
MONDO:0012147	biolink:NamedThing	coronary heart disease, susceptibility to, 5	Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene.	DOVES_relaxed.owl
MONDO:0012149	biolink:NamedThing	attention deficit-hyperactivity disorder, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0012150	biolink:NamedThing	attention deficit-hyperactivity disorder, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0012151	biolink:NamedThing	attention deficit-hyperactivity disorder, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0012152	biolink:NamedThing	attention deficit-hyperactivity disorder, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0012153	biolink:NamedThing	Alzheimer disease 9		DOVES_relaxed.owl
MONDO:0012159	biolink:NamedThing	lung cancer susceptibility 1		DOVES_relaxed.owl
MONDO:0012168	biolink:NamedThing	dyslexia, susceptibility to, 8		DOVES_relaxed.owl
MONDO:0012263	biolink:NamedThing	autoimmune disease, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0012318	biolink:NamedThing	leukemia, chronic lymphocytic, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0012338	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0012339	biolink:NamedThing	celiac disease, susceptibility to, 4	Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene.	DOVES_relaxed.owl
MONDO:0012340	biolink:NamedThing	celiac disease, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0012341	biolink:NamedThing	celiac disease, susceptibility to, 3	Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene.	DOVES_relaxed.owl
MONDO:0012361	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0012369	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0012402	biolink:NamedThing	opioid dependence, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0012403	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 7		DOVES_relaxed.owl
MONDO:0012404	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 8		DOVES_relaxed.owl
MONDO:0012458	biolink:NamedThing	hypertension, essential, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0012459	biolink:NamedThing	hypertension, essential, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0012466	biolink:NamedThing	Parkinson disease 13, autosomal dominant, susceptibility to	Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene.	DOVES_relaxed.owl
MONDO:0012488	biolink:NamedThing	hepatitis B virus, susceptibility to		DOVES_relaxed.owl
MONDO:0012568	biolink:NamedThing	osteoarthritis susceptibility 4		DOVES_relaxed.owl
MONDO:0012584	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 9	Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene.	DOVES_relaxed.owl
MONDO:0012585	biolink:NamedThing	coronary heart disease, susceptibility to, 7	Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene.	DOVES_relaxed.owl
MONDO:0012587	biolink:NamedThing	hypertension, essential, susceptibility to, 7		DOVES_relaxed.owl
MONDO:0012599	biolink:NamedThing	hypertension, essential, susceptibility to, 8		DOVES_relaxed.owl
MONDO:0012627	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 13	An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene.	DOVES_relaxed.owl
MONDO:0012628	biolink:NamedThing	coronary heart disease, susceptibility to, 8		DOVES_relaxed.owl
MONDO:0012655	biolink:NamedThing	myoclonic epilepsy, juvenile, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0012673	biolink:NamedThing	colorectal cancer, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0012702	biolink:NamedThing	celiac disease, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0012760	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0012763	biolink:NamedThing	epilepsy, childhood absence, susceptibility to, 6	An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene.	DOVES_relaxed.owl
MONDO:0012776	biolink:NamedThing	celiac disease, susceptibility to, 7		DOVES_relaxed.owl
MONDO:0012777	biolink:NamedThing	celiac disease, susceptibility to, 8		DOVES_relaxed.owl
MONDO:0012778	biolink:NamedThing	celiac disease, susceptibility to, 9		DOVES_relaxed.owl
MONDO:0012779	biolink:NamedThing	celiac disease, susceptibility to, 10		DOVES_relaxed.owl
MONDO:0012780	biolink:NamedThing	celiac disease, susceptibility to, 11		DOVES_relaxed.owl
MONDO:0012781	biolink:NamedThing	celiac disease, susceptibility to, 12		DOVES_relaxed.owl
MONDO:0012782	biolink:NamedThing	celiac disease, susceptibility to, 13		DOVES_relaxed.owl
MONDO:0012788	biolink:NamedThing	coronary heart disease, susceptibility to, 9		DOVES_relaxed.owl
MONDO:0012820	biolink:NamedThing	colorectal cancer, susceptibility to, 3	Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene.	DOVES_relaxed.owl
MONDO:0012821	biolink:NamedThing	colorectal cancer, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0012822	biolink:NamedThing	colorectal cancer, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0012823	biolink:NamedThing	colorectal cancer, susceptibility to, 7		DOVES_relaxed.owl
MONDO:0012826	biolink:NamedThing	scoliosis, isolated, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0012827	biolink:NamedThing	scoliosis, isolated, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0012834	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 10	Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene.	DOVES_relaxed.owl
MONDO:0012835	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 11	Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene.	DOVES_relaxed.owl
MONDO:0012836	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 12		DOVES_relaxed.owl
MONDO:0012843	biolink:NamedThing	epilepsy, childhood absence, susceptibility to, 5	Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene.	DOVES_relaxed.owl
MONDO:0012862	biolink:NamedThing	attention deficit-hyperactivity disorder, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0012863	biolink:NamedThing	attention deficit-hyperactivity disorder, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0012884	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 13		DOVES_relaxed.owl
MONDO:0012888	biolink:NamedThing	sarcoidosis, susceptibility to, 2	Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.	DOVES_relaxed.owl
MONDO:0012889	biolink:NamedThing	sarcoidosis, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0012893	biolink:NamedThing	osteoarthritis susceptibility 5	Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene.	DOVES_relaxed.owl
MONDO:0012894	biolink:NamedThing	osteoarthritis susceptibility 6		DOVES_relaxed.owl
MONDO:0012931	biolink:NamedThing	focal segmental glomerulosclerosis 4, susceptibility to	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene.	DOVES_relaxed.owl
MONDO:0012934	biolink:NamedThing	leukemia, chronic lymphocytic, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0012935	biolink:NamedThing	leukemia, chronic lymphocytic, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0012936	biolink:NamedThing	leukemia, chronic lymphocytic, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0012942	biolink:NamedThing	lung cancer susceptibility 3		DOVES_relaxed.owl
MONDO:0012951	biolink:NamedThing	colorectal cancer, susceptibility to, 8		DOVES_relaxed.owl
MONDO:0012952	biolink:NamedThing	colorectal cancer, susceptibility to, 9		DOVES_relaxed.owl
MONDO:0012953	biolink:NamedThing	colorectal cancer, susceptibility to, 10	Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene.	DOVES_relaxed.owl
MONDO:0012954	biolink:NamedThing	colorectal cancer, susceptibility to, 11		DOVES_relaxed.owl
MONDO:0012955	biolink:NamedThing	lung cancer susceptibility 4		DOVES_relaxed.owl
MONDO:0013032	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 8	Any generalised epilepsy in which the cause of the disease is a mutation in the CASR gene.	DOVES_relaxed.owl
MONDO:0013076	biolink:NamedThing	attention deficit-hyperactivity disorder, susceptibility to, 7		DOVES_relaxed.owl
MONDO:0013083	biolink:NamedThing	neuroblastoma, susceptibility to, 3	Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene.	DOVES_relaxed.owl
MONDO:0013084	biolink:NamedThing	neuroblastoma, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0013085	biolink:NamedThing	neuroblastoma, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0013086	biolink:NamedThing	neuroblastoma, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0013088	biolink:NamedThing	follicular lymphoma, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0013103	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 10	An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene.	DOVES_relaxed.owl
MONDO:0013108	biolink:NamedThing	leukemia, acute lymphocytic, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0013109	biolink:NamedThing	leukemia, acute lymphocytic, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0013124	biolink:NamedThing	pelvic organ prolapse, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0013152	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 14		DOVES_relaxed.owl
MONDO:0013193	biolink:NamedThing	thyrotoxic periodic paralysis, susceptibility to, 2	Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene.	DOVES_relaxed.owl
MONDO:0013235	biolink:NamedThing	pancreatic cancer, susceptibility to, 2	Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene.	DOVES_relaxed.owl
MONDO:0013236	biolink:NamedThing	pancreatic cancer, susceptibility to, 3	Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene.	DOVES_relaxed.owl
MONDO:0013237	biolink:NamedThing	susceptibility to mononeuropathy of the median nerve, mild		DOVES_relaxed.owl
MONDO:0013246	biolink:NamedThing	fatty liver disease, nonalcoholic, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0013303	biolink:NamedThing	autoimmune disease, susceptibility to, 6	Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene.	DOVES_relaxed.owl
MONDO:0013340	biolink:NamedThing	Parkinson disease 5, autosomal dominant, susceptibility to	An inherited susceptibility or predisposition to developing young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene.	DOVES_relaxed.owl
MONDO:0013496	biolink:NamedThing	IgA nephropathy, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0013524	biolink:NamedThing	bleeding diathesis due to thromboxane synthesis deficiency		DOVES_relaxed.owl
MONDO:0013562	biolink:NamedThing	aspergillosis, susceptibility to		DOVES_relaxed.owl
MONDO:0013568	biolink:NamedThing	sick sinus syndrome 3, susceptibility to	Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene.	DOVES_relaxed.owl
MONDO:0013631	biolink:NamedThing	lung cancer susceptibility 5		DOVES_relaxed.owl
MONDO:0013653	biolink:NamedThing	Parkinson disease 18, autosomal dominant, susceptibility to	Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene.	DOVES_relaxed.owl
MONDO:0013665	biolink:NamedThing	epilepsy, juvenile myoclonic, susceptibility to, 9		DOVES_relaxed.owl
MONDO:0013685	biolink:NamedThing	pancreatic cancer, susceptibility to, 4	Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene.	DOVES_relaxed.owl
MONDO:0013713	biolink:NamedThing	dengue virus, susceptibility to		DOVES_relaxed.owl
MONDO:0013765	biolink:NamedThing	coronary heart disease, susceptibility to, 6	Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene.	DOVES_relaxed.owl
MONDO:0013814	biolink:NamedThing	podoconiosis, susceptibility to		DOVES_relaxed.owl
MONDO:0013846	biolink:NamedThing	peripartum cardiomyopathy, susceptibility to		DOVES_relaxed.owl
MONDO:0013908	biolink:NamedThing	thyrotoxic periodic paralysis, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0013919	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 12		DOVES_relaxed.owl
MONDO:0014038	biolink:NamedThing	colorectal cancer, susceptibility to, 12	Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene.	DOVES_relaxed.owl
MONDO:0014151	biolink:NamedThing	pulmonary hypertension, neonatal, susceptibility to		DOVES_relaxed.owl
MONDO:0014232	biolink:NamedThing	craniosynostosis 5, susceptibility to	Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene.	DOVES_relaxed.owl
MONDO:0014251	biolink:NamedThing	melioidosis, susceptibility to		DOVES_relaxed.owl
MONDO:0014281	biolink:NamedThing	cholangiocarcinoma, susceptibility to		DOVES_relaxed.owl
MONDO:0014519	biolink:NamedThing	chronic mountain sickness, susceptibility to		DOVES_relaxed.owl
MONDO:0014734	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 14		DOVES_relaxed.owl
MONDO:0014774	biolink:NamedThing	neuroblastoma, susceptibility to, 7		DOVES_relaxed.owl
MONDO:0014786	biolink:NamedThing	IgA nephropathy, susceptibility to, 3	Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene.	DOVES_relaxed.owl
MONDO:0014902	biolink:NamedThing	nasopharyngeal carcinoma, susceptibility to, 3	Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene.	DOVES_relaxed.owl
MONDO:0015979	biolink:NamedThing	hereditary predisposition to infections		DOVES_relaxed.owl
MONDO:0020705	biolink:NamedThing	neural tube defects, susceptibility to		DOVES_relaxed.owl
MONDO:0020715	biolink:NamedThing	multiple system atrophy 1, susceptibility to		DOVES_relaxed.owl
MONDO:0020722	biolink:NamedThing	nephrolithiasis susceptibility caused by SLC26A1		DOVES_relaxed.owl
MONDO:0020752	biolink:NamedThing	myoclonic epilepsy, juvenile, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0020759	biolink:NamedThing	epilepsy, childhood absence, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0020772	biolink:NamedThing	epilepsy, juvenile absence, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0020836	biolink:NamedThing	autism, susceptiblity to		DOVES_relaxed.owl
MONDO:0021024	biolink:NamedThing	malaria, susceptibility to		DOVES_relaxed.owl
MONDO:0024462	biolink:NamedThing	familial cutaneous melanoma	An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0024512	biolink:NamedThing	spondyloarthropathy, susceptibility to		DOVES_relaxed.owl
MONDO:0030434	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 18		DOVES_relaxed.owl
MONDO:0035547	biolink:NamedThing	predisposition to severe viral infection due to IRF7 deficiency		DOVES_relaxed.owl
MONDO:0035548	biolink:NamedThing	autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency		DOVES_relaxed.owl
MONDO:0044301	biolink:NamedThing	aortic aneurysm, familial thoracic 11, susceptibility to		DOVES_relaxed.owl
MONDO:0044315	biolink:NamedThing	craniosynostosis 7	Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100).	DOVES_relaxed.owl
MONDO:0054750	biolink:NamedThing	amyotrophic lateral sclerosis, susceptibility to, 24		DOVES_relaxed.owl
MONDO:0060670	biolink:NamedThing	amyotrophic lateral sclerosis, susceptibility to, 25		DOVES_relaxed.owl
MONDO:0060671	biolink:NamedThing	epilepsy, juvenile myoclonic, susceptibility to, 10		DOVES_relaxed.owl
MONDO:0100003	biolink:NamedThing	susceptibility to angioedema induced by ACE inhibitors	An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema.	DOVES_relaxed.owl
MONDO:0100043	biolink:NamedThing	epidermodysplasia verruciformis, susceptibility to		DOVES_relaxed.owl
MONDO:0100046	biolink:NamedThing	exfoliation syndrome, susceptibility to	An inherited susceptibility or predisposition to developing exfoliation syndrome.	DOVES_relaxed.owl
MONDO:0100047	biolink:NamedThing	basal cell carcinoma, susceptibility to	An inherited susceptibility or predisposition to developing basal cell carcinoma.	DOVES_relaxed.owl
MONDO:0100048	biolink:NamedThing	graft-versus-host disease, susceptibility to	An inherited susceptibility or predisposition to developing graft vs. host disease.	DOVES_relaxed.owl
MONDO:0100049	biolink:NamedThing	narcolepsy, susceptibility to	An inherited susceptibility or predisposition to developing narcolepsy.	DOVES_relaxed.owl
MONDO:0100167	biolink:NamedThing	pulmonary disease, chronic obstructive, susceptibility to	An inherited susceptibility or predisposition to developing COPD.	DOVES_relaxed.owl
MONDO:0100170	biolink:NamedThing	restless legs syndrome, susceptibility to	An inherited susceptibility or predisposition to developing restless legs syndrome.	DOVES_relaxed.owl
MONDO:0100171	biolink:NamedThing	psoriasis, susceptibility to	An inherited susceptibility or predisposition to developing psoriasis.	DOVES_relaxed.owl
MONDO:0100173	biolink:NamedThing	leukemia, acute myeloid, susceptibility to	An inherited susceptibility or predisposition to developing leukemia, acute myeloid.	DOVES_relaxed.owl
MONDO:0100174	biolink:NamedThing	age related macular degeneration, susceptibility to	An inherited susceptibility or predisposition to developing age related macular degeneration.	DOVES_relaxed.owl
MONDO:0100177	biolink:NamedThing	allergic rhinitis, susceptibility to	An inherited susceptibility or predisposition to developing allergic rhinitis.	DOVES_relaxed.owl
MONDO:0100178	biolink:NamedThing	dermatitis, atopic, susceptibility to	An inherited susceptibility or predisposition to developing atopic dermatitis.	DOVES_relaxed.owl
MONDO:0100179	biolink:NamedThing	Hirschsprung disease, susceptibility to	An inherited susceptibility or predisposition to developing Hirschsprung disease.	DOVES_relaxed.owl
MONDO:0100180	biolink:NamedThing	diabetes mellitus, ketosis-prone	An inherited susceptibility or predisposition to developing diabetes mellitus, ketosis.	DOVES_relaxed.owl
MONDO:0100182	biolink:NamedThing	schizophrenia, susceptibility to	An inherited susceptibility or predisposition to developing schizophrenia.	DOVES_relaxed.owl
MONDO:0100183	biolink:NamedThing	radioulnar synostosis, nonsyndromic, susceptibility to	A susceptibility or predisposition to radioulnar synostosis in which the cause of the disease is a mutation in the SMAD6 gene.	DOVES_relaxed.owl
MONDO:0100199	biolink:NamedThing	diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate		DOVES_relaxed.owl
MONDO:0100202	biolink:NamedThing	lumbar disc herniation, susceptibility to		DOVES_relaxed.owl
MONDO:0100206	biolink:NamedThing	lumbar disc degeneration, susceptibility to		DOVES_relaxed.owl
MONDO:0100216	biolink:NamedThing	DICER1-related tumor predisposition	Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described.	DOVES_relaxed.owl
MONDO:0100232	biolink:NamedThing	psoriatic arthritis, susceptibility to	An inherited susceptibility or predisposition to developing psoriatic arthritis.	DOVES_relaxed.owl
MONDO:0100242	biolink:NamedThing	glioma susceptibility	An inherited susceptibility or predisposition to developing glioma.	DOVES_relaxed.owl
MONDO:0100246	biolink:NamedThing	migraine with or without aura, susceptibility to	An inherited susceptibility or predisposition to developing migraines with or without aura.	DOVES_relaxed.owl
MONDO:0100295	biolink:NamedThing	Alzheimer disease, susceptibility to, mitochondrial		DOVES_relaxed.owl
MONDO:0100440	biolink:NamedThing	Asperger syndrome, susceptibility to	An inherited susceptibility or predisposition to developing Asperger sydrome.	DOVES_relaxed.owl
MONDO:0100460	biolink:NamedThing	tobacco addiction, susceptibility to	An inherited susceptibility or predisposition to developing nicotine dependence.	DOVES_relaxed.owl
MONDO:0100476	biolink:NamedThing	lipodystrophy, partial, acquired, susceptibility to	An inherited susceptibility or predisposition to developing aquired partial lipodystrophy.	DOVES_relaxed.owl
MONDO:0100488	biolink:NamedThing	CDH1-related diffuse gastric and lobular breast cancer	Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women.	DOVES_relaxed.owl
MONDO:0100502	biolink:NamedThing	NTHL1-deficiency tumor predisposition syndrome	Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer.	DOVES_relaxed.owl
MONDO:0700041	biolink:NamedThing	neuroblastoma, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0700077	biolink:NamedThing	vitiligo-associated multiple autoimmune disease susceptibility 6		DOVES_relaxed.owl
MONDO:0800001	biolink:NamedThing	delayed sleep phase syndrome, susceptibility to	An inherited susceptibility or predisposition to developing delayed sleep phase syndrome.	DOVES_relaxed.owl
MONDO:0800174	biolink:NamedThing	encephalitis, acute, infection-induced, susceptibility to	An inherited susceptibility or predisposition to developing encephalitis, acute, infection-induced.	DOVES_relaxed.owl
MONDO:0800188	biolink:NamedThing	malignant hyperthermia, susceptibility to	An inherited susceptibility or predisposition to developing malignant hyperthermia.	DOVES_relaxed.owl
MONDO:0800215	biolink:NamedThing	multicentric Castleman disease, susceptibility to		DOVES_relaxed.owl
MONDO:0800222	biolink:NamedThing	pelvic organ prolapse, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0800224	biolink:NamedThing	amyotrophic lateral sclerosis, susceptibility to, 13		DOVES_relaxed.owl
MONDO:0800250	biolink:NamedThing	Graves disease, susceptibility to, X-linked 2		DOVES_relaxed.owl
MONDO:0800261	biolink:NamedThing	autoimmune thyroid disease, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0800268	biolink:NamedThing	atrioventricular septal defect, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0800271	biolink:NamedThing	epilepsy, juvenile myoclonic, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0800274	biolink:NamedThing	autoimmune disease, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0800279	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0800340	biolink:NamedThing	seasonal affective disorder, susceptibility to		DOVES_relaxed.owl
MONDO:0800409	biolink:NamedThing	ventricular fibrillation during myocardial infarction, susceptibility to		DOVES_relaxed.owl
MONDO:0800410	biolink:NamedThing	UV-induced skin damage, susceptibility to		DOVES_relaxed.owl
MONDO:0800413	biolink:NamedThing	antisocial behavior, susceptibility to		DOVES_relaxed.owl
MONDO:0800414	biolink:NamedThing	aplastic anemia, susceptibility to		DOVES_relaxed.owl
MONDO:0800418	biolink:NamedThing	breast cancer, familial, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0800419	biolink:NamedThing	breast cancer, familial, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0800420	biolink:NamedThing	breast cancer, familial, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0800421	biolink:NamedThing	cardiomyopathy, familial hypertrophic, 4, susceptibility to		DOVES_relaxed.owl
MONDO:0800422	biolink:NamedThing	cirrhosis, noncryptogenic, susceptibility to		DOVES_relaxed.owl
MONDO:0800423	biolink:NamedThing	colorectal cancer, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0800424	biolink:NamedThing	colorectal cancer, susceptibility to, on chromosome 15		DOVES_relaxed.owl
MONDO:0800425	biolink:NamedThing	coronary artery disease, severe, susceptibility to		DOVES_relaxed.owl
MONDO:0800426	biolink:NamedThing	dengue fever, susceptibility to		DOVES_relaxed.owl
MONDO:0800427	biolink:NamedThing	dengue hemorrhagic fever, susceptibility to		DOVES_relaxed.owl
MONDO:0800428	biolink:NamedThing	dengue shock syndrome, susceptibility to		DOVES_relaxed.owl
MONDO:0800429	biolink:NamedThing	dyslexia, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0800430	biolink:NamedThing	dyslexia, susceptibility to, 7		DOVES_relaxed.owl
MONDO:0800431	biolink:NamedThing	efavirenz central nervous system toxicity, susceptibility to		DOVES_relaxed.owl
MONDO:0800432	biolink:NamedThing	obesity, susceptibility to		DOVES_relaxed.owl
MONDO:0800433	biolink:NamedThing	ovarian cancer, familial, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0800434	biolink:NamedThing	ovarian cancer, familial, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0800435	biolink:NamedThing	ovarian cancer, familial, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0000066	biolink:NamedThing	mitochondrial complex deficiency		DOVES_relaxed.owl
MONDO:0004069	biolink:NamedThing	inborn mitochondrial metabolism disorder	Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.	DOVES_relaxed.owl
MONDO:0008759	biolink:NamedThing	oxoglutaricaciduria	Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.	DOVES_relaxed.owl
MONDO:0009637	biolink:NamedThing	inborn mitochondrial myopathy	Myopathy caused by mitochondrial abnormalities.	DOVES_relaxed.owl
MONDO:0010771	biolink:NamedThing	histiocytoid cardiomyopathy	Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.	DOVES_relaxed.owl
MONDO:0011669	biolink:NamedThing	hypotonia-cystinuria syndrome	A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.	DOVES_relaxed.owl
MONDO:0011730	biolink:NamedThing	fumaric aciduria	Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.	DOVES_relaxed.owl
MONDO:0013875	biolink:NamedThing	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.	DOVES_relaxed.owl
MONDO:0013877	biolink:NamedThing	mitochondrial pyruvate carrier deficiency	An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation.	DOVES_relaxed.owl
MONDO:0016387	biolink:NamedThing	mitochondrial oxidative phosphorylation disorder		DOVES_relaxed.owl
MONDO:0016800	biolink:NamedThing	mitochondrial membrane transport disorder		DOVES_relaxed.owl
MONDO:0016803	biolink:NamedThing	unspecified inborn mitochondrial disorder		DOVES_relaxed.owl
MONDO:0018424	biolink:NamedThing	inherited lipoic acid biosynthesis defect	An inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process.	DOVES_relaxed.owl
MONDO:0019169	biolink:NamedThing	pyruvate dehydrogenase deficiency	Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.	DOVES_relaxed.owl
MONDO:0800181	biolink:NamedThing	OPA1-related optic atrophy with or without extraocular features	Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities.	DOVES_relaxed.owl
MONDO:0004951	biolink:NamedThing	susceptibility to HIV infection	The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.	DOVES_relaxed.owl
MONDO:0008905	biolink:NamedThing	predisposition to invasive fungal disease due to CARD9 deficiency		DOVES_relaxed.owl
MONDO:0009500	biolink:NamedThing	kuru, susceptibility to		DOVES_relaxed.owl
MONDO:0009518	biolink:NamedThing	leprosy, susceptibility to, 3	Any leprosy in which the cause of the disease is a mutation in the TLR2 gene.	DOVES_relaxed.owl
MONDO:0010853	biolink:NamedThing	Helicobacter pylori infection, susceptibility to		DOVES_relaxed.owl
MONDO:0011373	biolink:NamedThing	urinary tract infections, recurrent, susceptibility to		DOVES_relaxed.owl
MONDO:0011427	biolink:NamedThing	Ascaris lumbricoides infection, susceptibility to		DOVES_relaxed.owl
MONDO:0011888	biolink:NamedThing	immunodeficiency 67	An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.	DOVES_relaxed.owl
MONDO:0012292	biolink:NamedThing	hepatitis C virus, susceptibility to		DOVES_relaxed.owl
MONDO:0012358	biolink:NamedThing	leprosy, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0012482	biolink:NamedThing	West Nile virus, susceptibility to		DOVES_relaxed.owl
MONDO:0012499	biolink:NamedThing	Buruli ulcer, susceptibility to		DOVES_relaxed.owl
MONDO:0012595	biolink:NamedThing	leprosy, susceptibility to, 4	Any leprosy in which the cause of the disease is a mutation in the LTA gene.	DOVES_relaxed.owl
MONDO:0012682	biolink:NamedThing	immunodeficiency 35	Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene.	DOVES_relaxed.owl
MONDO:0012839	biolink:NamedThing	pyogenic bacterial infections due to MyD88 deficiency	Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.	DOVES_relaxed.owl
MONDO:0013075	biolink:NamedThing	herpes simplex encephalitis, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0013185	biolink:NamedThing	leprosy, susceptibility to, 5	Any leprosy in which the cause of the disease is a mutation in the TLR1 gene.	DOVES_relaxed.owl
MONDO:0013257	biolink:NamedThing	leprosy, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0013427	biolink:NamedThing	immunodeficiency 31B		DOVES_relaxed.owl
MONDO:0013855	biolink:NamedThing	influenza, severe, susceptibility to		DOVES_relaxed.owl
MONDO:0013920	biolink:NamedThing	herpes simplex encephalitis, susceptibility to, 3	A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TRAF3 gene.	DOVES_relaxed.owl
MONDO:0013921	biolink:NamedThing	herpes simplex encephalitis, susceptibility to, 4	A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TICAM1 gene.	DOVES_relaxed.owl
MONDO:0014680	biolink:NamedThing	herpes simplex encephalitis, susceptibility to, 7	A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the IRF3 gene.	DOVES_relaxed.owl
MONDO:0017901	biolink:NamedThing	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).	DOVES_relaxed.owl
MONDO:0017902	biolink:NamedThing	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).	DOVES_relaxed.owl
MONDO:0019146	biolink:NamedThing	inherited susceptibility to mycobacterial diseases	Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.	DOVES_relaxed.owl
MONDO:0021012	biolink:NamedThing	susceptibility to visceral leishmaniasis, 1		DOVES_relaxed.owl
MONDO:0024563	biolink:NamedThing	herpes simplex encephalitis, susceptibility to, 1	A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the UNC93B1 gene.	DOVES_relaxed.owl
MONDO:0000075	biolink:NamedThing	neuronopathy, distal hereditary motor		DOVES_relaxed.owl
MONDO:0020128	biolink:NamedThing	motor neuron disorder	A disease involving the motor neuron.	DOVES_relaxed.owl
MONDO:0001516	biolink:NamedThing	spinal muscular atrophy	Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0004976	biolink:NamedThing	amyotrophic lateral sclerosis	Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.	DOVES_relaxed.owl
MONDO:0008407	biolink:NamedThing	neurogenic scapuloperoneal syndrome, Kaeser type		DOVES_relaxed.owl
MONDO:0015307	biolink:NamedThing	Madras motor neuron disease	Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.	DOVES_relaxed.owl
MONDO:0020129	biolink:NamedThing	acquired motor neuron disease	An instance of motor neuron disease that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0024257	biolink:NamedThing	hereditary motor neuron disease	An instance of motor neuron disease that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0000078	biolink:NamedThing	acrocephalopolysyndactyly	A common presentation of craniosynostosis and polysyndactyly.	DOVES_relaxed.owl
MONDO:0019796	biolink:NamedThing	acrocephalosyndactyly	Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.	DOVES_relaxed.owl
MONDO:0007041	biolink:NamedThing	apert syndrome	Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.	DOVES_relaxed.owl
MONDO:0007042	biolink:NamedThing	Saethre-Chotzen syndrome	Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.	DOVES_relaxed.owl
MONDO:0007400	biolink:NamedThing	Jackson-Weiss syndrome	Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.	DOVES_relaxed.owl
MONDO:0000079	biolink:NamedThing	nephrolithiasis/osteoporosis, hypophosphatemic		DOVES_relaxed.owl
MONDO:0005298	biolink:NamedThing	osteoporosis	A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss).	DOVES_relaxed.owl
MONDO:0008159	biolink:NamedThing	postmenopausal osteoporosis	Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.	DOVES_relaxed.owl
MONDO:0018315	biolink:NamedThing	X-linked osteoporosis with fractures		DOVES_relaxed.owl
MONDO:0019409	biolink:NamedThing	idiopathic juvenile osteoporosis	Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization childhood or adolescence that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. Onset usually occurs in the prepubertal period, between 8 and 12 years of age.	DOVES_relaxed.owl
MONDO:0024650	biolink:NamedThing	drug-induced osteoporosis		DOVES_relaxed.owl
MONDO:0100194	biolink:NamedThing	pregnancy associated osteoporosis	A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation.	DOVES_relaxed.owl
MONDO:0700047	biolink:NamedThing	premenopausal osteoporosis	Osteoporosis occuring in premenopausal women with existing fragility fractures, diseases or treatments known to cause bone loss or fractures.	DOVES_relaxed.owl
MONDO:0000082	biolink:NamedThing	pelvic organ prolapse	Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence.	DOVES_relaxed.owl
MONDO:0005039	biolink:NamedThing	reproductive system disorder	A disease involving the reproductive system.	DOVES_relaxed.owl
MONDO:0002134	biolink:NamedThing	physiological sexual disorder	Physiological disturbances in normal sexual performance in either the male or the female.	DOVES_relaxed.owl
MONDO:0002259	biolink:NamedThing	gonadal disorder	A non-neoplastic or neoplastic disorder that affects the testis or the ovary.	DOVES_relaxed.owl
MONDO:0002263	biolink:NamedThing	female reproductive system disorder	A disease involving the female reproductive system.	DOVES_relaxed.owl
MONDO:0003150	biolink:NamedThing	male reproductive system disorder	A disease involving the male reproductive system.	DOVES_relaxed.owl
MONDO:0005047	biolink:NamedThing	infertility disorder	Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.	DOVES_relaxed.owl
MONDO:0006054	biolink:NamedThing	reproductive system neoplasm	A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system.	DOVES_relaxed.owl
MONDO:0006736	biolink:NamedThing	dysplasia of cervix	Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane.	DOVES_relaxed.owl
MONDO:0006758	biolink:NamedThing	female genital tuberculosis	Mycobacterium infections of the female reproductive tract (genitalia, female).	DOVES_relaxed.owl
MONDO:0006774	biolink:NamedThing	habitual spontaneous abortion	Three or more consecutive spontaneous abortions.	DOVES_relaxed.owl
MONDO:0007690	biolink:NamedThing	aromatase excess syndrome	Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.	DOVES_relaxed.owl
MONDO:0021681	biolink:NamedThing	sexually transmitted disease	A Disease due to or propagated by sexual contact.	DOVES_relaxed.owl
MONDO:0000087	biolink:NamedThing	polymicrogyria	A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.	DOVES_relaxed.owl
MONDO:0002320	biolink:NamedThing	congenital nervous system disorder	An abnormality of the nervous system that is present at birth or detected in the neonatal period.	DOVES_relaxed.owl
MONDO:0000182	biolink:NamedThing	congenital myasthenic syndrome with tubular aggregates	A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.	DOVES_relaxed.owl
MONDO:0000209	biolink:NamedThing	prenatal-onset spinal muscular atrophy with congenital bone fractures		DOVES_relaxed.owl
MONDO:0000820	biolink:NamedThing	cerebral cavernous malformation	A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.	DOVES_relaxed.owl
MONDO:0001147	biolink:NamedThing	meningocele	A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium.	DOVES_relaxed.owl
MONDO:0004527	biolink:NamedThing	congenital granular cell tumor	An instance of granular cell tumor that is present from birth.	DOVES_relaxed.owl
MONDO:0005715	biolink:NamedThing	congenital toxoplasmosis	Toxoplasma infection that is present from birth.	DOVES_relaxed.owl
MONDO:0007363	biolink:NamedThing	congenital contractural arachnodactyly	Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.	DOVES_relaxed.owl
MONDO:0007384	biolink:NamedThing	congenital trigeminal anesthesia	Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).	DOVES_relaxed.owl
MONDO:0007688	biolink:NamedThing	Myhre syndrome	Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.	DOVES_relaxed.owl
MONDO:0007839	biolink:NamedThing	Aase-Smith syndrome	Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	DOVES_relaxed.owl
MONDO:0007846	biolink:NamedThing	KBG syndrome	KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.	DOVES_relaxed.owl
MONDO:0007988	biolink:NamedThing	autosomal dominant primary microcephaly	Autosomal dominant form of microcephaly (disease).	DOVES_relaxed.owl
MONDO:0008006	biolink:NamedThing	Mobius syndrome	Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.	DOVES_relaxed.owl
MONDO:0008050	biolink:NamedThing	MYH7-related skeletal myopathy	Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.	DOVES_relaxed.owl
MONDO:0008099	biolink:NamedThing	congenital stationary night blindness autosomal dominant 2	Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.	DOVES_relaxed.owl
MONDO:0008300	biolink:NamedThing	Prader-Willi syndrome	Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.	DOVES_relaxed.owl
MONDO:0008434	biolink:NamedThing	Smith-Magenis syndrome	Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.	DOVES_relaxed.owl
MONDO:0008449	biolink:NamedThing	spina bifida	A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae.	DOVES_relaxed.owl
MONDO:0008675	biolink:NamedThing	Freeman-Sheldon syndrome	Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.	DOVES_relaxed.owl
MONDO:0008678	biolink:NamedThing	Williams syndrome	Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)	DOVES_relaxed.owl
MONDO:0008684	biolink:NamedThing	Wolf-Hirschhorn syndrome	Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.	DOVES_relaxed.owl
MONDO:0008871	biolink:NamedThing	microcephalic osteodysplastic primordial dwarfism type I	A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits.	DOVES_relaxed.owl
MONDO:0008872	biolink:NamedThing	microcephalic osteodysplastic primordial dwarfism type II	A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.	DOVES_relaxed.owl
MONDO:0008873	biolink:NamedThing	microcephalic osteodysplastic primordial dwarfism, type 3		DOVES_relaxed.owl
MONDO:0008939	biolink:NamedThing	isolated cerebellar hypoplasia/agenesis	Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.	DOVES_relaxed.owl
MONDO:0008963	biolink:NamedThing	Chediak-Higashi syndrome	ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.	DOVES_relaxed.owl
MONDO:0008967	biolink:NamedThing	congenital bile acid synthesis defect 4	An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.	DOVES_relaxed.owl
MONDO:0008999	biolink:NamedThing	Cohen syndrome	Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.	DOVES_relaxed.owl
MONDO:0009012	biolink:NamedThing	multiple pterygium-malignant hyperthermia syndrome	Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.	DOVES_relaxed.owl
MONDO:0009069	biolink:NamedThing	congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.	DOVES_relaxed.owl
MONDO:0009074	biolink:NamedThing	facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome	Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0009106	biolink:NamedThing	diastematomyelia	A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.	DOVES_relaxed.owl
MONDO:0009155	biolink:NamedThing	EEM syndrome	EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).	DOVES_relaxed.owl
MONDO:0009188	biolink:NamedThing	epilepsy-telangiectasia syndrome	Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.	DOVES_relaxed.owl
MONDO:0009279	biolink:NamedThing	triple-A syndrome	Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.	DOVES_relaxed.owl
MONDO:0009341	biolink:NamedThing	Mowat-Wilson syndrome	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.	DOVES_relaxed.owl
MONDO:0009459	biolink:NamedThing	channelopathy-associated congenital insensitivity to pain, autosomal recessive	A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)	DOVES_relaxed.owl
MONDO:0009479	biolink:NamedThing	Johanson-Blizzard syndrome	A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.	DOVES_relaxed.owl
MONDO:0009514	biolink:NamedThing	Laurence-Moon syndrome	A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.	DOVES_relaxed.owl
MONDO:0009584	biolink:NamedThing	intellectual disability, Buenos-Aires type	Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.	DOVES_relaxed.owl
MONDO:0009687	biolink:NamedThing	myasthenia, congenital, refractory to acetylcholinesterase inhibitors		DOVES_relaxed.owl
MONDO:0009689	biolink:NamedThing	congenital myasthenic syndrome 6	Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0009710	biolink:NamedThing	Thomsen and Becker disease	A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).	DOVES_relaxed.owl
MONDO:0009717	biolink:NamedThing	Schwartz-Jampel syndrome	A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).	DOVES_relaxed.owl
MONDO:0009722	biolink:NamedThing	Bailey-Bloch congenital myopathy	Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.	DOVES_relaxed.owl
MONDO:0009758	biolink:NamedThing	congenital stationary night blindness 1B	Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene.	DOVES_relaxed.owl
MONDO:0009952	biolink:NamedThing	radioulnar synostosis-developmental delay-hypotonia syndrome	Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).	DOVES_relaxed.owl
MONDO:0010010	biolink:NamedThing	Schinzel-Giedion syndrome	Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.	DOVES_relaxed.owl
MONDO:0010011	biolink:NamedThing	schizencephaly	Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.	DOVES_relaxed.owl
MONDO:0010203	biolink:NamedThing	intellectual disability, Wolff type	Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.	DOVES_relaxed.owl
MONDO:0010237	biolink:NamedThing	X-linked intellectual disability-plagiocephaly syndrome	X-linked intellectual disability-plagiocephaly syndrome is characterised by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism.	DOVES_relaxed.owl
MONDO:0010264	biolink:NamedThing	X-linked adrenal hypoplasia congenita	A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.	DOVES_relaxed.owl
MONDO:0010270	biolink:NamedThing	syndromic X-linked intellectual disability 7	Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers.	DOVES_relaxed.owl
MONDO:0010277	biolink:NamedThing	syndromic X-linked intellectual disability Shashi type	X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.	DOVES_relaxed.owl
MONDO:0010283	biolink:NamedThing	syndromic X-linked intellectual disability Lubs type	Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.	DOVES_relaxed.owl
MONDO:0010285	biolink:NamedThing	syndromic X-linked intellectual disability Abidi type	X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.	DOVES_relaxed.owl
MONDO:0010286	biolink:NamedThing	syndromic X-linked intellectual disability Siderius type		DOVES_relaxed.owl
MONDO:0010305	biolink:NamedThing	creatine transporter deficiency	X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.	DOVES_relaxed.owl
MONDO:0010306	biolink:NamedThing	X-linked intellectual disability, Cabezas type	X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.	DOVES_relaxed.owl
MONDO:0010332	biolink:NamedThing	X-linked intellectual disability-cubitus valgus-dysmorphism syndrome	An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.	DOVES_relaxed.owl
MONDO:0010355	biolink:NamedThing	syndromic X-linked intellectual disability Claes-Jensen type		DOVES_relaxed.owl
MONDO:0010428	biolink:NamedThing	chromosome Xp11.23-p11.22 duplication syndrome	A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.	DOVES_relaxed.owl
MONDO:0010448	biolink:NamedThing	moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.	DOVES_relaxed.owl
MONDO:0010460	biolink:NamedThing	syndromic X-linked intellectual disability 17	Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.	DOVES_relaxed.owl
MONDO:0010477	biolink:NamedThing	blepharophimosis - intellectual disability syndrome, MKB type	The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.	DOVES_relaxed.owl
MONDO:0010496	biolink:NamedThing	X-linked intellectual disability-short stature-overweight syndrome	X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.	DOVES_relaxed.owl
MONDO:0010501	biolink:NamedThing	syndromic X-linked intellectual disability 34	Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.	DOVES_relaxed.owl
MONDO:0010532	biolink:NamedThing	infantile-onset X-linked spinal muscular atrophy	A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.	DOVES_relaxed.owl
MONDO:0010574	biolink:NamedThing	syndromic X-linked intellectual disability 5	X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.	DOVES_relaxed.owl
MONDO:0010610	biolink:NamedThing	holoprosencephaly-hypokinesia-congenital contractures syndrome	An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested.	DOVES_relaxed.owl
MONDO:0010655	biolink:NamedThing	X-linked intellectual disability with marfanoid habitus	The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.	DOVES_relaxed.owl
MONDO:0010758	biolink:NamedThing	Wieacker-Wolff syndrome	A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.	DOVES_relaxed.owl
MONDO:0010787	biolink:NamedThing	Kearns-Sayre syndrome	Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.	DOVES_relaxed.owl
MONDO:0010790	biolink:NamedThing	MERRF syndrome	A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy.	DOVES_relaxed.owl
MONDO:0010858	biolink:NamedThing	macrocephaly-spastic paraplegia-dysmorphism syndrome	Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0011053	biolink:NamedThing	intellectual disability-sparse hair-brachydactyly syndrome	Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.	DOVES_relaxed.owl
MONDO:0011076	biolink:NamedThing	myofibrillar myopathy 1	A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.	DOVES_relaxed.owl
MONDO:0011181	biolink:NamedThing	fibrosis of extraocular muscles, congenital, 2	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene.	DOVES_relaxed.owl
MONDO:0011402	biolink:NamedThing	congenital cataracts-facial dysmorphism-neuropathy syndrome	Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.	DOVES_relaxed.owl
MONDO:0011407	biolink:NamedThing	facial paresis, hereditary congenital, 2		DOVES_relaxed.owl
MONDO:0011510	biolink:NamedThing	Bohring-Opitz syndrome	Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.	DOVES_relaxed.owl
MONDO:0011539	biolink:NamedThing	nemaline myopathy 5	Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.	DOVES_relaxed.owl
MONDO:0011603	biolink:NamedThing	GNE myopathy	Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.	DOVES_relaxed.owl
MONDO:0011676	biolink:NamedThing	PHACE syndrome	PHACE is an acronym used to describe a syndrome characterised by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.	DOVES_relaxed.owl
MONDO:0011772	biolink:NamedThing	B4GALT1-congenital disorder of glycosylation	B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.	DOVES_relaxed.owl
MONDO:0011823	biolink:NamedThing	developmental malformations-deafness-dystonia syndrome	Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.	DOVES_relaxed.owl
MONDO:0011835	biolink:NamedThing	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	A syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.	DOVES_relaxed.owl
MONDO:0012099	biolink:NamedThing	AICA-ribosiduria	AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.	DOVES_relaxed.owl
MONDO:0012215	biolink:NamedThing	myofibrillar myopathy 3	A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.	DOVES_relaxed.owl
MONDO:0012262	biolink:NamedThing	fibrosis of extraocular muscles, congenital, 3c		DOVES_relaxed.owl
MONDO:0012277	biolink:NamedThing	myofibrillar myopathy 4	Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.	DOVES_relaxed.owl
MONDO:0012289	biolink:NamedThing	myofibrillar myopathy 5	Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.	DOVES_relaxed.owl
MONDO:0012490	biolink:NamedThing	cone-rod synaptic disorder, congenital nonprogressive		DOVES_relaxed.owl
MONDO:0012497	biolink:NamedThing	congenital stationary night blindness autosomal dominant 3	A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.	DOVES_relaxed.owl
MONDO:0012498	biolink:NamedThing	congenital stationary night blindness autosomal dominant 1	Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene.	DOVES_relaxed.owl
MONDO:0012589	biolink:NamedThing	Pitt-Hopkins syndrome	Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.	DOVES_relaxed.owl
MONDO:0012593	biolink:NamedThing	brain-lung-thyroid syndrome	Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).	DOVES_relaxed.owl
MONDO:0012721	biolink:NamedThing	progressive myoclonic epilepsy type 3	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.	DOVES_relaxed.owl
MONDO:0012774	biolink:NamedThing	chromosome 15q13.3 microdeletion syndrome	15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.	DOVES_relaxed.owl
MONDO:0013270	biolink:NamedThing	Rett syndrome, congenital variant		DOVES_relaxed.owl
MONDO:0013358	biolink:NamedThing	Seckel syndrome 4	Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene.	DOVES_relaxed.owl
MONDO:0013450	biolink:NamedThing	congenital stationary night blindness 1D	Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene.	DOVES_relaxed.owl
MONDO:0013578	biolink:NamedThing	DYRK1A-related intellectual disability syndrome	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.	DOVES_relaxed.owl
MONDO:0013880	biolink:NamedThing	facial paresis, hereditary congenital, 3	Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.	DOVES_relaxed.owl
MONDO:0014006	biolink:NamedThing	Schuurs-Hoeijmakers syndrome	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.	DOVES_relaxed.owl
MONDO:0014034	biolink:NamedThing	severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.	DOVES_relaxed.owl
MONDO:0014035	biolink:NamedThing	severe intellectual disability-progressive spastic diplegia syndrome	Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0014043	biolink:NamedThing	microcephalic primordial dwarfism due to ZNF335 deficiency	Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.	DOVES_relaxed.owl
MONDO:0014176	biolink:NamedThing	hypotonia, infantile, with psychomotor retardation and characteristic facies	A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).	DOVES_relaxed.owl
MONDO:0014213	biolink:NamedThing	intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome		DOVES_relaxed.owl
MONDO:0014361	biolink:NamedThing	autism spectrum disorder due to AUTS2 deficiency	Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.	DOVES_relaxed.owl
MONDO:0014379	biolink:NamedThing	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.	DOVES_relaxed.owl
MONDO:0014439	biolink:NamedThing	Bardet-Biedl syndrome 11	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene.	DOVES_relaxed.owl
MONDO:0014473	biolink:NamedThing	microcephaly 13, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene.	DOVES_relaxed.owl
MONDO:0014497	biolink:NamedThing	polyendocrine-polyneuropathy syndrome		DOVES_relaxed.owl
MONDO:0014529	biolink:NamedThing	cerebellar-facial-dental syndrome		DOVES_relaxed.owl
MONDO:0014538	biolink:NamedThing	fibrosis of extraocular muscles, congenital, 5	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene.	DOVES_relaxed.owl
MONDO:0014552	biolink:NamedThing	lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.	DOVES_relaxed.owl
MONDO:0014558	biolink:NamedThing	autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.	DOVES_relaxed.owl
MONDO:0014590	biolink:NamedThing	congenital myasthenic syndrome 18	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.	DOVES_relaxed.owl
MONDO:0014601	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 20	Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.	DOVES_relaxed.owl
MONDO:0014602	biolink:NamedThing	intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1.	DOVES_relaxed.owl
MONDO:0014606	biolink:NamedThing	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).	DOVES_relaxed.owl
MONDO:0014614	biolink:NamedThing	congenital stationary night blindness 1G	A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.	DOVES_relaxed.owl
MONDO:0014662	biolink:NamedThing	congenital insensitivity to pain-hypohidrosis syndrome	A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.	DOVES_relaxed.owl
MONDO:0014716	biolink:NamedThing	macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.	DOVES_relaxed.owl
MONDO:0014746	biolink:NamedThing	SLC39A8-CDG		DOVES_relaxed.owl
MONDO:0014747	biolink:NamedThing	familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome		DOVES_relaxed.owl
MONDO:0014764	biolink:NamedThing	spastic paraplegia-severe developmental delay-epilepsy syndrome	Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.	DOVES_relaxed.owl
MONDO:0014773	biolink:NamedThing	cardiac anomalies - developmental delay - facial dysmorphism syndrome		DOVES_relaxed.owl
MONDO:0014787	biolink:NamedThing	severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		DOVES_relaxed.owl
MONDO:0014832	biolink:NamedThing	intellectual disability, autosomal recessive 53		DOVES_relaxed.owl
MONDO:0014848	biolink:NamedThing	TELO2-related intellectual disability-neurodevelopmental disorder		DOVES_relaxed.owl
MONDO:0014892	biolink:NamedThing	micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0014944	biolink:NamedThing	short stature-brachydactyly-obesity-global developmental delay syndrome		DOVES_relaxed.owl
MONDO:0014977	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2R1	An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients.	DOVES_relaxed.owl
MONDO:0015248	biolink:NamedThing	ataxia-photosensitivity-short stature syndrome	Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.	DOVES_relaxed.owl
MONDO:0015252	biolink:NamedThing	severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome		DOVES_relaxed.owl
MONDO:0015316	biolink:NamedThing	congenital laryngeal palsy	Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.	DOVES_relaxed.owl
MONDO:0015519	biolink:NamedThing	congenital or early infantile CACH syndrome		DOVES_relaxed.owl
MONDO:0015735	biolink:NamedThing	severe congenital nemaline myopathy	Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.	DOVES_relaxed.owl
MONDO:0015736	biolink:NamedThing	intermediate nemaline myopathy	Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.	DOVES_relaxed.owl
MONDO:0015737	biolink:NamedThing	typical nemaline myopathy	Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.	DOVES_relaxed.owl
MONDO:0015738	biolink:NamedThing	childhood-onset nemaline myopathy	Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.	DOVES_relaxed.owl
MONDO:0015739	biolink:NamedThing	adult-onset nemaline myopathy	Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.	DOVES_relaxed.owl
MONDO:0016051	biolink:NamedThing	cleft lip-retinopathy syndrome	Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy.	DOVES_relaxed.owl
MONDO:0016155	biolink:NamedThing	qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan		DOVES_relaxed.owl
MONDO:0016319	biolink:NamedThing	congenital insensitivity to pain with hyperhidrosis		DOVES_relaxed.owl
MONDO:0016377	biolink:NamedThing	Pitt-Hopkins-like syndrome	Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.	DOVES_relaxed.owl
MONDO:0016456	biolink:NamedThing	5q14.3 microdeletion syndrome	The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.	DOVES_relaxed.owl
MONDO:0016571	biolink:NamedThing	macrocephaly-short stature-paraplegia syndrome	Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.	DOVES_relaxed.owl
MONDO:0017078	biolink:NamedThing	cephalocele	A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.	DOVES_relaxed.owl
MONDO:0017575	biolink:NamedThing	mitochondrial neurogastrointestinal encephalomyopathy	A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.	DOVES_relaxed.owl
MONDO:0017614	biolink:NamedThing	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.	DOVES_relaxed.owl
MONDO:0017792	biolink:NamedThing	7p22.1 microduplication syndrome	7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.	DOVES_relaxed.owl
MONDO:0017929	biolink:NamedThing	congenital achiasma	Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.	DOVES_relaxed.owl
MONDO:0018144	biolink:NamedThing	congenital myasthenic syndromes with glycosylation defect		DOVES_relaxed.owl
MONDO:0018145	biolink:NamedThing	congenital retinal arteriovenous communication		DOVES_relaxed.owl
MONDO:0018222	biolink:NamedThing	X-linked intellectual disability due to GRIA3 anomalies		DOVES_relaxed.owl
MONDO:0018341	biolink:NamedThing	3q27.3 microdeletion syndrome	A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.	DOVES_relaxed.owl
MONDO:0018343	biolink:NamedThing	periodic paralysis with later-onset distal motor neuropathy		DOVES_relaxed.owl
MONDO:0018354	biolink:NamedThing	Prader-Willi-like syndrome	Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities.	DOVES_relaxed.owl
MONDO:0018428	biolink:NamedThing	9q31.1q31.3 microdeletion syndrome		DOVES_relaxed.owl
MONDO:0018580	biolink:NamedThing	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome		DOVES_relaxed.owl
MONDO:0018599	biolink:NamedThing	congenital oculomotor nerve palsy		DOVES_relaxed.owl
MONDO:0018600	biolink:NamedThing	congenital abducens nerve palsy		DOVES_relaxed.owl
MONDO:0018681	biolink:NamedThing	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome		DOVES_relaxed.owl
MONDO:0018682	biolink:NamedThing	congenital insensitivity to pain with severe intellectual disability		DOVES_relaxed.owl
MONDO:0018724	biolink:NamedThing	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		DOVES_relaxed.owl
MONDO:0018773	biolink:NamedThing	autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome		DOVES_relaxed.owl
MONDO:0018822	biolink:NamedThing	global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).	DOVES_relaxed.owl
MONDO:0018823	biolink:NamedThing	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome		DOVES_relaxed.owl
MONDO:0018889	biolink:NamedThing	hyaline body myopathy		DOVES_relaxed.owl
MONDO:0018923	biolink:NamedThing	22q11.2 deletion syndrome	22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.	DOVES_relaxed.owl
MONDO:0018948	biolink:NamedThing	multiminicore myopathy	A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.	DOVES_relaxed.owl
MONDO:0018969	biolink:NamedThing	craniorachischisis	Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.	DOVES_relaxed.owl
MONDO:0018998	biolink:NamedThing	Leber congenital amaurosis	Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.	DOVES_relaxed.owl
MONDO:0019188	biolink:NamedThing	Rubinstein-Taybi syndrome	A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.	DOVES_relaxed.owl
MONDO:0019349	biolink:NamedThing	Sotos syndrome	Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.	DOVES_relaxed.owl
MONDO:0019416	biolink:NamedThing	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.	DOVES_relaxed.owl
MONDO:0019418	biolink:NamedThing	X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome	X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.	DOVES_relaxed.owl
MONDO:0019420	biolink:NamedThing	X-linked intellectual disability, Pai type	X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome.	DOVES_relaxed.owl
MONDO:0019422	biolink:NamedThing	X-linked intellectual disability, Stevenson type	An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.	DOVES_relaxed.owl
MONDO:0019423	biolink:NamedThing	X-linked intellectual disability, Stoll type	X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.	DOVES_relaxed.owl
MONDO:0019896	biolink:NamedThing	Kleefstra syndrome due to 9q34 microdeletion		DOVES_relaxed.owl
MONDO:0019950	biolink:NamedThing	congenital muscular dystrophy	A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.	DOVES_relaxed.owl
MONDO:0020247	biolink:NamedThing	congenital vitreoretinal dysplasia		DOVES_relaxed.owl
MONDO:0020343	biolink:NamedThing	alpha-crystallinopathy		DOVES_relaxed.owl
MONDO:0020344	biolink:NamedThing	postsynaptic congenital myasthenic syndrome		DOVES_relaxed.owl
MONDO:0020485	biolink:NamedThing	King-Denborough syndrome	A rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.	DOVES_relaxed.owl
MONDO:0020491	biolink:NamedThing	subcortical band heterotopia	A developmental brain abnormality characterized by atypical migration of neurons during cortical development.	DOVES_relaxed.owl
MONDO:0021083	biolink:NamedThing	congenital fibrosis of extraocular muscles type 1	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.	DOVES_relaxed.owl
MONDO:0021838	biolink:NamedThing	Al Gazali Khidr Prem Chandran syndrome	A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder.	DOVES_relaxed.owl
MONDO:0022998	biolink:NamedThing	distal arthrogryposis Moore weaver type		DOVES_relaxed.owl
MONDO:0023595	biolink:NamedThing	congenital myotonic dystrophy	Myotonic dystrophy that is present at birth.	DOVES_relaxed.owl
MONDO:0030037	biolink:NamedThing	neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures		DOVES_relaxed.owl
MONDO:0030341	biolink:NamedThing	myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive		DOVES_relaxed.owl
MONDO:0030912	biolink:NamedThing	intellectual disability, autosomal dominant 47		DOVES_relaxed.owl
MONDO:0030913	biolink:NamedThing	intellectual disability, autosomal dominant 48		DOVES_relaxed.owl
MONDO:0031007	biolink:NamedThing	spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis		DOVES_relaxed.owl
MONDO:0032596	biolink:NamedThing	myasthenic syndrome, congenital, 23, presynaptic		DOVES_relaxed.owl
MONDO:0032597	biolink:NamedThing	myasthenic syndrome, congenital, 24, presynaptic		DOVES_relaxed.owl
MONDO:0032675	biolink:NamedThing	myasthenic syndrome, congenital, 25, presynaptic		DOVES_relaxed.owl
MONDO:0032811	biolink:NamedThing	night blindness, congenital stationary, type1i		DOVES_relaxed.owl
MONDO:0033352	biolink:NamedThing	neuropathy, congenital hypomelinating		DOVES_relaxed.owl
MONDO:0034041	biolink:NamedThing	congenital axonal neuropathy with encephalopathy	A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.	DOVES_relaxed.owl
MONDO:0035133	biolink:NamedThing	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		DOVES_relaxed.owl
MONDO:0035402	biolink:NamedThing	isolated exencephaly		DOVES_relaxed.owl
MONDO:0040500	biolink:NamedThing	glycosylphosphatidylinositol biosynthesis defect 16		DOVES_relaxed.owl
MONDO:0044299	biolink:NamedThing	myasthenic syndrome, congenital, 22		DOVES_relaxed.owl
MONDO:0044319	biolink:NamedThing	intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}).	DOVES_relaxed.owl
MONDO:0044634	biolink:NamedThing	retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome		DOVES_relaxed.owl
MONDO:0044641	biolink:NamedThing	9q33.3q34.11 microdeletion syndrome		DOVES_relaxed.owl
MONDO:0044643	biolink:NamedThing	congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome		DOVES_relaxed.owl
MONDO:0044646	biolink:NamedThing	early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		DOVES_relaxed.owl
MONDO:0044699	biolink:NamedThing	SIN3A-related intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0044701	biolink:NamedThing	childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder		DOVES_relaxed.owl
MONDO:0044714	biolink:NamedThing	mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome		DOVES_relaxed.owl
MONDO:0044749	biolink:NamedThing	X-linked congenital stationary night blindness	X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.	DOVES_relaxed.owl
MONDO:0060502	biolink:NamedThing	neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		DOVES_relaxed.owl
MONDO:0060627	biolink:NamedThing	glycosylphosphatidylinositol biosynthesis defect 15		DOVES_relaxed.owl
MONDO:0100062	biolink:NamedThing	developmental and epileptic encephalopathy	A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.	DOVES_relaxed.owl
MONDO:0100084	biolink:NamedThing	alpha-actinopathy	A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance.	DOVES_relaxed.owl
MONDO:0100108	biolink:NamedThing	TPM3-related myopathy	TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation.	DOVES_relaxed.owl
MONDO:0100138	biolink:NamedThing	X-linked recessive mitochondrial myopathy	A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features.	DOVES_relaxed.owl
MONDO:0100175	biolink:NamedThing	TTN-related myopathy	A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes.	DOVES_relaxed.owl
MONDO:0100196	biolink:NamedThing	TPM2-related myopathy	A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree.	DOVES_relaxed.owl
MONDO:0800026	biolink:NamedThing	central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.	DOVES_relaxed.owl
MONDO:0000088	biolink:NamedThing	precocious puberty	Unusually early sexual maturity.	DOVES_relaxed.owl
MONDO:0002145	biolink:NamedThing	disorder of sexual differentiation	A congenital disorder characterized by abnormalities in the development of the sexual characteristics.	DOVES_relaxed.owl
MONDO:0002146	biolink:NamedThing	hypogonadism	A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation.	DOVES_relaxed.owl
MONDO:0002329	biolink:NamedThing	testicular disorder	A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia.	DOVES_relaxed.owl
MONDO:0005558	biolink:NamedThing	ovarian disorder	A disease involving the ovary.	DOVES_relaxed.owl
MONDO:0010768	biolink:NamedThing	gonadoblastoma	A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype.	DOVES_relaxed.owl
MONDO:0021147	biolink:NamedThing	disorder of development or morphogenesis	Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.	DOVES_relaxed.owl
MONDO:0000902	biolink:NamedThing	agenesis of the corpus callosum with peripheral neuropathy	Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.	DOVES_relaxed.owl
MONDO:0002562	biolink:NamedThing	demyelinating disease	A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others.	DOVES_relaxed.owl
MONDO:0005497	biolink:NamedThing	bone development disease	A disease involving the bone development.	DOVES_relaxed.owl
MONDO:0007612	biolink:NamedThing	gingival fibromatosis-progressive deafness syndrome	Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.	DOVES_relaxed.owl
MONDO:0007618	biolink:NamedThing	Eng-Strom syndrome	Eng-Strom syndrome is characterised by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0008118	biolink:NamedThing	odontomatosis-aortae esophagus stenosis syndrome	Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.	DOVES_relaxed.owl
MONDO:0008161	biolink:NamedThing	otodental syndrome	Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.	DOVES_relaxed.owl
MONDO:0008396	biolink:NamedThing	oculodental syndrome, Rutherfurd type	Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.	DOVES_relaxed.owl
MONDO:0008486	biolink:NamedThing	steatocystoma multiplex-natal teeth syndrome	The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.	DOVES_relaxed.owl
MONDO:0008771	biolink:NamedThing	amelogenesis imperfecta type 1G	An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.	DOVES_relaxed.owl
MONDO:0008876	biolink:NamedThing	Bloom syndrome	Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.	DOVES_relaxed.owl
MONDO:0008993	biolink:NamedThing	cleft palate-stapes fixation-oligodontia syndrome	Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.	DOVES_relaxed.owl
MONDO:0009007	biolink:NamedThing	Jalili syndrome	Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).	DOVES_relaxed.owl
MONDO:0009089	biolink:NamedThing	deafness-oligodontia syndrome	Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0009168	biolink:NamedThing	Fowler syndrome		DOVES_relaxed.owl
MONDO:0009467	biolink:NamedThing	natal teeth-intestinal pseudoobstruction-patent ductus syndrome		DOVES_relaxed.owl
MONDO:0009664	biolink:NamedThing	mulibrey nanism	A prenatal onset growth disorder with multiorgan manifestations.	DOVES_relaxed.owl
MONDO:0009767	biolink:NamedThing	oculocerebral hypopigmentation syndrome, Cross type	Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.	DOVES_relaxed.owl
MONDO:0009895	biolink:NamedThing	postaxial polydactyly-dental and vertebral anomalies syndrome	Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.	DOVES_relaxed.owl
MONDO:0010104	biolink:NamedThing	non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome	Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.	DOVES_relaxed.owl
MONDO:0010333	biolink:NamedThing	corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.	DOVES_relaxed.owl
MONDO:0010441	biolink:NamedThing	CK syndrome		DOVES_relaxed.owl
MONDO:0010545	biolink:NamedThing	Nance-Horan syndrome	A syndrome characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0010568	biolink:NamedThing	Aicardi syndrome	Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.	DOVES_relaxed.owl
MONDO:0010908	biolink:NamedThing	loose anagen syndrome	Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.	DOVES_relaxed.owl
MONDO:0011411	biolink:NamedThing	Chudley-McCullough syndrome		DOVES_relaxed.owl
MONDO:0011537	biolink:NamedThing	macrocephaly-autism syndrome	An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23.	DOVES_relaxed.owl
MONDO:0011686	biolink:NamedThing	DNA ligase IV deficiency	LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).	DOVES_relaxed.owl
MONDO:0011790	biolink:NamedThing	Amish lethal microcephaly	Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.	DOVES_relaxed.owl
MONDO:0011995	biolink:NamedThing	cataract - congenital heart disease - neural tube defect syndrome	Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.	DOVES_relaxed.owl
MONDO:0013394	biolink:NamedThing	porencephaly-microcephaly-bilateral congenital cataract syndrome		DOVES_relaxed.owl
MONDO:0014714	biolink:NamedThing	progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.	DOVES_relaxed.owl
MONDO:0015182	biolink:NamedThing	congenital enteropathy involving intestinal mucosa development		DOVES_relaxed.owl
MONDO:0015256	biolink:NamedThing	blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome		DOVES_relaxed.owl
MONDO:0015323	biolink:NamedThing	teratogenic Pierre Robin syndrome		DOVES_relaxed.owl
MONDO:0015335	biolink:NamedThing	Mendelian syndromes with cleft lip/palate		DOVES_relaxed.owl
MONDO:0015409	biolink:NamedThing	isolated congenital syngnathia	Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis.	DOVES_relaxed.owl
MONDO:0015701	biolink:NamedThing	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.	DOVES_relaxed.owl
MONDO:0015745	biolink:NamedThing	microcephaly-polymicrogyria-corpus callosum agenesis syndrome	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.	DOVES_relaxed.owl
MONDO:0015961	biolink:NamedThing	genetic head and neck malformation		DOVES_relaxed.owl
MONDO:0016535	biolink:NamedThing	hypohidrotic ectodermal dysplasia	A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).	DOVES_relaxed.owl
MONDO:0016589	biolink:NamedThing	progressive cerebello-cerebral atrophy		DOVES_relaxed.owl
MONDO:0017131	biolink:NamedThing	genetic cardiac anomaly		DOVES_relaxed.owl
MONDO:0017140	biolink:NamedThing	L1 syndrome	L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.	DOVES_relaxed.owl
MONDO:0017406	biolink:NamedThing	hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome		DOVES_relaxed.owl
MONDO:0017904	biolink:NamedThing	steroid dehydrogenase deficiency-dental anomalies syndrome	Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.	DOVES_relaxed.owl
MONDO:0018187	biolink:NamedThing	genetic syndromic Pierre Robin syndrome		DOVES_relaxed.owl
MONDO:0018655	biolink:NamedThing	hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome		DOVES_relaxed.owl
MONDO:0018780	biolink:NamedThing	congenital generalized hypercontractile muscle stiffness syndrome		DOVES_relaxed.owl
MONDO:0018883	biolink:NamedThing	Berardinelli-Seip congenital lipodystrophy	A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.	DOVES_relaxed.owl
MONDO:0019102	biolink:NamedThing	dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome	Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterised by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0019303	biolink:NamedThing	premature aging syndrome	Changes in the organism associated with senescence, occurring at an accelerated rate.	DOVES_relaxed.owl
MONDO:0019426	biolink:NamedThing	X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome	X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive.	DOVES_relaxed.owl
MONDO:0019755	biolink:NamedThing	developmental defect during embryogenesis	A disease that has its basis in the disruption of embryonic morphogenesis.	DOVES_relaxed.owl
MONDO:0020297	biolink:NamedThing	Noonan syndrome and Noonan-related syndrome		DOVES_relaxed.owl
MONDO:0020779	biolink:NamedThing	cartilage development disorder	Any dysfunction in the growth of cartilage.	DOVES_relaxed.owl
MONDO:0021635	biolink:NamedThing	neurocristopathy	That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.	DOVES_relaxed.owl
MONDO:0022349	biolink:NamedThing	congenital absence of septum pellucidum	The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made.	DOVES_relaxed.owl
MONDO:0022606	biolink:NamedThing	branchial arch disease	A disease that involves the pharyngeal system development.	DOVES_relaxed.owl
MONDO:0024239	biolink:NamedThing	congenital anomaly of cardiovascular system	A disease that has its basis in the disruption of cardiovascular system development.	DOVES_relaxed.owl
MONDO:0043009	biolink:NamedThing	genetic lethal multiple congenital anomalies/dysmorphic syndrome	An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0045011	biolink:NamedThing	keratinization disease		DOVES_relaxed.owl
MONDO:0045019	biolink:NamedThing	lactation disease		DOVES_relaxed.owl
MONDO:0100349	biolink:NamedThing	COACH syndrome	A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability.	DOVES_relaxed.owl
MONDO:0700207	biolink:NamedThing	constitutional delay of growth and puberty	Transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed skeletal maturation, delayed and attenuated pubertal growth spurt, and relatively low insulin-like growth factor-1 secretion.	DOVES_relaxed.owl
MONDO:0000090	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions		DOVES_relaxed.owl
MONDO:0005181	biolink:NamedThing	progressive external ophthalmoplegia	A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)	DOVES_relaxed.owl
MONDO:0016810	biolink:NamedThing	autosomal recessive progressive external ophthalmoplegia	Autosomal recessive form of progressive external ophthalmoplegia.	DOVES_relaxed.owl
MONDO:0000387	biolink:NamedThing	hypochromic microcytic anemia	Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic).	DOVES_relaxed.owl
MONDO:0001356	biolink:NamedThing	iron deficiency anemia	Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss.	DOVES_relaxed.owl
MONDO:0000105	biolink:NamedThing	anemia, nonspherocytic hemolytic		DOVES_relaxed.owl
MONDO:0006506	biolink:NamedThing	congenital nonspherocytic hemolytic anemia	Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase.	DOVES_relaxed.owl
MONDO:0009950	biolink:NamedThing	pyruvate kinase deficiency of red cells	Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.	DOVES_relaxed.owl
MONDO:0013275	biolink:NamedThing	hemolytic anemia due to glucophosphate isomerase deficiency	Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.	DOVES_relaxed.owl
MONDO:0000107	biolink:NamedThing	auriculocondylar syndrome	Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.	DOVES_relaxed.owl
MONDO:0015397	biolink:NamedThing	oculo-auriculo-vertebral spectrum		DOVES_relaxed.owl
MONDO:0015398	biolink:NamedThing	hemifacial microsomia		DOVES_relaxed.owl
MONDO:0000110	biolink:NamedThing	bifid nose	Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.	DOVES_relaxed.owl
MONDO:0015412	biolink:NamedThing	median facial cleft		DOVES_relaxed.owl
MONDO:0007636	biolink:NamedThing	frontorhiny	Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.	DOVES_relaxed.owl
MONDO:0009247	biolink:NamedThing	frontofacionasal dysplasia	Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).	DOVES_relaxed.owl
MONDO:0014388	biolink:NamedThing	familial median cleft of the upper and lower lips	Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.	DOVES_relaxed.owl
MONDO:0015413	biolink:NamedThing	median cleft of the upper lip and maxilla	Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.	DOVES_relaxed.owl
MONDO:0015419	biolink:NamedThing	midline cervical cleft	Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.	DOVES_relaxed.owl
MONDO:0016062	biolink:NamedThing	median cleft lip/mandibule	Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification.	DOVES_relaxed.owl
MONDO:0015503	biolink:NamedThing	nose and cavum anomaly		DOVES_relaxed.owl
MONDO:0007200	biolink:NamedThing	blepharonasofacial malformation syndrome	Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.	DOVES_relaxed.owl
MONDO:0007398	biolink:NamedThing	craniorhiny		DOVES_relaxed.owl
MONDO:0007871	biolink:NamedThing	familial congenital nasolacrimal duct obstruction		DOVES_relaxed.owl
MONDO:0007872	biolink:NamedThing	LADD syndrome	Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.	DOVES_relaxed.owl
MONDO:0008358	biolink:NamedThing	radial ray hypoplasia-choanal atresia syndrome	Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.	DOVES_relaxed.owl
MONDO:0012064	biolink:NamedThing	choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome.	DOVES_relaxed.owl
MONDO:0012155	biolink:NamedThing	choanal atresia	Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.	DOVES_relaxed.owl
MONDO:0013324	biolink:NamedThing	lymphedema-posterior choanal atresia syndrome		DOVES_relaxed.owl
MONDO:0015237	biolink:NamedThing	arrhinia	Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.	DOVES_relaxed.owl
MONDO:0015238	biolink:NamedThing	arrhinia-choanal atresia-microphthalmia syndrome	Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	DOVES_relaxed.owl
MONDO:0015295	biolink:NamedThing	intractable diarrhea-choanal atresia-eye anomalies syndrome	Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.	DOVES_relaxed.owl
MONDO:0015387	biolink:NamedThing	nasolacrimal duct cyst	Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.	DOVES_relaxed.owl
MONDO:0015388	biolink:NamedThing	polyrrhinia	Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.	DOVES_relaxed.owl
MONDO:0015389	biolink:NamedThing	supernumerary nostril	Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.	DOVES_relaxed.owl
MONDO:0015390	biolink:NamedThing	proboscis lateralis	Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly.	DOVES_relaxed.owl
MONDO:0015392	biolink:NamedThing	nasal glial heterotopia	Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.	DOVES_relaxed.owl
MONDO:0015394	biolink:NamedThing	nasal encephalocele	Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.	DOVES_relaxed.owl
MONDO:0015568	biolink:NamedThing	isolated congenital nasal pyriform aperture stenosis		DOVES_relaxed.owl
MONDO:0015569	biolink:NamedThing	congenital nasal pyriform aperture stenosis with holoprosencephaly		DOVES_relaxed.owl
MONDO:0018757	biolink:NamedThing	supratip dysplasia	Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.	DOVES_relaxed.owl
MONDO:0018562	biolink:NamedThing	genetic otorhinolaryngological malformation		DOVES_relaxed.owl
MONDO:0007587	biolink:NamedThing	external auditory canal atresia-vertical talus-hypertelorism syndrome		DOVES_relaxed.owl
MONDO:0007876	biolink:NamedThing	laryngeal abductor paralysis		DOVES_relaxed.owl
MONDO:0007878	biolink:NamedThing	congenital laryngomalacia	Increased collapsibility of the larynx.	DOVES_relaxed.owl
MONDO:0007879	biolink:NamedThing	larynx atresia	A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.	DOVES_relaxed.owl
MONDO:0007880	biolink:NamedThing	congenital laryngeal web	Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.	DOVES_relaxed.owl
MONDO:0008180	biolink:NamedThing	congenital velopharyngeal incompetence	Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech.	DOVES_relaxed.owl
MONDO:0010920	biolink:NamedThing	microtia	A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.	DOVES_relaxed.owl
MONDO:0011227	biolink:NamedThing	short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome		DOVES_relaxed.owl
MONDO:0011340	biolink:NamedThing	congenital tracheal stenosis		DOVES_relaxed.owl
MONDO:0015385	biolink:NamedThing	external auditory canal aplasia/hypoplasia		DOVES_relaxed.owl
MONDO:0019780	biolink:NamedThing	anotia	A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.	DOVES_relaxed.owl
MONDO:0019804	biolink:NamedThing	tracheomalacia	Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.	DOVES_relaxed.owl
MONDO:0044702	biolink:NamedThing	X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome		DOVES_relaxed.owl
MONDO:0000118	biolink:NamedThing	reticulate pigment disorder		DOVES_relaxed.owl
MONDO:0019288	biolink:NamedThing	skin pigmentation disorder	A pigmentation disease that involves the zone of skin.	DOVES_relaxed.owl
MONDO:0016574	biolink:NamedThing	hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome	Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterised by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit.	DOVES_relaxed.owl
MONDO:0019289	biolink:NamedThing	hyperpigmentation of the skin		DOVES_relaxed.owl
MONDO:0019290	biolink:NamedThing	hypopigmentation of the skin	A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.	DOVES_relaxed.owl
MONDO:0000136	biolink:NamedThing	keratosis follicularis spinulosa decalvans	Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.	DOVES_relaxed.owl
MONDO:0000736	biolink:NamedThing	dyschromatosis universalis hereditaria	A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.	DOVES_relaxed.owl
MONDO:0004980	biolink:NamedThing	atopic eczema	A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.	DOVES_relaxed.owl
MONDO:0005083	biolink:NamedThing	psoriasis	An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp.	DOVES_relaxed.owl
MONDO:0006602	biolink:NamedThing	porokeratosis	A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella.	DOVES_relaxed.owl
MONDO:0007046	biolink:NamedThing	hereditary papulotranslucent acrokeratoderma	A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.	DOVES_relaxed.owl
MONDO:0007101	biolink:NamedThing	familial primary localized cutaneous amyloidosis		DOVES_relaxed.owl
MONDO:0007203	biolink:NamedThing	blue rubber bleb nevus	Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.	DOVES_relaxed.owl
MONDO:0007446	biolink:NamedThing	dermatosis papulosa nigra	A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body.	DOVES_relaxed.owl
MONDO:0007447	biolink:NamedThing	autosomal dominant vibratory urticaria	An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.	DOVES_relaxed.owl
MONDO:0007574	biolink:NamedThing	spinocerebellar ataxia type 34	A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.	DOVES_relaxed.owl
MONDO:0007619	biolink:NamedThing	isolated congenital adermatoglyphia	Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.	DOVES_relaxed.owl
MONDO:0007757	biolink:NamedThing	hyperkeratosis-hyperpigmentation syndrome	Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.	DOVES_relaxed.owl
MONDO:0007899	biolink:NamedThing	lichen sclerosus et atrophicus	A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis.	DOVES_relaxed.owl
MONDO:0007902	biolink:NamedThing	lichen planus, familial	An instance of lichen planus that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0008244	biolink:NamedThing	piebaldism	Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.	DOVES_relaxed.owl
MONDO:0008403	biolink:NamedThing	scalp defects-postaxial polydactyly syndrome	Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A.	DOVES_relaxed.owl
MONDO:0008420	biolink:NamedThing	seborrheic keratosis	A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions.	DOVES_relaxed.owl
MONDO:0008632	biolink:NamedThing	urticaria, aquagenic	Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success.	DOVES_relaxed.owl
MONDO:0008634	biolink:NamedThing	urticaria, familial localized heat		DOVES_relaxed.owl
MONDO:0008640	biolink:NamedThing	vasculitis, lymphocytic, nodular	Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis.	DOVES_relaxed.owl
MONDO:0008695	biolink:NamedThing	chorea-acanthocytosis	Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.	DOVES_relaxed.owl
MONDO:0008716	biolink:NamedThing	acrogeria	A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed.	DOVES_relaxed.owl
MONDO:0008794	biolink:NamedThing	anhidrosis, familial generalized, with abnormal or absent sweat glands		DOVES_relaxed.owl
MONDO:0009081	biolink:NamedThing	deafness, congenital, with total albinism		DOVES_relaxed.owl
MONDO:0009093	biolink:NamedThing	dermatoleukodystrophy	Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.	DOVES_relaxed.owl
MONDO:0009176	biolink:NamedThing	epidermodysplasia verruciformis	A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.	DOVES_relaxed.owl
MONDO:0009306	biolink:NamedThing	combined immunodeficiency with skin granulomas		DOVES_relaxed.owl
MONDO:0009530	biolink:NamedThing	lipoid proteinosis	Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.	DOVES_relaxed.owl
MONDO:0009925	biolink:NamedThing	autosomal recessive inherited pseudoxanthoma elasticum	An autosomal recessive form of PXE.	DOVES_relaxed.owl
MONDO:0010403	biolink:NamedThing	albinism-hearing loss syndrome	A syndromic genetic hearing loss is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.	DOVES_relaxed.owl
MONDO:0010672	biolink:NamedThing	linear skin defects with multiple congenital anomalies	A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.	DOVES_relaxed.owl
MONDO:0011024	biolink:NamedThing	dermatitis herpetiformis, familial	Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone.	DOVES_relaxed.owl
MONDO:0011371	biolink:NamedThing	hydroa vacciniforme, familial	An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0011405	biolink:NamedThing	poikiloderma with neutropenia	A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.	DOVES_relaxed.owl
MONDO:0011438	biolink:NamedThing	acne	An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin.	DOVES_relaxed.owl
MONDO:0012669	biolink:NamedThing	Legius syndrome	Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling.	DOVES_relaxed.owl
MONDO:0013806	biolink:NamedThing	familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome		DOVES_relaxed.owl
MONDO:0015279	biolink:NamedThing	chronic mucocutaneous candidiasis		DOVES_relaxed.owl
MONDO:0015947	biolink:NamedThing	inherited ichthyosis	Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0015950	biolink:NamedThing	inherited skin tumor		DOVES_relaxed.owl
MONDO:0015951	biolink:NamedThing	hereditary photodermatosis	Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.	DOVES_relaxed.owl
MONDO:0017197	biolink:NamedThing	osteopathia striata-pigmentary dermopathy-white forelock syndrome	Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.	DOVES_relaxed.owl
MONDO:0017305	biolink:NamedThing	syndromic oculocutaneous albinism	A oculocutaneous albinism that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0017411	biolink:NamedThing	neonatal inflammatory skin and bowel disease	Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.	DOVES_relaxed.owl
MONDO:0018577	biolink:NamedThing	pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa		DOVES_relaxed.owl
MONDO:0018827	biolink:NamedThing	familial chilblain lupus	An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0018910	biolink:NamedThing	oculocutaneous albinism	Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.	DOVES_relaxed.owl
MONDO:0019272	biolink:NamedThing	hereditary palmoplantar keratoderma	An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0019276	biolink:NamedThing	inherited epidermolysis bullosa	Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.	DOVES_relaxed.owl
MONDO:0019623	biolink:NamedThing	hereditary angioedema	Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.	DOVES_relaxed.owl
MONDO:0020087	biolink:NamedThing	genetic lipodystrophy	Genetic lipodystrophy.	DOVES_relaxed.owl
MONDO:0021026	biolink:NamedThing	genetic epidermal appendage anomaly	An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0021582	biolink:NamedThing	lentigo	A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy.	DOVES_relaxed.owl
MONDO:0024516	biolink:NamedThing	familial acne inversa	An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0043003	biolink:NamedThing	familial acanthosis nigricans	An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0100237	biolink:NamedThing	inherited cutis laxa	An instance of cutis laxa that is inherited.	DOVES_relaxed.owl
MONDO:0000119	biolink:NamedThing	congenital heart defects, multiple types		DOVES_relaxed.owl
MONDO:0005453	biolink:NamedThing	congenital heart disease	A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.	DOVES_relaxed.owl
MONDO:0001389	biolink:NamedThing	congenital coronary artery anomaly		DOVES_relaxed.owl
MONDO:0002078	biolink:NamedThing	heart septal defect	A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum.	DOVES_relaxed.owl
MONDO:0002442	biolink:NamedThing	long QT syndrome	A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome.	DOVES_relaxed.owl
MONDO:0008917	biolink:NamedThing	heart defects-limb shortening syndrome	Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome.	DOVES_relaxed.owl
MONDO:0011827	biolink:NamedThing	patent ductus arteriosus	A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure.	DOVES_relaxed.owl
MONDO:0015249	biolink:NamedThing	mitral atresia disorder	A congenital heart defect characterized by the complete atresia of the mitral valve.	DOVES_relaxed.owl
MONDO:0015661	biolink:NamedThing	dextrocardia	A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects.	DOVES_relaxed.owl
MONDO:0018072	biolink:NamedThing	persistent truncus arteriosus	A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death.	DOVES_relaxed.owl
MONDO:0018901	biolink:NamedThing	left ventricular noncompaction	Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.	DOVES_relaxed.owl
MONDO:0019808	biolink:NamedThing	aortic valve atresia	A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure.	DOVES_relaxed.owl
MONDO:0020295	biolink:NamedThing	congenital pulmonary veins anomaly	Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium.	DOVES_relaxed.owl
MONDO:0043127	biolink:NamedThing	mehta lewis patton syndrome		DOVES_relaxed.owl
MONDO:0100009	biolink:NamedThing	structural congenital heart disease, multiple types - GATA4	Any congenital heart disease in which the cause of the disease is a mutation in the GATA4 gene.	DOVES_relaxed.owl
MONDO:0000127	biolink:NamedThing	geleophysic dysplasia	Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').	DOVES_relaxed.owl
MONDO:0019695	biolink:NamedThing	acromelic dysplasia		DOVES_relaxed.owl
MONDO:0007055	biolink:NamedThing	acromicric dysplasia	Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.	DOVES_relaxed.owl
MONDO:0007078	biolink:NamedThing	pseudohypoparathyroidism type 1A	A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).	DOVES_relaxed.owl
MONDO:0007114	biolink:NamedThing	angel-shaped phalango-epiphyseal dysplasia	Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.	DOVES_relaxed.owl
MONDO:0007894	biolink:NamedThing	Leri pleonosteosis	Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.	DOVES_relaxed.owl
MONDO:0008227	biolink:NamedThing	peripheral dysostosis		DOVES_relaxed.owl
MONDO:0009964	biolink:NamedThing	short-rib thoracic dysplasia 9 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.	DOVES_relaxed.owl
MONDO:0010279	biolink:NamedThing	terminal osseous dysplasia-pigmentary defects syndrome	A syndrome characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.	DOVES_relaxed.owl
MONDO:0010505	biolink:NamedThing	intellectual disability-balding-patella luxation-acromicria syndrome	Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.	DOVES_relaxed.owl
MONDO:0011907	biolink:NamedThing	acrocapitofemoral dysplasia	Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.	DOVES_relaxed.owl
MONDO:0012911	biolink:NamedThing	pseudohypoparathyroidism type 1C	A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).	DOVES_relaxed.owl
MONDO:0012912	biolink:NamedThing	pseudopseudohypoparathyroidism	A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).	DOVES_relaxed.owl
MONDO:0017951	biolink:NamedThing	trichorhinophalangeal syndrome		DOVES_relaxed.owl
MONDO:0018096	biolink:NamedThing	Weill-Marchesani syndrome	Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.	DOVES_relaxed.owl
MONDO:0019406	biolink:NamedThing	craniofacial conodysplasia	Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.	DOVES_relaxed.owl
MONDO:0019797	biolink:NamedThing	acrodysostosis	Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.	DOVES_relaxed.owl
MONDO:0000128	biolink:NamedThing	giant axonal neuropathy	A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.	DOVES_relaxed.owl
MONDO:0004183	biolink:NamedThing	axonal neuropathy	Any nerve disorder affecting the axon of a nerve.	DOVES_relaxed.owl
MONDO:0017047	biolink:NamedThing	infantile axonal neuropathy		DOVES_relaxed.owl
MONDO:0007097	biolink:NamedThing	Finnish type amyloidosis		DOVES_relaxed.owl
MONDO:0007100	biolink:NamedThing	familial amyloid neuropathy	Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.	DOVES_relaxed.owl
MONDO:0007275	biolink:NamedThing	carpal tunnel syndrome	Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement.	DOVES_relaxed.owl
MONDO:0007592	biolink:NamedThing	familial recurrent peripheral facial palsy		DOVES_relaxed.owl
MONDO:0007975	biolink:NamedThing	meralgia paraesthetica, familial		DOVES_relaxed.owl
MONDO:0008047	biolink:NamedThing	episodic ataxia type 1	Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.	DOVES_relaxed.owl
MONDO:0008692	biolink:NamedThing	abetalipoproteinemia	Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.	DOVES_relaxed.owl
MONDO:0008758	biolink:NamedThing	mitochondrial DNA depletion syndrome 4a	Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.	DOVES_relaxed.owl
MONDO:0008783	biolink:NamedThing	Tangier disease	Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.	DOVES_relaxed.owl
MONDO:0008948	biolink:NamedThing	cerebrotendinous xanthomatosis	Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.	DOVES_relaxed.owl
MONDO:0009353	biolink:NamedThing	homocystinuria due to methylene tetrahydrofolate reductase deficiency	Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.	DOVES_relaxed.owl
MONDO:0009499	biolink:NamedThing	Krabbe disease	A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.	DOVES_relaxed.owl
MONDO:0009562	biolink:NamedThing	beta-mannosidosis	Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.	DOVES_relaxed.owl
MONDO:0009665	biolink:NamedThing	biotinidase deficiency	Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.	DOVES_relaxed.owl
MONDO:0009723	biolink:NamedThing	Leigh syndrome	A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.	DOVES_relaxed.owl
MONDO:0009796	biolink:NamedThing	ornithine aminotransferase deficiency	A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.	DOVES_relaxed.owl
MONDO:0009897	biolink:NamedThing	adult polyglucosan body disease	Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.	DOVES_relaxed.owl
MONDO:0009958	biolink:NamedThing	adult Refsum disease	A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.	DOVES_relaxed.owl
MONDO:0010006	biolink:NamedThing	Sandhoff disease	Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.	DOVES_relaxed.owl
MONDO:0010100	biolink:NamedThing	Tay-Sachs disease	GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.	DOVES_relaxed.owl
MONDO:0010161	biolink:NamedThing	tyrosinemia type I	Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.	DOVES_relaxed.owl
MONDO:0010184	biolink:NamedThing	methylmalonic aciduria and homocystinuria type cblC	A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0010188	biolink:NamedThing	familial isolated deficiency of vitamin E	Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.	DOVES_relaxed.owl
MONDO:0010526	biolink:NamedThing	Fabry disease	Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.	DOVES_relaxed.owl
MONDO:0010794	biolink:NamedThing	NARP syndrome	Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.	DOVES_relaxed.owl
MONDO:0011801	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.	DOVES_relaxed.owl
MONDO:0011871	biolink:NamedThing	Niemann-Pick disease type B	Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea	DOVES_relaxed.owl
MONDO:0012173	biolink:NamedThing	long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.	DOVES_relaxed.owl
MONDO:0012858	biolink:NamedThing	primary CD59 deficiency		DOVES_relaxed.owl
MONDO:0012984	biolink:NamedThing	PHARC syndrome	Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.	DOVES_relaxed.owl
MONDO:0013382	biolink:NamedThing	progressive demyelinating neuropathy with bilateral striatal necrosis	Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.	DOVES_relaxed.owl
MONDO:0014455	biolink:NamedThing	cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome		DOVES_relaxed.owl
MONDO:0014557	biolink:NamedThing	ataxia - oculomotor apraxia type 4	Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.	DOVES_relaxed.owl
MONDO:0015339	biolink:NamedThing	adrenomyeloneuropathy	An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN.	DOVES_relaxed.owl
MONDO:0015358	biolink:NamedThing	hereditary motor and sensory neuropathy	A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)	DOVES_relaxed.owl
MONDO:0015364	biolink:NamedThing	hereditary sensory and autonomic neuropathy	An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0015626	biolink:NamedThing	Charcot-Marie-Tooth disease	An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.	DOVES_relaxed.owl
MONDO:0017629	biolink:NamedThing	sodium channelopathy-related small fiber neuropathy		DOVES_relaxed.owl
MONDO:0018133	biolink:NamedThing	attenuated Chédiak-Higashi syndrome	Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	DOVES_relaxed.owl
MONDO:0018151	biolink:NamedThing	coenzyme Q10 deficiency	A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.	DOVES_relaxed.owl
MONDO:0018319	biolink:NamedThing	familial episodic pain syndrome		DOVES_relaxed.owl
MONDO:0018576	biolink:NamedThing	non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy		DOVES_relaxed.owl
MONDO:0018868	biolink:NamedThing	metachromatic leukodystrophy	A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.	DOVES_relaxed.owl
MONDO:0018894	biolink:NamedThing	distal hereditary motor neuropathy		DOVES_relaxed.owl
MONDO:0018996	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.	DOVES_relaxed.owl
MONDO:0019079	biolink:NamedThing	proximal spinal muscular atrophy	Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	DOVES_relaxed.owl
MONDO:0019234	biolink:NamedThing	peroxisome biogenesis disorder	Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).	DOVES_relaxed.owl
MONDO:0024457	biolink:NamedThing	neurodegeneration with brain iron accumulation 2A		DOVES_relaxed.owl
MONDO:0034092	biolink:NamedThing	optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome		DOVES_relaxed.owl
MONDO:0044622	biolink:NamedThing	EMILIN-1-related connective tissue disease		DOVES_relaxed.owl
MONDO:0800304	biolink:NamedThing	neuropathy, hereditary sensory and autonomic, type IId		DOVES_relaxed.owl
MONDO:0000129	biolink:NamedThing	glutaric aciduria		DOVES_relaxed.owl
MONDO:0005066	biolink:NamedThing	metabolic disease	A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.	DOVES_relaxed.owl
MONDO:0000226	biolink:NamedThing	mineral metabolism disease		DOVES_relaxed.owl
MONDO:0000721	biolink:NamedThing	xanthinuria	A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.	DOVES_relaxed.owl
MONDO:0001314	biolink:NamedThing	chondrocalcinosis	An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints.	DOVES_relaxed.owl
MONDO:0002908	biolink:NamedThing	glucose metabolism disease	A metabolic disorder characterized by abnormal blood glucose levels.	DOVES_relaxed.owl
MONDO:0005016	biolink:NamedThing	diabetic kidney disease	Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis.	DOVES_relaxed.owl
MONDO:0005236	biolink:NamedThing	xanthoma	A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues.	DOVES_relaxed.owl
MONDO:0005266	biolink:NamedThing	diabetic retinopathy	A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness.	DOVES_relaxed.owl
MONDO:0005347	biolink:NamedThing	hypertriglyceridemia	A laboratory test result indicating elevated triglyceride concentration in the blood.	DOVES_relaxed.owl
MONDO:0005393	biolink:NamedThing	gout	A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals.	DOVES_relaxed.owl
MONDO:0006040	biolink:NamedThing	lactic acidosis	Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia.	DOVES_relaxed.owl
MONDO:0006504	biolink:NamedThing	acquired metabolic disease	An instance of metabolic disease that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0006573	biolink:NamedThing	lipodystrophy	A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body.	DOVES_relaxed.owl
MONDO:0010132	biolink:NamedThing	familial thyroid dyshormonogenesis	A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.	DOVES_relaxed.owl
MONDO:0015327	biolink:NamedThing	developmental anomaly of metabolic origin		DOVES_relaxed.owl
MONDO:0017773	biolink:NamedThing	hypoalphalipoproteinemia	A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood.	DOVES_relaxed.owl
MONDO:0020696	biolink:NamedThing	vitamin B12 deficiency	A disease characterized by low serum levels of vitamin B12, either inherited or acquired.	DOVES_relaxed.owl
MONDO:0021179	biolink:NamedThing	proteostasis deficiencies	Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins.	DOVES_relaxed.owl
MONDO:0021187	biolink:NamedThing	hyperlipidemia		DOVES_relaxed.owl
MONDO:0024322	biolink:NamedThing	disorder of glycosylation	A disease that has its basis in the disruption of glycosylation.	DOVES_relaxed.owl
MONDO:0024431	biolink:NamedThing	bilirubin metabolism disease		DOVES_relaxed.owl
MONDO:0037748	biolink:NamedThing	hyperlipoproteinemia	An elevated concentration of lipoproteins.	DOVES_relaxed.owl
MONDO:0037792	biolink:NamedThing	carbohydrate metabolism disease	A disease that has its basis in the disruption of carbohydrate metabolic process.	DOVES_relaxed.owl
MONDO:0037821	biolink:NamedThing	porphyrin metabolism disease	A disease that has its basis in the disruption of porphyrin-containing compound metabolic process.	DOVES_relaxed.owl
MONDO:0037829	biolink:NamedThing	purine metabolism disease	A disease that has its basis in the disruption of purine nucleobase metabolic process.	DOVES_relaxed.owl
MONDO:0037937	biolink:NamedThing	pyrimidine metabolism disease	A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process.	DOVES_relaxed.owl
MONDO:0041261	biolink:NamedThing	disorder of acid-base balance		DOVES_relaxed.owl
MONDO:0042970	biolink:NamedThing	disorder of glutamate decarboxylase	A disease that has its basis in the disruption of glutamate decarboxylase activity.	DOVES_relaxed.owl
MONDO:0044092	biolink:NamedThing	collagenous sprue	A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal.	DOVES_relaxed.owl
MONDO:0045012	biolink:NamedThing	steroid metabolism disease	A disease that has its basis in the disruption of steroid metabolic process.	DOVES_relaxed.owl
MONDO:0045022	biolink:NamedThing	disorder of organic acid metabolism	A disease that has its basis in the disruption of organic acid metabolic process.	DOVES_relaxed.owl
MONDO:0400003	biolink:NamedThing	skeletal fluorosis	A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain.	DOVES_relaxed.owl
MONDO:0000133	biolink:NamedThing	immunodeficiency-centromeric instability-facial anomalies syndrome	The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.	DOVES_relaxed.owl
MONDO:0006025	biolink:NamedThing	autosomal recessive disease	Autosomal recessive form of disease.	DOVES_relaxed.owl
MONDO:0000212	biolink:NamedThing	hypercalcemia, infantile	A hypercalcemia disease that occurs between 28 days to one year of life..	DOVES_relaxed.owl
MONDO:0000463	biolink:NamedThing	Ochoa syndrome	Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.	DOVES_relaxed.owl
MONDO:0001982	biolink:NamedThing	Niemann-Pick disease	A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.	DOVES_relaxed.owl
MONDO:0002014	biolink:NamedThing	autosomal recessive Ehlers-Danlos syndrome, vascular type	The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.	DOVES_relaxed.owl
MONDO:0006037	biolink:NamedThing	hydrolethalus syndrome	Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.	DOVES_relaxed.owl
MONDO:0007477	biolink:NamedThing	3-M syndrome	3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.	DOVES_relaxed.owl
MONDO:0007747	biolink:NamedThing	isolated hyperchlorhidrosis		DOVES_relaxed.owl
MONDO:0008158	biolink:NamedThing	dacryocystitis-osteopoikilosis syndrome	Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).	DOVES_relaxed.owl
MONDO:0008310	biolink:NamedThing	Hutchinson-Gilford progeria syndrome	Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).	DOVES_relaxed.owl
MONDO:0008406	biolink:NamedThing	autosomal recessive Emery-Dreifuss muscular dystrophy	Autosomal recessive form of Emery-Dreifuss muscular dystrophy.	DOVES_relaxed.owl
MONDO:0008699	biolink:NamedThing	achalasia microcephaly syndrome	Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed.	DOVES_relaxed.owl
MONDO:0008719	biolink:NamedThing	acrorenal syndrome, autosomal recessive	Autosomal recessive form of acrorenal syndrome.	DOVES_relaxed.owl
MONDO:0008760	biolink:NamedThing	beta-ketothiolase deficiency	Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.	DOVES_relaxed.owl
MONDO:0008762	biolink:NamedThing	autosomal recessive Alport syndrome	Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.	DOVES_relaxed.owl
MONDO:0008763	biolink:NamedThing	Alstrom syndrome	A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.	DOVES_relaxed.owl
MONDO:0008800	biolink:NamedThing	microphthalmia with limb anomalies	Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.	DOVES_relaxed.owl
MONDO:0008828	biolink:NamedThing	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.	DOVES_relaxed.owl
MONDO:0008858	biolink:NamedThing	Behr syndrome	A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.	DOVES_relaxed.owl
MONDO:0008866	biolink:NamedThing	bifid nose, autosomal recessive	Autosomal recessive form of bifid nose.	DOVES_relaxed.owl
MONDO:0008879	biolink:NamedThing	Bowen-Conradi syndrome	Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.	DOVES_relaxed.owl
MONDO:0008900	biolink:NamedThing	camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia	Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.	DOVES_relaxed.owl
MONDO:0008923	biolink:NamedThing	autosomal recessive palmoplantar keratoderma and congenital alopecia	Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.	DOVES_relaxed.owl
MONDO:0008926	biolink:NamedThing	COFS syndrome	Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.	DOVES_relaxed.owl
MONDO:0009035	biolink:NamedThing	craniometaphyseal dysplasia, autosomal recessive	Autosomal recessive form of craniometaphyseal dysplasia.	DOVES_relaxed.owl
MONDO:0009046	biolink:NamedThing	Fraser syndrome	Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.	DOVES_relaxed.owl
MONDO:0009061	biolink:NamedThing	cystic fibrosis	Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.	DOVES_relaxed.owl
MONDO:0009092	biolink:NamedThing	polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly	A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.	DOVES_relaxed.owl
MONDO:0009097	biolink:NamedThing	persistent hyperplastic primary vitreous, autosomal recessive	Autosomal recessive form of persistent hyperplastic primary vitreous.	DOVES_relaxed.owl
MONDO:0009104	biolink:NamedThing	Donnai-Barrow syndrome	Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.	DOVES_relaxed.owl
MONDO:0009145	biolink:NamedThing	SchC6pf-Schulz-Passarge syndrome	A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.	DOVES_relaxed.owl
MONDO:0009151	biolink:NamedThing	cleft lip/palate-ectodermal dysplasia syndrome	An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.	DOVES_relaxed.owl
MONDO:0009162	biolink:NamedThing	Ellis-van Creveld syndrome	Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.	DOVES_relaxed.owl
MONDO:0009192	biolink:NamedThing	Wolcott-Rallison syndrome	Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.	DOVES_relaxed.owl
MONDO:0009209	biolink:NamedThing	autosomal recessive faciodigitogenital syndrome	Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.	DOVES_relaxed.owl
MONDO:0009231	biolink:NamedThing	acromesomelic dysplasia 2B		DOVES_relaxed.owl
MONDO:0009242	biolink:NamedThing	brittle cornea syndrome	Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.	DOVES_relaxed.owl
MONDO:0009356	biolink:NamedThing	autosomal recessive humeroradial synostosis	Autosomal recessive form of humeroradial synostosis (disease).	DOVES_relaxed.owl
MONDO:0009359	biolink:NamedThing	multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome		DOVES_relaxed.owl
MONDO:0009360	biolink:NamedThing	hydrocephalus, nonsyndromic, autosomal recessive 1	Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene.	DOVES_relaxed.owl
MONDO:0009361	biolink:NamedThing	autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius		DOVES_relaxed.owl
MONDO:0009404	biolink:NamedThing	hypertelorism, microtia, facial clefting syndrome	Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.	DOVES_relaxed.owl
MONDO:0009426	biolink:NamedThing	hypoparathyroidism-retardation-dysmorphism syndrome	Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.	DOVES_relaxed.owl
MONDO:0009452	biolink:NamedThing	Vici syndrome	A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.	DOVES_relaxed.owl
MONDO:0009465	biolink:NamedThing	multiple intestinal atresia	A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.	DOVES_relaxed.owl
MONDO:0009486	biolink:NamedThing	autosomal recessive Kenny-Caffey syndrome	An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.	DOVES_relaxed.owl
MONDO:0009490	biolink:NamedThing	Papillon-Lefevre disease	Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.	DOVES_relaxed.owl
MONDO:0009491	biolink:NamedThing	Haim-Munk syndrome	Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.	DOVES_relaxed.owl
MONDO:0009517	biolink:NamedThing	Donohue syndrome	Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation.	DOVES_relaxed.owl
MONDO:0009527	biolink:NamedThing	lipase deficiency, combined	A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.	DOVES_relaxed.owl
MONDO:0009572	biolink:NamedThing	autosomal recessive familial Mediterranean fever	Autosomal recessive form of familial Mediterranean fever.	DOVES_relaxed.owl
MONDO:0009575	biolink:NamedThing	thiamine-responsive megaloblastic anemia syndrome	Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.	DOVES_relaxed.owl
MONDO:0009595	biolink:NamedThing	cartilage-hair hypoplasia	Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.	DOVES_relaxed.owl
MONDO:0009623	biolink:NamedThing	Nijmegen breakage syndrome	Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.	DOVES_relaxed.owl
MONDO:0009626	biolink:NamedThing	pseudo-TORCH syndrome	A Mendelian disease characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.	DOVES_relaxed.owl
MONDO:0009627	biolink:NamedThing	Galloway-Mowat syndrome	Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.	DOVES_relaxed.owl
MONDO:0009715	biolink:NamedThing	myotonia congenita, autosomal recessive	Autosomal recessive form of myotonia congenita.	DOVES_relaxed.owl
MONDO:0009726	biolink:NamedThing	proteosome-associated autoinflammatory syndrome		DOVES_relaxed.owl
MONDO:0009735	biolink:NamedThing	Netherton syndrome	Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.	DOVES_relaxed.owl
MONDO:0009768	biolink:NamedThing	oculodentodigital dysplasia, autosomal recessive	Autosomal recessive form of oculodentodigital dysplasia.	DOVES_relaxed.owl
MONDO:0009773	biolink:NamedThing	odonto-onycho-dermal dysplasia	A form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.	DOVES_relaxed.owl
MONDO:0009779	biolink:NamedThing	autosomal recessive omodysplasia	Autosomal recessive form of omodysplasia.	DOVES_relaxed.owl
MONDO:0009820	biolink:NamedThing	osteoporosis-pseudoglioma syndrome	Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.	DOVES_relaxed.owl
MONDO:0009833	biolink:NamedThing	Shwachman-Diamond syndrome	Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.	DOVES_relaxed.owl
MONDO:0009861	biolink:NamedThing	phenylketonuria	Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.	DOVES_relaxed.owl
MONDO:0009872	biolink:NamedThing	Bjornstad syndrome	Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome.	DOVES_relaxed.owl
MONDO:0009877	biolink:NamedThing	Laron syndrome	Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.	DOVES_relaxed.owl
MONDO:0009889	biolink:NamedThing	autosomal recessive polycystic kidney disease	An inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.	DOVES_relaxed.owl
MONDO:0009926	biolink:NamedThing	autosomal recessive multiple pterygium syndrome	A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.	DOVES_relaxed.owl
MONDO:0009955	biolink:NamedThing	rapadilino syndrome	RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.	DOVES_relaxed.owl
MONDO:0009999	biolink:NamedThing	autosomal recessive Robinow syndrome	Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.	DOVES_relaxed.owl
MONDO:0010031	biolink:NamedThing	Sjogren-Larsson syndrome	A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.	DOVES_relaxed.owl
MONDO:0010058	biolink:NamedThing	scapuloperoneal spinal muscular atrophy, autosomal recessive		DOVES_relaxed.owl
MONDO:0010072	biolink:NamedThing	spondyloepiphyseal dysplasia tarda, autosomal recessive	Autosomal recessive form of spondyloepiphyseal dysplasia tarda.	DOVES_relaxed.owl
MONDO:0010118	biolink:NamedThing	inherited threoninemia		DOVES_relaxed.owl
MONDO:0010134	biolink:NamedThing	Pendred syndrome	Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.	DOVES_relaxed.owl
MONDO:0010180	biolink:NamedThing	autosomal recessive spondylocostal dysostosis	Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.	DOVES_relaxed.owl
MONDO:0010196	biolink:NamedThing	Werner syndrome	A rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.	DOVES_relaxed.owl
MONDO:0010895	biolink:NamedThing	ABCD syndrome	An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).	DOVES_relaxed.owl
MONDO:0011017	biolink:NamedThing	Naxos disease	A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.	DOVES_relaxed.owl
MONDO:0011054	biolink:NamedThing	autosomal recessive amelia	Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.	DOVES_relaxed.owl
MONDO:0011099	biolink:NamedThing	human HOXA1 syndromes	Human HOXA1 syndromes is characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0011382	biolink:NamedThing	sickle cell anemia	Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.	DOVES_relaxed.owl
MONDO:0011422	biolink:NamedThing	autosomal recessive proximal renal tubular acidosis	Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.	DOVES_relaxed.owl
MONDO:0011528	biolink:NamedThing	hyper-IgM syndrome type 2	A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers.	DOVES_relaxed.owl
MONDO:0011533	biolink:NamedThing	temtamy preaxial brachydactyly syndrome	An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.	DOVES_relaxed.owl
MONDO:0011551	biolink:NamedThing	TH-deficient dopa-responsive dystonia	Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.	DOVES_relaxed.owl
MONDO:0011679	biolink:NamedThing	craniosynostosis syndrome, autosomal recessive	Autosomal recessive form of craniosynostosis.	DOVES_relaxed.owl
MONDO:0011882	biolink:NamedThing	skin fragility-woolly hair-palmoplantar keratoderma syndrome		DOVES_relaxed.owl
MONDO:0011978	biolink:NamedThing	CoQ-responsive OXPHOS deficiency		DOVES_relaxed.owl
MONDO:0012041	biolink:NamedThing	familial adenomatous polyposis 2	An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur.	DOVES_relaxed.owl
MONDO:0012184	biolink:NamedThing	Pierson syndrome	Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.	DOVES_relaxed.owl
MONDO:0012530	biolink:NamedThing	palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.	DOVES_relaxed.owl
MONDO:0012557	biolink:NamedThing	cardiomyopathy-hypotonia-lactic acidosis syndrome	Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.	DOVES_relaxed.owl
MONDO:0012991	biolink:NamedThing	Kahrizi syndrome	An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene.	DOVES_relaxed.owl
MONDO:0013170	biolink:NamedThing	cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13	DOVES_relaxed.owl
MONDO:0013361	biolink:NamedThing	congenital prothrombin deficiency	Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.	DOVES_relaxed.owl
MONDO:0013519	biolink:NamedThing	dyskeratosis congenita, autosomal recessive 2	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.	DOVES_relaxed.owl
MONDO:0013520	biolink:NamedThing	dyskeratosis congenita, autosomal recessive 3	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1.	DOVES_relaxed.owl
MONDO:0013523	biolink:NamedThing	Nestor-Guillermo progeria syndrome		DOVES_relaxed.owl
MONDO:0013803	biolink:NamedThing	leukoencephalopathy with calcifications and cysts		DOVES_relaxed.owl
MONDO:0013970	biolink:NamedThing	branched-chain keto acid dehydrogenase kinase deficiency	A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.	DOVES_relaxed.owl
MONDO:0014076	biolink:NamedThing	dyskeratosis congenita, autosomal recessive 5	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.	DOVES_relaxed.owl
MONDO:0014131	biolink:NamedThing	hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0014219	biolink:NamedThing	alacrima, achalasia, and intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0014412	biolink:NamedThing	hyperlipoproteinemia, type 1D	Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.	DOVES_relaxed.owl
MONDO:0014516	biolink:NamedThing	microcephaly and chorioretinopathy 2	Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene.	DOVES_relaxed.owl
MONDO:0014753	biolink:NamedThing	autosomal recessive optic atrophy		DOVES_relaxed.owl
MONDO:0014864	biolink:NamedThing	hypermanganesemia with dystonia 2	Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene.	DOVES_relaxed.owl
MONDO:0014953	biolink:NamedThing	gnb5-related intellectual disability-cardiac arrhythmia syndrome		DOVES_relaxed.owl
MONDO:0015089	biolink:NamedThing	autosomal recessive complex spastic paraplegia	Autosomal recessive form of complex hereditary spastic paraplegia.	DOVES_relaxed.owl
MONDO:0015090	biolink:NamedThing	autosomal recessive pure spastic paraplegia	Autosomal recessive form of pure hereditary spastic paraplegia.	DOVES_relaxed.owl
MONDO:0015152	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive form of limb-girdle muscular dystrophy.	DOVES_relaxed.owl
MONDO:0015229	biolink:NamedThing	Bardet-Biedl syndrome	A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems	DOVES_relaxed.owl
MONDO:0015244	biolink:NamedThing	autosomal recessive cerebellar ataxia	Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.	DOVES_relaxed.owl
MONDO:0015361	biolink:NamedThing	autosomal recessive hereditary demyelinating motor and sensory neuropathy		DOVES_relaxed.owl
MONDO:0015363	biolink:NamedThing	autosomal recessive distal hereditary motor neuropathy	Autosomal recessive form of distal hereditary motor neuropathy.	DOVES_relaxed.owl
MONDO:0015366	biolink:NamedThing	autosomal recessive hereditary sensory and autonomic neuropathy	Autosomal recessive form of hereditary sensory and autonomic neuropathy.	DOVES_relaxed.owl
MONDO:0015797	biolink:NamedThing	UV-sensitive syndrome	UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.	DOVES_relaxed.owl
MONDO:0016002	biolink:NamedThing	Ehlers-Danlos syndrome, kyphoscoliotic type 1	A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.	DOVES_relaxed.owl
MONDO:0016006	biolink:NamedThing	Cockayne syndrome	A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.	DOVES_relaxed.owl
MONDO:0016109	biolink:NamedThing	autosomal recessive distal myopathy	Autosomal recessive form of distal myopathy.	DOVES_relaxed.owl
MONDO:0016543	biolink:NamedThing	hyperphenylalaninemia due to tetrahydrobiopterin deficiency	Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.	DOVES_relaxed.owl
MONDO:0016545	biolink:NamedThing	leukoencephalopathy-palmoplantar keratoderma syndrome	Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.	DOVES_relaxed.owl
MONDO:0016619	biolink:NamedThing	autosomal recessive hypohidrotic ectodermal dysplasia	A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.	DOVES_relaxed.owl
MONDO:0016647	biolink:NamedThing	autosomal recessive Stickler syndrome	A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.	DOVES_relaxed.owl
MONDO:0016649	biolink:NamedThing	Warburg micro syndrome	Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	DOVES_relaxed.owl
MONDO:0016660	biolink:NamedThing	autosomal recessive primary microcephaly	Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.	DOVES_relaxed.owl
MONDO:0016817	biolink:NamedThing	Meier-Gorlin syndrome	Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).	DOVES_relaxed.owl
MONDO:0016828	biolink:NamedThing	autosomal recessive sideroblastic anemia	Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.	DOVES_relaxed.owl
MONDO:0017058	biolink:NamedThing	autosomal recessive intermediate Charcot-Marie-Tooth disease	Autosomal recessive form of intermediate Charcot-Marie-Tooth disease.	DOVES_relaxed.owl
MONDO:0017265	biolink:NamedThing	autosomal recessive congenital ichthyosis	Autosomal recessive form of inherited ichthyosis.	DOVES_relaxed.owl
MONDO:0017312	biolink:NamedThing	Perrault syndrome	Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.	DOVES_relaxed.owl
MONDO:0017324	biolink:NamedThing	autosomal recessive hypophosphatemic rickets	Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.	DOVES_relaxed.owl
MONDO:0017569	biolink:NamedThing	de Barsy syndrome	A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.	DOVES_relaxed.owl
MONDO:0017570	biolink:NamedThing	leukocyte adhesion deficiency	Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.	DOVES_relaxed.owl
MONDO:0017842	biolink:NamedThing	Senior-Loken syndrome	Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.	DOVES_relaxed.owl
MONDO:0017847	biolink:NamedThing	autosomal recessive spastic ataxia	Autosomal recessive form of spastic ataxia.	DOVES_relaxed.owl
MONDO:0018218	biolink:NamedThing	autosomal recessive cerebral atrophy		DOVES_relaxed.owl
MONDO:0018274	biolink:NamedThing	GM3 synthase deficiency	GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications.	DOVES_relaxed.owl
MONDO:0018440	biolink:NamedThing	autosomal recessive distal renal tubular acidosis	Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.	DOVES_relaxed.owl
MONDO:0018662	biolink:NamedThing	autosomal recessive brachyolmia	Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.	DOVES_relaxed.owl
MONDO:0018866	biolink:NamedThing	Aicardi-Goutieres syndrome	Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.	DOVES_relaxed.owl
MONDO:0018964	biolink:NamedThing	homocystinuria without methylmalonic aciduria	Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).	DOVES_relaxed.owl
MONDO:0019005	biolink:NamedThing	nephronophthisis	Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.	DOVES_relaxed.owl
MONDO:0019026	biolink:NamedThing	autosomal recessive osteopetrosis	An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration.	DOVES_relaxed.owl
MONDO:0019342	biolink:NamedThing	Seckel syndrome	A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.	DOVES_relaxed.owl
MONDO:0019501	biolink:NamedThing	Usher syndrome	A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.	DOVES_relaxed.owl
MONDO:0019502	biolink:NamedThing	autosomal recessive non-syndromic intellectual disability	Autosomal recessive form of non-syndromic intellectual disability.	DOVES_relaxed.owl
MONDO:0019572	biolink:NamedThing	autosomal recessive cutis laxa type 1	Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).	DOVES_relaxed.owl
MONDO:0019573	biolink:NamedThing	autosomal recessive cutis laxa type 2	A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).	DOVES_relaxed.owl
MONDO:0019588	biolink:NamedThing	hearing loss, autosomal recessive	Autosomal recessive form of nonsyndromic deafness.	DOVES_relaxed.owl
MONDO:0020096	biolink:NamedThing	autosomal recessive isolated diffuse palmoplantar keratoderma	Autosomal recessive form of isolated diffuse palmoplantar keratoderma.	DOVES_relaxed.owl
MONDO:0020628	biolink:NamedThing	microcephaly, growth restriction, and increased sister chromatid exchange 2		DOVES_relaxed.owl
MONDO:0020781	biolink:NamedThing	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		DOVES_relaxed.owl
MONDO:0020831	biolink:NamedThing	congenital vertebral-cardiac-renal anomalies syndrome		DOVES_relaxed.owl
MONDO:0022316	biolink:NamedThing	hair defect with photosensitivity and intellectual disability syndrome	Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents.	DOVES_relaxed.owl
MONDO:0028226	biolink:NamedThing	autosomal recessive severe congenital neutropenia		DOVES_relaxed.owl
MONDO:0029134	biolink:NamedThing	severe combined immunodeficiency due to CARMIL2 deficiency		DOVES_relaxed.owl
MONDO:0030837	biolink:NamedThing	neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems.	DOVES_relaxed.owl
MONDO:0032724	biolink:NamedThing	spondyloepimetaphyseal dysplasia with joint laxity, type 3		DOVES_relaxed.owl
MONDO:0033187	biolink:NamedThing	combined oxidative phosphorylation defect type 29		DOVES_relaxed.owl
MONDO:0033672	biolink:NamedThing	Duane anomaly-myopathy-scoliosis syndrome	Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.	DOVES_relaxed.owl
MONDO:0033850	biolink:NamedThing	autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect		DOVES_relaxed.owl
MONDO:0033968	biolink:NamedThing	immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome		DOVES_relaxed.owl
MONDO:0034109	biolink:NamedThing	congenital myopathy with reduced type 2 muscle fibers		DOVES_relaxed.owl
MONDO:0034121	biolink:NamedThing	NAD(P)HX dehydratase deficiency		DOVES_relaxed.owl
MONDO:0034186	biolink:NamedThing	autosomal recessive extra-oral halitosis		DOVES_relaxed.owl
MONDO:0040653	biolink:NamedThing	autosomal recessive ocular albinism	Autosomal recessive form of ocular albinism (disease).	DOVES_relaxed.owl
MONDO:0043106	biolink:NamedThing	ichthyosis linearis circumflexa		DOVES_relaxed.owl
MONDO:0043364	biolink:NamedThing	eosinophil peroxidase deficiency	A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix.	DOVES_relaxed.owl
MONDO:0044304	biolink:NamedThing	hyperphenylalaninemia due to DNAJC12 deficiency	Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}).	DOVES_relaxed.owl
MONDO:0054813	biolink:NamedThing	Ehlers-Danlos syndrome, classic-like, 2		DOVES_relaxed.owl
MONDO:0060556	biolink:NamedThing	joint laxity, short stature, and myopia		DOVES_relaxed.owl
MONDO:0060564	biolink:NamedThing	HELIX syndrome		DOVES_relaxed.owl
MONDO:0060582	biolink:NamedThing	auditory neuropathy-optic atrophy syndrome		DOVES_relaxed.owl
MONDO:0100095	biolink:NamedThing	neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.	DOVES_relaxed.owl
MONDO:0100121	biolink:NamedThing	SCN4A-related myopathy, autosomal recessive	Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy.	DOVES_relaxed.owl
MONDO:0100144	biolink:NamedThing	Uner Tan Syndrome	A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations.	DOVES_relaxed.owl
MONDO:0100151	biolink:NamedThing	nephropathic cystinosis	An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.	DOVES_relaxed.owl
MONDO:0100156	biolink:NamedThing	Imerslund-Grasbeck syndrome type 1	An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances.	DOVES_relaxed.owl
MONDO:0100157	biolink:NamedThing	Imerslund-Grasbeck syndrome type 2	An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF).	DOVES_relaxed.owl
MONDO:0100165	biolink:NamedThing	permanent neonatal diabetes mellitus 1	A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well.	DOVES_relaxed.owl
MONDO:0100211	biolink:NamedThing	growth hormone insensitivity with immune dysregulation 1, autosomal recessive		DOVES_relaxed.owl
MONDO:0100215	biolink:NamedThing	Rajab interstitial lung disease with brain calcifications 1		DOVES_relaxed.owl
MONDO:0100253	biolink:NamedThing	Roberts-SC phocomelia syndrome	A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.	DOVES_relaxed.owl
MONDO:0100348	biolink:NamedThing	neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems.	DOVES_relaxed.owl
MONDO:0100368	biolink:NamedThing	RPE65-related recessive retinopathy	A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.	DOVES_relaxed.owl
MONDO:0100453	biolink:NamedThing	GUCY2D-related recessive retinopathy	A retinopathy caused by biallelic variants in the GUCY2D gene.	DOVES_relaxed.owl
MONDO:0100493	biolink:NamedThing	autosomal recessive titinopathy	Autosomal recessive form of TTN-related myopathy.	DOVES_relaxed.owl
MONDO:0800399	biolink:NamedThing	RP1-related recessive retinopathy	An autosomal dominant retinopathy caused by variants in the RP1 gene.	DOVES_relaxed.owl
MONDO:0100137	biolink:NamedThing	telomere syndrome	Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths.	DOVES_relaxed.owl
MONDO:0007485	biolink:NamedThing	dyskeratosis congenita, autosomal dominant 1	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2.	DOVES_relaxed.owl
MONDO:0010002	biolink:NamedThing	Rothmund-Thomson syndrome	Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.	DOVES_relaxed.owl
MONDO:0012815	biolink:NamedThing	Coats plus syndrome	Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.	DOVES_relaxed.owl
MONDO:0018835	biolink:NamedThing	nodular regenerative hyperplasia of the liver	Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins.	DOVES_relaxed.owl
MONDO:0019391	biolink:NamedThing	Fanconi anemia	Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.	DOVES_relaxed.owl
MONDO:0800029	biolink:NamedThing	interstitial lung disease 2	A nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.	DOVES_relaxed.owl
MONDO:0006552	biolink:NamedThing	folliculitis	Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds.	DOVES_relaxed.owl
MONDO:0023076	biolink:NamedThing	eosinophilic pustular folliculitis	Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition.	DOVES_relaxed.owl
MONDO:0024283	biolink:NamedThing	Demodex folliculitis	A demodicidosis that involves the hair follicle.	DOVES_relaxed.owl
MONDO:0043468	biolink:NamedThing	acne keloid	A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent.	DOVES_relaxed.owl
MONDO:0006566	biolink:NamedThing	keratosis	A skin disorder consisting of hypertrophy of the stratum corneum of the skin.	DOVES_relaxed.owl
MONDO:0006522	biolink:NamedThing	acquired keratosis	Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications.	DOVES_relaxed.owl
MONDO:0006530	biolink:NamedThing	cholesteatoma	A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures.	DOVES_relaxed.owl
MONDO:0006590	biolink:NamedThing	palmoplantar keratosis	A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.	DOVES_relaxed.owl
MONDO:0007048	biolink:NamedThing	acrokeratosis verruciformis	A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows.	DOVES_relaxed.owl
MONDO:0043206	biolink:NamedThing	trichostasis spinulosa	Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown.	DOVES_relaxed.owl
MONDO:0018855	biolink:NamedThing	keratosis pilaris atrophicans	An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair.	DOVES_relaxed.owl
MONDO:0008849	biolink:NamedThing	atrophoderma vermiculata		DOVES_relaxed.owl
MONDO:0018086	biolink:NamedThing	ulerythema ophryogenesis	Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.	DOVES_relaxed.owl
MONDO:0020162	biolink:NamedThing	secondary ectropion		DOVES_relaxed.owl
MONDO:0007201	biolink:NamedThing	blepharophimosis, ptosis, and epicanthus inversus syndrome	Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II).	DOVES_relaxed.owl
MONDO:0007922	biolink:NamedThing	lymphedema-distichiasis syndrome	Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.	DOVES_relaxed.owl
MONDO:0008853	biolink:NamedThing	Barber-Say syndrome	Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.	DOVES_relaxed.owl
MONDO:0009903	biolink:NamedThing	postaxial acrofacial dysostosis	Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.	DOVES_relaxed.owl
MONDO:0009910	biolink:NamedThing	Wiedemann-Rautenstrauch syndrome	Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.	DOVES_relaxed.owl
MONDO:0017778	biolink:NamedThing	lamellar ichthyosis	A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.	DOVES_relaxed.owl
MONDO:0800159	biolink:NamedThing	disorder of polyamine metabolism	An inherited metabolic disease that has its basis in the disruption of the polyamine metabolic process.	DOVES_relaxed.owl
MONDO:0007205	biolink:NamedThing	diaphyseal medullary stenosis-bone malignancy syndrome	Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).	DOVES_relaxed.owl
MONDO:0010664	biolink:NamedThing	syndromic X-linked intellectual disability Snyder type	Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.	DOVES_relaxed.owl
MONDO:0033642	biolink:NamedThing	neurodevelopmental disorder with alopecia and brain abnormalities		DOVES_relaxed.owl
MONDO:0005560	biolink:NamedThing	brain disorder	A disease affecting the brain or part of the brain.	DOVES_relaxed.owl
MONDO:0000489	biolink:NamedThing	diabetic encephalopathy	A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.	DOVES_relaxed.owl
MONDO:0001150	biolink:NamedThing	hydrocephalus	A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain.	DOVES_relaxed.owl
MONDO:0001291	biolink:NamedThing	brain compression		DOVES_relaxed.owl
MONDO:0001706	biolink:NamedThing	cerebral sarcoidosis	Sarcoidosis of the cerebrum.	DOVES_relaxed.owl
MONDO:0001711	biolink:NamedThing	hepatic encephalopathy	Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis.	DOVES_relaxed.owl
MONDO:0001834	biolink:NamedThing	visual pathway disorder	A disorder of the neural pathway from the optic nerve to the visual cortex.	DOVES_relaxed.owl
MONDO:0002317	biolink:NamedThing	central nervous system origin vertigo	An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)	DOVES_relaxed.owl
MONDO:0002427	biolink:NamedThing	cerebellar disorder	Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia.	DOVES_relaxed.owl
MONDO:0002727	biolink:NamedThing	olfactory nerve disorder	A disease involving the olfactory nerve.	DOVES_relaxed.owl
MONDO:0003081	biolink:NamedThing	thalamic disorder	A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma.	DOVES_relaxed.owl
MONDO:0003381	biolink:NamedThing	pituitary gland disorder	A disease involving the pituitary gland.	DOVES_relaxed.owl
MONDO:0003568	biolink:NamedThing	disorder of optic chiasm	A disease that involves the optic chiasma.	DOVES_relaxed.owl
MONDO:0003996	biolink:NamedThing	basal ganglia disorder	A disease involving the basal ganglia.	DOVES_relaxed.owl
MONDO:0005027	biolink:NamedThing	epilepsy	A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.	DOVES_relaxed.owl
MONDO:0005084	biolink:NamedThing	mental disorder	A disease that has its basis in the disruption of mental process.	DOVES_relaxed.owl
MONDO:0005099	biolink:NamedThing	subarachnoid hemorrhage	Intracranial hemorrhage into the subarachnoid space.	DOVES_relaxed.owl
MONDO:0005262	biolink:NamedThing	central nervous system cyst	A congenital or acquired cyst that is present in the central nervous system.	DOVES_relaxed.owl
MONDO:0005277	biolink:NamedThing	migraine disorder	A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity.	DOVES_relaxed.owl
MONDO:0005301	biolink:NamedThing	multiple sclerosis	A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers.	DOVES_relaxed.owl
MONDO:0005429	biolink:NamedThing	prion disease	A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal.	DOVES_relaxed.owl
MONDO:0005493	biolink:NamedThing	carbon monoxide-induced delayed encephalopathy	Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event	DOVES_relaxed.owl
MONDO:0005625	biolink:NamedThing	cerebral malaria	A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures.	DOVES_relaxed.owl
MONDO:0005640	biolink:NamedThing	akinetic mutism	A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)	DOVES_relaxed.owl
MONDO:0005942	biolink:NamedThing	Reye syndrome	An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use.	DOVES_relaxed.owl
MONDO:0006684	biolink:NamedThing	brain edema	Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)	DOVES_relaxed.owl
MONDO:0006741	biolink:NamedThing	encephalomalacia	Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation.	DOVES_relaxed.owl
MONDO:0006796	biolink:NamedThing	hypertensive encephalopathy	Encephalopathy resulting from hypertension.	DOVES_relaxed.owl
MONDO:0006810	biolink:NamedThing	intracranial hypertension	A finding characterized by increased cerebrospinal fluid pressure within the skull.	DOVES_relaxed.owl
MONDO:0006811	biolink:NamedThing	intracranial hypotension	Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)	DOVES_relaxed.owl
MONDO:0007020	biolink:NamedThing	Wernicke encephalopathy	An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)	DOVES_relaxed.owl
MONDO:0007539	biolink:NamedThing	encephalopathy, recurrent, of childhood		DOVES_relaxed.owl
MONDO:0008890	biolink:NamedThing	progressive bulbar palsy	Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.	DOVES_relaxed.owl
MONDO:0011057	biolink:NamedThing	cerebrovascular disorder	A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.	DOVES_relaxed.owl
MONDO:0011612	biolink:NamedThing	glycine encephalopathy	Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.	DOVES_relaxed.owl
MONDO:0013600	biolink:NamedThing	insomnia	A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep.	DOVES_relaxed.owl
MONDO:0015141	biolink:NamedThing	disorder of medulla oblongata	A disease that involves the medulla oblongata.	DOVES_relaxed.owl
MONDO:0015144	biolink:NamedThing	brain inflammatory disease	An inflammatory disease involving a pathogenic inflammatory response in the brain.	DOVES_relaxed.owl
MONDO:0016158	biolink:NamedThing	narcolepsy-cataplexy syndrome	Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).	DOVES_relaxed.owl
MONDO:0017079	biolink:NamedThing	meningoencephalocele	A congenital abnormality in which the meninges protrude through a defect in the cranium.	DOVES_relaxed.owl
MONDO:0018477	biolink:NamedThing	bilirubin encephalopathy		DOVES_relaxed.owl
MONDO:0018489	biolink:NamedThing	autoimmune encephalopathy with parasomnia and obstructive sleep apnea	Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.	DOVES_relaxed.owl
MONDO:0019213	biolink:NamedThing	cerebral organic aciduria	A inherited organic acidemia that involves the brain.	DOVES_relaxed.owl
MONDO:0019371	biolink:NamedThing	narcolepsy without cataplexy	Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.	DOVES_relaxed.owl
MONDO:0020143	biolink:NamedThing	cerebral lipidosis with dementia		DOVES_relaxed.owl
MONDO:0021211	biolink:NamedThing	brain neoplasm	A neoplasm (disease) that involves the brain.	DOVES_relaxed.owl
MONDO:0022236	biolink:NamedThing	colpocephaly	Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.	DOVES_relaxed.owl
MONDO:0022871	biolink:NamedThing	corpus callosum agenesis of blepharophimosis robin type		DOVES_relaxed.owl
MONDO:0022872	biolink:NamedThing	corpus callosum dysgenesis X-linked recessive		DOVES_relaxed.owl
MONDO:0022873	biolink:NamedThing	corpus callosum dysgenesis cleft spasm		DOVES_relaxed.owl
MONDO:0022874	biolink:NamedThing	corpus callosum dysgenesis hypopituitarism		DOVES_relaxed.owl
MONDO:0024238	biolink:NamedThing	cerebral degeneration	A neurodegenerative disease that involves the telencephalon.	DOVES_relaxed.owl
MONDO:0035344	biolink:NamedThing	acute bilirubin encephalopathy	A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.	DOVES_relaxed.owl
MONDO:0035345	biolink:NamedThing	chronic bilirubin encephalopathy	A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.	DOVES_relaxed.owl
MONDO:0043510	biolink:NamedThing	brain injury	Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits.	DOVES_relaxed.owl
MONDO:0043512	biolink:NamedThing	traumatic encephalopathy	Encephalopathy resulting from trauma.	DOVES_relaxed.owl
MONDO:0043537	biolink:NamedThing	cluster headache syndrome	A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms.	DOVES_relaxed.owl
MONDO:0044996	biolink:NamedThing	cerebral cortex disorder	A disease or disorder that involves the cerebral cortex.	DOVES_relaxed.owl
MONDO:0044997	biolink:NamedThing	midbrain disorder	A disease or disorder that involves the midbrain.	DOVES_relaxed.owl
MONDO:0100478	biolink:NamedThing	brain malformations with or without urinary tract defects	A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.	DOVES_relaxed.owl
MONDO:0000138	biolink:NamedThing	metaphyseal chondrodysplasia		DOVES_relaxed.owl
MONDO:0009943	biolink:NamedThing	Pyle disease	A bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.	DOVES_relaxed.owl
MONDO:0008971	biolink:NamedThing	chondrodysplasia calcificans Metaphysealis		DOVES_relaxed.owl
MONDO:0000141	biolink:NamedThing	mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.	DOVES_relaxed.owl
MONDO:0005508	biolink:NamedThing	hereditary multiple osteochondromas	A bone neoplasm characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.	DOVES_relaxed.owl
MONDO:0007187	biolink:NamedThing	nevoid basal cell carcinoma syndrome	A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.	DOVES_relaxed.owl
MONDO:0007315	biolink:NamedThing	cherubism	Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.	DOVES_relaxed.owl
MONDO:0007566	biolink:NamedThing	multiple self-healing squamous epithelioma	Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.	DOVES_relaxed.owl
MONDO:0007681	biolink:NamedThing	goiter, multinodular 1, with or without Sertoli-Leydig cell tumors	Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene.	DOVES_relaxed.owl
MONDO:0007967	biolink:NamedThing	melanoma and neural system tumor syndrome	Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma).	DOVES_relaxed.owl
MONDO:0008145	biolink:NamedThing	Ollier disease	A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.	DOVES_relaxed.owl
MONDO:0010159	biolink:NamedThing	mismatch repair cancer syndrome 1	A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.	DOVES_relaxed.owl
MONDO:0010518	biolink:NamedThing	Wiskott-Aldrich syndrome	Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.	DOVES_relaxed.owl
MONDO:0010686	biolink:NamedThing	N syndrome	N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.	DOVES_relaxed.owl
MONDO:0011071	biolink:NamedThing	hereditary thrombocytopenia and hematologic cancer predisposition syndrome	The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.	DOVES_relaxed.owl
MONDO:0011740	biolink:NamedThing	Carney-Stratakis syndrome	Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.	DOVES_relaxed.owl
MONDO:0012548	biolink:NamedThing	Kostmann syndrome	Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.	DOVES_relaxed.owl
MONDO:0013692	biolink:NamedThing	BAP1-related tumor predisposition syndrome	BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.	DOVES_relaxed.owl
MONDO:0013759	biolink:NamedThing	melanoma, cutaneous malignant, susceptibility to, 8	An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.	DOVES_relaxed.owl
MONDO:0013808	biolink:NamedThing	Maffucci syndrome	Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.	DOVES_relaxed.owl
MONDO:0014268	biolink:NamedThing	combined immunodeficiency due to OX40 deficiency	Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.	DOVES_relaxed.owl
MONDO:0014527	biolink:NamedThing	progeroid features-hepatocellular carcinoma predisposition syndrome		DOVES_relaxed.owl
MONDO:0014809	biolink:NamedThing	DDX41-related hematologic malignancy predisposition syndrome	Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene.	DOVES_relaxed.owl
MONDO:0015027	biolink:NamedThing	familial isolated hyperparathyroidism	A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.	DOVES_relaxed.owl
MONDO:0015517	biolink:NamedThing	common variable immunodeficiency	Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.	DOVES_relaxed.owl
MONDO:0015780	biolink:NamedThing	dyskeratosis congenita	Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.	DOVES_relaxed.owl
MONDO:0016473	biolink:NamedThing	familial rhabdoid tumor	A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.	DOVES_relaxed.owl
MONDO:0016537	biolink:NamedThing	lymphoproliferative syndrome	A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis).	DOVES_relaxed.owl
MONDO:0017169	biolink:NamedThing	multiple endocrine neoplasia	Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.	DOVES_relaxed.owl
MONDO:0017891	biolink:NamedThing	inherited renal cancer-predisposing syndrome		DOVES_relaxed.owl
MONDO:0018160	biolink:NamedThing	hereditary retinoblastoma	An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.	DOVES_relaxed.owl
MONDO:0018453	biolink:NamedThing	familial atypical multiple mole melanoma syndrome		DOVES_relaxed.owl
MONDO:0018538	biolink:NamedThing	inherited digestive cancer-predisposing syndrome		DOVES_relaxed.owl
MONDO:0018875	biolink:NamedThing	Li-Fraumeni syndrome	Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC).	DOVES_relaxed.owl
MONDO:0018893	biolink:NamedThing	Cobb syndrome	Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution.	DOVES_relaxed.owl
MONDO:0021061	biolink:NamedThing	neurofibromatosis	A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.	DOVES_relaxed.owl
MONDO:0035645	biolink:NamedThing	inherited gynecological cancer-predisposing syndrome		DOVES_relaxed.owl
MONDO:0800290	biolink:NamedThing	Li-fraumeni-like syndrome		DOVES_relaxed.owl
MONDO:0850064	biolink:NamedThing	inherited hematologic cancer-predisposing syndrome		DOVES_relaxed.owl
MONDO:0019040	biolink:NamedThing	chromosomal disorder	Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)	DOVES_relaxed.owl
MONDO:0000761	biolink:NamedThing	syndrome caused by partial chromosomal deletion	A chromosomal disorder consisting of the absence of a part of a chromosome.	DOVES_relaxed.owl
MONDO:0000762	biolink:NamedThing	syndrome caused by partial chromosomal duplication	A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome.	DOVES_relaxed.owl
MONDO:0019934	biolink:NamedThing	polyploidy	Chromosomal disorder in which the chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.	DOVES_relaxed.owl
MONDO:0020049	biolink:NamedThing	autosomal anomaly	Chromosomal disorder in which the chromosomal anomaly involves an autosome.	DOVES_relaxed.owl
MONDO:0020058	biolink:NamedThing	gonosome anomaly	Chromosomal disorder in which the chromosomal anomaly involves an gonosome. A gonosome is a chromosome responsible for sex determination. In humans and most animals, the sex chromosomes are designated X and Y.	DOVES_relaxed.owl
MONDO:0023099	biolink:NamedThing	FRAXD syndrome		DOVES_relaxed.owl
MONDO:0043678	biolink:NamedThing	chromosome inversion disorder	Chromosomal disorder consisting of the presence a chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome.	DOVES_relaxed.owl
MONDO:0700064	biolink:NamedThing	aneuploidy	Chromosomal disorder consisting of the presence a chromosomal abnormality in which there is an addition or loss of chromosomes within a set.	DOVES_relaxed.owl
MONDO:0700086	biolink:NamedThing	uniparental disomy	A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders.	DOVES_relaxed.owl
MONDO:0700091	biolink:NamedThing	ring chromosome disorder	Chromosomal disorder in which the chromosomal anomaly consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome.	DOVES_relaxed.owl
MONDO:0000147	biolink:NamedThing	polyposis		DOVES_relaxed.owl
MONDO:0021075	biolink:NamedThing	neoplastic polyp		DOVES_relaxed.owl
MONDO:0002771	biolink:NamedThing	pulmonary fibrosis	Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause).	DOVES_relaxed.owl
MONDO:0001438	biolink:NamedThing	postinflammatory pulmonary fibrosis		DOVES_relaxed.owl
MONDO:0003563	biolink:NamedThing	diffuse pulmonary fibrosis	Diffuse replacement of the lung tissue by connective tissue.	DOVES_relaxed.owl
MONDO:0003564	biolink:NamedThing	localized pulmonary fibrosis	Replacement of the lung tissue by connective tissue in a specific area of the lung.	DOVES_relaxed.owl
MONDO:0021953	biolink:NamedThing	tuberculous fibrosis of lung	Scarring of the lung parenchyma caused by pulmonary tuberculosis.	DOVES_relaxed.owl
MONDO:0023286	biolink:NamedThing	graphite pneumoconiosis		DOVES_relaxed.owl
MONDO:0003225	biolink:NamedThing	bone marrow disorder	Any disease of the bone marrow.	DOVES_relaxed.owl
MONDO:0005246	biolink:NamedThing	osteomyelitis	An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria.	DOVES_relaxed.owl
MONDO:0005374	biolink:NamedThing	bone marrow neoplasm	Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow).	DOVES_relaxed.owl
MONDO:0005571	biolink:NamedThing	polycythemia	Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume.	DOVES_relaxed.owl
MONDO:0023007	biolink:NamedThing	Drachtman Weinblatt Sitarz syndrome	A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus.	DOVES_relaxed.owl
MONDO:0044903	biolink:NamedThing	myelofibrosis	A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003	DOVES_relaxed.owl
MONDO:0054862	biolink:NamedThing	premature ovarian failure 15		DOVES_relaxed.owl
MONDO:0000151	biolink:NamedThing	symphalangism		DOVES_relaxed.owl
MONDO:0005172	biolink:NamedThing	skeletal system disorder	A disease involving the skeletal system.	DOVES_relaxed.owl
MONDO:0000812	biolink:NamedThing	vertebral column disorder	A disease involving the vertebral column.	DOVES_relaxed.owl
MONDO:0001042	biolink:NamedThing	patellar tendinitis	A tendinitis that involves the patella.	DOVES_relaxed.owl
MONDO:0001365	biolink:NamedThing	necrosis of ear ossicle		DOVES_relaxed.owl
MONDO:0001910	biolink:NamedThing	ochronosis disorder	A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis.	DOVES_relaxed.owl
MONDO:0002360	biolink:NamedThing	chondroma	A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes.	DOVES_relaxed.owl
MONDO:0005293	biolink:NamedThing	flatfoot	An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground.	DOVES_relaxed.owl
MONDO:0005319	biolink:NamedThing	humerus fracture	A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken.	DOVES_relaxed.owl
MONDO:0005320	biolink:NamedThing	tibia fracture	Traumatic or pathological injury to the tibia in which the continuity of the bone is broken.	DOVES_relaxed.owl
MONDO:0005322	biolink:NamedThing	ulna fracture	Fractures of the larger bone of the forearm.	DOVES_relaxed.owl
MONDO:0005327	biolink:NamedThing	hip fracture	Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side.	DOVES_relaxed.owl
MONDO:0005381	biolink:NamedThing	bone disorder	Diseases of bones.	DOVES_relaxed.owl
MONDO:0005962	biolink:NamedThing	skeletal tuberculosis	Tuberculosis of the bones or joints.	DOVES_relaxed.owl
MONDO:0006816	biolink:NamedThing	arthropathy	Any disorder of the joints.	DOVES_relaxed.owl
MONDO:0006999	biolink:NamedThing	tooth disorder	A disease involving the calcareous tooth.	DOVES_relaxed.owl
MONDO:0011230	biolink:NamedThing	ossification of the posterior longitudinal ligament of the spine	A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms.	DOVES_relaxed.owl
MONDO:0012544	biolink:NamedThing	brachydactyly-syndactyly syndrome	Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.	DOVES_relaxed.owl
MONDO:0021578	biolink:NamedThing	sternal neoplasm	A benign or malignant neoplasm that affects the sternum.	DOVES_relaxed.owl
MONDO:0045004	biolink:NamedThing	skeletal ligament disorder	A disease or disorder that involves the skeletal ligament.	DOVES_relaxed.owl
MONDO:0800344	biolink:NamedThing	brachydactyly-syndactyly-oligodactyly syndrome		DOVES_relaxed.owl
MONDO:0000152	biolink:NamedThing	thiamine-responsive dysfunction syndrome		DOVES_relaxed.owl
MONDO:0017578	biolink:NamedThing	disorder of thiamine metabolism and transport		DOVES_relaxed.owl
MONDO:0016981	biolink:NamedThing	infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome		DOVES_relaxed.owl
MONDO:0000153	biolink:NamedThing	transposition of the great arteries	A congenital cardiac defect in which two heart vessels are reversed (transposed).	DOVES_relaxed.owl
MONDO:0020285	biolink:NamedThing	transposition of the great arteries and conotruncal cardiac anomaly		DOVES_relaxed.owl
MONDO:0016581	biolink:NamedThing	conotruncal heart malformations	Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).	DOVES_relaxed.owl
MONDO:0020286	biolink:NamedThing	aortic malformation		DOVES_relaxed.owl
MONDO:0020287	biolink:NamedThing	pulmonary artery or pulmonary branch anomaly		DOVES_relaxed.owl
MONDO:0000155	biolink:NamedThing	triglyceride storage disease	An inherited metabolic disease that is has its basis in the disruption of sequestering of triglyceride.	DOVES_relaxed.owl
MONDO:0019245	biolink:NamedThing	lysosomal lipid storage disorder	An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.	DOVES_relaxed.owl
MONDO:0002615	biolink:NamedThing	xanthomatosis	A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.	DOVES_relaxed.owl
MONDO:0010204	biolink:NamedThing	lysosomal acid lipase deficiency	Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.	DOVES_relaxed.owl
MONDO:0015611	biolink:NamedThing	neutral lipid storage disease	Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.	DOVES_relaxed.owl
MONDO:0016295	biolink:NamedThing	neuronal ceroid lipofuscinosis	A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.	DOVES_relaxed.owl
MONDO:0019255	biolink:NamedThing	sphingolipidosis	An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.	DOVES_relaxed.owl
MONDO:0000156	biolink:NamedThing	trigonocephaly		DOVES_relaxed.owl
MONDO:0018234	biolink:NamedThing	dysostosis	A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones.	DOVES_relaxed.owl
MONDO:0001411	biolink:NamedThing	synostosis	A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.	DOVES_relaxed.owl
MONDO:0009524	biolink:NamedThing	intellectual disability-spasticity-ectrodactyly syndrome	Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).	DOVES_relaxed.owl
MONDO:0010882	biolink:NamedThing	aphalangy-syndactyly-microcephaly syndrome	Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.	DOVES_relaxed.owl
MONDO:0010981	biolink:NamedThing	absent tibia-polydactyly-arachnoid cyst syndrome	Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.	DOVES_relaxed.owl
MONDO:0017423	biolink:NamedThing	split hand or/and split foot malformation		DOVES_relaxed.owl
MONDO:0017568	biolink:NamedThing	Prata-Liberal-Goncalves syndrome	Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.	DOVES_relaxed.owl
MONDO:0018034	biolink:NamedThing	thalidomide embryopathy	A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.	DOVES_relaxed.owl
MONDO:0044649	biolink:NamedThing	omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome		DOVES_relaxed.owl
MONDO:0005516	biolink:NamedThing	osteochondrodysplasia	A term referring to disorders characterized by abnormalities in the development of bones and cartilage.	DOVES_relaxed.owl
MONDO:0008520	biolink:NamedThing	brachydactyly-elbow wrist dysplasia syndrome	Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.	DOVES_relaxed.owl
MONDO:0010094	biolink:NamedThing	spondylocarpotarsal synostosis syndrome	Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.	DOVES_relaxed.owl
MONDO:0019029	biolink:NamedThing	segmental odontomaxillary dysplasia	Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.	DOVES_relaxed.owl
MONDO:0019407	biolink:NamedThing	microcephalic osteodysplastic dysplasia, Saul-Wilson type	A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.	DOVES_relaxed.owl
MONDO:0000160	biolink:NamedThing	epilepsy, familial adult myoclonic		DOVES_relaxed.owl
MONDO:0016022	biolink:NamedThing	early myoclonic encephalopathy	Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.	DOVES_relaxed.owl
MONDO:0008041	biolink:NamedThing	myoclonic epilepsy, Hartung type		DOVES_relaxed.owl
MONDO:0010682	biolink:NamedThing	myoclonic epilepsy, progressive, X-linked		DOVES_relaxed.owl
MONDO:0011506	biolink:NamedThing	familial infantile myoclonic epilepsy		DOVES_relaxed.owl
MONDO:0012245	biolink:NamedThing	developmental and epileptic encephalopathy, 3	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.	DOVES_relaxed.owl
MONDO:0014595	biolink:NamedThing	developmental and epileptic encephalopathy, 30	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene.	DOVES_relaxed.owl
MONDO:0014916	biolink:NamedThing	developmental and epileptic encephalopathy, 41	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene.	DOVES_relaxed.owl
MONDO:0020683	biolink:NamedThing	acute disease	Disease having a short and relatively severe course.	DOVES_relaxed.owl
MONDO:0000222	biolink:NamedThing	seminal vesicle acute gonorrhea	Acute form of gonococcal seminal vesiculitis.	DOVES_relaxed.owl
MONDO:0000257	biolink:NamedThing	acute diarrhea	Acute form of diarrhea.	DOVES_relaxed.owl
MONDO:0000943	biolink:NamedThing	acute hydrops keratoconus		DOVES_relaxed.owl
MONDO:0001028	biolink:NamedThing	acute pericementitis	An acute inflammatory process that affects the tissues that surround and support the teeth.	DOVES_relaxed.owl
MONDO:0001031	biolink:NamedThing	purulent acute otitis media	Acute form of suppurative otitis media.	DOVES_relaxed.owl
MONDO:0001051	biolink:NamedThing	acute otitis externa	Acute form of otitis externa.	DOVES_relaxed.owl
MONDO:0001064	biolink:NamedThing	acute eustachian salpingitis	Acute form of otosalpingitis.	DOVES_relaxed.owl
MONDO:0001081	biolink:NamedThing	acute cervicitis	Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation.	DOVES_relaxed.owl
MONDO:0001125	biolink:NamedThing	acute gonococcal epididymo-orchitis	Acute form of gonococcal epididymo-orchitis.	DOVES_relaxed.owl
MONDO:0001173	biolink:NamedThing	acute salpingitis	Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.	DOVES_relaxed.owl
MONDO:0001208	biolink:NamedThing	acute respiratory failure	Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock.	DOVES_relaxed.owl
MONDO:0001214	biolink:NamedThing	acute conjunctivitis	Acute inflammation of the conjunctiva.	DOVES_relaxed.owl
MONDO:0001218	biolink:NamedThing	acute laryngopharyngitis	An upper respiratory tract disease which involves inflammation of both larynx and pharynx.	DOVES_relaxed.owl
MONDO:0001230	biolink:NamedThing	acute orbital inflammation		DOVES_relaxed.owl
MONDO:0001610	biolink:NamedThing	acute dacryocystitis	Acute form of dacryocystitis.	DOVES_relaxed.owl
MONDO:0001624	biolink:NamedThing	acute sphenoidal sinusitis	Acute form of sphenoid sinusitis.	DOVES_relaxed.owl
MONDO:0001644	biolink:NamedThing	acute proliferative glomerulonephritis	Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus.	DOVES_relaxed.owl
MONDO:0001650	biolink:NamedThing	acute cystitis	An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain.	DOVES_relaxed.owl
MONDO:0001802	biolink:NamedThing	acute tympanitis		DOVES_relaxed.owl
MONDO:0001817	biolink:NamedThing	acute closed-angle glaucoma	Acute form of angle-closure glaucoma.	DOVES_relaxed.owl
MONDO:0001838	biolink:NamedThing	acute gonococcal prostatitis	Acute form of gonococcal prostatitis.	DOVES_relaxed.owl
MONDO:0001870	biolink:NamedThing	acute poststreptococcal glomerulonephritis	Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female.	DOVES_relaxed.owl
MONDO:0001871	biolink:NamedThing	acute diffuse glomerulonephritis	An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure.	DOVES_relaxed.owl
MONDO:0001895	biolink:NamedThing	acute retrobulbar neuritis	Acute form of retrobulbar neuritis.	DOVES_relaxed.owl
MONDO:0001912	biolink:NamedThing	acute frontal sinusitis	Acute form of frontal sinusitis.	DOVES_relaxed.owl
MONDO:0001930	biolink:NamedThing	acute cholangitis	Cholangitis that is both sudden in onset and of a relatively short duration.	DOVES_relaxed.owl
MONDO:0001949	biolink:NamedThing	acute thyroiditis	Acute form of thyroiditis (disease).	DOVES_relaxed.owl
MONDO:0002186	biolink:NamedThing	acute maxillary sinusitis	Acute form of maxillary sinusitis.	DOVES_relaxed.owl
MONDO:0002492	biolink:NamedThing	acute kidney failure	Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria.	DOVES_relaxed.owl
MONDO:0002738	biolink:NamedThing	acute transudative otitis media	Acute form of non-suppurative otitis media.	DOVES_relaxed.owl
MONDO:0002815	biolink:NamedThing	acute myocarditis	The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness.	DOVES_relaxed.owl
MONDO:0003138	biolink:NamedThing	subacute glomerulonephritis	A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis.	DOVES_relaxed.owl
MONDO:0003529	biolink:NamedThing	acute pyelonephritis	Sudden onset pyelonephritis.	DOVES_relaxed.owl
MONDO:0003652	biolink:NamedThing	acute urate nephropathy	Urolithiasis in which the composition of the stones is predominantly urate.	DOVES_relaxed.owl
MONDO:0003763	biolink:NamedThing	acute stress disorder	An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month.	DOVES_relaxed.owl
MONDO:0004055	biolink:NamedThing	acute inflammation of lacrimal passage		DOVES_relaxed.owl
MONDO:0004265	biolink:NamedThing	acute endometritis	An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge.	DOVES_relaxed.owl
MONDO:0004598	biolink:NamedThing	acute cor pulmonale	A form of acute right heart failure produced by a sudden increase in resistance to blood flow in the pulmonary circulation.	DOVES_relaxed.owl
MONDO:0004613	biolink:NamedThing	acute intestinal ischemia	Ischemia of the intestine that is rapid in onset.	DOVES_relaxed.owl
MONDO:0004629	biolink:NamedThing	subacute delirium		DOVES_relaxed.owl
MONDO:0004777	biolink:NamedThing	acute laryngitis	An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.	DOVES_relaxed.owl
MONDO:0004781	biolink:NamedThing	acute myocardial infarction	Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations.	DOVES_relaxed.owl
MONDO:0004810	biolink:NamedThing	acute ethmoiditis	Acute form of ethmoid sinusitis.	DOVES_relaxed.owl
MONDO:0004812	biolink:NamedThing	acute dacryoadenitis	Acute form of dacryoadenitis.	DOVES_relaxed.owl
MONDO:0004940	biolink:NamedThing	acute female pelvic peritonitis		DOVES_relaxed.owl
MONDO:0004969	biolink:NamedThing	acute quadriplegic myopathy	Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM.	DOVES_relaxed.owl
MONDO:0005091	biolink:NamedThing	severe acute respiratory syndrome	A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death.	DOVES_relaxed.owl
MONDO:0005174	biolink:NamedThing	acute hypotension	Acute form of hypotension (disease).	DOVES_relaxed.owl
MONDO:0005542	biolink:NamedThing	acute coronary syndrome	Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction.	DOVES_relaxed.owl
MONDO:0005632	biolink:NamedThing	acute chest syndrome	A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia.	DOVES_relaxed.owl
MONDO:0006515	biolink:NamedThing	acute pancreatitis	An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs.	DOVES_relaxed.owl
MONDO:0006638	biolink:NamedThing	acute retinal necrosis syndrome	Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome.	DOVES_relaxed.owl
MONDO:0006981	biolink:NamedThing	subacute bacterial endocarditis	Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between "acute" and "subacute" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation.	DOVES_relaxed.owl
MONDO:0008069	biolink:NamedThing	necrotizing encephalomyelopathy, subacute, of Leigh, adult		DOVES_relaxed.owl
MONDO:0008294	biolink:NamedThing	acute intermittent porphyria	Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.	DOVES_relaxed.owl
MONDO:0009929	biolink:NamedThing	neonatal acute respiratory distress due to SP-B deficiency		DOVES_relaxed.owl
MONDO:0009992	biolink:NamedThing	myoglobinuria, acute recurrent, autosomal recessive		DOVES_relaxed.owl
MONDO:0010643	biolink:NamedThing	acute leukemia	A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).	DOVES_relaxed.owl
MONDO:0013111	biolink:NamedThing	acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.	DOVES_relaxed.owl
MONDO:0015342	biolink:NamedThing	acute transverse myelitis	Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).	DOVES_relaxed.owl
MONDO:0015573	biolink:NamedThing	subacute cutaneous lupus erythematosus	Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced.	DOVES_relaxed.owl
MONDO:0015796	biolink:NamedThing	acute lung injury	A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological).	DOVES_relaxed.owl
MONDO:0016102	biolink:NamedThing	subacute inflammatory demyelinating polyneuropathy	A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP).	DOVES_relaxed.owl
MONDO:0016429	biolink:NamedThing	Marburg acute multiple sclerosis	Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.	DOVES_relaxed.owl
MONDO:0016498	biolink:NamedThing	acute pure sensory neuropathy		DOVES_relaxed.owl
MONDO:0016499	biolink:NamedThing	acute pandysautonomia	Acute pandysautonomia is a rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.	DOVES_relaxed.owl
MONDO:0016500	biolink:NamedThing	acute sensory ataxic neuropathy	Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.	DOVES_relaxed.owl
MONDO:0016573	biolink:NamedThing	acute fatty liver of pregnancy	Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.	DOVES_relaxed.owl
MONDO:0016600	biolink:NamedThing	acute neonatal citrullinemia type I	Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.	DOVES_relaxed.owl
MONDO:0017202	biolink:NamedThing	acute endophthalmitis	Acute form of endophthalmitis.	DOVES_relaxed.owl
MONDO:0017298	biolink:NamedThing	acute zonal occult outer retinopathy	Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy.	DOVES_relaxed.owl
MONDO:0017299	biolink:NamedThing	acute annular outer retinopathy		DOVES_relaxed.owl
MONDO:0017373	biolink:NamedThing	poliomyelitis	An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine.	DOVES_relaxed.owl
MONDO:0017384	biolink:NamedThing	acute generalized exanthematous pustulosis	A widespread acute rash characterized by fever and multiple small pustules on a reddish background.	DOVES_relaxed.owl
MONDO:0018173	biolink:NamedThing	acute opioid poisoning	Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.	DOVES_relaxed.owl
MONDO:0018198	biolink:NamedThing	acute encephalopathy with biphasic seizures and late reduced diffusion	Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.	DOVES_relaxed.owl
MONDO:0018547	biolink:NamedThing	acute tricyclic antidepressant poisoning	Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death.	DOVES_relaxed.owl
MONDO:0018548	biolink:NamedThing	acute poisoning by drugs with membrane-stabilizing effect	Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine.	DOVES_relaxed.owl
MONDO:0018989	biolink:NamedThing	recurrent acute pancreatitis	Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems.	DOVES_relaxed.owl
MONDO:0019074	biolink:NamedThing	bilateral acute depigmentation of the iris	Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.	DOVES_relaxed.owl
MONDO:0019122	biolink:NamedThing	idiopathic acute eosinophilic pneumonia	Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection.	DOVES_relaxed.owl
MONDO:0019140	biolink:NamedThing	acute ackee fruit intoxication	Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils.	DOVES_relaxed.owl
MONDO:0019203	biolink:NamedThing	acute interstitial pneumonia	Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia.	DOVES_relaxed.owl
MONDO:0019542	biolink:NamedThing	acute liver failure	Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections.	DOVES_relaxed.owl
MONDO:0019801	biolink:NamedThing	acute adrenal insufficiency	Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.	DOVES_relaxed.owl
MONDO:0019956	biolink:NamedThing	encephalitis	An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes.	DOVES_relaxed.owl
MONDO:0020347	biolink:NamedThing	acute inflammatory demyelinating polyradiculoneuropathy	An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS).	DOVES_relaxed.owl
MONDO:0020348	biolink:NamedThing	acute motor and sensory axonal neuropathy	Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-BarrC) syndrome (GBS).	DOVES_relaxed.owl
MONDO:0020349	biolink:NamedThing	acute motor axonal neuropathy	Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-BarrC) syndrome (GBS).	DOVES_relaxed.owl
MONDO:0020546	biolink:NamedThing	acute graft versus host disease	A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation.	DOVES_relaxed.owl
MONDO:0020600	biolink:NamedThing	acute pharyngitis	An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache.	DOVES_relaxed.owl
MONDO:0020677	biolink:NamedThing	sudden hearing loss disorder		DOVES_relaxed.owl
MONDO:0020680	biolink:NamedThing	acute bronchiolitis	Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus.	DOVES_relaxed.owl
MONDO:0020686	biolink:NamedThing	acute tonsillitis	An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes.	DOVES_relaxed.owl
MONDO:0021777	biolink:NamedThing	acute rheumatic heart disease	Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci).	DOVES_relaxed.owl
MONDO:0021808	biolink:NamedThing	acute cholinergic dysautonomia	A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset.	DOVES_relaxed.owl
MONDO:0021811	biolink:NamedThing	acute mountain sickness	Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances.	DOVES_relaxed.owl
MONDO:0022380	biolink:NamedThing	acute lymphoblastic leukemia congenital sporadic aniridia	A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia.	DOVES_relaxed.owl
MONDO:0024250	biolink:NamedThing	acute lichenoid pityriasis		DOVES_relaxed.owl
MONDO:0033938	biolink:NamedThing	acute radiation syndrome		DOVES_relaxed.owl
MONDO:0035444	biolink:NamedThing	acute mast cell leukemia	A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.	DOVES_relaxed.owl
MONDO:0040698	biolink:NamedThing	subacute bursitis		DOVES_relaxed.owl
MONDO:0041295	biolink:NamedThing	acute papillary necrosis	Acute form of kidney papillary necrosis.	DOVES_relaxed.owl
MONDO:0043079	biolink:NamedThing	acute articular rheumatism		DOVES_relaxed.owl
MONDO:0043089	biolink:NamedThing	acute posterior multifocal placoid pigment epitheliopathy	Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications.	DOVES_relaxed.owl
MONDO:0044213	biolink:NamedThing	acute idiopathic urticaria	Acute form of idiopathic urticaria.	DOVES_relaxed.owl
MONDO:0044627	biolink:NamedThing	acute macular neuroretinopathy		DOVES_relaxed.owl
MONDO:0100115	biolink:NamedThing	acute flaccid myelitis	An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause.	DOVES_relaxed.owl
MONDO:0100370	biolink:NamedThing	acute hepatitis B virus infection	A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk.	DOVES_relaxed.owl
MONDO:0100371	biolink:NamedThing	acute hepatitis C virus infection	A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics.	DOVES_relaxed.owl
MONDO:0500018	biolink:NamedThing	acute fibrinous and organizing pneumonia	A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra.	DOVES_relaxed.owl
MONDO:0021669	biolink:NamedThing	post-infectious disorder	A disorder that follows infection but is distinct from the infection itself and its usual manifestations.	DOVES_relaxed.owl
MONDO:0001771	biolink:NamedThing	infective urethral stricture		DOVES_relaxed.owl
MONDO:0002812	biolink:NamedThing	infectious otitis interna	Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology.	DOVES_relaxed.owl
MONDO:0004795	biolink:NamedThing	otitis externa	Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain.	DOVES_relaxed.owl
MONDO:0005491	biolink:NamedThing	Chagas cardiomyopathy	A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly.	DOVES_relaxed.owl
MONDO:0018837	biolink:NamedThing	postinfectious vasculitis	Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.	DOVES_relaxed.owl
MONDO:0020068	biolink:NamedThing	postinfectious encephalitis		DOVES_relaxed.owl
MONDO:0021670	biolink:NamedThing	post-infectious syndrome		DOVES_relaxed.owl
MONDO:0021673	biolink:NamedThing	post-bacterial disorder		DOVES_relaxed.owl
MONDO:0021674	biolink:NamedThing	post-viral disorder	A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations.	DOVES_relaxed.owl
MONDO:0034103	biolink:NamedThing	infection-related hemolytic uremic syndrome		DOVES_relaxed.owl
MONDO:0000167	biolink:NamedThing	Huntington disease and related disorders	A grouping for Huntington disease and similar diseases.	DOVES_relaxed.owl
MONDO:0001383	biolink:NamedThing	degenerative myopia	Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness.	DOVES_relaxed.owl
MONDO:0001734	biolink:NamedThing	tuberous sclerosis	Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.	DOVES_relaxed.owl
MONDO:0003122	biolink:NamedThing	striatonigral degeneration	A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements.	DOVES_relaxed.owl
MONDO:0004882	biolink:NamedThing	angioid streaks of choroid	A angioid streaks that involves the optic choroid.	DOVES_relaxed.owl
MONDO:0008023	biolink:NamedThing	muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome	This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus.	DOVES_relaxed.owl
MONDO:0008935	biolink:NamedThing	cerebellar ataxia-hypogonadism syndrome	Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome.	DOVES_relaxed.owl
MONDO:0008945	biolink:NamedThing	myoclonic cerebellar dyssynergia	A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)	DOVES_relaxed.owl
MONDO:0009585	biolink:NamedThing	encephalopathy due to beta-mercaptolactate-cysteine disulfiduria		DOVES_relaxed.owl
MONDO:0009841	biolink:NamedThing	PEHO syndrome	PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.	DOVES_relaxed.owl
MONDO:0010578	biolink:NamedThing	deafness dystonia syndrome	An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.	DOVES_relaxed.owl
MONDO:0011327	biolink:NamedThing	neuronal intranuclear inclusion disease	Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.	DOVES_relaxed.owl
MONDO:0011457	biolink:NamedThing	ataxia-telangiectasia-like disorder	An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.	DOVES_relaxed.owl
MONDO:0011557	biolink:NamedThing	radiation sensitivity/chromosome instability syndrome, autosomal dominant		DOVES_relaxed.owl
MONDO:0012638	biolink:NamedThing	microphthalmia-brain atrophy syndrome	Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.	DOVES_relaxed.owl
MONDO:0013110	biolink:NamedThing	neurodegenerative syndrome due to cerebral folate transport deficiency		DOVES_relaxed.owl
MONDO:0013584	biolink:NamedThing	hereditary sensory neuropathy-deafness-dementia syndrome	A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.	DOVES_relaxed.owl
MONDO:0013802	biolink:NamedThing	infantile cerebellar-retinal degeneration	Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms.	DOVES_relaxed.owl
MONDO:0014402	biolink:NamedThing	severe neurodegenerative syndrome with lipodystrophy		DOVES_relaxed.owl
MONDO:0014719	biolink:NamedThing	developmental and epileptic encephalopathy, 35		DOVES_relaxed.owl
MONDO:0014960	biolink:NamedThing	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy		DOVES_relaxed.owl
MONDO:0015003	biolink:NamedThing	dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		DOVES_relaxed.owl
MONDO:0015140	biolink:NamedThing	early-onset autosomal dominant Alzheimer disease	A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.	DOVES_relaxed.owl
MONDO:0017161	biolink:NamedThing	frontotemporal dementia with motor neuron disease	Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset.	DOVES_relaxed.owl
MONDO:0017234	biolink:NamedThing	inherited prion disease	An instance of prion disease that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0017276	biolink:NamedThing	frontotemporal dementia	Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.	DOVES_relaxed.owl
MONDO:0017720	biolink:NamedThing	GM2 gangliosidosis	A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.	DOVES_relaxed.owl
MONDO:0018307	biolink:NamedThing	neurodegeneration with brain iron accumulation	Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.	DOVES_relaxed.owl
MONDO:0018316	biolink:NamedThing	fatal post-viral neurodegenerative disorder		DOVES_relaxed.owl
MONDO:0018475	biolink:NamedThing	PRKAR1B-related neurodegenerative dementia with intermediate filaments		DOVES_relaxed.owl
MONDO:0018591	biolink:NamedThing	ITM2B amyloidosis		DOVES_relaxed.owl
MONDO:0018656	biolink:NamedThing	tremor-ataxia-central hypomyelination syndrome		DOVES_relaxed.owl
MONDO:0018696	biolink:NamedThing	corticobasal syndrome	Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.	DOVES_relaxed.owl
MONDO:0018705	biolink:NamedThing	infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome		DOVES_relaxed.owl
MONDO:0018820	biolink:NamedThing	recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.	DOVES_relaxed.owl
MONDO:0018899	biolink:NamedThing	posterior cortical atrophy	Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.	DOVES_relaxed.owl
MONDO:0019046	biolink:NamedThing	leukodystrophy	Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.	DOVES_relaxed.owl
MONDO:0019064	biolink:NamedThing	hereditary spastic paraplegia	Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.	DOVES_relaxed.owl
MONDO:0019405	biolink:NamedThing	facial onset sensory and motor neuronopathy	Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.	DOVES_relaxed.owl
MONDO:0019427	biolink:NamedThing	X-linked neurodegenerative syndrome, Bertini type	X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.	DOVES_relaxed.owl
MONDO:0019429	biolink:NamedThing	X-linked neurodegenerative syndrome, Hamel type	An X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.	DOVES_relaxed.owl
MONDO:0020248	biolink:NamedThing	vitreoretinal degeneration		DOVES_relaxed.owl
MONDO:0020380	biolink:NamedThing	autosomal dominant cerebellar ataxia	A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.	DOVES_relaxed.owl
MONDO:0022025	biolink:NamedThing	boylan dew greco syndrome		DOVES_relaxed.owl
MONDO:0030923	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis		DOVES_relaxed.owl
MONDO:0043878	biolink:NamedThing	hereditary optic atrophy	A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.	DOVES_relaxed.owl
MONDO:0044726	biolink:NamedThing	psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome		DOVES_relaxed.owl
MONDO:0000169	biolink:NamedThing	microphthalmia, isolated, with cataract		DOVES_relaxed.owl
MONDO:0000170	biolink:NamedThing	microphthalmia, isolated, with coloboma	A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.	DOVES_relaxed.owl
MONDO:0005514	biolink:NamedThing	nanophthalmia	Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.	DOVES_relaxed.owl
MONDO:0009631	biolink:NamedThing	isolated microphthalmia 1	A microphthalmia that has material basis in variation in the chromosomal region 14q32.	DOVES_relaxed.owl
MONDO:0012409	biolink:NamedThing	isolated microphthalmia 2	Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene.	DOVES_relaxed.owl
MONDO:0012604	biolink:NamedThing	isolated microphthalmia 3	Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene.	DOVES_relaxed.owl
MONDO:0012605	biolink:NamedThing	isolated microphthalmia 5	Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.	DOVES_relaxed.owl
MONDO:0013130	biolink:NamedThing	isolated microphthalmia 4	Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene.	DOVES_relaxed.owl
MONDO:0013293	biolink:NamedThing	isolated microphthalmia 6	Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene.	DOVES_relaxed.owl
MONDO:0013377	biolink:NamedThing	isolated microphthalmia 7	Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene.	DOVES_relaxed.owl
MONDO:0014050	biolink:NamedThing	isolated microphthalmia 8	Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene.	DOVES_relaxed.owl
MONDO:0001476	biolink:NamedThing	coloboma	An abnormality in which a part of a structure in one or both eyes is missing.	DOVES_relaxed.owl
MONDO:0007350	biolink:NamedThing	coloboma, ocular, autosomal dominant		DOVES_relaxed.owl
MONDO:0007351	biolink:NamedThing	coloboma of macula	Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.	DOVES_relaxed.owl
MONDO:0009002	biolink:NamedThing	coloboma, ocular, autosomal recessive		DOVES_relaxed.owl
MONDO:0020355	biolink:NamedThing	coloboma of eye lens		DOVES_relaxed.owl
MONDO:0020357	biolink:NamedThing	coloboma of eyelid	A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.	DOVES_relaxed.owl
MONDO:0021856	biolink:NamedThing	Alsing syndrome	An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion.	DOVES_relaxed.owl
MONDO:0022060	biolink:NamedThing	calloso-genital dysplasia		DOVES_relaxed.owl
MONDO:0016764	biolink:NamedThing	isolated anophthalmia-microphthalmia syndrome	Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit.	DOVES_relaxed.owl
MONDO:0007995	biolink:NamedThing	microphthalmia, isolated, with cataract 1		DOVES_relaxed.owl
MONDO:0000171	biolink:NamedThing	muscular dystrophy-dystroglycanopathy, type A		DOVES_relaxed.owl
MONDO:0000179	biolink:NamedThing	Neu-Laxova syndrome	Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0007906	biolink:NamedThing	familial partial lipodystrophy, Dunnigan type	Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.	DOVES_relaxed.owl
MONDO:0008272	biolink:NamedThing	polysyndactyly 4	Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.	DOVES_relaxed.owl
MONDO:0008725	biolink:NamedThing	congenital lipoid adrenal hyperplasia due to STAR deficency	Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.	DOVES_relaxed.owl
MONDO:0008727	biolink:NamedThing	congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.	DOVES_relaxed.owl
MONDO:0008728	biolink:NamedThing	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.	DOVES_relaxed.owl
MONDO:0008729	biolink:NamedThing	congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.	DOVES_relaxed.owl
MONDO:0008730	biolink:NamedThing	congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.	DOVES_relaxed.owl
MONDO:0008908	biolink:NamedThing	MGAT2-congenital disorder of glycosylation	MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).	DOVES_relaxed.owl
MONDO:0009053	biolink:NamedThing	ALDH18A1-related de Barsy syndrome	ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.	DOVES_relaxed.owl
MONDO:0009352	biolink:NamedThing	classic homocystinuria	Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.	DOVES_relaxed.owl
MONDO:0009480	biolink:NamedThing	Joubert syndrome with oculorenal defect	Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.	DOVES_relaxed.owl
MONDO:0009856	biolink:NamedThing	Peters plus syndrome	An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.	DOVES_relaxed.owl
MONDO:0009923	biolink:NamedThing	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.	DOVES_relaxed.owl
MONDO:0010026	biolink:NamedThing	SHORT syndrome	SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.	DOVES_relaxed.owl
MONDO:0010088	biolink:NamedThing	mucosulfatidosis	Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.	DOVES_relaxed.owl
MONDO:0010221	biolink:NamedThing	CHIME syndrome	CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.	DOVES_relaxed.owl
MONDO:0010466	biolink:NamedThing	multiple congenital anomalies-hypotonia-seizures syndrome 2	Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.	DOVES_relaxed.owl
MONDO:0010478	biolink:NamedThing	SLC35A2-congenital disorder of glycosylation	SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).	DOVES_relaxed.owl
MONDO:0010490	biolink:NamedThing	SSR4-congenital disorder of glycosylation	A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28).	DOVES_relaxed.owl
MONDO:0010572	biolink:NamedThing	occipital horn syndrome	Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.	DOVES_relaxed.owl
MONDO:0011142	biolink:NamedThing	Ehlers-Danlos syndrome, musculocontractural type	Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.	DOVES_relaxed.owl
MONDO:0011976	biolink:NamedThing	lipodystrophy-intellectual disability-deafness syndrome	Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.	DOVES_relaxed.owl
MONDO:0012104	biolink:NamedThing	acquired partial lipodystrophy	A lipodystrophy characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.	DOVES_relaxed.owl
MONDO:0012118	biolink:NamedThing	COG7-congenital disorder of glycosylation	COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.	DOVES_relaxed.owl
MONDO:0012192	biolink:NamedThing	permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.	DOVES_relaxed.owl
MONDO:0012783	biolink:NamedThing	RFT1-congenital disorder of glycosylation	RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).	DOVES_relaxed.owl
MONDO:0013118	biolink:NamedThing	Nijmegen breakage syndrome-like disorder	Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.	DOVES_relaxed.owl
MONDO:0013310	biolink:NamedThing	congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.	DOVES_relaxed.owl
MONDO:0013563	biolink:NamedThing	multiple congenital anomalies-hypotonia-seizures syndrome 1	Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.	DOVES_relaxed.owl
MONDO:0014201	biolink:NamedThing	developmental and epileptic encephalopathy, 18		DOVES_relaxed.owl
MONDO:0014248	biolink:NamedThing	autism spectrum disorder - epilepsy - arthrogryposis syndrome	SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).	DOVES_relaxed.owl
MONDO:0014371	biolink:NamedThing	developmental and epileptic encephalopathy, 23		DOVES_relaxed.owl
MONDO:0014399	biolink:NamedThing	ataxia-telangiectasia-like disorder 2		DOVES_relaxed.owl
MONDO:0014421	biolink:NamedThing	glucocorticoid resistance		DOVES_relaxed.owl
MONDO:0014706	biolink:NamedThing	cutis laxa, autosomal dominant 3	An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.	DOVES_relaxed.owl
MONDO:0014881	biolink:NamedThing	transketolase deficiency		DOVES_relaxed.owl
MONDO:0015012	biolink:NamedThing	mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		DOVES_relaxed.owl
MONDO:0016354	biolink:NamedThing	xeroderma pigmentosum-Cockayne syndrome complex	Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).	DOVES_relaxed.owl
MONDO:0016364	biolink:NamedThing	Joubert syndrome with ocular defect	Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.	DOVES_relaxed.owl
MONDO:0016366	biolink:NamedThing	maternal phenylketonuria	Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.	DOVES_relaxed.owl
MONDO:0016396	biolink:NamedThing	pontocerebellar hypoplasia type 1	Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.	DOVES_relaxed.owl
MONDO:0016584	biolink:NamedThing	mandibuloacral dysplasia	Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.	DOVES_relaxed.owl
MONDO:0017123	biolink:NamedThing	arthrogryposis-renal dysfunction-cholestasis syndrome	Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.	DOVES_relaxed.owl
MONDO:0018247	biolink:NamedThing	CADDS		DOVES_relaxed.owl
MONDO:0018273	biolink:NamedThing	XYLT1-congenital disorder of glycosylation		DOVES_relaxed.owl
MONDO:0018292	biolink:NamedThing	congenital disorder of glycosylation-related bone disorder		DOVES_relaxed.owl
MONDO:0018570	biolink:NamedThing	hypophosphatasia	Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).	DOVES_relaxed.owl
MONDO:0018939	biolink:NamedThing	muscle-eye-brain disease	A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.	DOVES_relaxed.owl
MONDO:0019010	biolink:NamedThing	congenital isolated hyperinsulinism	Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism.	DOVES_relaxed.owl
MONDO:0019154	biolink:NamedThing	androgen insensitivity syndrome	Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).	DOVES_relaxed.owl
MONDO:0019240	biolink:NamedThing	sterol biosynthesis disorder	An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.	DOVES_relaxed.owl
MONDO:0019248	biolink:NamedThing	mucolipidosis	A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.	DOVES_relaxed.owl
MONDO:0019249	biolink:NamedThing	mucopolysaccharidosis	A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.	DOVES_relaxed.owl
MONDO:0019251	biolink:NamedThing	oligosaccharidosis		DOVES_relaxed.owl
MONDO:0019358	biolink:NamedThing	encephalopathy due to sulfite oxidase deficiency	Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.	DOVES_relaxed.owl
MONDO:0019600	biolink:NamedThing	xeroderma pigmentosum	Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV).	DOVES_relaxed.owl
MONDO:0019609	biolink:NamedThing	Zellweger spectrum disorders	The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.	DOVES_relaxed.owl
MONDO:0019992	biolink:NamedThing	pseudohypoparathyroidism	Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).	DOVES_relaxed.owl
MONDO:0032808	biolink:NamedThing	developmental and epileptic encephalopathy, 77		DOVES_relaxed.owl
MONDO:0034106	biolink:NamedThing	developmental and epileptic encephalopathy, 73		DOVES_relaxed.owl
MONDO:0016156	biolink:NamedThing	qualitative or quantitative defects of FKRP		DOVES_relaxed.owl
MONDO:0011787	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2I	Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.	DOVES_relaxed.owl
MONDO:0016184	biolink:NamedThing	qualitative or quantitative defects of protein O-mannosyltransferase 1		DOVES_relaxed.owl
MONDO:0012248	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2K	Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.	DOVES_relaxed.owl
MONDO:0016185	biolink:NamedThing	qualitative or quantitative defects of protein O-mannosyltransferase 2		DOVES_relaxed.owl
MONDO:0013162	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2N	Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability.	DOVES_relaxed.owl
MONDO:0017745	biolink:NamedThing	disorder of O-mannosylglycan synthesis		DOVES_relaxed.owl
MONDO:0012699	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2M	A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.	DOVES_relaxed.owl
MONDO:0013161	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2O	Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.	DOVES_relaxed.owl
MONDO:0014142	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2T	Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.	DOVES_relaxed.owl
MONDO:0014474	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2U	Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.	DOVES_relaxed.owl
MONDO:0014489	biolink:NamedThing	limb-girdle muscular dystrophy due to POMK deficiency	Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.	DOVES_relaxed.owl
MONDO:0018277	biolink:NamedThing	congenital muscular dystrophy with cerebellar involvement		DOVES_relaxed.owl
MONDO:0018278	biolink:NamedThing	congenital muscular dystrophy with intellectual disability		DOVES_relaxed.owl
MONDO:0018279	biolink:NamedThing	congenital muscular dystrophy without intellectual disability		DOVES_relaxed.owl
MONDO:0018276	biolink:NamedThing	muscular dystrophy-dystroglycanopathy		DOVES_relaxed.owl
MONDO:0013049	biolink:NamedThing	DPM3-congenital disorder of glycosylation	DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.	DOVES_relaxed.owl
MONDO:0014023	biolink:NamedThing	congenital muscular dystrophy with intellectual disability and severe epilepsy		DOVES_relaxed.owl
MONDO:0018280	biolink:NamedThing	muscle-eye-brain disease with bilateral multicystic leucodystrophy	Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts.	DOVES_relaxed.owl
MONDO:0018869	biolink:NamedThing	cobblestone lissencephaly	Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.	DOVES_relaxed.owl
MONDO:0014077	biolink:NamedThing	cobblestone lissencephaly without muscular or ocular involvement	Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.	DOVES_relaxed.owl
MONDO:0010269	biolink:NamedThing	Coats disease	Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.	DOVES_relaxed.owl
MONDO:0010631	biolink:NamedThing	incontinentia pigmenti	Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).	DOVES_relaxed.owl
MONDO:0010691	biolink:NamedThing	Norrie disease	A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.	DOVES_relaxed.owl
MONDO:0011604	biolink:NamedThing	spondylo-ocular syndrome	Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.	DOVES_relaxed.owl
MONDO:0018068	biolink:NamedThing	trisomy 13	Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.	DOVES_relaxed.owl
MONDO:0019101	biolink:NamedThing	retinal capillary malformation	Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.	DOVES_relaxed.owl
MONDO:0019631	biolink:NamedThing	persistent hyperplastic primary vitreous	A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)	DOVES_relaxed.owl
MONDO:0700066	biolink:NamedThing	myopathy caused by variation in FKRP	Any myopathy in which the cause of the disease is a variation in the FKRP gene.	DOVES_relaxed.owl
MONDO:0011688	biolink:NamedThing	muscular dystrophy-dystroglycanopathy type B5	A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.	DOVES_relaxed.owl
MONDO:0700068	biolink:NamedThing	myopathy caused by variation in POMGNT1	Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene.	DOVES_relaxed.owl
MONDO:0013155	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3		DOVES_relaxed.owl
MONDO:0015148	biolink:NamedThing	lissencephaly type 3		DOVES_relaxed.owl
MONDO:0011004	biolink:NamedThing	lissencephaly type 3-metacarpal bone dysplasia syndrome	This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence.	DOVES_relaxed.owl
MONDO:0012703	biolink:NamedThing	lissencephaly due to TUBA1A mutation	Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.	DOVES_relaxed.owl
MONDO:0019449	biolink:NamedThing	lissencephaly type 3-familial fetal akinesia sequence syndrome	Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.	DOVES_relaxed.owl
MONDO:0015159	biolink:NamedThing	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		DOVES_relaxed.owl
MONDO:0007045	biolink:NamedThing	acrofacial dysostosis, Catania type	Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.	DOVES_relaxed.owl
MONDO:0007143	biolink:NamedThing	aortic arch anomaly-facial dysmorphism-intellectual disability syndrome	Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.	DOVES_relaxed.owl
MONDO:0007226	biolink:NamedThing	brachydactyly-nystagmus-cerebellar ataxia syndrome	Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.	DOVES_relaxed.owl
MONDO:0007259	biolink:NamedThing	craniofaciofrontodigital syndrome	Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).	DOVES_relaxed.owl
MONDO:0007355	biolink:NamedThing	uveal coloboma-cleft lip and palate-intellectual disability	Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0007382	biolink:NamedThing	Ramos-Arroyo syndrome	Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability.	DOVES_relaxed.owl
MONDO:0007588	biolink:NamedThing	extrasystoles-short stature-hyperpigmentation-microcephaly syndrome	Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.	DOVES_relaxed.owl
MONDO:0007621	biolink:NamedThing	Floating-Harbor syndrome	Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.	DOVES_relaxed.owl
MONDO:0007724	biolink:NamedThing	hirsutism-skeletal dysplasia-intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0007837	biolink:NamedThing	Johnson neuroectodermal syndrome	Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.	DOVES_relaxed.owl
MONDO:0007874	biolink:NamedThing	trichorhinophalangeal syndrome type II	Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.	DOVES_relaxed.owl
MONDO:0007892	biolink:NamedThing	Lenz-Majewski hyperostotic dwarfism	Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.	DOVES_relaxed.owl
MONDO:0007924	biolink:NamedThing	Bannayan-Riley-Ruvalcaba syndrome	Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.	DOVES_relaxed.owl
MONDO:0007991	biolink:NamedThing	microcephaly-deafness-intellectual disability syndrome	Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.	DOVES_relaxed.owl
MONDO:0008130	biolink:NamedThing	ophthalmoplegia-intellectual disability-lingua scrotalis syndrome		DOVES_relaxed.owl
MONDO:0008425	biolink:NamedThing	omphalocele syndrome, Shprintzen-Goldberg type	Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.	DOVES_relaxed.owl
MONDO:0008426	biolink:NamedThing	Shprintzen-Goldberg syndrome	Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.	DOVES_relaxed.owl
MONDO:0008445	biolink:NamedThing	delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome	This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.	DOVES_relaxed.owl
MONDO:0008488	biolink:NamedThing	holoprosencephaly-radial heart renal anomalies syndrome	Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.	DOVES_relaxed.owl
MONDO:0008694	biolink:NamedThing	pseudoprogeria syndrome	Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.	DOVES_relaxed.owl
MONDO:0008708	biolink:NamedThing	acrocallosal syndrome	Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.	DOVES_relaxed.owl
MONDO:0008714	biolink:NamedThing	acrofacial dysostosis Rodriguez type	Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.	DOVES_relaxed.owl
MONDO:0008740	biolink:NamedThing	agnathia-otocephaly complex	Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.	DOVES_relaxed.owl
MONDO:0008743	biolink:NamedThing	Stimmler syndrome	Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.	DOVES_relaxed.owl
MONDO:0008791	biolink:NamedThing	anencephaly 1	Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.	DOVES_relaxed.owl
MONDO:0008796	biolink:NamedThing	aniridia-renal agenesis-psychomotor retardation syndrome	Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.	DOVES_relaxed.owl
MONDO:0008864	biolink:NamedThing	Biemond syndrome type 2	Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.	DOVES_relaxed.owl
MONDO:0008893	biolink:NamedThing	C syndrome	C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.	DOVES_relaxed.owl
MONDO:0009024	biolink:NamedThing	cortical blindness-intellectual disability-polydactyly syndrome	This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly.	DOVES_relaxed.owl
MONDO:0009026	biolink:NamedThing	Costello syndrome	Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.	DOVES_relaxed.owl
MONDO:0009033	biolink:NamedThing	temtamy syndrome	Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	DOVES_relaxed.owl
MONDO:0009036	biolink:NamedThing	cardiocranial syndrome, Pfeiffer type	Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).	DOVES_relaxed.owl
MONDO:0009124	biolink:NamedThing	Dubowitz syndrome	A rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.	DOVES_relaxed.owl
MONDO:0009167	biolink:NamedThing	Bonnemann-Meinecke-Reich syndrome	Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.	DOVES_relaxed.owl
MONDO:0009205	biolink:NamedThing	faciocardiorenal syndrome	Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.	DOVES_relaxed.owl
MONDO:0009241	biolink:NamedThing	fountain syndrome	Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.	DOVES_relaxed.owl
MONDO:0009253	biolink:NamedThing	Fryns syndrome	Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.	DOVES_relaxed.owl
MONDO:0009263	biolink:NamedThing	GAPO syndrome	A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations	DOVES_relaxed.owl
MONDO:0009320	biolink:NamedThing	Hall-Riggs syndrome	Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.	DOVES_relaxed.owl
MONDO:0009435	biolink:NamedThing	hypospadias-intellectual disability, Goldblatt type syndrome	Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.	DOVES_relaxed.owl
MONDO:0009477	biolink:NamedThing	Stromme syndrome	An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).	DOVES_relaxed.owl
MONDO:0009483	biolink:NamedThing	Kapur-Toriello syndrome	Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.	DOVES_relaxed.owl
MONDO:0009485	biolink:NamedThing	oculocerebrofacial syndrome, Kaufman type		DOVES_relaxed.owl
MONDO:0009495	biolink:NamedThing	Keutel syndrome	Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0009507	biolink:NamedThing	Lambert syndrome	Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.	DOVES_relaxed.owl
MONDO:0009543	biolink:NamedThing	prominent glabella-microcephaly-hypogenitalism syndrome	Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	DOVES_relaxed.owl
MONDO:0009564	biolink:NamedThing	Marden-Walker syndrome	Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.	DOVES_relaxed.owl
MONDO:0009565	biolink:NamedThing	microcephaly-glomerulonephritis-marfanoid habitus syndrome	This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis.	DOVES_relaxed.owl
MONDO:0009566	biolink:NamedThing	marfanoid habitus-autosomal recessive intellectual disability syndrome	Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.	DOVES_relaxed.owl
MONDO:0009570	biolink:NamedThing	McDonough syndrome	A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism.	DOVES_relaxed.owl
MONDO:0009581	biolink:NamedThing	intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome	Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterised by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait.	DOVES_relaxed.owl
MONDO:0009618	biolink:NamedThing	microcephaly-cardiomyopathy syndrome	A syndrome characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0009620	biolink:NamedThing	Say-Barber-Miller syndrome	Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.	DOVES_relaxed.owl
MONDO:0009621	biolink:NamedThing	microcephaly-cervical spine fusion anomalies syndrome	Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0009622	biolink:NamedThing	Jawad syndrome	Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.	DOVES_relaxed.owl
MONDO:0009668	biolink:NamedThing	lethal multiple pterygium syndrome	Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.	DOVES_relaxed.owl
MONDO:0009740	biolink:NamedThing	neurofaciodigitorenal syndrome	Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.	DOVES_relaxed.owl
MONDO:0009769	biolink:NamedThing	oculo-palato-cerebral syndrome	Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.	DOVES_relaxed.owl
MONDO:0009777	biolink:NamedThing	Oliver syndrome	Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.	DOVES_relaxed.owl
MONDO:0009780	biolink:NamedThing	lethal omphalocele-cleft palate syndrome	Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition.	DOVES_relaxed.owl
MONDO:0009858	biolink:NamedThing	Pfeiffer-Palm-Teller syndrome	Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.	DOVES_relaxed.owl
MONDO:0009905	biolink:NamedThing	urban-Rogers-Meyer syndrome	This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.	DOVES_relaxed.owl
MONDO:0009921	biolink:NamedThing	holoprosencephaly-postaxial polydactyly syndrome	Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.	DOVES_relaxed.owl
MONDO:0009963	biolink:NamedThing	Ulbright-Hodes syndrome	Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0010007	biolink:NamedThing	microbrachycephaly-ptosis-cleft lip syndrome	Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0010035	biolink:NamedThing	Smith-Lemli-Opitz syndrome	Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.	DOVES_relaxed.owl
MONDO:0010039	biolink:NamedThing	congenital heart defect-round face-developmental delay syndrome	Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.	DOVES_relaxed.owl
MONDO:0010092	biolink:NamedThing	Filippi syndrome	Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0010125	biolink:NamedThing	upper limb defect-eye and ear abnormalities syndrome	Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.	DOVES_relaxed.owl
MONDO:0010193	biolink:NamedThing	Weaver syndrome	Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.	DOVES_relaxed.owl
MONDO:0010485	biolink:NamedThing	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.	DOVES_relaxed.owl
MONDO:0010617	biolink:NamedThing	male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome	This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	DOVES_relaxed.owl
MONDO:0010835	biolink:NamedThing	pterygium colli-intellectual disability-digital anomalies syndrome	Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.	DOVES_relaxed.owl
MONDO:0010851	biolink:NamedThing	Lowry-MacLean syndrome	Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.	DOVES_relaxed.owl
MONDO:0010865	biolink:NamedThing	pseudoaminopterin syndrome	Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.	DOVES_relaxed.owl
MONDO:0010890	biolink:NamedThing	acrocardiofacial syndrome	Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.	DOVES_relaxed.owl
MONDO:0010992	biolink:NamedThing	Ayme-Gripp syndrome		DOVES_relaxed.owl
MONDO:0010993	biolink:NamedThing	Harrod syndrome	Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.	DOVES_relaxed.owl
MONDO:0010999	biolink:NamedThing	fallot complex-intellectual disability-growth delay syndrome	Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.	DOVES_relaxed.owl
MONDO:0011045	biolink:NamedThing	MMEP syndrome	A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.	DOVES_relaxed.owl
MONDO:0011048	biolink:NamedThing	epilepsy-microcephaly-skeletal dysplasia syndrome	Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.	DOVES_relaxed.owl
MONDO:0011049	biolink:NamedThing	Fine-Lubinsky syndrome	A syndrome characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.	DOVES_relaxed.owl
MONDO:0011145	biolink:NamedThing	colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0011499	biolink:NamedThing	Okamoto syndrome	Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported.	DOVES_relaxed.owl
MONDO:0011518	biolink:NamedThing	Wiedemann-Steiner syndrome	Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.	DOVES_relaxed.owl
MONDO:0011575	biolink:NamedThing	cerebrooculonasal syndrome	Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.	DOVES_relaxed.owl
MONDO:0011640	biolink:NamedThing	genitopatellar syndrome	Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.	DOVES_relaxed.owl
MONDO:0011722	biolink:NamedThing	intellectual disability-obesity-prognathism-eye and skin anomalies syndrome		DOVES_relaxed.owl
MONDO:0012095	biolink:NamedThing	intellectual disability-brachydactyly-Pierre Robin syndrome	Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.	DOVES_relaxed.owl
MONDO:0012280	biolink:NamedThing	Goldberg-Shprintzen megacolon syndrome	Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.	DOVES_relaxed.owl
MONDO:0012399	biolink:NamedThing	complex cortical dysplasia with other brain malformations 7	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene.	DOVES_relaxed.owl
MONDO:0012496	biolink:NamedThing	Koolen-de Vries syndrome	A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.	DOVES_relaxed.owl
MONDO:0012508	biolink:NamedThing	agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome	A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.	DOVES_relaxed.owl
MONDO:0012516	biolink:NamedThing	mandibulofacial dysostosis-microcephaly syndrome	Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.	DOVES_relaxed.owl
MONDO:0012759	biolink:NamedThing	camptodactyly syndrome, Guadalajara type 3	Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.	DOVES_relaxed.owl
MONDO:0012948	biolink:NamedThing	chromosome 6pter-p24 deletion syndrome	Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0013036	biolink:NamedThing	Zechi-Ceide syndrome		DOVES_relaxed.owl
MONDO:0013090	biolink:NamedThing	chromosome 19q13.11 deletion syndrome	The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.	DOVES_relaxed.owl
MONDO:0013169	biolink:NamedThing	chromosome 5p13 duplication syndrome	5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).	DOVES_relaxed.owl
MONDO:0013182	biolink:NamedThing	chromosome 17p13.3 duplication syndrome	17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.	DOVES_relaxed.owl
MONDO:0013245	biolink:NamedThing	syndromic multisystem autoimmune disease due to ITCH deficiency		DOVES_relaxed.owl
MONDO:0013256	biolink:NamedThing	chromosome 15q24 deletion syndrome	15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.	DOVES_relaxed.owl
MONDO:0013298	biolink:NamedThing	chromosome 17q21.31 duplication syndrome	The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.	DOVES_relaxed.owl
MONDO:0013336	biolink:NamedThing	chromosome 19p13.13 deletion syndrome	19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).	DOVES_relaxed.owl
MONDO:0013362	biolink:NamedThing	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		DOVES_relaxed.owl
MONDO:0013646	biolink:NamedThing	chromosome 8q21.11 deletion syndrome	8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.	DOVES_relaxed.owl
MONDO:0013735	biolink:NamedThing	microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.	DOVES_relaxed.owl
MONDO:0014067	biolink:NamedThing	short ulna-dysmorphism-hypotonia-intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0014096	biolink:NamedThing	microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome	This syndrome is characterised by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).	DOVES_relaxed.owl
MONDO:0014196	biolink:NamedThing	Hartsfield-Bixler-Demyer syndrome		DOVES_relaxed.owl
MONDO:0014205	biolink:NamedThing	severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome		DOVES_relaxed.owl
MONDO:0014238	biolink:NamedThing	severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome		DOVES_relaxed.owl
MONDO:0014273	biolink:NamedThing	microcephaly-thin corpus callosum-intellectual disability syndrome	Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.	DOVES_relaxed.owl
MONDO:0014289	biolink:NamedThing	macrocephaly-developmental delay syndrome	Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally.	DOVES_relaxed.owl
MONDO:0014298	biolink:NamedThing	chromosome 5q12 deletion syndrome	PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.	DOVES_relaxed.owl
MONDO:0014336	biolink:NamedThing	intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		DOVES_relaxed.owl
MONDO:0014382	biolink:NamedThing	tall stature-intellectual disability-facial dysmorphism syndrome	A rare multiple congenital anomalies syndrome characterized by greater hight, mild to moderate intellectual disability and distinctive facial appereance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.	DOVES_relaxed.owl
MONDO:0014413	biolink:NamedThing	orofaciodigital syndrome type 14	Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.	DOVES_relaxed.owl
MONDO:0014507	biolink:NamedThing	Catel-Manzke syndrome	Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.	DOVES_relaxed.owl
MONDO:0014605	biolink:NamedThing	microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		DOVES_relaxed.owl
MONDO:0014609	biolink:NamedThing	cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome		DOVES_relaxed.owl
MONDO:0014643	biolink:NamedThing	congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0014748	biolink:NamedThing	progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0014751	biolink:NamedThing	palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.	DOVES_relaxed.owl
MONDO:0014757	biolink:NamedThing	macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		DOVES_relaxed.owl
MONDO:0014886	biolink:NamedThing	severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0015233	biolink:NamedThing	caudal appendage-deafness syndrome	Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.	DOVES_relaxed.owl
MONDO:0015234	biolink:NamedThing	arachnodactyly-abnormal ossification-intellectual disability syndrome	Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.	DOVES_relaxed.owl
MONDO:0015259	biolink:NamedThing	brachydactyly-mesomelia-intellectual disability-heart defects syndrome	Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).	DOVES_relaxed.owl
MONDO:0015280	biolink:NamedThing	cardiofaciocutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.	DOVES_relaxed.owl
MONDO:0015324	biolink:NamedThing	cataract-intellectual disability-anal atresia-urinary defects syndrome	Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.	DOVES_relaxed.owl
MONDO:0015325	biolink:NamedThing	cataract-deafness-hypogonadism syndrome	Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.	DOVES_relaxed.owl
MONDO:0015452	biolink:NamedThing	Coffin-Siris syndrome	Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.	DOVES_relaxed.owl
MONDO:0015458	biolink:NamedThing	intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0015463	biolink:NamedThing	craniodigital syndrome-intellectual disability syndrome	Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.	DOVES_relaxed.owl
MONDO:0015473	biolink:NamedThing	cryptorchidism-arachnodactyly-intellectual disability syndrome	Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.	DOVES_relaxed.owl
MONDO:0015781	biolink:NamedThing	facial dysmorphism-shawl scrotum-joint laxity syndrome	Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.	DOVES_relaxed.owl
MONDO:0015941	biolink:NamedThing	epiphyseal dysplasia-hearing loss-dysmorphism syndrome	Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.	DOVES_relaxed.owl
MONDO:0016033	biolink:NamedThing	Cornelia de Lange syndrome	A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.	DOVES_relaxed.owl
MONDO:0016065	biolink:NamedThing	cleft palate-short stature-vertebral anomalies syndrome	Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.	DOVES_relaxed.owl
MONDO:0016256	biolink:NamedThing	Hennekam syndrome	Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0016290	biolink:NamedThing	Hernández-Aguirre Negrete syndrome	A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait.	DOVES_relaxed.owl
MONDO:0016433	biolink:NamedThing	dysmorphism-short stature-deafness-disorder of sex development syndrome	Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.	DOVES_relaxed.owl
MONDO:0016560	biolink:NamedThing	ptosis-syndactyly-learning difficulties syndrome		DOVES_relaxed.owl
MONDO:0016719	biolink:NamedThing	microcephaly-seizures-intellectual disability-heart disease syndrome	Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males.	DOVES_relaxed.owl
MONDO:0016750	biolink:NamedThing	microcephaly-cleft palate syndrome	Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.	DOVES_relaxed.owl
MONDO:0016760	biolink:NamedThing	microcephaly-microcornea syndrome, Seemanova type	Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.	DOVES_relaxed.owl
MONDO:0016779	biolink:NamedThing	multiple congenital anomalies due to 14q32.2 maternally expressed gene defect	Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.	DOVES_relaxed.owl
MONDO:0017045	biolink:NamedThing	neuroectodermal-endocrine syndrome	Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.	DOVES_relaxed.owl
MONDO:0017284	biolink:NamedThing	Xp22.13p22.2 duplication syndrome		DOVES_relaxed.owl
MONDO:0017315	biolink:NamedThing	short stature-webbed neck-heart disease syndrome	Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.	DOVES_relaxed.owl
MONDO:0017335	biolink:NamedThing	microtriplication 11q24.1	Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.	DOVES_relaxed.owl
MONDO:0017377	biolink:NamedThing	preaxial polydactyly-colobomata-intellectual disability syndrome	Preaxial polydactyly-colobomata-intellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0017393	biolink:NamedThing	blepharophimosis - intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0017579	biolink:NamedThing	Baraitser-Winter cerebrofrontofacial syndrome	Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients.	DOVES_relaxed.owl
MONDO:0017580	biolink:NamedThing	11p15.4 microduplication syndrome	11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.	DOVES_relaxed.owl
MONDO:0017668	biolink:NamedThing	intellectual disability-short stature-hypertelorism syndrome	Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome.	DOVES_relaxed.owl
MONDO:0017682	biolink:NamedThing	intellectual disability-polydactyly-uncombable hair syndrome	Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.	DOVES_relaxed.owl
MONDO:0017780	biolink:NamedThing	20p13 microdeletion syndrome	20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.	DOVES_relaxed.owl
MONDO:0017805	biolink:NamedThing	intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome		DOVES_relaxed.owl
MONDO:0017806	biolink:NamedThing	15q overgrowth syndrome	15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.	DOVES_relaxed.owl
MONDO:0017867	biolink:NamedThing	distal 17p13.1 microdeletion syndrome	Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.	DOVES_relaxed.owl
MONDO:0017920	biolink:NamedThing	deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome	Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).	DOVES_relaxed.owl
MONDO:0017932	biolink:NamedThing	muscular hypertrophy-hepatomegaly-polyhydramnios syndrome		DOVES_relaxed.owl
MONDO:0017934	biolink:NamedThing	aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome	Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.	DOVES_relaxed.owl
MONDO:0017950	biolink:NamedThing	microcephalic primordial dwarfism		DOVES_relaxed.owl
MONDO:0017995	biolink:NamedThing	spondylocostal dysostosis-hypospadias-intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0017997	biolink:NamedThing	telecanthus-hypertelorism-strabismus-pes cavus syndrome	Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.	DOVES_relaxed.owl
MONDO:0018091	biolink:NamedThing	microcephaly-brachydactyly-kyphoscoliosis syndrome	Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.	DOVES_relaxed.owl
MONDO:0018095	biolink:NamedThing	Weaver-Williams syndrome	Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.	DOVES_relaxed.owl
MONDO:0018204	biolink:NamedThing	20q11.2 microduplication syndrome	20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.	DOVES_relaxed.owl
MONDO:0018207	biolink:NamedThing	2p13.2 microdeletion syndrome	2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.	DOVES_relaxed.owl
MONDO:0018248	biolink:NamedThing	intellectual disability-seizures-macrocephaly-obesity syndrome	Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.	DOVES_relaxed.owl
MONDO:0018253	biolink:NamedThing	intellectual disability-facial dysmorphism-hand anomalies syndrome		DOVES_relaxed.owl
MONDO:0018429	biolink:NamedThing	14q24.1q24.3 microdeletion syndrome		DOVES_relaxed.owl
MONDO:0018443	biolink:NamedThing	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome		DOVES_relaxed.owl
MONDO:0018474	biolink:NamedThing	13q12.3 microdeletion syndrome	13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.	DOVES_relaxed.owl
MONDO:0018490	biolink:NamedThing	cono-spondylar dysplasia	Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.	DOVES_relaxed.owl
MONDO:0018494	biolink:NamedThing	microcephaly-short stature-intellectual disability-facial dysmorphism syndrome	Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.	DOVES_relaxed.owl
MONDO:0018572	biolink:NamedThing	severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome		DOVES_relaxed.owl
MONDO:0018632	biolink:NamedThing	11q22.2q22.3 microdeletion syndrome		DOVES_relaxed.owl
MONDO:0018633	biolink:NamedThing	20q11.2 microdeletion syndrome	20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.	DOVES_relaxed.owl
MONDO:0018658	biolink:NamedThing	19p13.3 microduplication syndrome	19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.	DOVES_relaxed.owl
MONDO:0018697	biolink:NamedThing	1p35.2 microdeletion syndrome		DOVES_relaxed.owl
MONDO:0018710	biolink:NamedThing	megalencephaly-severe kyphoscoliosis-overgrowth syndrome		DOVES_relaxed.owl
MONDO:0018711	biolink:NamedThing	intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome		DOVES_relaxed.owl
MONDO:0018725	biolink:NamedThing	corpus callosum agenesis-macrocephaly-hypertelorism syndrome		DOVES_relaxed.owl
MONDO:0018760	biolink:NamedThing	DeSanto-Shinawi syndrome		DOVES_relaxed.owl
MONDO:0018825	biolink:NamedThing	PYCR2-related microcephaly-progressive leukoencephalopathy	PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.	DOVES_relaxed.owl
MONDO:0019133	biolink:NamedThing	visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome	Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).	DOVES_relaxed.owl
MONDO:0019153	biolink:NamedThing	brain malformation-congenital heart disease-postaxial polydactyly syndrome	Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.	DOVES_relaxed.owl
MONDO:0019603	biolink:NamedThing	osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome	Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.	DOVES_relaxed.owl
MONDO:0019786	biolink:NamedThing	severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia	Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14.	DOVES_relaxed.owl
MONDO:0033682	biolink:NamedThing	skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		DOVES_relaxed.owl
MONDO:0033683	biolink:NamedThing	congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome		DOVES_relaxed.owl
MONDO:0034142	biolink:NamedThing	pancreatic agenesis-holoprosencephaly syndrome		DOVES_relaxed.owl
MONDO:0034145	biolink:NamedThing	oculocerebrodental syndrome		DOVES_relaxed.owl
MONDO:0036042	biolink:NamedThing	KAT6B-related multiple congenital anomalies syndrome		DOVES_relaxed.owl
MONDO:0044621	biolink:NamedThing	16p12.1p12.3 triplication syndrome	16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.	DOVES_relaxed.owl
MONDO:0044696	biolink:NamedThing	early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome		DOVES_relaxed.owl
MONDO:0044738	biolink:NamedThing	Gabriele de Vries syndrome		DOVES_relaxed.owl
MONDO:0054636	biolink:NamedThing	Skraban-Deardorff syndrome		DOVES_relaxed.owl
MONDO:0060568	biolink:NamedThing	Pilarowski-Bjornsson syndrome		DOVES_relaxed.owl
MONDO:8000008	biolink:NamedThing	Martsolf syndrome 1	This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	DOVES_relaxed.owl
MONDO:0017270	biolink:NamedThing	autosomal ichthyosis syndrome		DOVES_relaxed.owl
MONDO:0007811	biolink:NamedThing	ichthyosis-cheek-eyebrow syndrome	Ichthyosis-cheek-eyebrow syndrome is characterised by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0008924	biolink:NamedThing	congenital cataract-ichthyosis syndrome	Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0009444	biolink:NamedThing	ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome	Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.	DOVES_relaxed.owl
MONDO:0009445	biolink:NamedThing	ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome	Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.	DOVES_relaxed.owl
MONDO:0009446	biolink:NamedThing	ichthyosis-intellectual disability-dwarfism-renal impairment syndrome	Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0009792	biolink:NamedThing	ichthyosis-oral and digital anomalies syndrome	Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0010155	biolink:NamedThing	Dorfman-Chanarin disease		DOVES_relaxed.owl
MONDO:0011874	biolink:NamedThing	neonatal ichthyosis-sclerosing cholangitis syndrome	Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.	DOVES_relaxed.owl
MONDO:0011945	biolink:NamedThing	Gaucher disease perinatal lethal	Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).	DOVES_relaxed.owl
MONDO:0012089	biolink:NamedThing	ichthyosis prematurity syndrome	Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.	DOVES_relaxed.owl
MONDO:0012251	biolink:NamedThing	MEDNIK syndrome	MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).	DOVES_relaxed.owl
MONDO:0012290	biolink:NamedThing	CEDNIK syndrome	CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.	DOVES_relaxed.owl
MONDO:0012387	biolink:NamedThing	osteosclerosis-ichthyosis-premature ovarian failure syndrome	This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.	DOVES_relaxed.owl
MONDO:0012556	biolink:NamedThing	DK1-congenital disorder of glycosylation	DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.	DOVES_relaxed.owl
MONDO:0013176	biolink:NamedThing	Weill-Marchesani 4 syndrome, recessive		DOVES_relaxed.owl
MONDO:0013760	biolink:NamedThing	congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome		DOVES_relaxed.owl
MONDO:0016417	biolink:NamedThing	congenital ichthyosis-microcephalus-tetraplegia syndrome		DOVES_relaxed.owl
MONDO:0018053	biolink:NamedThing	trichothiodystrophy	Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).	DOVES_relaxed.owl
MONDO:0018781	biolink:NamedThing	KID syndrome	Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.	DOVES_relaxed.owl
MONDO:0018491	biolink:NamedThing	3-phosphoglycerate dehydrogenase deficiency		DOVES_relaxed.owl
MONDO:0011152	biolink:NamedThing	PHGDH deficiency	3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form	DOVES_relaxed.owl
MONDO:0004674	biolink:NamedThing	chorioretinitis	Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision.	DOVES_relaxed.owl
MONDO:0002164	biolink:NamedThing	focal chorioretinitis		DOVES_relaxed.owl
MONDO:0004657	biolink:NamedThing	disseminated chorioretinitis		DOVES_relaxed.owl
MONDO:0011644	biolink:NamedThing	pars planitis	An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders.	DOVES_relaxed.owl
MONDO:0007163	biolink:NamedThing	episodic ataxia type 2	Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.	DOVES_relaxed.owl
MONDO:0008457	biolink:NamedThing	spinocerebellar ataxia type 6	Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.	DOVES_relaxed.owl
MONDO:0010702	biolink:NamedThing	orofaciodigital syndrome I	A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.	DOVES_relaxed.owl
MONDO:0012735	biolink:NamedThing	Temple-Baraitser syndrome	A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.	DOVES_relaxed.owl
MONDO:0013033	biolink:NamedThing	cerebral palsy, spastic quadriplegic, 2	Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene.	DOVES_relaxed.owl
MONDO:0013527	biolink:NamedThing	lissencephaly 4	Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene.	DOVES_relaxed.owl
MONDO:0014811	biolink:NamedThing	cerebellar atrophy, visual impairment, and psychomotor retardation;		DOVES_relaxed.owl
MONDO:0014857	biolink:NamedThing	neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		DOVES_relaxed.owl
MONDO:0014862	biolink:NamedThing	cerebral palsy, spastic quadriplegic, 3	Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.	DOVES_relaxed.owl
MONDO:0014893	biolink:NamedThing	Okur-Chung neurodevelopmental syndrome		DOVES_relaxed.owl
MONDO:0014958	biolink:NamedThing	Harel-Yoon syndrome	A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.	DOVES_relaxed.owl
MONDO:0014995	biolink:NamedThing	neurodevelopmental disorder with hypotonia, seizures, and absent language		DOVES_relaxed.owl
MONDO:0016241	biolink:NamedThing	alternating hemiplegia of childhood	A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.	DOVES_relaxed.owl
MONDO:0020756	biolink:NamedThing	migraine, familial hemiplegic, 1		DOVES_relaxed.owl
MONDO:0020841	biolink:NamedThing	neurodevelopmental disorder with cerebellar atrophy and with or without seizures		DOVES_relaxed.owl
MONDO:0024526	biolink:NamedThing	Zimmermann-Laband syndrome 1	Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene.	DOVES_relaxed.owl
MONDO:0030024	biolink:NamedThing	neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities		DOVES_relaxed.owl
MONDO:0030025	biolink:NamedThing	neurodevelopmental disorder with hypotonia, microcephaly, and seizures		DOVES_relaxed.owl
MONDO:0030046	biolink:NamedThing	neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity		DOVES_relaxed.owl
MONDO:0030060	biolink:NamedThing	neurodevelopmental disorder with language impairment and behavioral abnormalities		DOVES_relaxed.owl
MONDO:0030063	biolink:NamedThing	neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities		DOVES_relaxed.owl
MONDO:0030852	biolink:NamedThing	neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities		DOVES_relaxed.owl
MONDO:0030866	biolink:NamedThing	neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities		DOVES_relaxed.owl
MONDO:0030930	biolink:NamedThing	neurodevelopmental disorder with or without early-onset generalized epilepsy		DOVES_relaxed.owl
MONDO:0030994	biolink:NamedThing	neurodevelopmental disorder with or without autism or seizures		DOVES_relaxed.owl
MONDO:0030999	biolink:NamedThing	neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism		DOVES_relaxed.owl
MONDO:0031011	biolink:NamedThing	neurodevelopmental disorder with dysmorphic facies and variable seizures		DOVES_relaxed.owl
MONDO:0032661	biolink:NamedThing	neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia		DOVES_relaxed.owl
MONDO:0032697	biolink:NamedThing	neurodevelopmental disorder and language delay with or without structural brain abnormalities		DOVES_relaxed.owl
MONDO:0032698	biolink:NamedThing	neurodevelopmental disorder with central and peripheral motor dysfunction		DOVES_relaxed.owl
MONDO:0032705	biolink:NamedThing	neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination		DOVES_relaxed.owl
MONDO:0032741	biolink:NamedThing	neurodevelopmental disorder with impaired speech and hyperkinetic movements		DOVES_relaxed.owl
MONDO:0032755	biolink:NamedThing	neurodevelopmental disorder with or without variable brain abnormalities; NEDBA		DOVES_relaxed.owl
MONDO:0032775	biolink:NamedThing	neurodevelopmental disorder with seizures and speech and walking impairment		DOVES_relaxed.owl
MONDO:0032779	biolink:NamedThing	neurodevelopmental disorder with microcephaly and structural brain anomalies		DOVES_relaxed.owl
MONDO:0032784	biolink:NamedThing	neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements		DOVES_relaxed.owl
MONDO:0032790	biolink:NamedThing	neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities		DOVES_relaxed.owl
MONDO:0032807	biolink:NamedThing	neurodevelopmental disorder with visual defects and brain anomalies		DOVES_relaxed.owl
MONDO:0032816	biolink:NamedThing	neurodevelopmental disorder with ataxia, hypotonia, and microcephaly		DOVES_relaxed.owl
MONDO:0032817	biolink:NamedThing	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies		DOVES_relaxed.owl
MONDO:0032818	biolink:NamedThing	neurodevelopmental disorder with cerebellar hypoplasia and spasticity		DOVES_relaxed.owl
MONDO:0032820	biolink:NamedThing	neurodevelopmental disorder with structural brain anomalies and dysmorphic facies		DOVES_relaxed.owl
MONDO:0032829	biolink:NamedThing	neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities		DOVES_relaxed.owl
MONDO:0032838	biolink:NamedThing	neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies		DOVES_relaxed.owl
MONDO:0032849	biolink:NamedThing	neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies		DOVES_relaxed.owl
MONDO:0032855	biolink:NamedThing	neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies		DOVES_relaxed.owl
MONDO:0032876	biolink:NamedThing	neurodevelopmental disorder with absent language and variable seizures		DOVES_relaxed.owl
MONDO:0032877	biolink:NamedThing	neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures		DOVES_relaxed.owl
MONDO:0032878	biolink:NamedThing	neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia		DOVES_relaxed.owl
MONDO:0032887	biolink:NamedThing	neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity		DOVES_relaxed.owl
MONDO:0032888	biolink:NamedThing	neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies		DOVES_relaxed.owl
MONDO:0032889	biolink:NamedThing	Poirier-Bienvenu neurodevelopmental syndrome		DOVES_relaxed.owl
MONDO:0032894	biolink:NamedThing	neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy		DOVES_relaxed.owl
MONDO:0032900	biolink:NamedThing	neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements		DOVES_relaxed.owl
MONDO:0032921	biolink:NamedThing	neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation		DOVES_relaxed.owl
MONDO:0032942	biolink:NamedThing	neurodevelopmental disorder with microcephaly and dysmorphic facies		DOVES_relaxed.owl
MONDO:0032943	biolink:NamedThing	neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies		DOVES_relaxed.owl
MONDO:0033562	biolink:NamedThing	neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia		DOVES_relaxed.owl
MONDO:0033613	biolink:NamedThing	neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities		DOVES_relaxed.owl
MONDO:0033630	biolink:NamedThing	neurodevelopmental disorder with speech impairment and dysmorphic facies		DOVES_relaxed.owl
MONDO:0033658	biolink:NamedThing	neurodevelopmental disorder with seizures and brain atrophy		DOVES_relaxed.owl
MONDO:0033662	biolink:NamedThing	neurodevelopmental disorder with microcephaly, seizures, and brain atrophy		DOVES_relaxed.owl
MONDO:0044306	biolink:NamedThing	neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}).	DOVES_relaxed.owl
MONDO:0056797	biolink:NamedThing	neurodevelopmental disorder with midbrain and hindbrain malformations		DOVES_relaxed.owl
MONDO:0060490	biolink:NamedThing	neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.	DOVES_relaxed.owl
MONDO:0060491	biolink:NamedThing	neurodevelopmental disorder with involuntary movements		DOVES_relaxed.owl
MONDO:0060496	biolink:NamedThing	neurodevelopmental disorder with hypotonia, neuropathy, and deafness		DOVES_relaxed.owl
MONDO:0060562	biolink:NamedThing	encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		DOVES_relaxed.owl
MONDO:0060577	biolink:NamedThing	neurodevelopmental disorder with microcephaly, ataxia, and seizures		DOVES_relaxed.owl
MONDO:0060578	biolink:NamedThing	neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures		DOVES_relaxed.owl
MONDO:0060596	biolink:NamedThing	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies		DOVES_relaxed.owl
MONDO:0060621	biolink:NamedThing	neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy		DOVES_relaxed.owl
MONDO:0060622	biolink:NamedThing	neurodevelopmental disorder with severe motor impairment and absent language		DOVES_relaxed.owl
MONDO:0060624	biolink:NamedThing	neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter		DOVES_relaxed.owl
MONDO:0060629	biolink:NamedThing	neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive		DOVES_relaxed.owl
MONDO:0060640	biolink:NamedThing	neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy		DOVES_relaxed.owl
MONDO:0060641	biolink:NamedThing	neurodevelopmental disorder with or without seizures and gait abnormalities		DOVES_relaxed.owl
MONDO:0060642	biolink:NamedThing	neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features		DOVES_relaxed.owl
MONDO:0060659	biolink:NamedThing	neurodevelopmental disorder with poor language and loss of hand skills		DOVES_relaxed.owl
MONDO:0060664	biolink:NamedThing	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		DOVES_relaxed.owl
MONDO:0060704	biolink:NamedThing	neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures		DOVES_relaxed.owl
MONDO:0060752	biolink:NamedThing	neurodevelopmental disorder with spasticity and poor growth		DOVES_relaxed.owl
MONDO:0060759	biolink:NamedThing	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures		DOVES_relaxed.owl
MONDO:0060761	biolink:NamedThing	neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum		DOVES_relaxed.owl
MONDO:0100040	biolink:NamedThing	FOXG1 disorder	A monogenic disease that has material basis in mutation in the FOXG1 gene.	DOVES_relaxed.owl
MONDO:0100148	biolink:NamedThing	X-linked complex neurodevelopmental disorder	A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.	DOVES_relaxed.owl
MONDO:0020345	biolink:NamedThing	presynaptic congenital myasthenic syndrome		DOVES_relaxed.owl
MONDO:0020346	biolink:NamedThing	synaptic congenital myasthenic syndrome		DOVES_relaxed.owl
MONDO:0000188	biolink:NamedThing	GLUT1 deficiency syndrome	An epileptic encephalopathy resulting from impaired glucose transport into the brain.	DOVES_relaxed.owl
MONDO:0000456	biolink:NamedThing	cerebral creatine deficiency syndrome	Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.	DOVES_relaxed.owl
MONDO:0005579	biolink:NamedThing	epilepsy, idiopathic generalized	A chronic condition characterised by recurrent generalised seizures.	DOVES_relaxed.owl
MONDO:0009532	biolink:NamedThing	Miller-Dieker lissencephaly syndrome	A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.	DOVES_relaxed.owl
MONDO:0009666	biolink:NamedThing	holocarboxylase synthetase deficiency	A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.	DOVES_relaxed.owl
MONDO:0009945	biolink:NamedThing	pyridoxine-dependent epilepsy	A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).	DOVES_relaxed.owl
MONDO:0010397	biolink:NamedThing	severe neonatal-onset encephalopathy with microcephaly	An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.	DOVES_relaxed.owl
MONDO:0010826	biolink:NamedThing	childhood absence epilepsy	Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.	DOVES_relaxed.owl
MONDO:0011178	biolink:NamedThing	infantile convulsions and choreoathetosis	Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.	DOVES_relaxed.owl
MONDO:0012407	biolink:NamedThing	pyridoxal phosphate-responsive seizures	Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.	DOVES_relaxed.owl
MONDO:0012611	biolink:NamedThing	polyhydramnios, megalencephaly, and symptomatic epilepsy		DOVES_relaxed.owl
MONDO:0015921	biolink:NamedThing	ARX-related epileptic encephalopathy		DOVES_relaxed.owl
MONDO:0016025	biolink:NamedThing	myoclonic-astastic epilepsy	Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.	DOVES_relaxed.owl
MONDO:0016027	biolink:NamedThing	benign neonatal seizures	A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.	DOVES_relaxed.owl
MONDO:0016160	biolink:NamedThing	X-linked intellectual disability-epilepsy syndrome		DOVES_relaxed.owl
MONDO:0017615	biolink:NamedThing	benign familial infantile epilepsy	Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	DOVES_relaxed.owl
MONDO:0018125	biolink:NamedThing	focal epilepsy-intellectual disability-cerebro-cerebellar malformation	Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed.	DOVES_relaxed.owl
MONDO:0018214	biolink:NamedThing	generalized epilepsy with febrile seizures plus	A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS).	DOVES_relaxed.owl
MONDO:0018314	biolink:NamedThing	infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.	DOVES_relaxed.owl
MONDO:0018446	biolink:NamedThing	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0018614	biolink:NamedThing	undetermined early-onset epileptic encephalopathy	A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.	DOVES_relaxed.owl
MONDO:0019053	biolink:NamedThing	peroxisomal disease	A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.	DOVES_relaxed.owl
MONDO:0019197	biolink:NamedThing	folinic acid-responsive seizures	Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.	DOVES_relaxed.owl
MONDO:0019207	biolink:NamedThing	DEND syndrome	DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.	DOVES_relaxed.owl
MONDO:0020074	biolink:NamedThing	progressive myoclonus epilepsy	A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.	DOVES_relaxed.owl
MONDO:0020627	biolink:NamedThing	epileptic encephalopathy, infantile or early childhood		DOVES_relaxed.owl
MONDO:0021927	biolink:NamedThing	arthrogryposis epileptic seizures migrational brain disorder		DOVES_relaxed.owl
MONDO:0023224	biolink:NamedThing	inherited reflex epilepsy	An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0024252	biolink:NamedThing	global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0035117	biolink:NamedThing	PUM1-associated developmental disability-ataxia-seizure syndrome		DOVES_relaxed.owl
MONDO:0100034	biolink:NamedThing	cerebral folate deficiency	Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system.	DOVES_relaxed.owl
MONDO:0019226	biolink:NamedThing	glucose transport disorder	An inherited metabolic disease that is has its basis in the disruption of glucose transport.	DOVES_relaxed.owl
MONDO:0009216	biolink:NamedThing	glycogen storage disease due to GLUT2 deficiency	Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.	DOVES_relaxed.owl
MONDO:0009297	biolink:NamedThing	familial renal glucosuria	Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2).	DOVES_relaxed.owl
MONDO:0011731	biolink:NamedThing	glucose-galactose malabsorption	Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.	DOVES_relaxed.owl
MONDO:0100033	biolink:NamedThing	metabolic epilepsy	Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.	DOVES_relaxed.owl
MONDO:0000190	biolink:NamedThing	ventricular fibrillation	A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)	DOVES_relaxed.owl
MONDO:0007263	biolink:NamedThing	cardiac rhythm disease	Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart.	DOVES_relaxed.owl
MONDO:0000466	biolink:NamedThing	first-degree atrioventricular block	A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds.	DOVES_relaxed.owl
MONDO:0000467	biolink:NamedThing	second-degree atrioventricular block	Intermittent failure of atrial electrical impulse conduction to the ventricles.	DOVES_relaxed.owl
MONDO:0000468	biolink:NamedThing	third-degree atrioventricular block	A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)	DOVES_relaxed.owl
MONDO:0000745	biolink:NamedThing	cardiac arrest	Cessation of breathing and/or cardiac function.	DOVES_relaxed.owl
MONDO:0004981	biolink:NamedThing	atrial fibrillation	A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)	DOVES_relaxed.owl
MONDO:0005477	biolink:NamedThing	ventricular tachycardia	A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)	DOVES_relaxed.owl
MONDO:0005479	biolink:NamedThing	atrial tachycardia	A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)	DOVES_relaxed.owl
MONDO:0007240	biolink:NamedThing	progressive familial heart block, type 1A	An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block.	DOVES_relaxed.owl
MONDO:0013317	biolink:NamedThing	torsade-de-pointes syndrome with short coupling interval	Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.	DOVES_relaxed.owl
MONDO:0013960	biolink:NamedThing	sinoatrial node dysfunction and deafness	Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.	DOVES_relaxed.owl
MONDO:0015257	biolink:NamedThing	sino-auricular heart block		DOVES_relaxed.owl
MONDO:0016348	biolink:NamedThing	non-genetic cardiac rhythm disease		DOVES_relaxed.owl
MONDO:0017989	biolink:NamedThing	His bundle tachycardia	His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.	DOVES_relaxed.owl
MONDO:0020745	biolink:NamedThing	ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome		DOVES_relaxed.owl
MONDO:0054866	biolink:NamedThing	sudden arrhythmia death syndrome		DOVES_relaxed.owl
MONDO:0100042	biolink:NamedThing	cardiac conduction defect		DOVES_relaxed.owl
MONDO:0100511	biolink:NamedThing	sudden cardiac arrest	The sudden loss of all heart activity due to an irregular heart rhythm.	DOVES_relaxed.owl
MONDO:0005336	biolink:NamedThing	myopathy	A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.	DOVES_relaxed.owl
MONDO:0000866	biolink:NamedThing	myoglobinuria		DOVES_relaxed.owl
MONDO:0004323	biolink:NamedThing	muscular atrophy	The loss of muscle tissue due to inactivity or disease.	DOVES_relaxed.owl
MONDO:0004746	biolink:NamedThing	myopathy of extraocular muscle	A myopathy that involves the extra-ocular muscle.	DOVES_relaxed.owl
MONDO:0006862	biolink:NamedThing	myofascial pain syndrome	Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome.	DOVES_relaxed.owl
MONDO:0010977	biolink:NamedThing	Brody myopathy	Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder.	DOVES_relaxed.owl
MONDO:0011634	biolink:NamedThing	rippling muscle disease	A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch	DOVES_relaxed.owl
MONDO:0013225	biolink:NamedThing	congenital generalized lipodystrophy type 4	Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.	DOVES_relaxed.owl
MONDO:0014220	biolink:NamedThing	myopathy due to myoadenylate deaminase deficiency		DOVES_relaxed.owl
MONDO:0014300	biolink:NamedThing	proximal myopathy with extrapyramidal signs	Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.	DOVES_relaxed.owl
MONDO:0016112	biolink:NamedThing	inclusion myopathy		DOVES_relaxed.owl
MONDO:0016125	biolink:NamedThing	infectious, fungal or parasitic myopathy		DOVES_relaxed.owl
MONDO:0019735	biolink:NamedThing	polymyalgia rheumatica	A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression.	DOVES_relaxed.owl
MONDO:0019943	biolink:NamedThing	hereditary continuous muscle fiber activity	Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.	DOVES_relaxed.owl
MONDO:0019952	biolink:NamedThing	congenital myopathy		DOVES_relaxed.owl
MONDO:0020121	biolink:NamedThing	muscular dystrophy	Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.	DOVES_relaxed.owl
MONDO:0020123	biolink:NamedThing	metabolic myopathy	A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.	DOVES_relaxed.owl
MONDO:0021167	biolink:NamedThing	myositis	An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue.	DOVES_relaxed.owl
MONDO:0100225	biolink:NamedThing	collagen 6-related myopathy	A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.	DOVES_relaxed.owl
MONDO:0700067	biolink:NamedThing	myopathy caused by variation in FKTN	Any myopathy in which the cause of the disease is a variation in the FKTN gene.	DOVES_relaxed.owl
MONDO:0700069	biolink:NamedThing	myopathy caused by variation in POMGNT2	Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene.	DOVES_relaxed.owl
MONDO:0700070	biolink:NamedThing	myopathy caused by variation in POMT1	Any myopathy in which the cause of the disease is a variation in the POMT1 gene.	DOVES_relaxed.owl
MONDO:0700071	biolink:NamedThing	myopathy caused by variation in POMT2	Any myopathy in which the cause of the disease is a variation in the POMT2 gene.	DOVES_relaxed.owl
MONDO:0700084	biolink:NamedThing	myopathy caused by variation in GMPPB	Any myopathy in which the cause of the disease is a variation in the GMPPB gene.	DOVES_relaxed.owl
MONDO:0000193	biolink:NamedThing	cortisone reductase deficiency	A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.	DOVES_relaxed.owl
MONDO:0002525	biolink:NamedThing	inherited lipid metabolism disorder	An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.	DOVES_relaxed.owl
MONDO:0001336	biolink:NamedThing	familial hyperlipidemia	An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0001822	biolink:NamedThing	hypolipoproteinemia	Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins).	DOVES_relaxed.owl
MONDO:0005523	biolink:NamedThing	steroid inherited metabolic disorder	Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero.	DOVES_relaxed.owl
MONDO:0010810	biolink:NamedThing	vitamin D hydroxylation-deficient rickets, type 1B	An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.	DOVES_relaxed.owl
MONDO:0012172	biolink:NamedThing	mitochondrial trifunctional protein deficiency	Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..	DOVES_relaxed.owl
MONDO:0015905	biolink:NamedThing	syndromic dyslipidemia	A inherited lipid metabolism disorder that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0017709	biolink:NamedThing	disorder of lipid absorption and transport		DOVES_relaxed.owl
MONDO:0017748	biolink:NamedThing	inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation		DOVES_relaxed.owl
MONDO:0017986	biolink:NamedThing	disorder of plasmalogens biosynthesis		DOVES_relaxed.owl
MONDO:0018117	biolink:NamedThing	disorder of phospholipids, sphingolipids and fatty acids biosynthesis		DOVES_relaxed.owl
MONDO:0019256	biolink:NamedThing	sterol metabolism disorder	An inherited metabolic disease that is has its basis in the disruption of sterol metabolic process.	DOVES_relaxed.owl
MONDO:0021130	biolink:NamedThing	disorder of sphingolipid biosynthesis	An inherited metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process.	DOVES_relaxed.owl
MONDO:0029140	biolink:NamedThing	glycosylphosphatidylinositol biosynthesis defect 18		DOVES_relaxed.owl
MONDO:0037858	biolink:NamedThing	inherited fatty acid metabolism disorder	A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.	DOVES_relaxed.owl
MONDO:0060724	biolink:NamedThing	glycosylphosphatidylinositol biosynthesis defect 17		DOVES_relaxed.owl
MONDO:0015898	biolink:NamedThing	adrenogenital syndrome	Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.	DOVES_relaxed.owl
MONDO:0018479	biolink:NamedThing	congenital adrenal hyperplasia	Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease.	DOVES_relaxed.owl
MONDO:0045023	biolink:NamedThing	acquired adrenogenital syndrome	An instance of adrenogenital syndrome that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0014148	biolink:NamedThing	estrogen resistance syndrome	Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.	DOVES_relaxed.owl
MONDO:0015770	biolink:NamedThing	congenital hypogonadotropic hypogonadism	Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).	DOVES_relaxed.owl
MONDO:0019852	biolink:NamedThing	inherited primary ovarian failure	An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0044660	biolink:NamedThing	menstrual cycle-dependent periodic fever		DOVES_relaxed.owl
MONDO:0008724	biolink:NamedThing	adducted thumbs-arthrogryposis syndrome, Christian type	A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983.	DOVES_relaxed.owl
MONDO:0008823	biolink:NamedThing	arthrogryposis multiplex congenita 2, neurogenic type	Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.	DOVES_relaxed.owl
MONDO:0008824	biolink:NamedThing	fetal akinesia deformation sequence	Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.	DOVES_relaxed.owl
MONDO:0008825	biolink:NamedThing	arthrogryposis multiplex congenita-whistling face syndrome	Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.	DOVES_relaxed.owl
MONDO:0008826	biolink:NamedThing	arthrogryposis-hyperkeratosis syndrome, lethal form	Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.	DOVES_relaxed.owl
MONDO:0009679	biolink:NamedThing	arthrogryposis due to muscular dystrophy		DOVES_relaxed.owl
MONDO:0010959	biolink:NamedThing	van den Ende-Gupta syndrome	Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.	DOVES_relaxed.owl
MONDO:0012750	biolink:NamedThing	lethal arthrogryposis-anterior horn cell disease syndrome		DOVES_relaxed.owl
MONDO:0015241	biolink:NamedThing	arthrogryposis-like syndrome	Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.	DOVES_relaxed.owl
MONDO:0017049	biolink:NamedThing	hypomyelination neuropathy-arthrogryposis syndrome	Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.	DOVES_relaxed.owl
MONDO:0017892	biolink:NamedThing	autosomal recessive myogenic arthrogryposis multiplex congenita	Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.	DOVES_relaxed.owl
MONDO:0025445	biolink:NamedThing	Wieacker-Wolff syndrome (spectrum)		DOVES_relaxed.owl
MONDO:0030281	biolink:NamedThing	arthrogryposis multiplex congenita 6		DOVES_relaxed.owl
MONDO:0032778	biolink:NamedThing	arthrogryposis multiplex congenita 3, myogenic type		DOVES_relaxed.owl
MONDO:0032903	biolink:NamedThing	arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum		DOVES_relaxed.owl
MONDO:0043143	biolink:NamedThing	microphthalmia microtia fetal akinesia		DOVES_relaxed.owl
MONDO:0044682	biolink:NamedThing	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome		DOVES_relaxed.owl
MONDO:0060486	biolink:NamedThing	arthrogryposis multiplex congenita 1, neurogenic, with myelin defect		DOVES_relaxed.owl
MONDO:0100218	biolink:NamedThing	arthrogryposis multiplex congenita 5		DOVES_relaxed.owl
MONDO:0005144	biolink:NamedThing	familial amyotrophic lateral sclerosis	An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0008408	biolink:NamedThing	scapuloperoneal spinal muscular atrophy, autosomal dominant		DOVES_relaxed.owl
MONDO:0008891	biolink:NamedThing	riboflavin transporter deficiency	A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.	DOVES_relaxed.owl
MONDO:0010735	biolink:NamedThing	Kennedy disease	Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.	DOVES_relaxed.owl
MONDO:0010869	biolink:NamedThing	motor neuron disease with dementia and ophthalmoplegia		DOVES_relaxed.owl
MONDO:0016759	biolink:NamedThing	pontocerebellar hypoplasia type 2	Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.	DOVES_relaxed.owl
MONDO:0018155	biolink:NamedThing	lateral sclerosis	Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.	DOVES_relaxed.owl
MONDO:0100227	biolink:NamedThing	ALS2-related motor neuron disease	Any motor neuron disease in which the cause of the disease is a mutation in the ALS2 gene.	DOVES_relaxed.owl
MONDO:0000210	biolink:NamedThing	thiopurine metabolic disease		DOVES_relaxed.owl
MONDO:0000214	biolink:NamedThing	hypermanganesemia with dystonia		DOVES_relaxed.owl
MONDO:0000816	biolink:NamedThing	abdominal obesity-metabolic syndrome		DOVES_relaxed.owl
MONDO:0002273	biolink:NamedThing	plasma protein metabolism disease	An inherited metabolic disorder that involves plasma protein metabolism malfunction.	DOVES_relaxed.owl
MONDO:0002561	biolink:NamedThing	lysosomal storage disease	A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.	DOVES_relaxed.owl
MONDO:0004689	biolink:NamedThing	inborn metal metabolism disorder	An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.	DOVES_relaxed.owl
MONDO:0004736	biolink:NamedThing	inborn disorder of amino acid metabolism	An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.	DOVES_relaxed.owl
MONDO:0005528	biolink:NamedThing	inborn vitamin metabolic disorder	An inherited metabolic disease that is has its basis in the disruption of vitamin metabolic process.	DOVES_relaxed.owl
MONDO:0007319	biolink:NamedThing	chondrocalcinosis 2	A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).	DOVES_relaxed.owl
MONDO:0008046	biolink:NamedThing	autosomal dominant myoglobinuria	Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.	DOVES_relaxed.owl
MONDO:0008369	biolink:NamedThing	proximal renal tubular acidosis	Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.	DOVES_relaxed.owl
MONDO:0009113	biolink:NamedThing	hemolytic anemia due to diphosphoglycerate mutase deficiency	A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.	DOVES_relaxed.owl
MONDO:0010142	biolink:NamedThing	hypothyroidism due to TSH receptor mutations	Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.	DOVES_relaxed.owl
MONDO:0010720	biolink:NamedThing	partial androgen insensitivity syndrome	Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.	DOVES_relaxed.owl
MONDO:0011268	biolink:NamedThing	renal tubular acidosis, distal, 3, with or without sensorineural hearing loss		DOVES_relaxed.owl
MONDO:0013534	biolink:NamedThing	apolipoprotein c-III deficiency		DOVES_relaxed.owl
MONDO:0013539	biolink:NamedThing	hypotonia-failure to thrive-microcephaly syndrome	Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.	DOVES_relaxed.owl
MONDO:0013601	biolink:NamedThing	gluthathione peroxidase deficiency		DOVES_relaxed.owl
MONDO:0015286	biolink:NamedThing	congenital disorder of glycosylation	Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.	DOVES_relaxed.owl
MONDO:0015967	biolink:NamedThing	monogenic diabetes	Diabetes mellitus that is caused by mutations in a single gene.	DOVES_relaxed.owl
MONDO:0016390	biolink:NamedThing	familial hypoparathyroidism	A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.	DOVES_relaxed.owl
MONDO:0017290	biolink:NamedThing	familial intrahepatic cholestasis	An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0017739	biolink:NamedThing	disorder of lysosomal-related organelles		DOVES_relaxed.owl
MONDO:0017754	biolink:NamedThing	inborn disorder of porphyrin metabolism	An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.	DOVES_relaxed.owl
MONDO:0017757	biolink:NamedThing	disorder of metabolite absorption and transport		DOVES_relaxed.owl
MONDO:0018458	biolink:NamedThing	familial hypocalciuric hypercalcemia	Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.	DOVES_relaxed.owl
MONDO:0018634	biolink:NamedThing	hereditary amyloidosis	Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.	DOVES_relaxed.owl
MONDO:0018891	biolink:NamedThing	familial tumoral calcinosis	Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.	DOVES_relaxed.owl
MONDO:0019189	biolink:NamedThing	inborn disorder of amino acid and other organic acid metabolism		DOVES_relaxed.owl
MONDO:0019214	biolink:NamedThing	inborn carbohydrate metabolic disorder	An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.	DOVES_relaxed.owl
MONDO:0019243	biolink:NamedThing	inborn disorder of energy metabolism	An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.	DOVES_relaxed.owl
MONDO:0019250	biolink:NamedThing	inborn disorder of biogenic amine metabolism and transport		DOVES_relaxed.owl
MONDO:0019254	biolink:NamedThing	inborn disorder of purine or pyrimidine metabolism		DOVES_relaxed.owl
MONDO:0019688	biolink:NamedThing	sulfation-related bone disorder		DOVES_relaxed.owl
MONDO:0020504	biolink:NamedThing	genetic recurrent myoglobinuria	Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.	DOVES_relaxed.owl
MONDO:0021190	biolink:NamedThing	DNA repair disease	A disease that has its basis in the disruption of DNA repair.	DOVES_relaxed.owl
MONDO:0022330	biolink:NamedThing	4-hydroxyphenylacetic aciduria		DOVES_relaxed.owl
MONDO:0022333	biolink:NamedThing	5-nucleotidase syndrome		DOVES_relaxed.owl
MONDO:0022468	biolink:NamedThing	antigen-peptide-transporter 2 deficiency	An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections.	DOVES_relaxed.owl
MONDO:0022481	biolink:NamedThing	APO A-i deficiency		DOVES_relaxed.owl
MONDO:0022655	biolink:NamedThing	cardiomyopathy hypogonadism metabolic anomalies		DOVES_relaxed.owl
MONDO:0022795	biolink:NamedThing	deficiency of coenzyme q cytochrome c reductase		DOVES_relaxed.owl
MONDO:0022949	biolink:NamedThing	defective apolipoprotein b-100		DOVES_relaxed.owl
MONDO:0022953	biolink:NamedThing	delta-1-pyrroline-5-carboxylate dehydrogenase deficiency	A disease that has its basis in the disruption of 1-pyrroline-5-carboxylate dehydrogenase activity.	DOVES_relaxed.owl
MONDO:0030982	biolink:NamedThing	sulfide quinone oxidoreductase deficiency		DOVES_relaxed.owl
MONDO:0031376	biolink:NamedThing	congenital disorder of deglycosylation		DOVES_relaxed.owl
MONDO:0032766	biolink:NamedThing	hypoalphalipoproteinemia, primary, 2		DOVES_relaxed.owl
MONDO:0032773	biolink:NamedThing	uridine-cytidineuria		DOVES_relaxed.owl
MONDO:0043077	biolink:NamedThing	weinstein kliman scully syndrome		DOVES_relaxed.owl
MONDO:0043875	biolink:NamedThing	tumor lysis syndrome	A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death.	DOVES_relaxed.owl
MONDO:0045010	biolink:NamedThing	glycoprotein metabolism disease	A disease that has its basis in the disruption of glycoprotein metabolic process.	DOVES_relaxed.owl
MONDO:0045046	biolink:NamedThing	inherited thyroid metabolism disease	An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process.	DOVES_relaxed.owl
MONDO:0100280	biolink:NamedThing	Waldenstrom macroglobulinemia		DOVES_relaxed.owl
MONDO:0100365	biolink:NamedThing	mucopolysaccharidosis or mucopolysaccharidosis-like disorder	Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder.	DOVES_relaxed.owl
MONDO:0100473	biolink:NamedThing	disorder of peptide and amine metabolism	An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process.	DOVES_relaxed.owl
MONDO:0800124	biolink:NamedThing	Lane Hamilton syndrome	A rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease, and is typically seen in children under the age of 15.	DOVES_relaxed.owl
MONDO:0000211	biolink:NamedThing	striatal degeneration, autosomal dominant	An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.	DOVES_relaxed.owl
MONDO:0010080	biolink:NamedThing	familial infantile bilateral striatal necrosis	The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.	DOVES_relaxed.owl
MONDO:0014889	biolink:NamedThing	striatonigral degeneration, childhood-onset		DOVES_relaxed.owl
MONDO:0001566	biolink:NamedThing	hypercalcemia disease	Abnormally high concentration of calcium in the peripheral blood.	DOVES_relaxed.owl
MONDO:0043455	biolink:NamedThing	humoral hypercalcemia of malignancy	Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function.	DOVES_relaxed.owl
MONDO:0005151	biolink:NamedThing	endocrine system disorder	A disease involving the endocrine system.	DOVES_relaxed.owl
MONDO:0000569	biolink:NamedThing	autoimmune disorder of endocrine system	A hypersensitivity reaction type II disease that involves the endocrine system.	DOVES_relaxed.owl
MONDO:0001223	biolink:NamedThing	parathyroid gland disorder	A disease involving the parathyroid gland.	DOVES_relaxed.owl
MONDO:0002082	biolink:NamedThing	endocrine gland neoplasm	A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma.	DOVES_relaxed.owl
MONDO:0002356	biolink:NamedThing	pancreas disorder	A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms.	DOVES_relaxed.owl
MONDO:0003240	biolink:NamedThing	thyroid gland disorder	A disease involving the thyroid gland.	DOVES_relaxed.owl
MONDO:0003393	biolink:NamedThing	thymus gland disorder	A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma.	DOVES_relaxed.owl
MONDO:0005154	biolink:NamedThing	liver disorder	A disease involving the liver.	DOVES_relaxed.owl
MONDO:0005495	biolink:NamedThing	adrenal gland disorder	A disease involving the adrenal gland.	DOVES_relaxed.owl
MONDO:0005803	biolink:NamedThing	hyperinsulinemic hypoglycemia	An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11.	DOVES_relaxed.owl
MONDO:0006322	biolink:NamedThing	non-neoplastic bile duct disorder	A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia.	DOVES_relaxed.owl
MONDO:0006743	biolink:NamedThing	endocrine tuberculosis	Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis.	DOVES_relaxed.owl
MONDO:0008915	biolink:NamedThing	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).	DOVES_relaxed.owl
MONDO:0009416	biolink:NamedThing	hypoinsulinemic hypoglycemia and body hemihypertrophy		DOVES_relaxed.owl
MONDO:0013673	biolink:NamedThing	Wolfram-like syndrome	Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.	DOVES_relaxed.owl
MONDO:0015126	biolink:NamedThing	polyendocrinopathy		DOVES_relaxed.owl
MONDO:0015127	biolink:NamedThing	pituitary deficiency		DOVES_relaxed.owl
MONDO:0015514	biolink:NamedThing	genetic endocrine growth disease		DOVES_relaxed.owl
MONDO:0015663	biolink:NamedThing	diencephalic syndrome	Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors.	DOVES_relaxed.owl
MONDO:0016554	biolink:NamedThing	neonatal iodine exposure	A rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates.	DOVES_relaxed.owl
MONDO:0017322	biolink:NamedThing	disorders of vitamin D metabolism		DOVES_relaxed.owl
MONDO:0017581	biolink:NamedThing	familial infantile gigantism		DOVES_relaxed.owl
MONDO:0017808	biolink:NamedThing	duplication of the pituitary gland		DOVES_relaxed.owl
MONDO:0018124	biolink:NamedThing	Oncogenic osteomalacia	Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed.	DOVES_relaxed.owl
MONDO:0018620	biolink:NamedThing	hypothalamic adipsic hypernatraemia syndrome		DOVES_relaxed.owl
MONDO:0019155	biolink:NamedThing	Leydig cell hypoplasia	A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.	DOVES_relaxed.owl
MONDO:0100070	biolink:NamedThing	neuroendocrine disorder	A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli.	DOVES_relaxed.owl
MONDO:0800378	biolink:NamedThing	17,20-lyase deficiency, isolated		DOVES_relaxed.owl
MONDO:0800379	biolink:NamedThing	17-alpha-hydroxylase/17,20-lyase deficiency, combined complete		DOVES_relaxed.owl
MONDO:0800380	biolink:NamedThing	17-alpha-hydroxylase/17,20-lyase deficiency, combined partial		DOVES_relaxed.owl
MONDO:0019743	biolink:NamedThing	nephropathy secondary to a storage or other metabolic disease		DOVES_relaxed.owl
MONDO:0002413	biolink:NamedThing	glycogen storage disease I	Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.	DOVES_relaxed.owl
MONDO:0002474	biolink:NamedThing	primary hyperoxaluria	A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria.	DOVES_relaxed.owl
MONDO:0009066	biolink:NamedThing	juvenile nephropathic cystinosis	Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.	DOVES_relaxed.owl
MONDO:0009249	biolink:NamedThing	hereditary fructose intolerance	Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.	DOVES_relaxed.owl
MONDO:0009853	biolink:NamedThing	Imerslund-Grasbeck syndrome	Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.	DOVES_relaxed.owl
MONDO:0010395	biolink:NamedThing	phosphoribosylpyrophosphate synthetase superactivity	Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).	DOVES_relaxed.owl
MONDO:0011342	biolink:NamedThing	SLC35A1-congenital disorder of glycosylation	SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.	DOVES_relaxed.owl
MONDO:0011969	biolink:NamedThing	ALG8-congenital disorder of glycosylation	A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.	DOVES_relaxed.owl
MONDO:0012786	biolink:NamedThing	juvenile cataract-microcornea-renal glucosuria syndrome	Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.	DOVES_relaxed.owl
MONDO:0013282	biolink:NamedThing	alpha 1-antitrypsin deficiency	Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.	DOVES_relaxed.owl
MONDO:0013869	biolink:NamedThing	adenine phosphoribosyltransferase deficiency	Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.	DOVES_relaxed.owl
MONDO:0016088	biolink:NamedThing	hypoxanthine-guanine phosphoribosyltransferase deficiency	Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.	DOVES_relaxed.owl
MONDO:0017214	biolink:NamedThing	vitamin B12-responsive methylmalonic acidemia	Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).	DOVES_relaxed.owl
MONDO:0018106	biolink:NamedThing	hereditary xanthinuria	Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.	DOVES_relaxed.owl
MONDO:0018116	biolink:NamedThing	galactosemia	Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.	DOVES_relaxed.owl
MONDO:0018467	biolink:NamedThing	nephropathic infantile cystinosis	Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.	DOVES_relaxed.owl
MONDO:0018999	biolink:NamedThing	LCAT deficiency	LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.	DOVES_relaxed.owl
MONDO:0000608	biolink:NamedThing	familial juvenile hyperuricemic nephropathy		DOVES_relaxed.owl
MONDO:0001549	biolink:NamedThing	hemolytic-uremic syndrome	Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia.	DOVES_relaxed.owl
MONDO:0002350	biolink:NamedThing	familial nephrotic syndrome	An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0003008	biolink:NamedThing	hereditary renal cell carcinoma	An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0003321	biolink:NamedThing	hereditary Wilms tumor	Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)	DOVES_relaxed.owl
MONDO:0003824	biolink:NamedThing	hereditary kidney oncocytoma	An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome.	DOVES_relaxed.owl
MONDO:0005334	biolink:NamedThing	hereditary nephritis	A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane.	DOVES_relaxed.owl
MONDO:0005363	biolink:NamedThing	focal segmental glomerulosclerosis	A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.	DOVES_relaxed.owl
MONDO:0007099	biolink:NamedThing	familial visceral amyloidosis		DOVES_relaxed.owl
MONDO:0007450	biolink:NamedThing	neurohypophyseal diabetes insipidus	Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.	DOVES_relaxed.owl
MONDO:0007671	biolink:NamedThing	fibronectin glomerulopathy	A hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.	DOVES_relaxed.owl
MONDO:0008633	biolink:NamedThing	Muckle-Wells syndrome	Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).	DOVES_relaxed.owl
MONDO:0008641	biolink:NamedThing	retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.	DOVES_relaxed.owl
MONDO:0009515	biolink:NamedThing	Norum disease	A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.	DOVES_relaxed.owl
MONDO:0009609	biolink:NamedThing	methylcobalamin deficiency type cblG	Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.	DOVES_relaxed.owl
MONDO:0009970	biolink:NamedThing	renal tubular dysgenesis of genetic origin	An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0010122	biolink:NamedThing	congenital thrombotic thrombocytopenic purpura	Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.	DOVES_relaxed.owl
MONDO:0011399	biolink:NamedThing	alpha thalassemia	Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.	DOVES_relaxed.owl
MONDO:0012190	biolink:NamedThing	nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome		DOVES_relaxed.owl
MONDO:0013743	biolink:NamedThing	autosomal systemic lupus erythematosus type 16	An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3.	DOVES_relaxed.owl
MONDO:0013881	biolink:NamedThing	congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.	DOVES_relaxed.owl
MONDO:0015512	biolink:NamedThing	genetic hypertension	An instance of hypertension that is caused by a modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0015962	biolink:NamedThing	inherited renal tubular disease		DOVES_relaxed.owl
MONDO:0018088	biolink:NamedThing	familial Mediterranean fever	Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.	DOVES_relaxed.owl
MONDO:0018470	biolink:NamedThing	renal agenesis	Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s).	DOVES_relaxed.owl
MONDO:0019719	biolink:NamedThing	congenital anomaly of kidney and urinary tract	A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.	DOVES_relaxed.owl
MONDO:0019741	biolink:NamedThing	familial cystic renal disease	An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0022409	biolink:NamedThing	nephropathy-associated ciliopathy		DOVES_relaxed.owl
MONDO:0024633	biolink:NamedThing	hypertensive nephropathy	Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria.	DOVES_relaxed.owl
MONDO:0007179	biolink:NamedThing	autoimmune disease	A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).	DOVES_relaxed.owl
MONDO:0000586	biolink:NamedThing	autoimmune disorder of exocrine system	A hypersensitivity reaction type II disease that involves the exocrine system.	DOVES_relaxed.owl
MONDO:0000587	biolink:NamedThing	autoimmune disease of ear, nose and throat	An autoimmune form of otorhinolaryngologic disease.	DOVES_relaxed.owl
MONDO:0000588	biolink:NamedThing	autoimmune disorder of gastrointestinal tract	A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system.	DOVES_relaxed.owl
MONDO:0000589	biolink:NamedThing	autoimmune disorder of musculoskeletal system	A hypersensitivity reaction type II disease that involves the musculoskeletal system.	DOVES_relaxed.owl
MONDO:0000602	biolink:NamedThing	autoimmune disorder of blood	A hypersensitivity reaction type II disease that involves the blood.	DOVES_relaxed.owl
MONDO:0000603	biolink:NamedThing	autoimmune disorder of cardiovascular system	A hypersensitivity reaction type II disease that involves the cardiovascular system.	DOVES_relaxed.owl
MONDO:0001553	biolink:NamedThing	phacolytic glaucoma	An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens.	DOVES_relaxed.owl
MONDO:0001629	biolink:NamedThing	Jaccoud syndrome		DOVES_relaxed.owl
MONDO:0002459	biolink:NamedThing	type IV hypersensitivity disease	A disease that has its basis in the disruption of type IV hypersensitivity.	DOVES_relaxed.owl
MONDO:0002977	biolink:NamedThing	autoimmune disorder of the nervous system	A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis.	DOVES_relaxed.owl
MONDO:0004586	biolink:NamedThing	rheumatoid lung disease	Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis.	DOVES_relaxed.owl
MONDO:0004670	biolink:NamedThing	lupus erythematosus	An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus.	DOVES_relaxed.owl
MONDO:0005435	biolink:NamedThing	anti-neutrophil antibody associated vasculitis	Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.	DOVES_relaxed.owl
MONDO:0006704	biolink:NamedThing	CNS demyelinating autoimmune disease	Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens.	DOVES_relaxed.owl
MONDO:0007004	biolink:NamedThing	type III hypersensitivity disease	Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa.	DOVES_relaxed.owl
MONDO:0008523	biolink:NamedThing	Blau syndrome	Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.	DOVES_relaxed.owl
MONDO:0008661	biolink:NamedThing	vitiligo	Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.	DOVES_relaxed.owl
MONDO:0009303	biolink:NamedThing	anti-glomerular basement membrane disease	An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide.	DOVES_relaxed.owl
MONDO:0012579	biolink:NamedThing	autoimmune pulmonary alveolar proteinosis	Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS).	DOVES_relaxed.owl
MONDO:0016663	biolink:NamedThing	overlapping connective tissue disease		DOVES_relaxed.owl
MONDO:0017286	biolink:NamedThing	tempi syndrome	TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.	DOVES_relaxed.owl
MONDO:0017287	biolink:NamedThing	IgG4-related disease	A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased.	DOVES_relaxed.owl
MONDO:0017943	biolink:NamedThing	autoerythrocyte sensitization syndrome		DOVES_relaxed.owl
MONDO:0018356	biolink:NamedThing	secondary neonatal autoimmune disease		DOVES_relaxed.owl
MONDO:0018702	biolink:NamedThing	Castleman-Kojima disease	A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly	DOVES_relaxed.owl
MONDO:0018756	biolink:NamedThing	euthyroid Graves orbitopathy		DOVES_relaxed.owl
MONDO:0018830	biolink:NamedThing	Kimura disease	Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.	DOVES_relaxed.owl
MONDO:0019098	biolink:NamedThing	autoimmune thrombocytopenia	An autoimmune form of thrombocytopenia.	DOVES_relaxed.owl
MONDO:0019337	biolink:NamedThing	autoimmune bullous skin disease	An autoimmune disease characterized by blisters on the skin.	DOVES_relaxed.owl
MONDO:0019340	biolink:NamedThing	scleroderma	Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc).	DOVES_relaxed.owl
MONDO:0019390	biolink:NamedThing	Susac syndrome	Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear.	DOVES_relaxed.owl
MONDO:0019527	biolink:NamedThing	undifferentiated connective tissue syndrome	An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases.	DOVES_relaxed.owl
MONDO:0021952	biolink:NamedThing	autoimmune progesterone dermatitis	Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries.	DOVES_relaxed.owl
MONDO:0025512	biolink:NamedThing	type II hypersensitivity reaction disease	A disease that has its basis in the disruption of type II hypersensitivity.	DOVES_relaxed.owl
MONDO:0025513	biolink:NamedThing	autoimmune urticaria	An autoimmune form of urticaria (disease).	DOVES_relaxed.owl
MONDO:0030700	biolink:NamedThing	autoimmune glomerulonephritis	An autoimmune form of glomerulonephritis (disease).	DOVES_relaxed.owl
MONDO:0800138	biolink:NamedThing	multisystem autoimmune disease due to IKAROS gain of function	An autoimmune disease caused by a loss-of-function variation in the IKZF1/IKAROSgene. Leukocytes of patients exhibited specific defects including impaired IL-2 production by T cells, T helper (TH) skewing toward TH2, low numbers of regulatory T cells (Treg), eosinophilia, and abnormal PC proliferation.	DOVES_relaxed.owl
MONDO:0800144	biolink:NamedThing	autoimmune pulmonary disease due to PD-1 deficiency	An autoimmune disease that is characterized by a lack of PD-1 on patient peripheral blood mononuclear cells (PBMCs) and reduced IFN production in response to mycobacterial stimuli.	DOVES_relaxed.owl
MONDO:0850102	biolink:NamedThing	non-specific autoimmune supratentorial encephalitis with characteristic antibodies		DOVES_relaxed.owl
MONDO:0850103	biolink:NamedThing	non-specific autoimmune supratentorial encephalitis without characteristic antibodies		DOVES_relaxed.owl
MONDO:0850105	biolink:NamedThing	non-specific autoimmune brainstem encephalitis with characteristic antibodies		DOVES_relaxed.owl
MONDO:0850106	biolink:NamedThing	non-specific autoimmune brainstem encephalitis without characteristic antibodies		DOVES_relaxed.owl
MONDO:0850108	biolink:NamedThing	non-specific autoimmune cerebellar ataxia with characteristic antibodies		DOVES_relaxed.owl
MONDO:0850109	biolink:NamedThing	non-specific autoimmune cerebellar ataxia without characteristic antibodies		DOVES_relaxed.owl
MONDO:8000010	biolink:NamedThing	antiphospholipid syndrome	A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.	DOVES_relaxed.owl
MONDO:0001027	biolink:NamedThing	gonococcal seminal vesiculitis	A gonorrhea that involves the seminal vesicle.	DOVES_relaxed.owl
MONDO:0001025	biolink:NamedThing	seminal vesicle chronic gonorrhea	Chronic form of gonococcal seminal vesiculitis.	DOVES_relaxed.owl
MONDO:0000224	biolink:NamedThing	acquired carbohydrate metabolism disease	An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism.	DOVES_relaxed.owl
MONDO:0008295	biolink:NamedThing	sporadic porphyria cutanea tarda	An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0019438	biolink:NamedThing	AL amyloidosis	AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.	DOVES_relaxed.owl
MONDO:0019439	biolink:NamedThing	AA amyloidosis	Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.	DOVES_relaxed.owl
MONDO:0020089	biolink:NamedThing	acquired lipodystrophy	An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0021162	biolink:NamedThing	carotenemia		DOVES_relaxed.owl
MONDO:0021180	biolink:NamedThing	acquired xanthinuria	Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy.	DOVES_relaxed.owl
MONDO:0024301	biolink:NamedThing	acquired mineral metabolism disease	An instance of mineral metabolism disease that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0024305	biolink:NamedThing	acquired hyperprolactinemia	An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0024306	biolink:NamedThing	acquired lactic acidosis	An instance of lactic acidosis that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0100244	biolink:NamedThing	paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.	DOVES_relaxed.owl
MONDO:0004905	biolink:NamedThing	intestinal disaccharidase deficiency	Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age.	DOVES_relaxed.owl
MONDO:0009412	biolink:NamedThing	scurvy	A condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur.	DOVES_relaxed.owl
MONDO:0037807	biolink:NamedThing	glycerol metabolism disease	A disease that has its basis in the disruption of glycerol metabolic process.	DOVES_relaxed.owl
MONDO:0045015	biolink:NamedThing	carbohydrate transport disease	A disease that has its basis in the disruption of carbohydrate transport.	DOVES_relaxed.owl
MONDO:0000225	biolink:NamedThing	human monocytic ehrlichiosis	A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages.	DOVES_relaxed.owl
MONDO:0004805	biolink:NamedThing	leukocyte disorder	A disease involving leukocytes.	DOVES_relaxed.owl
MONDO:0002211	biolink:NamedThing	B cell deficiency	A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient.	DOVES_relaxed.owl
MONDO:0003785	biolink:NamedThing	leukopenia	A laboratory test result indicating a decreased number of white blood cells in the peripheral blood.	DOVES_relaxed.owl
MONDO:0004095	biolink:NamedThing	B-cell neoplasm	A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.	DOVES_relaxed.owl
MONDO:0004380	biolink:NamedThing	dendritic cell sarcoma	A sarcoma that involves the dendritic cell.	DOVES_relaxed.owl
MONDO:0005118	biolink:NamedThing	human granulocytic ehrlichiosis	A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex.	DOVES_relaxed.owl
MONDO:0005525	biolink:NamedThing	T-cell leukemia	A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood.	DOVES_relaxed.owl
MONDO:0005910	biolink:NamedThing	phagocyte bactericidal dysfunction	Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas.	DOVES_relaxed.owl
MONDO:0006188	biolink:NamedThing	EBV-positive T-cell lymphoproliferative disorder of childhood	An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma.	DOVES_relaxed.owl
MONDO:0006418	biolink:NamedThing	small intestinal enteropathy-associated T-cell lymphoma	An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate.	DOVES_relaxed.owl
MONDO:0006673	biolink:NamedThing	pituitary gland basophil adenoma	An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes.	DOVES_relaxed.owl
MONDO:0006831	biolink:NamedThing	leukostasis	A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates.	DOVES_relaxed.owl
MONDO:0007950	biolink:NamedThing	mastocytosis	A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.	DOVES_relaxed.owl
MONDO:0008092	biolink:NamedThing	hereditary neutrophilia	A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34.	DOVES_relaxed.owl
MONDO:0016974	biolink:NamedThing	thymoma type B	An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma.	DOVES_relaxed.owl
MONDO:0017364	biolink:NamedThing	POEMS syndrome	POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.	DOVES_relaxed.owl
MONDO:0018310	biolink:NamedThing	Langerhans cell histiocytosis	Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.	DOVES_relaxed.owl
MONDO:0019470	biolink:NamedThing	aggressive NK-cell leukemia	A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen.	DOVES_relaxed.owl
MONDO:0019475	biolink:NamedThing	subcutaneous panniculitis-like T-cell lymphoma	Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue.	DOVES_relaxed.owl
MONDO:0044972	biolink:NamedThing	eosinophil disorder	A disease or disorder that involves the eosinophil.	DOVES_relaxed.owl
MONDO:0100004	biolink:NamedThing	mast cell activation syndrome	A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS).	DOVES_relaxed.owl
MONDO:0016003	biolink:NamedThing	ehrlichiosis	Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE).	DOVES_relaxed.owl
MONDO:0000332	biolink:NamedThing	sennetsu fever	An ehlrichiosis caused by Neorickettsia sennetsu.	DOVES_relaxed.owl
MONDO:0000227	biolink:NamedThing	African tick-bite fever		DOVES_relaxed.owl
MONDO:0001195	biolink:NamedThing	spotted fever	A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia.	DOVES_relaxed.owl
MONDO:0000232	biolink:NamedThing	Flinders island spotted fever	A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy.	DOVES_relaxed.owl
MONDO:0000233	biolink:NamedThing	Japanese spotted fever	A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities.	DOVES_relaxed.owl
MONDO:0000234	biolink:NamedThing	Rickettsia parkeri spotted fever	A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash.	DOVES_relaxed.owl
MONDO:0000331	biolink:NamedThing	Rickettsia helvetica spotted fever	A disease caused by infection with Rickettsia helvetica.	DOVES_relaxed.owl
MONDO:0001118	biolink:NamedThing	Queensland tick typhus	A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy.	DOVES_relaxed.owl
MONDO:0001154	biolink:NamedThing	Siberian tick typhus	A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash.	DOVES_relaxed.owl
MONDO:0005677	biolink:NamedThing	Rickettsia conorii infectious disease		DOVES_relaxed.owl
MONDO:0019359	biolink:NamedThing	Rocky mountain spotted fever	Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline).	DOVES_relaxed.owl
MONDO:0019360	biolink:NamedThing	rickettsialpox		DOVES_relaxed.owl
MONDO:0019364	biolink:NamedThing	pseudotyphus of California	Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.	DOVES_relaxed.owl
MONDO:0000229	biolink:NamedThing	Indian tick typhus	An infectious disease caused by infection with rickettsia conorii subsp. coronorii.	DOVES_relaxed.owl
MONDO:0000230	biolink:NamedThing	Israeli tick typhus	An infectious disease caused by infection with rickettsia conorii subsp. israelensis.	DOVES_relaxed.owl
MONDO:0000231	biolink:NamedThing	Far eastern spotted fever		DOVES_relaxed.owl
MONDO:0024472	biolink:NamedThing	boutonneuse fever	An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii.	DOVES_relaxed.owl
MONDO:0024473	biolink:NamedThing	Astrakhan spotted fever	An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia.	DOVES_relaxed.owl
MONDO:0000236	biolink:NamedThing	oropharyngeal anthrax	A anthrax infection that involves the oropharynx.	DOVES_relaxed.owl
MONDO:0001701	biolink:NamedThing	gastrointestinal anthrax	An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.	DOVES_relaxed.owl
MONDO:0020592	biolink:NamedThing	disorder of pharynx	A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma.	DOVES_relaxed.owl
MONDO:0001039	biolink:NamedThing	tonsillitis	Inflammation of the tonsillar tissue.	DOVES_relaxed.owl
MONDO:0004821	biolink:NamedThing	nasopharyngeal disorder	A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma.	DOVES_relaxed.owl
MONDO:0005517	biolink:NamedThing	pharynx cancer	A primary or metastatic malignant neoplasm that affects the pharynx.	DOVES_relaxed.owl
MONDO:0005753	biolink:NamedThing	epiglottitis	Inflammation of the epiglottis.	DOVES_relaxed.owl
MONDO:0005906	biolink:NamedThing	peritonsillar abscess	An abscess that develops in the space surrounding one or both palatine tonsils.	DOVES_relaxed.owl
MONDO:0017991	biolink:NamedThing	Takayasu arteritis	A rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.	DOVES_relaxed.owl
MONDO:0021250	biolink:NamedThing	tonsil neoplasm	A neoplasm (disease) that involves the tonsil.	DOVES_relaxed.owl
MONDO:0021358	biolink:NamedThing	neoplasm of hypopharynx	A neoplasm (disease) that involves the hypopharynx.	DOVES_relaxed.owl
MONDO:0021364	biolink:NamedThing	neoplasm of oropharynx	A neoplasm (disease) that involves the oropharynx.	DOVES_relaxed.owl
MONDO:0043424	biolink:NamedThing	digestive system infectious disorder	A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system.	DOVES_relaxed.owl
MONDO:0000288	biolink:NamedThing	polycystic echinococcosis		DOVES_relaxed.owl
MONDO:0000916	biolink:NamedThing	intestinal infectious disease	An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa.	DOVES_relaxed.owl
MONDO:0001649	biolink:NamedThing	fungal esophagitis	Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing.	DOVES_relaxed.owl
MONDO:0001832	biolink:NamedThing	bacterial esophagitis	An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations.	DOVES_relaxed.owl
MONDO:0002270	biolink:NamedThing	viral gastritis	Inflammation of the stomach resulting from viral infection.	DOVES_relaxed.owl
MONDO:0002842	biolink:NamedThing	bacterial gastritis	Gastritis resulting from bacteria.	DOVES_relaxed.owl
MONDO:0002843	biolink:NamedThing	fungal gastritis	Gastritis resulting from fungi.	DOVES_relaxed.owl
MONDO:0003846	biolink:NamedThing	viral esophagitis	Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning.	DOVES_relaxed.owl
MONDO:0004131	biolink:NamedThing	anal verrucous carcinoma	A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma.	DOVES_relaxed.owl
MONDO:0005116	biolink:NamedThing	Whipple disease	A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system.	DOVES_relaxed.owl
MONDO:0005136	biolink:NamedThing	malaria	Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired.	DOVES_relaxed.owl
MONDO:0005195	biolink:NamedThing	septic peritonitis	Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis.	DOVES_relaxed.owl
MONDO:0005688	biolink:NamedThing	campylobacteriosis	Infections with bacteria of the genus campylobacter.	DOVES_relaxed.owl
MONDO:0005768	biolink:NamedThing	gastrointestinal tuberculosis	Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area.	DOVES_relaxed.owl
MONDO:0005950	biolink:NamedThing	Salmonella gastroenteritis	Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply.	DOVES_relaxed.owl
MONDO:0006011	biolink:NamedThing	viral hepatitis	An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis.	DOVES_relaxed.owl
MONDO:0006039	biolink:NamedThing	infectious colitis	A viral or bacterial infectious process affecting the large intestine.	DOVES_relaxed.owl
MONDO:0024270	biolink:NamedThing	parasitic intestinal disorder	Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS.	DOVES_relaxed.owl
MONDO:0024459	biolink:NamedThing	Aeromonas hydrophila intestinal disease		DOVES_relaxed.owl
MONDO:0024659	biolink:NamedThing	colorectal Kaposi sarcoma	A Kaposi sarcoma that arises from the colon or rectum.	DOVES_relaxed.owl
MONDO:0400000	biolink:NamedThing	small intestinal bacterial overgrowth	The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity.	DOVES_relaxed.owl
MONDO:0700051	biolink:NamedThing	liver abscess (disease)	An abscess that involves the liver.	DOVES_relaxed.owl
MONDO:0000239	biolink:NamedThing	adiaspiromycosis	Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens).	DOVES_relaxed.owl
MONDO:0000308	biolink:NamedThing	primary systemic mycosis	A systemic mycosis that arises from infection in an immunologically normal host.	DOVES_relaxed.owl
MONDO:0001215	biolink:NamedThing	allescheriosis	A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses.	DOVES_relaxed.owl
MONDO:0005672	biolink:NamedThing	blastomycosis	Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant.	DOVES_relaxed.owl
MONDO:0005706	biolink:NamedThing	coccidioidomycosis	A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease.	DOVES_relaxed.owl
MONDO:0005894	biolink:NamedThing	paracoccidioidomycosis	A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones.	DOVES_relaxed.owl
MONDO:0018312	biolink:NamedThing	histoplasmosis	A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated.	DOVES_relaxed.owl
MONDO:0005766	biolink:NamedThing	fungal lung infectious disease	Pulmonary diseases caused by fungal infections, usually through hematogenous spread.	DOVES_relaxed.owl
MONDO:0000266	biolink:NamedThing	pulmonary aspergilloma	A aspergillosis that involves the lung.	DOVES_relaxed.owl
MONDO:0004549	biolink:NamedThing	cork-handlers' disease	An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia.	DOVES_relaxed.owl
MONDO:0004584	biolink:NamedThing	maple bark strippers' lung		DOVES_relaxed.owl
MONDO:0019121	biolink:NamedThing	pneumocystosis	Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.	DOVES_relaxed.owl
MONDO:0000240	biolink:NamedThing	invasive aspergillosis	An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.	DOVES_relaxed.owl
MONDO:0002266	biolink:NamedThing	malt worker's lung	An extrinsic allergic alveolitis caused by infection with Aspergillus.	DOVES_relaxed.owl
MONDO:0000241	biolink:NamedThing	Keshan disease	A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus.	DOVES_relaxed.owl
MONDO:0004994	biolink:NamedThing	cardiomyopathy	A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.	DOVES_relaxed.owl
MONDO:0000591	biolink:NamedThing	intrinsic cardiomyopathy	A cardiomyopathy that is due to abnormalities in heart muscle cells.	DOVES_relaxed.owl
MONDO:0002824	biolink:NamedThing	extrinsic cardiomyopathy	A cardiomyopathy that is not due to abnormalities in heart muscle cells.	DOVES_relaxed.owl
MONDO:0005110	biolink:NamedThing	idiopathic cardiomyopathy	A disease of the heart muscle or myocardium proper whose cause is unknown.	DOVES_relaxed.owl
MONDO:0005418	biolink:NamedThing	non-compaction cardiomyopathy	Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.	DOVES_relaxed.owl
MONDO:0018084	biolink:NamedThing	Uhl anomaly	Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.	DOVES_relaxed.owl
MONDO:0019018	biolink:NamedThing	Tako-tsubo cardiomyopathy	Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers.	DOVES_relaxed.owl
MONDO:0022653	biolink:NamedThing	cardiomyopathy due to anthracyclines		DOVES_relaxed.owl
MONDO:0023006	biolink:NamedThing	doxorubicin induced cardiomyopathy		DOVES_relaxed.owl
MONDO:0030701	biolink:NamedThing	autoimmune cardiomyopathy	An autoimmune form of cardiomyopathy.	DOVES_relaxed.owl
MONDO:0005721	biolink:NamedThing	coxsackievirus infectious disease	A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis.	DOVES_relaxed.owl
MONDO:0005779	biolink:NamedThing	hand, foot and mouth disease	A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks.	DOVES_relaxed.owl
MONDO:0006873	biolink:NamedThing	nutritional deficiency disease	A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)	DOVES_relaxed.owl
MONDO:0001296	biolink:NamedThing	acquired night blindness	An instance of night blindness that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0001371	biolink:NamedThing	protein-energy malnutrition	A nutritional deficit that is caused by inadequate protein or calorie intake.	DOVES_relaxed.owl
MONDO:0001860	biolink:NamedThing	folic acid deficiency anemia		DOVES_relaxed.owl
MONDO:0004573	biolink:NamedThing	ariboflavinosis	A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0004575	biolink:NamedThing	choline deficiency disease	A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)	DOVES_relaxed.owl
MONDO:0006742	biolink:NamedThing	endemic goiter	Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption.	DOVES_relaxed.owl
MONDO:0006844	biolink:NamedThing	magnesium deficiency	A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)	DOVES_relaxed.owl
MONDO:0006919	biolink:NamedThing	potassium deficiency	A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)	DOVES_relaxed.owl
MONDO:0010198	biolink:NamedThing	Wernicke-Korsakoff syndrome	Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed.	DOVES_relaxed.owl
MONDO:0019975	biolink:NamedThing	pellagra	Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.	DOVES_relaxed.owl
MONDO:0024298	biolink:NamedThing	vitamin deficiency disorder	A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency.	DOVES_relaxed.owl
MONDO:0000242	biolink:NamedThing	tinea barbae	A dermatophytosis that involves the beard.	DOVES_relaxed.owl
MONDO:0004678	biolink:NamedThing	dermatophytosis	A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area.	DOVES_relaxed.owl
MONDO:0000243	biolink:NamedThing	ectothrix infectious disease	A dermatophyte infection of the hair that infects the hair surface.	DOVES_relaxed.owl
MONDO:0000244	biolink:NamedThing	endothrix infectious disease	A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell.	DOVES_relaxed.owl
MONDO:0001405	biolink:NamedThing	dermatophytosis of groin and perianal area	Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area.	DOVES_relaxed.owl
MONDO:0001461	biolink:NamedThing	tinea corporis	A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin.	DOVES_relaxed.owl
MONDO:0001628	biolink:NamedThing	tinea unguium	A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds.	DOVES_relaxed.owl
MONDO:0001698	biolink:NamedThing	tinea profunda	A dermatophytosis that involves the deep dermal layers.	DOVES_relaxed.owl
MONDO:0001699	biolink:NamedThing	tinea manuum	A dermatophytosis that involves the hands.	DOVES_relaxed.owl
MONDO:0002967	biolink:NamedThing	dermatophytosis of scalp or beard	Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area.	DOVES_relaxed.owl
MONDO:0005984	biolink:NamedThing	tinea pedis	Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum.	DOVES_relaxed.owl
MONDO:0020709	biolink:NamedThing	Majocchi granuloma	An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities.	DOVES_relaxed.owl
MONDO:0000253	biolink:NamedThing	piedra	Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species.	DOVES_relaxed.owl
MONDO:0001827	biolink:NamedThing	white piedra	A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts.	DOVES_relaxed.owl
MONDO:0005669	biolink:NamedThing	black piedra	A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft.	DOVES_relaxed.owl
MONDO:0000245	biolink:NamedThing	tinea imbricata	A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.	DOVES_relaxed.owl
MONDO:0000248	biolink:NamedThing	dengue shock syndrome	A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.	DOVES_relaxed.owl
MONDO:0005358	biolink:NamedThing	Dengue hemorrhagic fever	A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death.	DOVES_relaxed.owl
MONDO:0000249	biolink:NamedThing	secretory diarrhea	Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.	DOVES_relaxed.owl
MONDO:0001673	biolink:NamedThing	diarrheal disease	The condition of having at least three loose or liquid bowel movements each day.	DOVES_relaxed.owl
MONDO:0000251	biolink:NamedThing	diarrheal disease secondary to altered bowel motility	A diarrhea that results from either increased or decreased motility in the bowel.	DOVES_relaxed.owl
MONDO:0000252	biolink:NamedThing	inflammatory diarrhea	An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa.	DOVES_relaxed.owl
MONDO:0001517	biolink:NamedThing	dysentery	Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration.	DOVES_relaxed.owl
MONDO:0044751	biolink:NamedThing	chronic diarrheal disease	Chronic form of diarrheal disease.	DOVES_relaxed.owl
MONDO:0045030	biolink:NamedThing	non-infectious diarrheal disease		DOVES_relaxed.owl
MONDO:0000250	biolink:NamedThing	osmotic diarrheal disease	A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption.	DOVES_relaxed.owl
MONDO:0000888	biolink:NamedThing	gastrointestinal mucositis	Inflammation of the mucous membranes lining the gastrointestinal tract.	DOVES_relaxed.owl
MONDO:0002269	biolink:NamedThing	gastroenteritis	An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting.	DOVES_relaxed.owl
MONDO:0001678	biolink:NamedThing	intestinal tuberculosis	A tuberculosis that involves the intestine.	DOVES_relaxed.owl
MONDO:0005292	biolink:NamedThing	colitis	Inflammation of the colon.	DOVES_relaxed.owl
MONDO:0005537	biolink:NamedThing	perianal Crohn disease	An Crohn disease involving a pathogenic inflammatory response in the anal canal.	DOVES_relaxed.owl
MONDO:0005649	biolink:NamedThing	appendicitis	Acute inflammation of the vermiform appendix.	DOVES_relaxed.owl
MONDO:0016129	biolink:NamedThing	eosinophilic gastroenteritis	Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.	DOVES_relaxed.owl
MONDO:0043579	biolink:NamedThing	enteritis	Inflammation of the small intestine.	DOVES_relaxed.owl
MONDO:0002917	biolink:NamedThing	disorder of pilosebaceous unit	A disease that involves the pilosebaceous unit.	DOVES_relaxed.owl
MONDO:0003413	biolink:NamedThing	hair follicle neoplasm	A benign or malignant neoplasm arising from the hair follicle.	DOVES_relaxed.owl
MONDO:0006607	biolink:NamedThing	sebaceous gland disorder	A disease involving the sebaceous gland.	DOVES_relaxed.owl
MONDO:0019278	biolink:NamedThing	hair anomaly		DOVES_relaxed.owl
MONDO:0019280	biolink:NamedThing	hypertrichosis	Excessive hair growth anywhere on the body.	DOVES_relaxed.owl
MONDO:0023543	biolink:NamedThing	Katsantoni-Papadakou-Lagoyanni syndrome		DOVES_relaxed.owl
MONDO:0024268	biolink:NamedThing	superficial mycosis	A mycosis that is limited to the stratum corneum and essentially elicits no inflammation.	DOVES_relaxed.owl
MONDO:0004677	biolink:NamedThing	tinea nigra	A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions.	DOVES_relaxed.owl
MONDO:0005915	biolink:NamedThing	pityriasis versicolor	A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition.	DOVES_relaxed.owl
MONDO:0024481	biolink:NamedThing	skin appendage disorder	A disease that involves the cutaneous appendage.	DOVES_relaxed.owl
MONDO:0002297	biolink:NamedThing	epidermal appendage tumor	A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.	DOVES_relaxed.owl
MONDO:0019277	biolink:NamedThing	epidermal appendage anomaly		DOVES_relaxed.owl
MONDO:0000254	biolink:NamedThing	cutaneous mycosis	A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis.	DOVES_relaxed.owl
MONDO:0002041	biolink:NamedThing	fungal infectious disease	An infection caused by a fungus.	DOVES_relaxed.owl
MONDO:0000256	biolink:NamedThing	systemic mycosis	A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system.	DOVES_relaxed.owl
MONDO:0002312	biolink:NamedThing	opportunistic mycosis	A mycosis that arises from infection in an immunologically compromised host.	DOVES_relaxed.owl
MONDO:0005923	biolink:NamedThing	Pneumocystis infectious disease	Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally.	DOVES_relaxed.owl
MONDO:0005968	biolink:NamedThing	sporotrichosis	The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound.	DOVES_relaxed.owl
MONDO:0006764	biolink:NamedThing	fungal meningitis	Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts.	DOVES_relaxed.owl
MONDO:0016130	biolink:NamedThing	fungal myositis		DOVES_relaxed.owl
MONDO:0018668	biolink:NamedThing	scedosporiosis		DOVES_relaxed.owl
MONDO:0020944	biolink:NamedThing	fungal infection of eye	Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses.	DOVES_relaxed.owl
MONDO:0042433	biolink:NamedThing	mycotic endocarditis	An endocarditis (disease) caused by infection with Fungi.	DOVES_relaxed.owl
MONDO:0042497	biolink:NamedThing	mycotoxicosis	Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin).	DOVES_relaxed.owl
MONDO:0044083	biolink:NamedThing	alternariosis	Opportunistic fungal infection by a member of Alternaria genus.	DOVES_relaxed.owl
MONDO:8000005	biolink:NamedThing	fungal discitis	Discitis caused by infection with fungi.	DOVES_relaxed.owl
MONDO:0002051	biolink:NamedThing	integumentary system disorder	A disease involving the integumental system.	DOVES_relaxed.owl
MONDO:0000652	biolink:NamedThing	integumentary system benign neoplasm	A benign neoplasm that involves the integumental system.	DOVES_relaxed.owl
MONDO:0000653	biolink:NamedThing	integumentary system cancer	A malignant neoplasm involving the integumental system	DOVES_relaxed.owl
MONDO:0002884	biolink:NamedThing	nail disorder	A disease involving the nail.	DOVES_relaxed.owl
MONDO:0004593	biolink:NamedThing	Bartholin duct cyst	Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice.	DOVES_relaxed.owl
MONDO:0004748	biolink:NamedThing	lip disorder	A disease involving the lip.	DOVES_relaxed.owl
MONDO:0004808	biolink:NamedThing	benign mammary dysplasia		DOVES_relaxed.owl
MONDO:0005093	biolink:NamedThing	skin disorder	Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.	DOVES_relaxed.owl
MONDO:0006118	biolink:NamedThing	breast fibrosis	Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma.	DOVES_relaxed.owl
MONDO:0006591	biolink:NamedThing	panniculitis	Inflammation of the subcutaneous adipose tissue.	DOVES_relaxed.owl
MONDO:0017280	biolink:NamedThing	demodicidosis	Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.	DOVES_relaxed.owl
MONDO:0019296	biolink:NamedThing	subcutaneous tissue disorder	A disease involving the superficial fascia.	DOVES_relaxed.owl
MONDO:0021114	biolink:NamedThing	Bartholin gland neoplasm	A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.	DOVES_relaxed.owl
MONDO:0024308	biolink:NamedThing	pseudoxanthoma elasticum (inherited or acquired)	An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.	DOVES_relaxed.owl
MONDO:0000255	biolink:NamedThing	subcutaneous mycosis	A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis.	DOVES_relaxed.owl
MONDO:0002040	biolink:NamedThing	dermatomycosis	Superficial infections of the skin or its appendages by any of various fungi.	DOVES_relaxed.owl
MONDO:0005982	biolink:NamedThing	tinea infection	A skin infection caused by a fungus.	DOVES_relaxed.owl
MONDO:0045038	biolink:NamedThing	cutaneous basidiobolomycosis		DOVES_relaxed.owl
MONDO:0000259	biolink:NamedThing	asymptomatic dengue		DOVES_relaxed.owl
MONDO:0005502	biolink:NamedThing	dengue disease	Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).	DOVES_relaxed.owl
MONDO:0000261	biolink:NamedThing	adenoiditis	An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil.	DOVES_relaxed.owl
MONDO:0001040	biolink:NamedThing	nasopharyngitis	An inflammatory process that affects the nasopharynx.	DOVES_relaxed.owl
MONDO:0005709	biolink:NamedThing	common cold	An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain.	DOVES_relaxed.owl
MONDO:0000262	biolink:NamedThing	otomycosis	Fungus infection of the external ear, usually by aspergillus species	DOVES_relaxed.owl
MONDO:0001050	biolink:NamedThing	malignant otitis externa	An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.	DOVES_relaxed.owl
MONDO:0002246	biolink:NamedThing	perichondritis of auricle	An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.	DOVES_relaxed.owl
MONDO:0000303	biolink:NamedThing	conidiobolomycosis		DOVES_relaxed.owl
MONDO:0000879	biolink:NamedThing	cutaneous candidiasis	Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0005757	biolink:NamedThing	eumycotic mycetoma	A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes.	DOVES_relaxed.owl
MONDO:0005983	biolink:NamedThing	tinea favosa	A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles.	DOVES_relaxed.owl
MONDO:0021660	biolink:NamedThing	deep seated dermatophytosis	A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars.	DOVES_relaxed.owl
MONDO:0100504	biolink:NamedThing	fungal infection of the toenail	A fungal infectious disease that involves the toenail.	DOVES_relaxed.owl
MONDO:0000263	biolink:NamedThing	laryngotracheitis	An inflammation of both larynx and trachea.	DOVES_relaxed.owl
MONDO:0002647	biolink:NamedThing	laryngitis	An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.	DOVES_relaxed.owl
MONDO:0001369	biolink:NamedThing	chronic laryngitis	Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes.	DOVES_relaxed.owl
MONDO:0005819	biolink:NamedThing	laryngeal tuberculosis	Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare.	DOVES_relaxed.owl
MONDO:0005990	biolink:NamedThing	tracheitis	A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions.	DOVES_relaxed.owl
MONDO:0000265	biolink:NamedThing	aspiration pneumonia	A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract.	DOVES_relaxed.owl
MONDO:0005275	biolink:NamedThing	lung disorder	A disease involving the lung.	DOVES_relaxed.owl
MONDO:0000744	biolink:NamedThing	lung abscess	A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis.	DOVES_relaxed.owl
MONDO:0001024	biolink:NamedThing	pneumonic plague	A plague in which the bacteria have infected the lungs.	DOVES_relaxed.owl
MONDO:0001437	biolink:NamedThing	pulmonary alveolar proteinosis	A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever.	DOVES_relaxed.owl
MONDO:0002047	biolink:NamedThing	pulmonary systemic sclerosis		DOVES_relaxed.owl
MONDO:0002267	biolink:NamedThing	obstructive lung disease	Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent.	DOVES_relaxed.owl
MONDO:0002465	biolink:NamedThing	bronchiolitis	Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath.	DOVES_relaxed.owl
MONDO:0002929	biolink:NamedThing	pulmonary immaturity		DOVES_relaxed.owl
MONDO:0004597	biolink:NamedThing	pulmonary embolism and infarction	Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism.	DOVES_relaxed.owl
MONDO:0005847	biolink:NamedThing	middle lobe syndrome	Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0006931	biolink:NamedThing	pulmonary coin lesion	A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura.	DOVES_relaxed.owl
MONDO:0006933	biolink:NamedThing	pulmonary plasma cell granuloma	A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter.	DOVES_relaxed.owl
MONDO:0006972	biolink:NamedThing	silo filler disease	A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage.	DOVES_relaxed.owl
MONDO:0009928	biolink:NamedThing	pulmonary alveolar microlithiasis	Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0015925	biolink:NamedThing	interstitial lung disease	A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.	DOVES_relaxed.owl
MONDO:0017879	biolink:NamedThing	hantavirus pulmonary syndrome	An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems.	DOVES_relaxed.owl
MONDO:0018469	biolink:NamedThing	pulmonary non-tuberculous mycobacterial infection		DOVES_relaxed.owl
MONDO:0021113	biolink:NamedThing	respiratory failure	The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function.	DOVES_relaxed.owl
MONDO:0021117	biolink:NamedThing	lung neoplasm	A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma.	DOVES_relaxed.owl
MONDO:0022736	biolink:NamedThing	occupational lung disease		DOVES_relaxed.owl
MONDO:0023011	biolink:NamedThing	Wilson-Mikity syndrome		DOVES_relaxed.owl
MONDO:0024263	biolink:NamedThing	neonatal aspiration syndrome	Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn.	DOVES_relaxed.owl
MONDO:0043905	biolink:NamedThing	pneumonitis	An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia.	DOVES_relaxed.owl
MONDO:0600026	biolink:NamedThing	vanishing lung syndrome	A rare form of irreversible damage to the pulmonary parenchyma often due to chronic obstructive pulmonary disease (COPD). It is associated with a spectrum of clinical manifestations, including worsening dyspnea, cough, declining pulmonary function, and occasionally spontaneous pneumothorax due to ruptured bullae.	DOVES_relaxed.owl
MONDO:0600029	biolink:NamedThing	restrictive pulmonary disease	Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough.	DOVES_relaxed.owl
MONDO:0700001	biolink:NamedThing	shrinking lung syndrome	A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient.	DOVES_relaxed.owl
MONDO:0800126	biolink:NamedThing	dystrophic pulmonary ossification	A rare lung disorder characterized by ectopic bone formation within lung parenchyma. DPO can be idiopathic or associated with a variety of cardiovascular, respiratory diseases or other disorders. There are mainly two forms of DPO: nodular and dendriform.	DOVES_relaxed.owl
MONDO:0005657	biolink:NamedThing	aspergillosis	Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas.	DOVES_relaxed.owl
MONDO:0005873	biolink:NamedThing	neuroaspergillosis	Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)	DOVES_relaxed.owl
MONDO:0015243	biolink:NamedThing	allergic bronchopulmonary aspergillosis	Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.	DOVES_relaxed.owl
MONDO:0021935	biolink:NamedThing	aspergillus niger infection	A infectious disease involving the Aspergillus niger.	DOVES_relaxed.owl
MONDO:0000270	biolink:NamedThing	lower respiratory tract disorder	A disease involving the lower respiratory tract.	DOVES_relaxed.owl
MONDO:0005087	biolink:NamedThing	respiratory system disorder	A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma.	DOVES_relaxed.owl
MONDO:0000376	biolink:NamedThing	respiratory system cancer	A malignant neoplasm involving the respiratory system	DOVES_relaxed.owl
MONDO:0000382	biolink:NamedThing	respiratory system benign neoplasm	A benign neoplasm that involves the respiratory system.	DOVES_relaxed.owl
MONDO:0000771	biolink:NamedThing	allergic respiratory disease	A respiratory system disease with a basis in a pathological type I hypersensitivity reaction.	DOVES_relaxed.owl
MONDO:0001735	biolink:NamedThing	paranasal sinus disorder	A disease involving the paranasal sinus.	DOVES_relaxed.owl
MONDO:0004867	biolink:NamedThing	upper respiratory tract disorder	A disease involving the upper respiratory tract.	DOVES_relaxed.owl
MONDO:0005077	biolink:NamedThing	pertussis	A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough.	DOVES_relaxed.owl
MONDO:0005100	biolink:NamedThing	systemic sclerosis	A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.	DOVES_relaxed.owl
MONDO:0005296	biolink:NamedThing	sleep apnea syndrome	A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep.	DOVES_relaxed.owl
MONDO:0005728	biolink:NamedThing	diaphragm disorder	A disease involving the diaphragm.	DOVES_relaxed.owl
MONDO:0006052	biolink:NamedThing	pulmonary tuberculosis	A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss.	DOVES_relaxed.owl
MONDO:0006625	biolink:NamedThing	altitude sickness	Multiple symptoms associated with reduced oxygen at high altitude.	DOVES_relaxed.owl
MONDO:0006663	biolink:NamedThing	perinatal asphyxia	A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process.	DOVES_relaxed.owl
MONDO:0008348	biolink:NamedThing	pulmonary nodular lymphoid hyperplasia	Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.	DOVES_relaxed.owl
MONDO:0008587	biolink:NamedThing	tracheobronchopathia osteochondroplastica	Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi.	DOVES_relaxed.owl
MONDO:0010148	biolink:NamedThing	Mounier-Kuhn syndrome	Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.	DOVES_relaxed.owl
MONDO:0010220	biolink:NamedThing	Young syndrome	Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections.	DOVES_relaxed.owl
MONDO:0012124	biolink:NamedThing	sudden infant death-dysgenesis of the testes syndrome	Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.	DOVES_relaxed.owl
MONDO:0014629	biolink:NamedThing	autoimmune interstitial lung disease-arthritis syndrome	A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.	DOVES_relaxed.owl
MONDO:0016575	biolink:NamedThing	primary ciliary dyskinesia	A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).	DOVES_relaxed.owl
MONDO:0017357	biolink:NamedThing	transient hyperammonemia of the newborn		DOVES_relaxed.owl
MONDO:0017849	biolink:NamedThing	Siegler-Brewer-Carey syndrome	Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed.	DOVES_relaxed.owl
MONDO:0018127	biolink:NamedThing	16q24.1 microdeletion syndrome	16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).	DOVES_relaxed.owl
MONDO:0018183	biolink:NamedThing	staphylococcal necrotizing pneumonia	Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.	DOVES_relaxed.owl
MONDO:0018554	biolink:NamedThing	pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	A rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.	DOVES_relaxed.owl
MONDO:0018597	biolink:NamedThing	plastic bronchitis	A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe.	DOVES_relaxed.owl
MONDO:0018955	biolink:NamedThing	recurrent respiratory papillomatosis	Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive.	DOVES_relaxed.owl
MONDO:0018978	biolink:NamedThing	IgG4-related mediastinitis		DOVES_relaxed.owl
MONDO:0019092	biolink:NamedThing	infantile apnea	Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.	DOVES_relaxed.owl
MONDO:0019540	biolink:NamedThing	diffuse alveolar hemorrhage		DOVES_relaxed.owl
MONDO:0020001	biolink:NamedThing	respiratory or thoracic malformation		DOVES_relaxed.owl
MONDO:0020641	biolink:NamedThing	respiratory tract neoplasm	A benign or malignant, primary or metastatic neoplasm involving the respiratory tract.	DOVES_relaxed.owl
MONDO:0024355	biolink:NamedThing	respiratory tract infectious disorder	Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases.	DOVES_relaxed.owl
MONDO:0035529	biolink:NamedThing	infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia	A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.	DOVES_relaxed.owl
MONDO:0100116	biolink:NamedThing	Middle East respiratory syndrome	A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome.	DOVES_relaxed.owl
MONDO:0100470	biolink:NamedThing	reactive airway disease	Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants.	DOVES_relaxed.owl
MONDO:0000271	biolink:NamedThing	tuberculous salpingitis	An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube.	DOVES_relaxed.owl
MONDO:0003619	biolink:NamedThing	salpingitis	Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.	DOVES_relaxed.owl
MONDO:0001172	biolink:NamedThing	salpingo-oophoritis		DOVES_relaxed.owl
MONDO:0003617	biolink:NamedThing	chronic salpingitis	Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack.	DOVES_relaxed.owl
MONDO:0003618	biolink:NamedThing	pyosalpinx	The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain.	DOVES_relaxed.owl
MONDO:0021159	biolink:NamedThing	gonococcal salpingitis	An salpingitis caused by infection with Neisseria gonorrhoeae.	DOVES_relaxed.owl
MONDO:0006002	biolink:NamedThing	urogenital tuberculosis	A general term for mycobacterium infections of any part of the urogenital system in either the male or the female.	DOVES_relaxed.owl
MONDO:0002226	biolink:NamedThing	tuberculous oophoritis	An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary.	DOVES_relaxed.owl
MONDO:0004272	biolink:NamedThing	urinary bladder tuberculosis	A tuberculosis that involves the urinary bladder.	DOVES_relaxed.owl
MONDO:0004517	biolink:NamedThing	ureter tuberculosis	A tuberculosis that involves the ureter.	DOVES_relaxed.owl
MONDO:0005938	biolink:NamedThing	renal tuberculosis	Infection of the kidney due to mycobacteria.	DOVES_relaxed.owl
MONDO:0006845	biolink:NamedThing	male genital tuberculosis	Mycobacterium infections of the male reproductive tract (genitalia, male).	DOVES_relaxed.owl
MONDO:0000273	biolink:NamedThing	Kunjin virus infectous disease	A West Nile encephalitis that results in infection located in brain, has material basis in Kunjin virus, a subtype of West Nile Virus, which is transmitted by Culex annulirostris mosquito bite. The infection has symptom fever, has symptom rigor, has symptom headache, has symptom confusion, and has symptom lethargy.	DOVES_relaxed.owl
MONDO:0019376	biolink:NamedThing	West-Nile encephalitis	An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.	DOVES_relaxed.owl
MONDO:0000276	biolink:NamedThing	Powassan encephalitis	A disease caused by infection with Powassan virus.	DOVES_relaxed.owl
MONDO:0005763	biolink:NamedThing	Flaviviridae infectious disease	Infections with viruses of the family flaviviridae.	DOVES_relaxed.owl
MONDO:0001137	biolink:NamedThing	Murray valley encephalitis	An disease caused by infection with Murray Valley encephalitis virus.	DOVES_relaxed.owl
MONDO:0002282	biolink:NamedThing	West Nile fever	A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)	DOVES_relaxed.owl
MONDO:0005231	biolink:NamedThing	hepatitis C virus infection	A viral infection caused by the hepatitis C virus.	DOVES_relaxed.owl
MONDO:0005909	biolink:NamedThing	pestivirus infectious disease	Infections with viruses of the genus pestivirus, family flaviviridae.	DOVES_relaxed.owl
MONDO:0005969	biolink:NamedThing	st. Louis encephalitis	A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)	DOVES_relaxed.owl
MONDO:0017881	biolink:NamedThing	Kyasanur forest disease	Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations.	DOVES_relaxed.owl
MONDO:0017882	biolink:NamedThing	Omsk hemorrhagic fever	Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.	DOVES_relaxed.owl
MONDO:0018661	biolink:NamedThing	Zika virus infectious disease	Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.	DOVES_relaxed.owl
MONDO:0020502	biolink:NamedThing	yellow fever	Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure.	DOVES_relaxed.owl
MONDO:0006009	biolink:NamedThing	viral encephalitis	Encephalitis resulting from viral infection.	DOVES_relaxed.owl
MONDO:0003336	biolink:NamedThing	acute necrotizing encephalitis	A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)	DOVES_relaxed.owl
MONDO:0003337	biolink:NamedThing	acute hemorrhagic encephalitis	Acute encephalitis that is characterized by bleeding.	DOVES_relaxed.owl
MONDO:0005708	biolink:NamedThing	Colorado tick fever	A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni.	DOVES_relaxed.owl
MONDO:0005736	biolink:NamedThing	eastern equine encephalitis	Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.	DOVES_relaxed.owl
MONDO:0009835	biolink:NamedThing	subacute sclerosing panencephalitis	Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.	DOVES_relaxed.owl
MONDO:0012521	biolink:NamedThing	herpes simplex encephalitis	Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.	DOVES_relaxed.owl
MONDO:0017572	biolink:NamedThing	tick-borne encephalitis	Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis.	DOVES_relaxed.owl
MONDO:0017942	biolink:NamedThing	Hendra virus infection	Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.	DOVES_relaxed.owl
MONDO:0019384	biolink:NamedThing	encephalitis lethargica	A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache.	DOVES_relaxed.owl
MONDO:0020601	biolink:NamedThing	mosquito-borne viral encephalitis	Viral encephalitis that is transmitted by mosquitos.	DOVES_relaxed.owl
MONDO:0027029	biolink:NamedThing	HHV-6 encephalitis	HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors.	DOVES_relaxed.owl
MONDO:0025294	biolink:NamedThing	tick-borne infectious disease	Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic.	DOVES_relaxed.owl
MONDO:0001621	biolink:NamedThing	tick-borne relapsing fever	An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.	DOVES_relaxed.owl
MONDO:0019632	biolink:NamedThing	Lyme disease	Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi.	DOVES_relaxed.owl
MONDO:0025303	biolink:NamedThing	anaplasmosis	An disease or disorder caused by infection with Anaplasma.	DOVES_relaxed.owl
MONDO:0000282	biolink:NamedThing	Whitewater Arroyo hemorrhagic fever	A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations.	DOVES_relaxed.owl
MONDO:0005650	biolink:NamedThing	Arenaviridae infectious disease	Virus diseases caused by the arenaviridae.	DOVES_relaxed.owl
MONDO:0001449	biolink:NamedThing	lymphocytic choriomeningitis	A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)	DOVES_relaxed.owl
MONDO:0005651	biolink:NamedThing	arenavirus hemorrhagic fever	A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus.	DOVES_relaxed.owl
MONDO:0044750	biolink:NamedThing	lassa virus infectious disease		DOVES_relaxed.owl
MONDO:0100120	biolink:NamedThing	vector-borne disease	An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector.	DOVES_relaxed.owl
MONDO:0000283	biolink:NamedThing	Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type		DOVES_relaxed.owl
MONDO:0000284	biolink:NamedThing	Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type		DOVES_relaxed.owl
MONDO:0000310	biolink:NamedThing	Alkhurma hemorrhagic fever	A disease caused by infection with Alkhumra hemorrhagic fever virus.	DOVES_relaxed.owl
MONDO:0000342	biolink:NamedThing	O'nyong'nyong fever	An disease or disorder caused by infection with O'nyong-nyong virus.	DOVES_relaxed.owl
MONDO:0000344	biolink:NamedThing	Ross river fever	A disease caused by infection with Ross River virus.	DOVES_relaxed.owl
MONDO:0000345	biolink:NamedThing	Oropouche fever	A disease caused by infection with Oropouche virus.	DOVES_relaxed.owl
MONDO:0000346	biolink:NamedThing	Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type		DOVES_relaxed.owl
MONDO:0000890	biolink:NamedThing	Zika virus congenital syndrome	A congenital birth syndrome that arises from materal Zika infection.	DOVES_relaxed.owl
MONDO:0001246	biolink:NamedThing	typhus	A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus.	DOVES_relaxed.owl
MONDO:0001444	biolink:NamedThing	Chagas disease	A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias.	DOVES_relaxed.owl
MONDO:0005459	biolink:NamedThing	human African trypanosomiasis	A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death.	DOVES_relaxed.owl
MONDO:0005761	biolink:NamedThing	filarial elephantiasis	Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis.	DOVES_relaxed.owl
MONDO:0005820	biolink:NamedThing	Lassa fever	A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss.	DOVES_relaxed.owl
MONDO:0005828	biolink:NamedThing	listeriosis	A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy.	DOVES_relaxed.owl
MONDO:0005866	biolink:NamedThing	mycobacterium avium complex disease	An infection that is caused by Mycobacterium avium.	DOVES_relaxed.owl
MONDO:0005913	biolink:NamedThing	phlebotomus fever	Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii.	DOVES_relaxed.owl
MONDO:0005991	biolink:NamedThing	trench fever	An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse.	DOVES_relaxed.owl
MONDO:0006005	biolink:NamedThing	Venezuelan equine encephalitis	A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting.	DOVES_relaxed.owl
MONDO:0006941	biolink:NamedThing	rat-bite fever	An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus.	DOVES_relaxed.owl
MONDO:0011989	biolink:NamedThing	leishmaniasis	Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).	DOVES_relaxed.owl
MONDO:0015254	biolink:NamedThing	schistosomiasis	An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.	DOVES_relaxed.owl
MONDO:0017137	biolink:NamedThing	onchocerciasis	Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy.	DOVES_relaxed.owl
MONDO:0017874	biolink:NamedThing	Argentine hemorrhagic fever	Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.	DOVES_relaxed.owl
MONDO:0017875	biolink:NamedThing	Bolivian hemorrhagic fever	Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.	DOVES_relaxed.owl
MONDO:0017876	biolink:NamedThing	Venezuelan hemorrhagic fever	Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.	DOVES_relaxed.owl
MONDO:0017880	biolink:NamedThing	Rift valley fever	Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.	DOVES_relaxed.owl
MONDO:0017941	biolink:NamedThing	chikungunya	An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia.	DOVES_relaxed.owl
MONDO:0018077	biolink:NamedThing	tularemia	Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics.	DOVES_relaxed.owl
MONDO:0019095	biolink:NamedThing	plague	Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis.	DOVES_relaxed.owl
MONDO:0019186	biolink:NamedThing	Q fever	A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness.	DOVES_relaxed.owl
MONDO:0019498	biolink:NamedThing	tungiasis	An disease or disorder caused by infection with Tunga penetrans.	DOVES_relaxed.owl
MONDO:0019633	biolink:NamedThing	relapsing fever	Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex.	DOVES_relaxed.owl
MONDO:0020501	biolink:NamedThing	Crimean-Congo hemorrhagic fever	Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure.	DOVES_relaxed.owl
MONDO:0020731	biolink:NamedThing	arbovirus infection	A viral infection that is transmitted by an arthropod.	DOVES_relaxed.owl
MONDO:0005784	biolink:NamedThing	hantavirus hemorrhagic fever with renal syndrome	A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision.	DOVES_relaxed.owl
MONDO:0022529	biolink:NamedThing	BK-virus nephropathy		DOVES_relaxed.owl
MONDO:0000286	biolink:NamedThing	Epstein-Barr virus hepatitis	A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice.	DOVES_relaxed.owl
MONDO:0005111	biolink:NamedThing	Epstein-Barr virus infection	An infection that is caused by Epstein-Barr virus.	DOVES_relaxed.owl
MONDO:0005810	biolink:NamedThing	infectious mononucleosis	A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus.	DOVES_relaxed.owl
MONDO:0005344	biolink:NamedThing	hepatitis B virus infection	A viral infection caused by the hepatitis B virus.	DOVES_relaxed.owl
MONDO:0005788	biolink:NamedThing	hepatitis E virus infection	Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission.	DOVES_relaxed.owl
MONDO:0005789	biolink:NamedThing	hepatitis D virus infection	Inflammation of the liver in humans caused by hepatitis delta virus, a defective RNA virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.	DOVES_relaxed.owl
MONDO:0005790	biolink:NamedThing	hepatitis A virus infection	Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water.	DOVES_relaxed.owl
MONDO:0024294	biolink:NamedThing	skin disorder caused by infection	Skin diseases caused by bacteria, fungi, parasites, or viruses.	DOVES_relaxed.owl
MONDO:0000337	biolink:NamedThing	exanthema subitum	An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk.	DOVES_relaxed.owl
MONDO:0000338	biolink:NamedThing	variola major infectious disease		DOVES_relaxed.owl
MONDO:0001209	biolink:NamedThing	common wart	A wart caused by human papillomavirus. It can appear anywhere on the skin.	DOVES_relaxed.owl
MONDO:0001795	biolink:NamedThing	plantar wart	A wart in the plantar surface of the foot. It is caused by human papillomavirus.	DOVES_relaxed.owl
MONDO:0004616	biolink:NamedThing	herpetic whitlow	A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2.	DOVES_relaxed.owl
MONDO:0005609	biolink:NamedThing	herpes zoster	A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area.	DOVES_relaxed.owl
MONDO:0005700	biolink:NamedThing	chickenpox	A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications.	DOVES_relaxed.owl
MONDO:0006544	biolink:NamedThing	erythema infectiosum	A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern.	DOVES_relaxed.owl
MONDO:0016455	biolink:NamedThing	virus-associated trichodysplasia spinulosa	Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.	DOVES_relaxed.owl
MONDO:0017326	biolink:NamedThing	infective dermatitis associated with HTLV-1	A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis.	DOVES_relaxed.owl
MONDO:0019471	biolink:NamedThing	adult T-cell leukemia/lymphoma	A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa.	DOVES_relaxed.owl
MONDO:0021201	biolink:NamedThing	skin infection	An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm.	DOVES_relaxed.owl
MONDO:0024295	biolink:NamedThing	skin disease caused by bacterial infection	Skin diseases caused by bacteria.	DOVES_relaxed.owl
MONDO:0024610	biolink:NamedThing	parasitic skin disorder	Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites.	DOVES_relaxed.owl
MONDO:0000447	biolink:NamedThing	autosomal dominant polycystic liver disease	An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver.	DOVES_relaxed.owl
MONDO:0001382	biolink:NamedThing	hepatorenal syndrome	Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant.	DOVES_relaxed.owl
MONDO:0002251	biolink:NamedThing	hepatitis	An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders.	DOVES_relaxed.owl
MONDO:0002405	biolink:NamedThing	hepatic vascular disorder	A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma.	DOVES_relaxed.owl
MONDO:0002520	biolink:NamedThing	hepatic porphyria	A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.	DOVES_relaxed.owl
MONDO:0004694	biolink:NamedThing	hepatopulmonary syndrome	Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases.	DOVES_relaxed.owl
MONDO:0004790	biolink:NamedThing	fatty liver disease	A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis.	DOVES_relaxed.owl
MONDO:0005155	biolink:NamedThing	cirrhosis of liver	A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy.	DOVES_relaxed.owl
MONDO:0005359	biolink:NamedThing	drug-induced liver injury	A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment.	DOVES_relaxed.owl
MONDO:0006595	biolink:NamedThing	perinatal jaundice due to hepatocellular damage	Jaundice in perinates due to cellular damange of liver.	DOVES_relaxed.owl
MONDO:0008966	biolink:NamedThing	Aagenaes syndrome	Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.	DOVES_relaxed.owl
MONDO:0009383	biolink:NamedThing	transient familial neonatal hyperbilirubinemia		DOVES_relaxed.owl
MONDO:0013595	biolink:NamedThing	hyperbiliverdinemia	Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.	DOVES_relaxed.owl
MONDO:0016204	biolink:NamedThing	idiopathic copper-associated cirrhosis	Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.	DOVES_relaxed.owl
MONDO:0018991	biolink:NamedThing	hepatoportal sclerosis	Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding.	DOVES_relaxed.owl
MONDO:0019431	biolink:NamedThing	primitive portal vein thrombosis	Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system.	DOVES_relaxed.owl
MONDO:0020693	biolink:NamedThing	glycogen storage disease due to liver phosphorylase kinase deficiency	A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.	DOVES_relaxed.owl
MONDO:0024477	biolink:NamedThing	liver and intrahepatic bile duct neoplasm	A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma.	DOVES_relaxed.owl
MONDO:0043693	biolink:NamedThing	alcoholic liver diseases	A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis.	DOVES_relaxed.owl
MONDO:0044631	biolink:NamedThing	early-onset familial noncirrhotic portal hypertension		DOVES_relaxed.owl
MONDO:0100192	biolink:NamedThing	liver failure	A liver disease characterized by the liver losing or has lost all of its function.	DOVES_relaxed.owl
MONDO:0100430	biolink:NamedThing	fibrotic liver disease	A liver disease characterized by the presence of excessive fibrous connective tissue in the liver.	DOVES_relaxed.owl
MONDO:0800322	biolink:NamedThing	membranous obstruction of inferior vena cava		DOVES_relaxed.owl
MONDO:0005738	biolink:NamedThing	echinococcosis	A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock.	DOVES_relaxed.owl
MONDO:0017282	biolink:NamedThing	alveolar echinococcosis	Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.	DOVES_relaxed.owl
MONDO:0044346	biolink:NamedThing	echinococcus granulosus infectious disease	An disease or disorder caused by infection with Echinococcus granulosus.	DOVES_relaxed.owl
MONDO:0000290	biolink:NamedThing	primary amebic meningoencephalitis	A infectious disease involving the Naegleria fowleri.	DOVES_relaxed.owl
MONDO:0002428	biolink:NamedThing	protozoa infectious disease	An infection that is caused by protozoans.	DOVES_relaxed.owl
MONDO:0000291	biolink:NamedThing	granulomatous amebic encephalitis	Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors.	DOVES_relaxed.owl
MONDO:0000940	biolink:NamedThing	trypanosomiasis	Infection with protozoa of the genus trypanosoma.	DOVES_relaxed.owl
MONDO:0001103	biolink:NamedThing	giardiasis	An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact.	DOVES_relaxed.owl
MONDO:0001955	biolink:NamedThing	protozoal dysentery	A dysentery that involves protozoan infection.	DOVES_relaxed.owl
MONDO:0002154	biolink:NamedThing	trichomoniasis	An infection that is caused by Trichomonas.	DOVES_relaxed.owl
MONDO:0005629	biolink:NamedThing	Acanthamoeba keratitis	Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear.	DOVES_relaxed.owl
MONDO:0005644	biolink:NamedThing	amebiasis	A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs.	DOVES_relaxed.owl
MONDO:0005661	biolink:NamedThing	babesiosis	Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms.	DOVES_relaxed.owl
MONDO:0005662	biolink:NamedThing	balantidiasis	Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer.	DOVES_relaxed.owl
MONDO:0005707	biolink:NamedThing	coccidiosis	A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting.	DOVES_relaxed.owl
MONDO:0005978	biolink:NamedThing	theileriasis	Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition.	DOVES_relaxed.owl
MONDO:0024608	biolink:NamedThing	dientamoebiasis	Gastrointestinal infection with organisms of the genus dientamoeba.	DOVES_relaxed.owl
MONDO:0020067	biolink:NamedThing	infectious encephalitis	An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi.	DOVES_relaxed.owl
MONDO:0000937	biolink:NamedThing	syphilitic encephalitis	An encephalitis caused by infection with Treponema.	DOVES_relaxed.owl
MONDO:0005817	biolink:NamedThing	Kluver-Bucy syndrome	Kluver Bucy syndrome is a rare behavioral impairment characterized byinappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, includea diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications.	DOVES_relaxed.owl
MONDO:0016318	biolink:NamedThing	progressive multifocal leukoencephalopathy	Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS).	DOVES_relaxed.owl
MONDO:0016991	biolink:NamedThing	acute necrotizing encephalopathy of childhood	Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.	DOVES_relaxed.owl
MONDO:0019377	biolink:NamedThing	Mycoplasma encephalitis	Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).	DOVES_relaxed.owl
MONDO:0020069	biolink:NamedThing	chronic encephalitis	Chronic form of encephalitis.	DOVES_relaxed.owl
MONDO:0021747	biolink:NamedThing	Acanthamoeba infectious disease	A infectious disease involving the Acanthamoeba.	DOVES_relaxed.owl
MONDO:0000292	biolink:NamedThing	philophthalmiasis	A disease caused by infection with Philophthalmus.	DOVES_relaxed.owl
MONDO:0005739	biolink:NamedThing	echinostomiasis	Infection by flukes of the genus Echinostoma.	DOVES_relaxed.owl
MONDO:0000293	biolink:NamedThing	coenurosis	A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs.	DOVES_relaxed.owl
MONDO:0000367	biolink:NamedThing	taeniasis	A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea.	DOVES_relaxed.owl
MONDO:0015484	biolink:NamedThing	cysticercosis	Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs.	DOVES_relaxed.owl
MONDO:0000294	biolink:NamedThing	mesocestoidiasis	An disease or disorder caused by infection with Mesocestoides.	DOVES_relaxed.owl
MONDO:0042488	biolink:NamedThing	Cestode infectious disease	Infections with true tapeworms of the helminth subclass Cestoda.	DOVES_relaxed.owl
MONDO:0005963	biolink:NamedThing	sparganosis	A condition resulting from infection with the second stage larvae of the parasite Spirometra.	DOVES_relaxed.owl
MONDO:0015260	biolink:NamedThing	diphyllobothriasis	Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells).	DOVES_relaxed.owl
MONDO:0000295	biolink:NamedThing	acanthocephaliasis	An disease or disorder caused by infection with Acanthocephala.	DOVES_relaxed.owl
MONDO:0004664	biolink:NamedThing	helminthiasis	A parasitic infection characterized by the infestation with worms, mainly in the intestine.	DOVES_relaxed.owl
MONDO:0004662	biolink:NamedThing	heterophyiasis	An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.	DOVES_relaxed.owl
MONDO:0004666	biolink:NamedThing	metagonimiasis	An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.	DOVES_relaxed.owl
MONDO:0004668	biolink:NamedThing	fascioliasis	A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction.	DOVES_relaxed.owl
MONDO:0004672	biolink:NamedThing	fasciolopsiasis	A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response.	DOVES_relaxed.owl
MONDO:0004755	biolink:NamedThing	monieziasis	Infection of ruminants with tapeworms of the genus Moniezia.	DOVES_relaxed.owl
MONDO:0005705	biolink:NamedThing	clonorchiasis	Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0005729	biolink:NamedThing	dicrocoeliasis	Infection with flukes of the genus Dicrocoelium.	DOVES_relaxed.owl
MONDO:0005759	biolink:NamedThing	fascioloidiasis	Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma.	DOVES_relaxed.owl
MONDO:0005776	biolink:NamedThing	gnathomiasis	An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia).	DOVES_relaxed.owl
MONDO:0005802	biolink:NamedThing	hymenolepiasis	A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability.	DOVES_relaxed.owl
MONDO:0005870	biolink:NamedThing	necatoriasis	A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia.	DOVES_relaxed.owl
MONDO:0005871	biolink:NamedThing	Nematoda infectious disease	Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans.	DOVES_relaxed.owl
MONDO:0005884	biolink:NamedThing	opisthorchiasis	Infection with flukes of the genus Opisthorchis.	DOVES_relaxed.owl
MONDO:0005895	biolink:NamedThing	paragonimiasis	A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia.	DOVES_relaxed.owl
MONDO:0016075	biolink:NamedThing	filariasis	A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation.	DOVES_relaxed.owl
MONDO:0019143	biolink:NamedThing	angiostrongyliasis	A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.	DOVES_relaxed.owl
MONDO:0024271	biolink:NamedThing	intestinal helminthiasis	A parasitic helminthiasis infectious disease that involves the intestine.	DOVES_relaxed.owl
MONDO:0000297	biolink:NamedThing	baylisascariasis	An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses.	DOVES_relaxed.owl
MONDO:0005656	biolink:NamedThing	Ascaridida infectious disease	Infections with nematodes of the order ascaridida.	DOVES_relaxed.owl
MONDO:0005654	biolink:NamedThing	ascariasis	An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur.	DOVES_relaxed.owl
MONDO:0005655	biolink:NamedThing	ascaridiasis	Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea.	DOVES_relaxed.owl
MONDO:0005987	biolink:NamedThing	toxascariasis	Infections with nematodes of the genus toxascaris.	DOVES_relaxed.owl
MONDO:0005988	biolink:NamedThing	toxocariasis	A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections.	DOVES_relaxed.owl
MONDO:0015200	biolink:NamedThing	anisakiasis	Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum.	DOVES_relaxed.owl
MONDO:0000298	biolink:NamedThing	dioctophymiasis	A disease caused by infection with Dioctophyme renale.	DOVES_relaxed.owl
MONDO:0005745	biolink:NamedThing	Enoplea infectious disease	Infections with nematodes of the order enoplida.	DOVES_relaxed.owl
MONDO:0001532	biolink:NamedThing	capillariasis	A infectious disease involving the Capillaria.	DOVES_relaxed.owl
MONDO:0005996	biolink:NamedThing	trichuriasis	An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea.	DOVES_relaxed.owl
MONDO:0019444	biolink:NamedThing	trichinellosis	A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.	DOVES_relaxed.owl
MONDO:0000299	biolink:NamedThing	thelaziasis	A disease caused by infection with Thelazia.	DOVES_relaxed.owl
MONDO:0005943	biolink:NamedThing	Rhabditida infectious disease	Infections with nematodes of the order rhabditida.	DOVES_relaxed.owl
MONDO:0005731	biolink:NamedThing	dipetalonemiasis	A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids.	DOVES_relaxed.owl
MONDO:0005746	biolink:NamedThing	enterobiasis	An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus.	DOVES_relaxed.owl
MONDO:0005957	biolink:NamedThing	setariasis	Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness.	DOVES_relaxed.owl
MONDO:0005974	biolink:NamedThing	strongyloidiasis	An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection.	DOVES_relaxed.owl
MONDO:0015636	biolink:NamedThing	dirofilariasis	Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans.	DOVES_relaxed.owl
MONDO:0016472	biolink:NamedThing	dracunculiasis	Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).	DOVES_relaxed.owl
MONDO:0020959	biolink:NamedThing	Mansonella ozzardi infection	An infection that is caused by the organism Mansonella ozzardi.	DOVES_relaxed.owl
MONDO:0000301	biolink:NamedThing	ophthalmomyiasis	An myiasis caused by infection with Oestrus ovis.	DOVES_relaxed.owl
MONDO:0005805	biolink:NamedThing	hypodermyiasis	Infestation with larvae of the genus Hypoderma, the warble fly.	DOVES_relaxed.owl
MONDO:0000302	biolink:NamedThing	basidiobolomycosis	A disease caused by infection with Basidiobolus.	DOVES_relaxed.owl
MONDO:0019136	biolink:NamedThing	Zygomycosis	Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue.	DOVES_relaxed.owl
MONDO:0015908	biolink:NamedThing	chromomycosis	Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa.	DOVES_relaxed.owl
MONDO:0000304	biolink:NamedThing	penicilliosis	A disease caused by infection with Talaromyces marneffei.	DOVES_relaxed.owl
MONDO:0045033	biolink:NamedThing	opportunistic systemic mycosis	A mycosis that arises from infection in an immunologically compromised host and is systemic.	DOVES_relaxed.owl
MONDO:0000306	biolink:NamedThing	trichosporonosis	Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs.	DOVES_relaxed.owl
MONDO:0042233	biolink:NamedThing	disseminated candidiasis	Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes.	DOVES_relaxed.owl
MONDO:0000307	biolink:NamedThing	parasitic Ichthyosporea infectious disease	A disease caused by infection with Ichthyosporea.	DOVES_relaxed.owl
MONDO:0005135	biolink:NamedThing	parasitic infectious disease	A successful invasion of a host by an organism that uses the host for food and shelter.	DOVES_relaxed.owl
MONDO:0005724	biolink:NamedThing	cryptococcosis	An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004	DOVES_relaxed.owl
MONDO:0005846	biolink:NamedThing	microsporidiosis	A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting.	DOVES_relaxed.owl
MONDO:0015675	biolink:NamedThing	distomatosis	Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.	DOVES_relaxed.owl
MONDO:0018500	biolink:NamedThing	cutaneous larva migrans	Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.	DOVES_relaxed.owl
MONDO:0019028	biolink:NamedThing	amoebiasis due to Entamoeba histolytica	A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare.	DOVES_relaxed.owl
MONDO:0019036	biolink:NamedThing	amoebiasis due to free-living amoebae	Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units.	DOVES_relaxed.owl
MONDO:0020947	biolink:NamedThing	parasitic eye infection	Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites.	DOVES_relaxed.owl
MONDO:0024314	biolink:NamedThing	parasitemia	The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0024315	biolink:NamedThing	parasitic endophthalmitis	Infection of the epicondyles by a parasite.	DOVES_relaxed.owl
MONDO:0042484	biolink:NamedThing	disseminated sporotrichosis		DOVES_relaxed.owl
MONDO:0000309	biolink:NamedThing	aniseikonia	A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other.	DOVES_relaxed.owl
MONDO:0004892	biolink:NamedThing	refractive error	A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia.	DOVES_relaxed.owl
MONDO:0001330	biolink:NamedThing	presbyopia	The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation.	DOVES_relaxed.owl
MONDO:0001390	biolink:NamedThing	transient refractive change		DOVES_relaxed.owl
MONDO:0001478	biolink:NamedThing	anisometropia	A condition of an inequality of refractive power of the two eyes.	DOVES_relaxed.owl
MONDO:0004891	biolink:NamedThing	hyperopia	A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0011284	biolink:NamedThing	astigmatism	Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0000313	biolink:NamedThing	hypophosphatemia	Lower than normal levels of phosphates in the circulating blood.	DOVES_relaxed.owl
MONDO:0002319	biolink:NamedThing	phosphorus metabolism disease	A metabolic disorder that affects the phosphate homeostasis.	DOVES_relaxed.owl
MONDO:0000328	biolink:NamedThing	hyperphosphatemia	Abnormally high level of phosphate in the blood.	DOVES_relaxed.owl
MONDO:0000314	biolink:NamedThing	primary bacterial infectious disease		DOVES_relaxed.owl
MONDO:0005113	biolink:NamedThing	bacterial infectious disease	An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections.	DOVES_relaxed.owl
MONDO:0000315	biolink:NamedThing	commensal bacterial infectious disease	A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.	DOVES_relaxed.owl
MONDO:0000316	biolink:NamedThing	opportunistic bacterial infectious disease		DOVES_relaxed.owl
MONDO:0000409	biolink:NamedThing	chorioamnionitis	A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion.	DOVES_relaxed.owl
MONDO:0000705	biolink:NamedThing	Clostridium difficile colitis	A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated.	DOVES_relaxed.owl
MONDO:0004471	biolink:NamedThing	bacterial arthritis	The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.	DOVES_relaxed.owl
MONDO:0004652	biolink:NamedThing	bacterial pneumonia	Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain.	DOVES_relaxed.owl
MONDO:0005117	biolink:NamedThing	Aeromonas hydrophila infectious disease	Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria.	DOVES_relaxed.owl
MONDO:0005121	biolink:NamedThing	Enterococcus faecalis infection	A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens.	DOVES_relaxed.owl
MONDO:0005122	biolink:NamedThing	Pectobacterium carotovorum infection	A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as "bacterial soft rot" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems).	DOVES_relaxed.owl
MONDO:0005141	biolink:NamedThing	Pseudomonas infection	Infections with bacteria of the genus pseudomonas.	DOVES_relaxed.owl
MONDO:0005229	biolink:NamedThing	bacterial infectious disease with sepsis	An infectious disease caused by bacteria causing sepsis.	DOVES_relaxed.owl
MONDO:0005242	biolink:NamedThing	empyema	An accumulation of pus in a body cavity, usually the pleural space.	DOVES_relaxed.owl
MONDO:0005247	biolink:NamedThing	bacterial urinary tract infection	A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine.	DOVES_relaxed.owl
MONDO:0005323	biolink:NamedThing	bacterial sexually transmitted disease	Bacterial diseases that are potentially transmitted or propagated by sexual conduct.	DOVES_relaxed.owl
MONDO:0005373	biolink:NamedThing	meningococcal infection	Infections with bacteria of the species neisseria meningitidis.	DOVES_relaxed.owl
MONDO:0005901	biolink:NamedThing	pasteurellosis	Infections with bacteria of the genus pasteurella.	DOVES_relaxed.owl
MONDO:0005925	biolink:NamedThing	pneumonic pasteurellosis	Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal.	DOVES_relaxed.owl
MONDO:0006636	biolink:NamedThing	Actinobacillus infectious disease	Infections with bacteria of the genus actinobacillus.	DOVES_relaxed.owl
MONDO:0006668	biolink:NamedThing	bacterial conjunctivitis	Inflammation of the conjunctiva caused by a variety of bacterial agents.	DOVES_relaxed.owl
MONDO:0006669	biolink:NamedThing	bacterial endocarditis	Endocarditis that is caused by an infection with a bacterial agent.	DOVES_relaxed.owl
MONDO:0006670	biolink:NamedThing	bacterial meningitis	Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection.	DOVES_relaxed.owl
MONDO:0006706	biolink:NamedThing	Bifidobacteriales infectious disease	Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae.	DOVES_relaxed.owl
MONDO:0006926	biolink:NamedThing	haemophilus infectious disease	Infections with bacteria of the genus haemophilus.	DOVES_relaxed.owl
MONDO:0006929	biolink:NamedThing	Proteus infectious disease	Infections with bacteria of the genus proteus.	DOVES_relaxed.owl
MONDO:0006937	biolink:NamedThing	pulpitis	Inflammation of the dental pulp.	DOVES_relaxed.owl
MONDO:0006956	biolink:NamedThing	Rickettsiosis	A group of infectious diseases that is caused by Rickettsia.	DOVES_relaxed.owl
MONDO:0007014	biolink:NamedThing	vibrio infectious disease	Infections with bacteria of the genus vibrio.	DOVES_relaxed.owl
MONDO:0007023	biolink:NamedThing	Yersinia infectious disease	Infections with bacteria of the genus yersinia.	DOVES_relaxed.owl
MONDO:0016127	biolink:NamedThing	bacterial myositis		DOVES_relaxed.owl
MONDO:0017124	biolink:NamedThing	noma	Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.	DOVES_relaxed.owl
MONDO:0018111	biolink:NamedThing	idiopathic severe pneumococcemia		DOVES_relaxed.owl
MONDO:0018602	biolink:NamedThing	necrotizing soft tissue infection		DOVES_relaxed.owl
MONDO:0020590	biolink:NamedThing	mycobacterial infectious disease	Infection due to organisms from the genus Mycobacteria.	DOVES_relaxed.owl
MONDO:0020920	biolink:NamedThing	escherichia coli infection	Infection with the organism Escherichia Coli.	DOVES_relaxed.owl
MONDO:0021678	biolink:NamedThing	gram-negative bacterial infections	Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method.	DOVES_relaxed.owl
MONDO:0021679	biolink:NamedThing	gram-positive bacterial infections	Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.	DOVES_relaxed.owl
MONDO:0021839	biolink:NamedThing	spirochaetales infections	Infections with bacteria of the order SPIROCHAETALES.	DOVES_relaxed.owl
MONDO:0024313	biolink:NamedThing	staphylococcal infection	An infection caused by Staphylococcus.	DOVES_relaxed.owl
MONDO:0024389	biolink:NamedThing	anaerobic bacteria infectious disease		DOVES_relaxed.owl
MONDO:0030603	biolink:NamedThing	Klebsiella infectious disease	Infections with bacteria of the genus KLEBSIELLA.	DOVES_relaxed.owl
MONDO:0043352	biolink:NamedThing	fournier gangrene	An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease.	DOVES_relaxed.owl
MONDO:0044746	biolink:NamedThing	zoonotic bacterial infection	A bacterial infection that is transmitted from animals to people.	DOVES_relaxed.owl
MONDO:0400006	biolink:NamedThing	botryomycosis	A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy.	DOVES_relaxed.owl
MONDO:0600003	biolink:NamedThing	bacterial hemorrhagic fever	A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus.	DOVES_relaxed.owl
MONDO:0000320	biolink:NamedThing	glandular tularemia	A tularemia that involves the lymph node.	DOVES_relaxed.owl
MONDO:0004928	biolink:NamedThing	lymph node disorder	Any disorder of the lymph nodes.	DOVES_relaxed.owl
MONDO:0002052	biolink:NamedThing	lymphadenitis	Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process.	DOVES_relaxed.owl
MONDO:0005831	biolink:NamedThing	lymph node tuberculosis	Tuberculosis of the lymph node.	DOVES_relaxed.owl
MONDO:0024339	biolink:NamedThing	lymph node neoplasm	A neoplasm involving a lymph node.	DOVES_relaxed.owl
MONDO:0000321	biolink:NamedThing	typhoidal tularemia	A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss.	DOVES_relaxed.owl
MONDO:0001413	biolink:NamedThing	ulceroglandular tularemia	A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion.	DOVES_relaxed.owl
MONDO:0001665	biolink:NamedThing	oculoglandular tularemia	A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear.	DOVES_relaxed.owl
MONDO:0001916	biolink:NamedThing	gastrointestinal tularemia	A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting.	DOVES_relaxed.owl
MONDO:0002212	biolink:NamedThing	pneumonic tularemia	A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing.	DOVES_relaxed.owl
MONDO:0000327	biolink:NamedThing	Buruli ulcer disease	A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers.	DOVES_relaxed.owl
MONDO:0000827	biolink:NamedThing	salmonellosis	Infections with bacteria of the genus salmonella.	DOVES_relaxed.owl
MONDO:0000979	biolink:NamedThing	pinta disease	An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes.	DOVES_relaxed.owl
MONDO:0001797	biolink:NamedThing	chancroid	Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery.	DOVES_relaxed.owl
MONDO:0004277	biolink:NamedThing	gonorrhea	A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease.	DOVES_relaxed.owl
MONDO:0005119	biolink:NamedThing	anthrax infection	An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers.	DOVES_relaxed.owl
MONDO:0005124	biolink:NamedThing	leprosy	Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system.	DOVES_relaxed.owl
MONDO:0005498	biolink:NamedThing	botulism	A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure.	DOVES_relaxed.owl
MONDO:0005504	biolink:NamedThing	diphtheria	A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects.	DOVES_relaxed.owl
MONDO:0005526	biolink:NamedThing	tetanus	A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites.	DOVES_relaxed.owl
MONDO:0005664	biolink:NamedThing	bartonellosis	An infectious disease produced by bacteria of the genus Bartonella.	DOVES_relaxed.owl
MONDO:0005683	biolink:NamedThing	brucellosis	Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases.	DOVES_relaxed.owl
MONDO:0005774	biolink:NamedThing	glanders	A condition resulting from infection by Burkholderia mallei, which mainly affects horses.	DOVES_relaxed.owl
MONDO:0005777	biolink:NamedThing	granuloma inguinale	A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia.	DOVES_relaxed.owl
MONDO:0005823	biolink:NamedThing	legionellosis	Any disease caused by Legionella bacteria.	DOVES_relaxed.owl
MONDO:0005825	biolink:NamedThing	leptospirosis	A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure.	DOVES_relaxed.owl
MONDO:0005888	biolink:NamedThing	ornithosis	Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans.	DOVES_relaxed.owl
MONDO:0005945	biolink:NamedThing	rhinoscleroma	A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin.	DOVES_relaxed.owl
MONDO:0005971	biolink:NamedThing	staphyloenterotoxemia	Food poisoning that is caused by Staphylococcal infection.	DOVES_relaxed.owl
MONDO:0005976	biolink:NamedThing	syphilis	A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system.	DOVES_relaxed.owl
MONDO:0015766	biolink:NamedThing	cholera	Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated.	DOVES_relaxed.owl
MONDO:0017775	biolink:NamedThing	melioidosis	An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration.	DOVES_relaxed.owl
MONDO:0018076	biolink:NamedThing	tuberculosis	A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use.	DOVES_relaxed.owl
MONDO:0019345	biolink:NamedThing	shigellosis	Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts.	DOVES_relaxed.owl
MONDO:0020532	biolink:NamedThing	spirillary rat-bite fever	Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.	DOVES_relaxed.owl
MONDO:0020533	biolink:NamedThing	streptobacillary rat-bite fever	Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.	DOVES_relaxed.owl
MONDO:0017832	biolink:NamedThing	mycobacterium xenopi infection	A disease caused by infection with Mycobacterium xenopi.	DOVES_relaxed.owl
MONDO:0043314	biolink:NamedThing	aquarium granuloma	A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure.	DOVES_relaxed.owl
MONDO:0000330	biolink:NamedThing	endemic typhus	A bacterial infection caused by Rickettsia typhi.	DOVES_relaxed.owl
MONDO:0019362	biolink:NamedThing	epidemic louse-borne typhus	A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis.	DOVES_relaxed.owl
MONDO:0019365	biolink:NamedThing	scrub typhus	Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious.	DOVES_relaxed.owl
MONDO:0024416	biolink:NamedThing	Neorickettsia infectious disease	A disease caused by infection with Neorickettsia.	DOVES_relaxed.owl
MONDO:0000333	biolink:NamedThing	early congenital syphilis	A congenital syphilis that is manifested between 0 and 2 years old.	DOVES_relaxed.owl
MONDO:0005714	biolink:NamedThing	congenital syphilis	A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia.	DOVES_relaxed.owl
MONDO:0005821	biolink:NamedThing	late congenital syphilis		DOVES_relaxed.owl
MONDO:0006869	biolink:NamedThing	nodular goiter	Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones.	DOVES_relaxed.owl
MONDO:0000335	biolink:NamedThing	parenchymatous neurosyphilis	A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy.	DOVES_relaxed.owl
MONDO:0004944	biolink:NamedThing	neurosyphilis	Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia.	DOVES_relaxed.owl
MONDO:0000336	biolink:NamedThing	meningovascular neurosyphilis	A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries.	DOVES_relaxed.owl
MONDO:0000927	biolink:NamedThing	asymptomatic neurosyphilis		DOVES_relaxed.owl
MONDO:0005977	biolink:NamedThing	tabes dorsalis	A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints.	DOVES_relaxed.owl
MONDO:0005108	biolink:NamedThing	viral infectious disease	Any disease caused by a virus.	DOVES_relaxed.owl
MONDO:0002595	biolink:NamedThing	vaccinia	The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine.	DOVES_relaxed.owl
MONDO:0005055	biolink:NamedThing	Kaposi's sarcoma	A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).	DOVES_relaxed.owl
MONDO:0005717	biolink:NamedThing	contagious pustular dermatitis	An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans.	DOVES_relaxed.owl
MONDO:0005751	biolink:NamedThing	epidemic pleurodynia	An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses.	DOVES_relaxed.owl
MONDO:0005791	biolink:NamedThing	herpangina	A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.	DOVES_relaxed.owl
MONDO:0005801	biolink:NamedThing	human T-lymphotropic virus 1 infectious disease	A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.	DOVES_relaxed.owl
MONDO:0005830	biolink:NamedThing	lumpy skin disease	A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin.	DOVES_relaxed.owl
MONDO:0005850	biolink:NamedThing	milker's nodule	Virus diseases caused by the poxviridae.	DOVES_relaxed.owl
MONDO:0005855	biolink:NamedThing	molluscum contagiosum	A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0005875	biolink:NamedThing	Newcastle disease	A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea.	DOVES_relaxed.owl
MONDO:0005911	biolink:NamedThing	pharyngoconjunctival fever	A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus.	DOVES_relaxed.owl
MONDO:0005932	biolink:NamedThing	pseudorabies	A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals.	DOVES_relaxed.owl
MONDO:0005939	biolink:NamedThing	Reoviridae infectious disease	Infections produced by reoviruses, general or unspecified.	DOVES_relaxed.owl
MONDO:0016101	biolink:NamedThing	neurolymphomatosis	A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye.	DOVES_relaxed.owl
MONDO:0018093	biolink:NamedThing	arbovirus fever	Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.	DOVES_relaxed.owl
MONDO:0018107	biolink:NamedThing	idiopathic recurrent and disabling cutaneous herpes		DOVES_relaxed.owl
MONDO:0018110	biolink:NamedThing	lethal idiopathic viral infection		DOVES_relaxed.owl
MONDO:0018583	biolink:NamedThing	human infection by orthopoxvirus		DOVES_relaxed.owl
MONDO:0019094	biolink:NamedThing	congenital Epstein-Barr virus infection	Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.	DOVES_relaxed.owl
MONDO:0019173	biolink:NamedThing	rabies	Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.	DOVES_relaxed.owl
MONDO:0020950	biolink:NamedThing	viral eye infection	Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus.	DOVES_relaxed.owl
MONDO:0024352	biolink:NamedThing	viral respiratory tract infection	A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus.	DOVES_relaxed.owl
MONDO:0100163	biolink:NamedThing	COVID-19–associated multisystem inflammatory syndrome in children	A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms.	DOVES_relaxed.owl
MONDO:0100329	biolink:NamedThing	primary viral infectious disease	The initial viral infectious disase that causes illness.	DOVES_relaxed.owl
MONDO:0100330	biolink:NamedThing	disease arising from reactivation of latent virus	An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase.	DOVES_relaxed.owl
MONDO:0006547	biolink:NamedThing	exanthem	Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful.	DOVES_relaxed.owl
MONDO:0006528	biolink:NamedThing	bacterial exanthem	A bacteria-induced exanthem	DOVES_relaxed.owl
MONDO:0006601	biolink:NamedThing	pityriasis rosea	A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated.	DOVES_relaxed.owl
MONDO:0006619	biolink:NamedThing	viral exanthem	A virus-induced exanthem	DOVES_relaxed.owl
MONDO:0021739	biolink:NamedThing	prurigo	A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0024249	biolink:NamedThing	pityriasis lichenoides	A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica).	DOVES_relaxed.owl
MONDO:0024343	biolink:NamedThing	pityriasis simplex		DOVES_relaxed.owl
MONDO:0024344	biolink:NamedThing	pityriasis folliculorum		DOVES_relaxed.owl
MONDO:0024345	biolink:NamedThing	pityriasis streptogenes		DOVES_relaxed.owl
MONDO:0024346	biolink:NamedThing	pityriasis amiantacea		DOVES_relaxed.owl
MONDO:0024349	biolink:NamedThing	pityriasis alba		DOVES_relaxed.owl
MONDO:0024350	biolink:NamedThing	pityriasis steatoides		DOVES_relaxed.owl
MONDO:0100017	biolink:NamedThing	pityriasis rubra pilaris	A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP).	DOVES_relaxed.owl
MONDO:0004651	biolink:NamedThing	smallpox	A condition that is caused by infection with Variola, and that is characterized by small, raised bumps.	DOVES_relaxed.owl
MONDO:0004720	biolink:NamedThing	variola minor infection	A orthopoxvirus that causes a milder clinical syndrome than smallpox.	DOVES_relaxed.owl
MONDO:0000339	biolink:NamedThing	spinal polio	A paralytic poliomyelitis in which the site of paralysis is the spinal cord.	DOVES_relaxed.owl
MONDO:0000341	biolink:NamedThing	paralytic poliomyelitis	A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis.	DOVES_relaxed.owl
MONDO:0000340	biolink:NamedThing	bulbospinal polio	A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract.	DOVES_relaxed.owl
MONDO:0005684	biolink:NamedThing	bulbar polio	A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)	DOVES_relaxed.owl
MONDO:0003231	biolink:NamedThing	acute nonparalytic poliomyelitis	A poliomyelitis that does not exhibit paralysis.	DOVES_relaxed.owl
MONDO:0017416	biolink:NamedThing	postpoliomyelitis syndrome	Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.	DOVES_relaxed.owl
MONDO:0005643	biolink:NamedThing	Alphavirus infectious disease	Virus diseases caused by members of the alphavirus genus of the family togaviridae.	DOVES_relaxed.owl
MONDO:0000343	biolink:NamedThing	Barmah forest virus disease	A disease caused by infection with Barmah Forest virus.	DOVES_relaxed.owl
MONDO:0019380	biolink:NamedThing	western equine encephalitis	An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.	DOVES_relaxed.owl
MONDO:0021641	biolink:NamedThing	Bunyaviridae infectious disease	Virus diseases caused by the bunyaviridae.	DOVES_relaxed.owl
MONDO:0005780	biolink:NamedThing	hantavirus infectious disease	Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome.	DOVES_relaxed.owl
MONDO:0019378	biolink:NamedThing	la Crosse encephalitis	La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.	DOVES_relaxed.owl
MONDO:0000351	biolink:NamedThing	disorder of methionine catabolism	An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process.	DOVES_relaxed.owl
MONDO:0000688	biolink:NamedThing	inborn organic aciduria	An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.	DOVES_relaxed.owl
MONDO:0000698	biolink:NamedThing	gamma-amino butyric acid metabolism disorder	An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.	DOVES_relaxed.owl
MONDO:0004737	biolink:NamedThing	homocystinuria	An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.	DOVES_relaxed.owl
MONDO:0004739	biolink:NamedThing	urea cycle disorder	A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.	DOVES_relaxed.owl
MONDO:0007068	biolink:NamedThing	adenylosuccinate lyase deficiency	Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.	DOVES_relaxed.owl
MONDO:0009058	biolink:NamedThing	cystathioninuria	Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.	DOVES_relaxed.owl
MONDO:0009388	biolink:NamedThing	hyperlysinemia	Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.	DOVES_relaxed.owl
MONDO:0010379	biolink:NamedThing	Brunner syndrome	Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.	DOVES_relaxed.owl
MONDO:0019216	biolink:NamedThing	inborn disorder of amino acid transport		DOVES_relaxed.owl
MONDO:0019228	biolink:NamedThing	inborn disorder of histidine metabolism	An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process.	DOVES_relaxed.owl
MONDO:0019235	biolink:NamedThing	inborn disorder of phenylalanine and tyrosine metabolism		DOVES_relaxed.owl
MONDO:0019242	biolink:NamedThing	inborn disorder of branched-chain amino acid metabolism	An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.	DOVES_relaxed.owl
MONDO:0021915	biolink:NamedThing	arakawa syndrome 2	A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.	DOVES_relaxed.owl
MONDO:0022321	biolink:NamedThing	2-methylacetoacetyl CoA thiolase deficiency		DOVES_relaxed.owl
MONDO:0043209	biolink:NamedThing	albinism	A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin.	DOVES_relaxed.owl
MONDO:0800154	biolink:NamedThing	inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of sulfur-containing amino acids and/or hydrogen sulfide.	DOVES_relaxed.owl
MONDO:0800155	biolink:NamedThing	inborn disorder of glycine and serine metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glycine and/or serine.	DOVES_relaxed.owl
MONDO:0800156	biolink:NamedThing	inborn disorder of ornithine, proline and hydroxyproline metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of ornithine, proline and/or hydroxyproline.	DOVES_relaxed.owl
MONDO:0800157	biolink:NamedThing	inborn disorder of lysine, hydroxylysine, and tryptophan metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of lysine, hydroxylysine, and/or tryptophan.	DOVES_relaxed.owl
MONDO:0800158	biolink:NamedThing	inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glutamate/glutamine and aspartate/asparagine.	DOVES_relaxed.owl
MONDO:0800331	biolink:NamedThing	hyperglycinemia, transient neonatal		DOVES_relaxed.owl
MONDO:0019222	biolink:NamedThing	inborn disorder of methionine cycle and sulfur amino acid metabolism	An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.	DOVES_relaxed.owl
MONDO:0009607	biolink:NamedThing	methionine adenosyltransferase deficiency	Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.	DOVES_relaxed.owl
MONDO:0037938	biolink:NamedThing	inborn disorder of aspartate family metabolism	An inherited metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.	DOVES_relaxed.owl
MONDO:0017351	biolink:NamedThing	inborn disorder of lysine and hydroxylysine metabolism		DOVES_relaxed.owl
MONDO:0009680	biolink:NamedThing	congenital muscular dystrophy-infantile cataract-hypogonadism syndrome	Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0009682	biolink:NamedThing	muscular dystrophy, congenital, with rapid progression		DOVES_relaxed.owl
MONDO:0011246	biolink:NamedThing	megaconial type congenital muscular dystrophy		DOVES_relaxed.owl
MONDO:0011486	biolink:NamedThing	congenital muscular dystrophy 1B	Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.	DOVES_relaxed.owl
MONDO:0011925	biolink:NamedThing	congenital merosin-deficient muscular dystrophy 1A	Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.	DOVES_relaxed.owl
MONDO:0012279	biolink:NamedThing	congenital muscular dystrophy merosin-positive	The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. Itusually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans.	DOVES_relaxed.owl
MONDO:0013177	biolink:NamedThing	congenital muscular dystrophy due to integrin alpha-7 deficiency	Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.	DOVES_relaxed.owl
MONDO:0013178	biolink:NamedThing	congenital muscular dystrophy due to LMNA mutation	Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.	DOVES_relaxed.owl
MONDO:0014896	biolink:NamedThing	congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome		DOVES_relaxed.owl
MONDO:0016049	biolink:NamedThing	congenital myopathy, Paradas type	Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.	DOVES_relaxed.owl
MONDO:0018281	biolink:NamedThing	congenital muscular dystrophy with hyperlaxity	Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.	DOVES_relaxed.owl
MONDO:0019951	biolink:NamedThing	rigid spine syndrome	Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.	DOVES_relaxed.owl
MONDO:0024607	biolink:NamedThing	congenital muscular dystrophy with cataracts and intellectual disability	A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.	DOVES_relaxed.owl
MONDO:0700075	biolink:NamedThing	congenital muscular dystrophy caused by variation in POMGNT2	Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene.	DOVES_relaxed.owl
MONDO:0023369	biolink:NamedThing	disorder of facial skeleton	A disease that involves the facial skeleton.	DOVES_relaxed.owl
MONDO:0004047	biolink:NamedThing	sphenoidal sinus neoplasm	A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	DOVES_relaxed.owl
MONDO:0004312	biolink:NamedThing	suprasellar meningioma	A meningioma that affects the suprasellar region.	DOVES_relaxed.owl
MONDO:0004339	biolink:NamedThing	tuberculum sellae meningioma	A meningioma that affects the tuberculum sellae.	DOVES_relaxed.owl
MONDO:0005756	biolink:NamedThing	ethmoid sinusitis	An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus.	DOVES_relaxed.owl
MONDO:0005842	biolink:NamedThing	maxillary sinusitis	An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus.	DOVES_relaxed.owl
MONDO:0005964	biolink:NamedThing	sphenoid sinusitis	An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus.	DOVES_relaxed.owl
MONDO:0006577	biolink:NamedThing	maxillary sinus cholesteatoma	A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment.	DOVES_relaxed.owl
MONDO:0015411	biolink:NamedThing	facial cleft	A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences.	DOVES_relaxed.owl
MONDO:0015482	biolink:NamedThing	otomandibular dysplasia		DOVES_relaxed.owl
MONDO:0015496	biolink:NamedThing	macroglossia	The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)	DOVES_relaxed.owl
MONDO:0015497	biolink:NamedThing	hypoglossia/aglossia		DOVES_relaxed.owl
MONDO:0015499	biolink:NamedThing	paralytic facial malformation		DOVES_relaxed.owl
MONDO:0016034	biolink:NamedThing	cleft lip with or without cleft palate		DOVES_relaxed.owl
MONDO:0016221	biolink:NamedThing	temporomandibular joint anomaly		DOVES_relaxed.owl
MONDO:0017628	biolink:NamedThing	myospherulosis		DOVES_relaxed.owl
MONDO:0018166	biolink:NamedThing	oral submucous fibrosis	Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.	DOVES_relaxed.owl
MONDO:0018907	biolink:NamedThing	craniopharyngioma	A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0021404	biolink:NamedThing	polyp of sphenoidal sinus	A polyp that involves the sphenoidal sinus.	DOVES_relaxed.owl
MONDO:0021412	biolink:NamedThing	polyp of maxillary sinus	A polyp that involves the maxillary sinus.	DOVES_relaxed.owl
MONDO:0021580	biolink:NamedThing	neoplasm of jaw	A neoplasm (disease) that involves the jaw skeleton.	DOVES_relaxed.owl
MONDO:0024611	biolink:NamedThing	orbit neoplasm	A benign or malignant neoplasm that affects the orbit.	DOVES_relaxed.owl
MONDO:0033839	biolink:NamedThing	osteoradionecrosis of the mandible		DOVES_relaxed.owl
MONDO:0000359	biolink:NamedThing	spondylocostal dysostosis	Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital).	DOVES_relaxed.owl
MONDO:0000518	biolink:NamedThing	sacrum chordoma	A chordoma (disease) that involves the fused sacrum.	DOVES_relaxed.owl
MONDO:0002713	biolink:NamedThing	epidural spinal canal neoplasm	A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord.	DOVES_relaxed.owl
MONDO:0003956	biolink:NamedThing	Baastrup syndrome		DOVES_relaxed.owl
MONDO:0004077	biolink:NamedThing	lumbosacral lipoma	A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine.	DOVES_relaxed.owl
MONDO:0005965	biolink:NamedThing	spinal stenosis	Narrowing of the spinal canal.	DOVES_relaxed.owl
MONDO:0022792	biolink:NamedThing	coccygodynia	Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury.	DOVES_relaxed.owl
MONDO:0037747	biolink:NamedThing	spinal injury	A injury that involves the vertebral column.	DOVES_relaxed.owl
MONDO:0037847	biolink:NamedThing	vertebral joint disorder	A disease that involves the intervertebral joint.	DOVES_relaxed.owl
MONDO:0042727	biolink:NamedThing	sacrococcygeal teratoma	A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.	DOVES_relaxed.owl
MONDO:0043836	biolink:NamedThing	tuberculosis, spinal	Tuberculosis of the vertebrae.	DOVES_relaxed.owl
MONDO:0045002	biolink:NamedThing	vertebral disorder	A disease or disorder that involves the vertebra.	DOVES_relaxed.owl
MONDO:0100201	biolink:NamedThing	lumbar disc disease	A vertebral column disorder caused by degeneration of intervertebral discs of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants.	DOVES_relaxed.owl
MONDO:0002457	biolink:NamedThing	Treacher-Collins syndrome	Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.	DOVES_relaxed.owl
MONDO:0007034	biolink:NamedThing	Adams-Oliver syndrome	Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.	DOVES_relaxed.owl
MONDO:0007072	biolink:NamedThing	ADULT syndrome	ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.	DOVES_relaxed.owl
MONDO:0007124	biolink:NamedThing	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.	DOVES_relaxed.owl
MONDO:0007127	biolink:NamedThing	diffuse idiopathic skeletal hyperostosis	This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms.	DOVES_relaxed.owl
MONDO:0007142	biolink:NamedThing	Townes-Brocks syndrome	Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.	DOVES_relaxed.owl
MONDO:0007211	biolink:NamedThing	brachydactyly-arterial hypertension syndrome	Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.	DOVES_relaxed.owl
MONDO:0007225	biolink:NamedThing	fibular aplasia-ectrodactyly syndrome	Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.	DOVES_relaxed.owl
MONDO:0007230	biolink:NamedThing	Brachymorphism-onychodysplasia-dysphalangism syndrome	Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.	DOVES_relaxed.owl
MONDO:0007231	biolink:NamedThing	brachytelephalangy-dysmorphism-Kallmann syndrome	Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.	DOVES_relaxed.owl
MONDO:0007330	biolink:NamedThing	congenital pseudoarthrosis of clavicle	Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.	DOVES_relaxed.owl
MONDO:0007698	biolink:NamedThing	hand-foot-genital syndrome	Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.	DOVES_relaxed.owl
MONDO:0007712	biolink:NamedThing	oculoauriculovertebral spectrum with radial defects	Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.	DOVES_relaxed.owl
MONDO:0007836	biolink:NamedThing	IVIC syndrome	IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.	DOVES_relaxed.owl
MONDO:0008139	biolink:NamedThing	OSLAM syndrome	OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia.	DOVES_relaxed.owl
MONDO:0008237	biolink:NamedThing	phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome	Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.	DOVES_relaxed.owl
MONDO:0008298	biolink:NamedThing	postaxial tetramelic oligodactyly	Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.	DOVES_relaxed.owl
MONDO:0008359	biolink:NamedThing	radio-renal syndrome	Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.	DOVES_relaxed.owl
MONDO:0008460	biolink:NamedThing	splenogonadal fusion-limb defects-micrognathia syndrome	Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.	DOVES_relaxed.owl
MONDO:0008466	biolink:NamedThing	Karsch-Neugebauer syndrome	Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.	DOVES_relaxed.owl
MONDO:0008510	biolink:NamedThing	symphalangism with multiple anomalies of hands and feet	Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981.	DOVES_relaxed.owl
MONDO:0008511	biolink:NamedThing	proximal symphalangism	Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.	DOVES_relaxed.owl
MONDO:0008521	biolink:NamedThing	tarsal-carpal coalition syndrome	Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.	DOVES_relaxed.owl
MONDO:0008544	biolink:NamedThing	tetramelic monodactyly	Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.	DOVES_relaxed.owl
MONDO:0008611	biolink:NamedThing	humerus trochlea aplasia	Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.	DOVES_relaxed.owl
MONDO:0008806	biolink:NamedThing	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.	DOVES_relaxed.owl
MONDO:0008899	biolink:NamedThing	camptodactyly syndrome, Guadalajara type 2	Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.	DOVES_relaxed.owl
MONDO:0009080	biolink:NamedThing	split hand-foot malformation 1 with sensorineural hearing loss	Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.	DOVES_relaxed.owl
MONDO:0009204	biolink:NamedThing	lethal faciocardiomelic dysplasia	Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.	DOVES_relaxed.owl
MONDO:0009406	biolink:NamedThing	hypertrichotic osteochondrodysplasia Cantu type	Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.	DOVES_relaxed.owl
MONDO:0009516	biolink:NamedThing	absence deformity of leg-cataract syndrome	Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.	DOVES_relaxed.owl
MONDO:0009801	biolink:NamedThing	familial osteodysplasia, Anderson type	Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.	DOVES_relaxed.owl
MONDO:0009822	biolink:NamedThing	otoonychoperoneal syndrome		DOVES_relaxed.owl
MONDO:0010004	biolink:NamedThing	EEC syndrome	EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).	DOVES_relaxed.owl
MONDO:0010069	biolink:NamedThing	spondylocostal dysostosis-anal and genitourinary malformations syndrome	Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.	DOVES_relaxed.owl
MONDO:0010101	biolink:NamedThing	Teebi-Shaltout syndrome	Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.	DOVES_relaxed.owl
MONDO:0010110	biolink:NamedThing	tetraamelia-multiple malformations syndrome	Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	DOVES_relaxed.owl
MONDO:0010165	biolink:NamedThing	ulna hypoplasia-intellectual disability syndrome	Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.	DOVES_relaxed.owl
MONDO:0010718	biolink:NamedThing	absent radius-anogenital anomalies syndrome	Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.	DOVES_relaxed.owl
MONDO:0010750	biolink:NamedThing	ulnar hypoplasia-split foot syndrome	Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.	DOVES_relaxed.owl
MONDO:0010759	biolink:NamedThing	Wildervanck syndrome	Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness.	DOVES_relaxed.owl
MONDO:0010886	biolink:NamedThing	2q37 microdeletion syndrome	A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0011011	biolink:NamedThing	skeletal dysplasia-epilepsy-short stature syndrome	Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.	DOVES_relaxed.owl
MONDO:0011235	biolink:NamedThing	pelvic dysplasia-arthrogryposis of lower limbs syndrome		DOVES_relaxed.owl
MONDO:0011255	biolink:NamedThing	mandibulofacial dysostosis-macroblepharon-macrostomia syndrome		DOVES_relaxed.owl
MONDO:0011262	biolink:NamedThing	camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye	A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).	DOVES_relaxed.owl
MONDO:0011334	biolink:NamedThing	limb-mammary syndrome	Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.	DOVES_relaxed.owl
MONDO:0011555	biolink:NamedThing	radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).	DOVES_relaxed.owl
MONDO:0011732	biolink:NamedThing	familial digital arthropathy-brachydactyly	Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.	DOVES_relaxed.owl
MONDO:0012282	biolink:NamedThing	Al-Gazali syndrome	An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.	DOVES_relaxed.owl
MONDO:0012504	biolink:NamedThing	camptodactyly-tall stature-scoliosis-hearing loss syndrome	Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.	DOVES_relaxed.owl
MONDO:0012637	biolink:NamedThing	COG1-congenital disorder of glycosylation	COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0012980	biolink:NamedThing	endocrine-cerebro-osteodysplasia syndrome	Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.	DOVES_relaxed.owl
MONDO:0013368	biolink:NamedThing	mammary-digital-nail syndrome	Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.	DOVES_relaxed.owl
MONDO:0014369	biolink:NamedThing	postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.	DOVES_relaxed.owl
MONDO:0014401	biolink:NamedThing	tall stature-scoliosis-macrodactyly of the great toes syndrome	Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.	DOVES_relaxed.owl
MONDO:0014816	biolink:NamedThing	split-foot malformation-mesoaxial polydactyly syndrome		DOVES_relaxed.owl
MONDO:0015232	biolink:NamedThing	radial deficiency-tibial hypoplasia syndrome		DOVES_relaxed.owl
MONDO:0015255	biolink:NamedThing	blepharophimosis-radioulnar synostosis syndrome		DOVES_relaxed.owl
MONDO:0015267	biolink:NamedThing	Feingold syndrome	Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.	DOVES_relaxed.owl
MONDO:0015469	biolink:NamedThing	craniosynostosis	Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.	DOVES_relaxed.owl
MONDO:0015525	biolink:NamedThing	congenital pseudoarthrosis of the limbs		DOVES_relaxed.owl
MONDO:0015824	biolink:NamedThing	oculomaxillofacial dysostosis	Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.	DOVES_relaxed.owl
MONDO:0016024	biolink:NamedThing	shoulder and thorax deformity-congenital heart disease syndrome		DOVES_relaxed.owl
MONDO:0016046	biolink:NamedThing	familial clubfoot with or without associated lower limb anomalies	Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.	DOVES_relaxed.owl
MONDO:0016087	biolink:NamedThing	progressive non-infectious anterior vertebral fusion	Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.	DOVES_relaxed.owl
MONDO:0016432	biolink:NamedThing	heart-hand syndrome	Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies.	DOVES_relaxed.owl
MONDO:0016576	biolink:NamedThing	split hand-foot malformation	Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.	DOVES_relaxed.owl
MONDO:0016596	biolink:NamedThing	hyperphosphatasia-intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0016622	biolink:NamedThing	Melhem-Fahl syndrome	Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.	DOVES_relaxed.owl
MONDO:0016641	biolink:NamedThing	limb transversal defect-cardiac anomaly syndrome		DOVES_relaxed.owl
MONDO:0016643	biolink:NamedThing	frontonasal dysplasia	A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.	DOVES_relaxed.owl
MONDO:0017139	biolink:NamedThing	oromandibular-limb hypogenesis syndrome	Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	DOVES_relaxed.owl
MONDO:0017162	biolink:NamedThing	imperforate oropharynx-costo vetebral anomalies syndrome	Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.	DOVES_relaxed.owl
MONDO:0017429	biolink:NamedThing	joint formation defects		DOVES_relaxed.owl
MONDO:0017923	biolink:NamedThing	multiple synostoses syndrome	Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.	DOVES_relaxed.owl
MONDO:0017980	biolink:NamedThing	syngnathia multiple anomalies		DOVES_relaxed.owl
MONDO:0018000	biolink:NamedThing	hereditary thrombocytosis with transverse limb defect	Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.	DOVES_relaxed.owl
MONDO:0018050	biolink:NamedThing	tibial aplasia-ectrodactyly syndrome	Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.	DOVES_relaxed.owl
MONDO:0018228	biolink:NamedThing	bipartite talus	Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.	DOVES_relaxed.owl
MONDO:0018237	biolink:NamedThing	acrofacial dysostosis		DOVES_relaxed.owl
MONDO:0019413	biolink:NamedThing	ischio-vertebral syndrome	Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.	DOVES_relaxed.owl
MONDO:0019712	biolink:NamedThing	patellar dysostosis		DOVES_relaxed.owl
MONDO:0019713	biolink:NamedThing	non-syndromic limb reduction defect		DOVES_relaxed.owl
MONDO:0019714	biolink:NamedThing	non-syndromic polydactyly, syndactyly and/or hyperphalangy		DOVES_relaxed.owl
MONDO:0021002	biolink:NamedThing	syndactyly	A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms.	DOVES_relaxed.owl
MONDO:0021003	biolink:NamedThing	polydactyly	A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms.	DOVES_relaxed.owl
MONDO:0021004	biolink:NamedThing	brachydactyly	A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms.	DOVES_relaxed.owl
MONDO:0800075	biolink:NamedThing	dysostosis with predominant vertebral with and without costal involvement	Any dysostosis that involves the vertebrae, with or without involvement of the the ribs or the upper sides of the body.	DOVES_relaxed.owl
MONDO:0000363	biolink:NamedThing	gummatous syphilis	A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.	DOVES_relaxed.owl
MONDO:0004497	biolink:NamedThing	tertiary syphilis	A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis).	DOVES_relaxed.owl
MONDO:0004911	biolink:NamedThing	cardiovascular syphilis	A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.	DOVES_relaxed.owl
MONDO:0040923	biolink:NamedThing	late latent syphilis	Latent syphilis when infection was acquired more than twelve months previously.	DOVES_relaxed.owl
MONDO:0000365	biolink:NamedThing	primary congenital glaucoma	Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.	DOVES_relaxed.owl
MONDO:0020366	biolink:NamedThing	congenital glaucoma	A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.	DOVES_relaxed.owl
MONDO:0009277	biolink:NamedThing	glaucoma 3A	An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1.	DOVES_relaxed.owl
MONDO:0010968	biolink:NamedThing	glaucoma 3, primary infantile, B		DOVES_relaxed.owl
MONDO:0011129	biolink:NamedThing	glaucoma type 1C		DOVES_relaxed.owl
MONDO:0014998	biolink:NamedThing	glaucoma 3, primary congenital, E		DOVES_relaxed.owl
MONDO:0008412	biolink:NamedThing	intestinal schistosomiasis	An intestinal infection that is caused by Schistosoma japonicum.	DOVES_relaxed.owl
MONDO:0000368	biolink:NamedThing	extrapulmonary tuberculosis	A tuberculosis that occurs at body sites other than the lung.	DOVES_relaxed.owl
MONDO:0021804	biolink:NamedThing	silicotuberculosis	Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population.	DOVES_relaxed.owl
MONDO:0021943	biolink:NamedThing	tuberculoma	A tumor-like mass resulting from the enlargement of a tuberculous lesion.	DOVES_relaxed.owl
MONDO:0040753	biolink:NamedThing	latent tuberculosis infection	Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives.	DOVES_relaxed.owl
MONDO:0041806	biolink:NamedThing	drug-resistant tuberculosis	Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications.	DOVES_relaxed.owl
MONDO:0100481	biolink:NamedThing	active tuberculosis	Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease.	DOVES_relaxed.owl
MONDO:0000369	biolink:NamedThing	abdominal tuberculosis	An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas.	DOVES_relaxed.owl
MONDO:0000813	biolink:NamedThing	cardiac tuberculosis	Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium.	DOVES_relaxed.owl
MONDO:0005696	biolink:NamedThing	central nervous system tuberculosis	A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals.	DOVES_relaxed.owl
MONDO:0005848	biolink:NamedThing	miliary tuberculosis	I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma.	DOVES_relaxed.owl
MONDO:0005903	biolink:NamedThing	pericardial tuberculosis	Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart.	DOVES_relaxed.owl
MONDO:0005922	biolink:NamedThing	pleural tuberculosis	Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis.	DOVES_relaxed.owl
MONDO:0006838	biolink:NamedThing	lupus vulgaris	A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa.	DOVES_relaxed.owl
MONDO:0006876	biolink:NamedThing	ocular tuberculosis	Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid.	DOVES_relaxed.owl
MONDO:0021948	biolink:NamedThing	cutaneous tuberculosis		DOVES_relaxed.owl
MONDO:0000371	biolink:NamedThing	oral cavity carcinoma in situ	A in situ carcinoma that involves the oral cavity.	DOVES_relaxed.owl
MONDO:0004647	biolink:NamedThing	in situ carcinoma	A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion.	DOVES_relaxed.owl
MONDO:0000372	biolink:NamedThing	pharynx carcinoma in situ	Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.	DOVES_relaxed.owl
MONDO:0000373	biolink:NamedThing	gall bladder carcinoma in situ	A carcinoma in situ involving a gall bladder.	DOVES_relaxed.owl
MONDO:0003218	biolink:NamedThing	adenocarcinoma in situ	A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics.	DOVES_relaxed.owl
MONDO:0003784	biolink:NamedThing	nasal cavity carcinoma in situ	A in situ carcinoma that involves the nasal cavity.	DOVES_relaxed.owl
MONDO:0004641	biolink:NamedThing	skin carcinoma in situ	A in situ carcinoma that involves the zone of skin.	DOVES_relaxed.owl
MONDO:0004658	biolink:NamedThing	breast carcinoma in situ	A in situ carcinoma that involves the breast.	DOVES_relaxed.owl
MONDO:0004659	biolink:NamedThing	eye carcinoma in situ	A carcinoma in situ involving a eye.	DOVES_relaxed.owl
MONDO:0004660	biolink:NamedThing	lung carcinoma in situ	A carcinoma in situ involving a lung.	DOVES_relaxed.owl
MONDO:0004693	biolink:NamedThing	squamous carcinoma in situ	A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues.	DOVES_relaxed.owl
MONDO:0004696	biolink:NamedThing	larynx carcinoma in situ	A in situ carcinoma that involves the larynx.	DOVES_relaxed.owl
MONDO:0004698	biolink:NamedThing	intestine carcinoma in situ	A carcinoma in situ involving a intestine.	DOVES_relaxed.owl
MONDO:0004703	biolink:NamedThing	bladder carcinoma in situ	Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)	DOVES_relaxed.owl
MONDO:0004708	biolink:NamedThing	esophagus carcinoma in situ	Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)	DOVES_relaxed.owl
MONDO:0004710	biolink:NamedThing	uterus carcinoma in situ	A carcinoma in situ involving a uterus.	DOVES_relaxed.owl
MONDO:0004715	biolink:NamedThing	liver carcinoma in situ	A carcinoma in situ involving a liver.	DOVES_relaxed.owl
MONDO:0004716	biolink:NamedThing	stomach carcinoma in situ	A in situ carcinoma that involves the stomach.	DOVES_relaxed.owl
MONDO:0004732	biolink:NamedThing	kidney carcinoma in situ	A carcinoma in situ involving a kidney.	DOVES_relaxed.owl
MONDO:0006234	biolink:NamedThing	grade III prostatic intraepithelial neoplasia	High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities.	DOVES_relaxed.owl
MONDO:0021284	biolink:NamedThing	carcinoma in situ of ureter	A in situ carcinoma that involves the ureter.	DOVES_relaxed.owl
MONDO:0021285	biolink:NamedThing	carcinoma in situ of urethra	A in situ carcinoma that involves the urethra.	DOVES_relaxed.owl
MONDO:0044925	biolink:NamedThing	oral cavity carcinoma	A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma.	DOVES_relaxed.owl
MONDO:0000521	biolink:NamedThing	salivary gland carcinoma	A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.	DOVES_relaxed.owl
MONDO:0004958	biolink:NamedThing	oral cavity squamous cell carcinoma	A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status.	DOVES_relaxed.owl
MONDO:0021329	biolink:NamedThing	carcinoma of soft palate	A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas.	DOVES_relaxed.owl
MONDO:0021333	biolink:NamedThing	carcinoma of lip	A carcinoma that involves the lip.	DOVES_relaxed.owl
MONDO:0021339	biolink:NamedThing	carcinoma of hard palate	A carcinoma that involves the hard palate.	DOVES_relaxed.owl
MONDO:0044964	biolink:NamedThing	oral cavity mucoepidermoid carcinoma	A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination.	DOVES_relaxed.owl
MONDO:0021345	biolink:NamedThing	carcinoma of pharynx	A carcinoma that involves the pharynx.	DOVES_relaxed.owl
MONDO:0000536	biolink:NamedThing	pharyngeal squamous cell carcinoma	A squamous cell carcinoma that arises from the pharynx.	DOVES_relaxed.owl
MONDO:0005216	biolink:NamedThing	hypopharyngeal carcinoma	Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx.	DOVES_relaxed.owl
MONDO:0006367	biolink:NamedThing	pharyngeal adenoid cystic carcinoma	An adenoid cystic carcinoma that arises from the pharynx.	DOVES_relaxed.owl
MONDO:0015459	biolink:NamedThing	nasopharyngeal carcinoma	A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma.	DOVES_relaxed.owl
MONDO:0044926	biolink:NamedThing	oropharyngeal carcinoma	Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx.	DOVES_relaxed.owl
MONDO:0003220	biolink:NamedThing	gallbladder carcinoma	A carcinoma that arises from epithelial cells of the gall bladder	DOVES_relaxed.owl
MONDO:0006215	biolink:NamedThing	gallbladder adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the gall bladder.	DOVES_relaxed.owl
MONDO:0006219	biolink:NamedThing	gallbladder small cell neuroendocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells.	DOVES_relaxed.owl
MONDO:0006220	biolink:NamedThing	gallbladder squamous cell carcinoma	A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells.	DOVES_relaxed.owl
MONDO:0006476	biolink:NamedThing	undifferentiated gallbladder carcinoma	A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma.	DOVES_relaxed.owl
MONDO:0000374	biolink:NamedThing	bile duct carcinoma in situ	A carcinoma in situ involving a bile duct.	DOVES_relaxed.owl
MONDO:0005496	biolink:NamedThing	bile duct carcinoma	A carcinoma that arises from epithelial cells of the bile duct	DOVES_relaxed.owl
MONDO:0003090	biolink:NamedThing	extrahepatic bile duct carcinoma	A carcinoma that arises from epithelial cells of the extrahepatic bile duct.	DOVES_relaxed.owl
MONDO:0003193	biolink:NamedThing	bile duct adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the bile duct	DOVES_relaxed.owl
MONDO:0003500	biolink:NamedThing	squamous cell bile duct carcinoma	A squamous cell carcinoma that involves the bile duct.	DOVES_relaxed.owl
MONDO:0000375	biolink:NamedThing	bronchus carcinoma in situ	A carcinoma in situ involving a bronchus.	DOVES_relaxed.owl
MONDO:0002806	biolink:NamedThing	bronchogenic carcinoma	A lung carcinoma arising from the bronchial epithelium.	DOVES_relaxed.owl
MONDO:0000531	biolink:NamedThing	bronchus mucoepidermoid carcinoma	A mucoepidermoid carcinoma that involves the bronchus.	DOVES_relaxed.owl
MONDO:0000503	biolink:NamedThing	lung adenocarcinoma in situ	A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion.	DOVES_relaxed.owl
MONDO:0004992	biolink:NamedThing	cancer	A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.	DOVES_relaxed.owl
MONDO:0000621	biolink:NamedThing	immune system cancer	A malignant neoplasm involving the immune system	DOVES_relaxed.owl
MONDO:0000637	biolink:NamedThing	musculoskeletal system cancer	A malignant neoplasm involving the musculoskeletal system	DOVES_relaxed.owl
MONDO:0002087	biolink:NamedThing	peritoneum cancer	A malignant neoplasm involving the peritoneum	DOVES_relaxed.owl
MONDO:0002100	biolink:NamedThing	cardiovascular cancer	A primary or metastatic malignant neoplasm involving the cardiovascular system.	DOVES_relaxed.owl
MONDO:0002149	biolink:NamedThing	reproductive system cancer	A malignant neoplasm involving the reproductive organ	DOVES_relaxed.owl
MONDO:0002402	biolink:NamedThing	malignant giant cell tumor	A malignant neoplasm characterized by then presence of atypical giant cells.	DOVES_relaxed.owl
MONDO:0002516	biolink:NamedThing	digestive system cancer	A primary or metastatic malignant neoplasm involving any part of the digestive system.	DOVES_relaxed.owl
MONDO:0002813	biolink:NamedThing	lipomatous cancer	A malignant mesenchymal neoplasm arising from adipocytes.	DOVES_relaxed.owl
MONDO:0003274	biolink:NamedThing	thoracic cancer	A primary or metastatic malignant neoplasm affecting the tissues of the thorax.	DOVES_relaxed.owl
MONDO:0003340	biolink:NamedThing	malignant glomus tumor	A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course.	DOVES_relaxed.owl
MONDO:0003633	biolink:NamedThing	malignant mesenchymoma	A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.	DOVES_relaxed.owl
MONDO:0004993	biolink:NamedThing	carcinoma	A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas.	DOVES_relaxed.owl
MONDO:0005089	biolink:NamedThing	sarcoma	A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.	DOVES_relaxed.owl
MONDO:0005565	biolink:NamedThing	blastoma	A malignant neoplasm composed of undifferentiated cells.	DOVES_relaxed.owl
MONDO:0005627	biolink:NamedThing	head and neck cancer	A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.	DOVES_relaxed.owl
MONDO:0005853	biolink:NamedThing	malignant mixed neoplasm	A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung.	DOVES_relaxed.owl
MONDO:0005872	biolink:NamedThing	nervous system cancer	A primary or metastatic malignant neoplasm involving the nervous system.	DOVES_relaxed.owl
MONDO:0005941	biolink:NamedThing	retroperitoneal cancer	A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas.	DOVES_relaxed.owl
MONDO:0006290	biolink:NamedThing	malignant germ cell tumor	A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma.	DOVES_relaxed.owl
MONDO:0006292	biolink:NamedThing	malignant mesothelioma	A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos.	DOVES_relaxed.owl
MONDO:0006295	biolink:NamedThing	malignant urinary system neoplasm	A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas.	DOVES_relaxed.owl
MONDO:0006517	biolink:NamedThing	childhood malignant neoplasm	A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor).	DOVES_relaxed.owl
MONDO:0020633	biolink:NamedThing	anaplastic cancer		DOVES_relaxed.owl
MONDO:0020663	biolink:NamedThing	malignant spindle cell neoplasm	A malignant neoplasm characterized by the presence of atypical spindle cells.	DOVES_relaxed.owl
MONDO:0020665	biolink:NamedThing	high grade malignant neoplasm		DOVES_relaxed.owl
MONDO:0021069	biolink:NamedThing	malignant endocrine neoplasm	A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.	DOVES_relaxed.owl
MONDO:0024637	biolink:NamedThing	malignant soft tissue neoplasm	A malignant neoplasm arising exclusively from the soft tissues.	DOVES_relaxed.owl
MONDO:0024881	biolink:NamedThing	secondary malignant neoplasm	A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.	DOVES_relaxed.owl
MONDO:0036501	biolink:NamedThing	refractory malignant neoplasm	A malignant neoplasm that does not respond to treatment.	DOVES_relaxed.owl
MONDO:0000377	biolink:NamedThing	malignant Leydig cell tumor	A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course.	DOVES_relaxed.owl
MONDO:0000378	biolink:NamedThing	malignant Sertoli cell tumor	A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site.	DOVES_relaxed.owl
MONDO:0001416	biolink:NamedThing	female reproductive organ cancer	A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma.	DOVES_relaxed.owl
MONDO:0001653	biolink:NamedThing	prepuce cancer	A malignant neoplasm involving the prepuce.	DOVES_relaxed.owl
MONDO:0005836	biolink:NamedThing	male reproductive organ cancer	A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma.	DOVES_relaxed.owl
MONDO:0027026	biolink:NamedThing	Buschke Lowenstein tumor	A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region.	DOVES_relaxed.owl
MONDO:0006266	biolink:NamedThing	Leydig cell tumor	A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course.	DOVES_relaxed.owl
MONDO:0003124	biolink:NamedThing	testicular Leydig cell tumor	A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics.	DOVES_relaxed.owl
MONDO:0036990	biolink:NamedThing	benign Leydig cell tumor	A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion.	DOVES_relaxed.owl
MONDO:0002696	biolink:NamedThing	Sertoli cell tumor	A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course.	DOVES_relaxed.owl
MONDO:0020808	biolink:NamedThing	testicular sertoli cell tumor	A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course.	DOVES_relaxed.owl
MONDO:0020809	biolink:NamedThing	benign sertoli cell tumor	A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site.	DOVES_relaxed.owl
MONDO:0000379	biolink:NamedThing	malignant Sertoli-Leydig cell tumor	A malignant form of Sertoli-leydig cell tumor.	DOVES_relaxed.owl
MONDO:0002479	biolink:NamedThing	Sertoli-Leydig cell tumor	A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens.	DOVES_relaxed.owl
MONDO:0005447	biolink:NamedThing	testicular cancer	A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma.	DOVES_relaxed.owl
MONDO:0001472	biolink:NamedThing	testicular lymphoma	A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site.	DOVES_relaxed.owl
MONDO:0001480	biolink:NamedThing	malignant tumor of undescended testis		DOVES_relaxed.owl
MONDO:0001482	biolink:NamedThing	testicular leukemia	A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03	DOVES_relaxed.owl
MONDO:0001992	biolink:NamedThing	rete testis adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the rete testis	DOVES_relaxed.owl
MONDO:0001993	biolink:NamedThing	seminal vesicle adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the seminal vesicle	DOVES_relaxed.owl
MONDO:0002698	biolink:NamedThing	testicular gonadoblastoma	A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells.	DOVES_relaxed.owl
MONDO:0002861	biolink:NamedThing	testis sarcoma	A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas.	DOVES_relaxed.owl
MONDO:0003510	biolink:NamedThing	malignant testicular germ cell tumor	A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor.	DOVES_relaxed.owl
MONDO:0003737	biolink:NamedThing	malignant testicular Leydig cell tumor	A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor.	DOVES_relaxed.owl
MONDO:0000380	biolink:NamedThing	paranasal sinus carcinoma	A malignant epithelial neoplasm arising in the paranasal sinus.	DOVES_relaxed.owl
MONDO:0002415	biolink:NamedThing	bone carcinoma	A carcinoma that involves the bone element.	DOVES_relaxed.owl
MONDO:0000514	biolink:NamedThing	bone squamous cell carcinoma	A squamous cell carcinoma that involves the bone tissue.	DOVES_relaxed.owl
MONDO:0002422	biolink:NamedThing	adamantinoma	A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton.	DOVES_relaxed.owl
MONDO:0003828	biolink:NamedThing	growth hormone-producing pituitary gland carcinoma	A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly.	DOVES_relaxed.owl
MONDO:0004275	biolink:NamedThing	osteosarcoma arising in bone Paget disease	A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis.	DOVES_relaxed.owl
MONDO:0006079	biolink:NamedThing	ameloblastic carcinoma	A rare, cytologically malignant ameloblastoma that may metastasize.	DOVES_relaxed.owl
MONDO:0017582	biolink:NamedThing	pituitary adenocarcinoma	A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly.	DOVES_relaxed.owl
MONDO:0024884	biolink:NamedThing	metastatic carcinoma in the bone	A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate.	DOVES_relaxed.owl
MONDO:0020669	biolink:NamedThing	paranasal sinus cancer	A primary or metastatic malignant neoplasm involving the paranasal sinuses.	DOVES_relaxed.owl
MONDO:0001743	biolink:NamedThing	paranasal sinus lymphoma	A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type.	DOVES_relaxed.owl
MONDO:0056819	biolink:NamedThing	nasal cavity and paranasal sinus carcinoma	A carcinoma arising from the nasal cavity or paranasal sinuses.	DOVES_relaxed.owl
MONDO:0044787	biolink:NamedThing	nasal cavity and paranasal sinus squamous cell carcinoma	A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group.	DOVES_relaxed.owl
MONDO:0000381	biolink:NamedThing	infiltrating renal pelvis transitional cell carcinoma	A infiltrating urothelial carcinoma that involves the renal pelvis.	DOVES_relaxed.owl
MONDO:0004010	biolink:NamedThing	infiltrating renal pelvis/ureter urothelial carcinoma		DOVES_relaxed.owl
MONDO:0020658	biolink:NamedThing	infiltrating ureter transitional cell carcinoma		DOVES_relaxed.owl
MONDO:0005221	biolink:NamedThing	renal pelvis urothelial carcinoma	A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas.	DOVES_relaxed.owl
MONDO:0003716	biolink:NamedThing	renal pelvis papillary urothelial carcinoma	A papillary transitional cell carcinoma that arises from the renal pelvis.	DOVES_relaxed.owl
MONDO:0004009	biolink:NamedThing	kidney pelvis sarcomatoid transitional cell carcinoma	An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features.	DOVES_relaxed.owl
MONDO:0005165	biolink:NamedThing	benign neoplasm	A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites.	DOVES_relaxed.owl
MONDO:0000383	biolink:NamedThing	benign reproductive system neoplasm	A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor.	DOVES_relaxed.owl
MONDO:0000385	biolink:NamedThing	benign digestive system neoplasm	A non-metastasizing neoplasm arising from any part of the digestive system.	DOVES_relaxed.owl
MONDO:0000627	biolink:NamedThing	benign endocrine neoplasm	A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma.	DOVES_relaxed.owl
MONDO:0000629	biolink:NamedThing	cardiovascular organ benign neoplasm	A benign neoplasm that involves the cardiovascular system.	DOVES_relaxed.owl
MONDO:0000630	biolink:NamedThing	immune system organ benign neoplasm	A benign neoplasm that involves the immune organ.	DOVES_relaxed.owl
MONDO:0000634	biolink:NamedThing	thoracic benign neoplasm	A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma.	DOVES_relaxed.owl
MONDO:0000636	biolink:NamedThing	musculoskeletal system benign neoplasm	A benign neoplasm that involves the musculoskeletal system.	DOVES_relaxed.owl
MONDO:0000648	biolink:NamedThing	nervous system benign neoplasm	Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas).	DOVES_relaxed.owl
MONDO:0000650	biolink:NamedThing	peritoneal benign neoplasm	A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis.	DOVES_relaxed.owl
MONDO:0002373	biolink:NamedThing	benign mesothelioma	A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body.	DOVES_relaxed.owl
MONDO:0002382	biolink:NamedThing	benign mesenchymoma	A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.	DOVES_relaxed.owl
MONDO:0003342	biolink:NamedThing	benign perivascular tumor	A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.	DOVES_relaxed.owl
MONDO:0004180	biolink:NamedThing	benign urinary system neoplasm	A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma.	DOVES_relaxed.owl
MONDO:0006121	biolink:NamedThing	calcifying fibrous tumor	A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications.	DOVES_relaxed.owl
MONDO:0021048	biolink:NamedThing	benign mastocytoma	A localized mast cell neoplasm without metastatic potential.	DOVES_relaxed.owl
MONDO:0021445	biolink:NamedThing	benign neoplasm of oral cavity	A benign neoplasm that involves the oral cavity.	DOVES_relaxed.owl
MONDO:0021455	biolink:NamedThing	benign neoplasm of neck	A benign neoplasm that involves the neck.	DOVES_relaxed.owl
MONDO:0021460	biolink:NamedThing	benign neoplasm of salivary gland	A benign neoplasm that involves the saliva-secreting gland.	DOVES_relaxed.owl
MONDO:0021520	biolink:NamedThing	benign neoplasm of floor of mouth	A benign neoplasm that involves the mouth floor.	DOVES_relaxed.owl
MONDO:0021523	biolink:NamedThing	benign neoplasm of pharynx	A benign neoplasm that involves the pharynx.	DOVES_relaxed.owl
MONDO:0021524	biolink:NamedThing	benign neoplasm of buccal mucosa	A benign neoplasm that involves the buccal mucosa.	DOVES_relaxed.owl
MONDO:0024470	biolink:NamedThing	benign chondrogenic neoplasm	A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma.	DOVES_relaxed.owl
MONDO:0036976	biolink:NamedThing	benign epithelial neoplasm	A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites.	DOVES_relaxed.owl
MONDO:0037002	biolink:NamedThing	benign phyllodes tumor	A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features.	DOVES_relaxed.owl
MONDO:0006055	biolink:NamedThing	sex cord-stromal tumor	A neoplasm involving a sex cord.	DOVES_relaxed.owl
MONDO:0006773	biolink:NamedThing	gonadal tissue neoplasm	Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells.	DOVES_relaxed.owl
MONDO:0021148	biolink:NamedThing	female reproductive system neoplasm	A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma.	DOVES_relaxed.owl
MONDO:0021259	biolink:NamedThing	prostate neoplasm	A neoplasm (disease) that involves the prostate gland.	DOVES_relaxed.owl
MONDO:0024235	biolink:NamedThing	Brenner tumor	A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature.	DOVES_relaxed.owl
MONDO:0024582	biolink:NamedThing	male reproductive system neoplasm	A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma.	DOVES_relaxed.owl
MONDO:0000384	biolink:NamedThing	bladder benign neoplasm	A benign abnormal growth of the cells that comprise the bladder.	DOVES_relaxed.owl
MONDO:0001398	biolink:NamedThing	ureter benign neoplasm	Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom.	DOVES_relaxed.owl
MONDO:0002451	biolink:NamedThing	benign prostate phyllodes tumor	A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells.	DOVES_relaxed.owl
MONDO:0002513	biolink:NamedThing	kidney benign neoplasm	A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis.	DOVES_relaxed.owl
MONDO:0004041	biolink:NamedThing	urothelial papilloma	A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium.	DOVES_relaxed.owl
MONDO:0004177	biolink:NamedThing	benign urethral neoplasm	Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics.	DOVES_relaxed.owl
MONDO:0004987	biolink:NamedThing	urinary bladder neoplasm	A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003	DOVES_relaxed.owl
MONDO:0001187	biolink:NamedThing	urinary bladder cancer	A primary or metastatic malignant neoplasm involving the bladder.	DOVES_relaxed.owl
MONDO:0003439	biolink:NamedThing	urinary bladder villous adenoma	An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma.	DOVES_relaxed.owl
MONDO:0003442	biolink:NamedThing	bladder papillary urothelial neoplasm	A papillary epithelial neoplasm that involves the urinary bladder urothelium.	DOVES_relaxed.owl
MONDO:0006111	biolink:NamedThing	bladder flat intraepithelial lesion	A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ.	DOVES_relaxed.owl
MONDO:0006112	biolink:NamedThing	bladder inflammatory myofibroblastic tumor	A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.	DOVES_relaxed.owl
MONDO:0004335	biolink:NamedThing	digestive system disorder	A disease or disorder that involves the digestive system.	DOVES_relaxed.owl
MONDO:0002515	biolink:NamedThing	hepatobiliary disorder	A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma.	DOVES_relaxed.owl
MONDO:0003749	biolink:NamedThing	esophageal disorder	A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas.	DOVES_relaxed.owl
MONDO:0004247	biolink:NamedThing	peptic ulcer disease	A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding.	DOVES_relaxed.owl
MONDO:0004298	biolink:NamedThing	stomach disorder	A disease involving the stomach.	DOVES_relaxed.owl
MONDO:0004522	biolink:NamedThing	peritonitis	Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment.	DOVES_relaxed.owl
MONDO:0005020	biolink:NamedThing	intestinal disorder	A non-neoplastic or neoplastic disorder that affects the small or large intestine.	DOVES_relaxed.owl
MONDO:0008283	biolink:NamedThing	Cronkhite-Canada syndrome	Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.	DOVES_relaxed.owl
MONDO:0009119	biolink:NamedThing	diverticulosis, small-intestinal		DOVES_relaxed.owl
MONDO:0009173	biolink:NamedThing	congenital enteropathy due to enteropeptidase deficiency	A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.	DOVES_relaxed.owl
MONDO:0015111	biolink:NamedThing	gastroesophageal disease		DOVES_relaxed.owl
MONDO:0024292	biolink:NamedThing	gastrointestinal polyp	A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps.	DOVES_relaxed.owl
MONDO:0024503	biolink:NamedThing	digestive system neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas).	DOVES_relaxed.owl
MONDO:0021223	biolink:NamedThing	digestive system neoplasm	A neoplasm (disease) that involves the digestive system.	DOVES_relaxed.owl
MONDO:0002514	biolink:NamedThing	hepatobiliary neoplasm	A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma.	DOVES_relaxed.owl
MONDO:0006180	biolink:NamedThing	digestive system adenoma	A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation.	DOVES_relaxed.owl
MONDO:0006231	biolink:NamedThing	gastrointestinal hamartoma	A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps.	DOVES_relaxed.owl
MONDO:0017167	biolink:NamedThing	malignant epithelial tumor of salivary glands		DOVES_relaxed.owl
MONDO:0017168	biolink:NamedThing	benign epithelial tumor of salivary glands		DOVES_relaxed.owl
MONDO:0021040	biolink:NamedThing	pancreatic neoplasm	A benign or malignant neoplasm involving the pancreas.	DOVES_relaxed.owl
MONDO:0021085	biolink:NamedThing	gastric neoplasm	A benign or malignant neoplasm involving the stomach.	DOVES_relaxed.owl
MONDO:0021118	biolink:NamedThing	intestinal neoplasm	A benign or malignant neoplasm involving the small or large intestine.	DOVES_relaxed.owl
MONDO:0021192	biolink:NamedThing	odontogenic neoplasm	A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain.	DOVES_relaxed.owl
MONDO:0021240	biolink:NamedThing	tongue neoplasm	A neoplasm (disease) that involves the tongue.	DOVES_relaxed.owl
MONDO:0021241	biolink:NamedThing	buccal mucosa neoplasm	A neoplasm (disease) that involves the buccal mucosa.	DOVES_relaxed.owl
MONDO:0021245	biolink:NamedThing	oral cavity neoplasm	A neoplasm (disease) that involves the oral cavity.	DOVES_relaxed.owl
MONDO:0021246	biolink:NamedThing	pharynx neoplasm	A neoplasm (disease) that involves the pharynx.	DOVES_relaxed.owl
MONDO:0021249	biolink:NamedThing	lip neoplasm	A neoplasm (disease) that involves the lip.	DOVES_relaxed.owl
MONDO:0021355	biolink:NamedThing	neoplasm of esophagus	A neoplasm (disease) that involves the esophagus.	DOVES_relaxed.owl
MONDO:0021357	biolink:NamedThing	tumor of salivary gland	A neoplasm (disease) that involves the saliva-secreting gland.	DOVES_relaxed.owl
MONDO:0021383	biolink:NamedThing	neoplasm of floor of mouth	A neoplasm (disease) that involves the mouth floor.	DOVES_relaxed.owl
MONDO:0036696	biolink:NamedThing	spleen neoplasm	A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma.	DOVES_relaxed.owl
MONDO:0043251	biolink:NamedThing	odontoma	A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported.	DOVES_relaxed.owl
MONDO:0000386	biolink:NamedThing	digestive system neuroendocrine tumor, grade 1/2	A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas.	DOVES_relaxed.owl
MONDO:0002883	biolink:NamedThing	intestinal neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	DOVES_relaxed.owl
MONDO:0003111	biolink:NamedThing	gastric neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	DOVES_relaxed.owl
MONDO:0005815	biolink:NamedThing	pancreatic neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade).	DOVES_relaxed.owl
MONDO:0006405	biolink:NamedThing	salivary gland small cell carcinoma	An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures.	DOVES_relaxed.owl
MONDO:0015072	biolink:NamedThing	liver neuroendocrine carcinoma	An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver.	DOVES_relaxed.owl
MONDO:0024502	biolink:NamedThing	gallbladder neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	DOVES_relaxed.owl
MONDO:0028618	biolink:NamedThing	gastroenteric neuroendocrine neoplasm		DOVES_relaxed.owl
MONDO:0045070	biolink:NamedThing	digestive system melanoma	A melanoma that arises from any part of the digestive system.	DOVES_relaxed.owl
MONDO:0001245	biolink:NamedThing	microcytic anemia	Anemia in which the red blood cell volume is decreased.	DOVES_relaxed.owl
MONDO:0006760	biolink:NamedThing	fetal erythroblastosis	A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death.	DOVES_relaxed.owl
MONDO:0008788	biolink:NamedThing	IRIDA syndrome	IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.	DOVES_relaxed.owl
MONDO:0001357	biolink:NamedThing	hypochromic anemia	Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency.	DOVES_relaxed.owl
MONDO:0000446	biolink:NamedThing	midface dysplasia		DOVES_relaxed.owl
MONDO:0005610	biolink:NamedThing	Kashin-Beck disease	Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology.	DOVES_relaxed.owl
MONDO:0007037	biolink:NamedThing	achondroplasia	Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.	DOVES_relaxed.owl
MONDO:0007208	biolink:NamedThing	Boomerang dysplasia	Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.	DOVES_relaxed.owl
MONDO:0007251	biolink:NamedThing	campomelic dysplasia	Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).	DOVES_relaxed.owl
MONDO:0007340	biolink:NamedThing	cleidocranial dysplasia	Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems.	DOVES_relaxed.owl
MONDO:0007481	biolink:NamedThing	Leri-Weill dyschondrosteosis	Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.	DOVES_relaxed.owl
MONDO:0007793	biolink:NamedThing	hypochondroplasia	Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.	DOVES_relaxed.owl
MONDO:0008322	biolink:NamedThing	pseudoachondroplasia	Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.	DOVES_relaxed.owl
MONDO:0008700	biolink:NamedThing	acheiropody	Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.	DOVES_relaxed.owl
MONDO:0009107	biolink:NamedThing	diastrophic dysplasia	Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).	DOVES_relaxed.owl
MONDO:0009940	biolink:NamedThing	pycnodysostosis	Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery.	DOVES_relaxed.owl
MONDO:0010013	biolink:NamedThing	schneckenbecken dysplasia	Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.	DOVES_relaxed.owl
MONDO:0010881	biolink:NamedThing	mesomelia-synostoses syndrome	A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.	DOVES_relaxed.owl
MONDO:0015262	biolink:NamedThing	brachyolmia	Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.	DOVES_relaxed.owl
MONDO:0016068	biolink:NamedThing	fibrochondrogenesis	Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.	DOVES_relaxed.owl
MONDO:0016648	biolink:NamedThing	multiple epiphyseal dysplasia	Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6.	DOVES_relaxed.owl
MONDO:0016761	biolink:NamedThing	spondyloepiphyseal dysplasia	An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis.	DOVES_relaxed.owl
MONDO:0017042	biolink:NamedThing	thanatophoric dysplasia	Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.	DOVES_relaxed.owl
MONDO:0017194	biolink:NamedThing	Blount disease	Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.	DOVES_relaxed.owl
MONDO:0019648	biolink:NamedThing	achondrogenesis	Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.	DOVES_relaxed.owl
MONDO:0019696	biolink:NamedThing	acromesomelic dysplasia	A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type	DOVES_relaxed.owl
MONDO:0019702	biolink:NamedThing	neonatal osteosclerotic dysplasia		DOVES_relaxed.owl
MONDO:0021834	biolink:NamedThing	Akaba Hayasaka syndrome	A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia.	DOVES_relaxed.owl
MONDO:0023106	biolink:NamedThing	Fairbank disease		DOVES_relaxed.owl
MONDO:0023599	biolink:NamedThing	mesomelic dysplasia	A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae).	DOVES_relaxed.owl
MONDO:0100510	biolink:NamedThing	spondyloepimetaphyseal dysplasia	An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.	DOVES_relaxed.owl
MONDO:0000390	biolink:NamedThing	vitelliform macular dystrophy	A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision.	DOVES_relaxed.owl
MONDO:0003004	biolink:NamedThing	macular degeneration	Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.	DOVES_relaxed.owl
MONDO:0002175	biolink:NamedThing	degeneration of macula and posterior pole		DOVES_relaxed.owl
MONDO:0003005	biolink:NamedThing	macular retinal edema	Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision.	DOVES_relaxed.owl
MONDO:0012733	biolink:NamedThing	autosomal recessive bestrophinopathy	Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).	DOVES_relaxed.owl
MONDO:0013316	biolink:NamedThing	occult macular dystrophy	Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.	DOVES_relaxed.owl
MONDO:0014501	biolink:NamedThing	macular degeneration, early-onset		DOVES_relaxed.owl
MONDO:0020381	biolink:NamedThing	patterned macular dystrophy	A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.	DOVES_relaxed.owl
MONDO:0020242	biolink:NamedThing	genetic macular dystrophy	Macular dystrophy that is related to a change in a gene.	DOVES_relaxed.owl
MONDO:0000455	biolink:NamedThing	cone dystrophy	An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.	DOVES_relaxed.owl
MONDO:0007353	biolink:NamedThing	coloboma of macula-brachydactyly type B syndrome	Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.	DOVES_relaxed.owl
MONDO:0007934	biolink:NamedThing	benign concentric annular macular dystrophy	Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration.	DOVES_relaxed.owl
MONDO:0007936	biolink:NamedThing	macular dystrophy, fenestrated sheen type		DOVES_relaxed.owl
MONDO:0009001	biolink:NamedThing	macular coloboma-cleft palate-hallux valgus syndrome	Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0009020	biolink:NamedThing	macular corneal dystrophy	Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.	DOVES_relaxed.owl
MONDO:0009548	biolink:NamedThing	renal hypomagnesemia 5 with ocular involvement	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.	DOVES_relaxed.owl
MONDO:0010646	biolink:NamedThing	macular dystrophy, X-linked		DOVES_relaxed.owl
MONDO:0016420	biolink:NamedThing	familial flecked retinopathy		DOVES_relaxed.owl
MONDO:0018973	biolink:NamedThing	patterned dystrophy of the retinal pigment epithelium		DOVES_relaxed.owl
MONDO:0031166	biolink:NamedThing	macular dystrophy, retinal		DOVES_relaxed.owl
MONDO:0000393	biolink:NamedThing	partial fetal alcohol syndrome	A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.	DOVES_relaxed.owl
MONDO:0000408	biolink:NamedThing	fetal alcohol spectrum disorder	A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues.	DOVES_relaxed.owl
MONDO:0000395	biolink:NamedThing	alcohol-related birth defect	A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy.	DOVES_relaxed.owl
MONDO:0016011	biolink:NamedThing	fetal alcohol syndrome	Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).	DOVES_relaxed.owl
MONDO:0000396	biolink:NamedThing	spastic cerebral palsy	A form of cerebral palsy wherein spasticity is the exclusive impairment present.	DOVES_relaxed.owl
MONDO:0006497	biolink:NamedThing	cerebral palsy	A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.	DOVES_relaxed.owl
MONDO:0000397	biolink:NamedThing	ataxic cerebral palsy	A form of cerebral palsy caused by damage to cerebellar structures.	DOVES_relaxed.owl
MONDO:0000400	biolink:NamedThing	mixed cerebral palsy	A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy.	DOVES_relaxed.owl
MONDO:0020695	biolink:NamedThing	hypotonic cerebral palsy	A type of cerebral palsy characterized by decreased muscle tone.	DOVES_relaxed.owl
MONDO:0022697	biolink:NamedThing	athetoid cerebral palsy	A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating.	DOVES_relaxed.owl
MONDO:0000402	biolink:NamedThing	small cell carcinoma	A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early.	DOVES_relaxed.owl
MONDO:0002120	biolink:NamedThing	neuroendocrine carcinoma	A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma.	DOVES_relaxed.owl
MONDO:0002167	biolink:NamedThing	rectum malignant melanoma	An aggressive malignant melanocytic neoplasm that arises from the rectum.	DOVES_relaxed.owl
MONDO:0003504	biolink:NamedThing	anal canal neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	DOVES_relaxed.owl
MONDO:0005057	biolink:NamedThing	large cell neuroendocrine carcinoma	A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas.	DOVES_relaxed.owl
MONDO:0005893	biolink:NamedThing	pancreatic endocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.	DOVES_relaxed.owl
MONDO:0006167	biolink:NamedThing	combined lung carcinoma	A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells.	DOVES_relaxed.owl
MONDO:0006288	biolink:NamedThing	malignant adrenal gland pheochromocytoma	A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity.	DOVES_relaxed.owl
MONDO:0015277	biolink:NamedThing	medullary thyroid gland carcinoma	A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy.	DOVES_relaxed.owl
MONDO:0018017	biolink:NamedThing	goblet cell carcinoma	An aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis.	DOVES_relaxed.owl
MONDO:0019210	biolink:NamedThing	cutaneous neuroendocrine carcinoma	Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)).	DOVES_relaxed.owl
MONDO:0020516	biolink:NamedThing	thymic neuroendocrine carcinoma	Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation.	DOVES_relaxed.owl
MONDO:0056816	biolink:NamedThing	vulvar neuroendocrine carcinoma	A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas.	DOVES_relaxed.owl
MONDO:0000405	biolink:NamedThing	anal canal cancer	A malignant neoplasm involving the anal canal	DOVES_relaxed.owl
MONDO:0005814	biolink:NamedThing	intestinal cancer	A malignant neoplasm involving the intestine	DOVES_relaxed.owl
MONDO:0000956	biolink:NamedThing	small intestine cancer	A primary or metastatic malignant neoplasm involving the small intestine.	DOVES_relaxed.owl
MONDO:0005037	biolink:NamedThing	gastric intestinal type adenocarcinoma	An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated.	DOVES_relaxed.owl
MONDO:0005575	biolink:NamedThing	colorectal cancer	A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma.	DOVES_relaxed.owl
MONDO:0024634	biolink:NamedThing	large intestine disorder	A disease that involves the large intestine.	DOVES_relaxed.owl
MONDO:0001593	biolink:NamedThing	rectal disorder	A disease that involves the rectum.	DOVES_relaxed.owl
MONDO:0003409	biolink:NamedThing	colonic disorder	Pathological processes in the colon region of the large intestine (intestine, large).	DOVES_relaxed.owl
MONDO:0005335	biolink:NamedThing	colorectal neoplasm	A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	DOVES_relaxed.owl
MONDO:0005532	biolink:NamedThing	Crohn's colitis	Crohn's disease affecting the colon.	DOVES_relaxed.owl
MONDO:0018516	biolink:NamedThing	epithelial tumor of anal canal	A epithelial neoplasm that involves the anal canal.	DOVES_relaxed.owl
MONDO:0021392	biolink:NamedThing	polyp of large intestine	A polyp that involves the large intestine.	DOVES_relaxed.owl
MONDO:0021444	biolink:NamedThing	benign neoplasm of large intestine	A benign neoplasm that involves the large intestine.	DOVES_relaxed.owl
MONDO:0056798	biolink:NamedThing	disorder of appendix	A disease or disorder that involves the vermiform appendix.	DOVES_relaxed.owl
MONDO:0000407	biolink:NamedThing	malignant pleural solitary fibrous tumor	A malignant form of pleural solitary fibrous tumor.	DOVES_relaxed.owl
MONDO:0006294	biolink:NamedThing	pleural cancer	A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site.	DOVES_relaxed.owl
MONDO:0001861	biolink:NamedThing	malignant parietal pleura tumor		DOVES_relaxed.owl
MONDO:0001862	biolink:NamedThing	malignant visceral pleura tumor		DOVES_relaxed.owl
MONDO:0005112	biolink:NamedThing	malignant pleural mesothelioma	A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive.	DOVES_relaxed.owl
MONDO:0021041	biolink:NamedThing	pleural solitary fibrous tumor	A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen.	DOVES_relaxed.owl
MONDO:0000592	biolink:NamedThing	specific developmental disorder	A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.	DOVES_relaxed.owl
MONDO:0000495	biolink:NamedThing	oppositional defiant disorder	A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors.	DOVES_relaxed.owl
MONDO:0000815	biolink:NamedThing	fetal nicotine spectrum disorder	A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy.	DOVES_relaxed.owl
MONDO:0002182	biolink:NamedThing	communication disorder	A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing.	DOVES_relaxed.owl
MONDO:0002265	biolink:NamedThing	stereotypic movement disorder	Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)	DOVES_relaxed.owl
MONDO:0002420	biolink:NamedThing	tic disorder	Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)	DOVES_relaxed.owl
MONDO:0004681	biolink:NamedThing	learning disability	A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect.	DOVES_relaxed.owl
MONDO:0004922	biolink:NamedThing	developmental coordination disorder	A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition.	DOVES_relaxed.owl
MONDO:0005352	biolink:NamedThing	conduct disorder	A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period.	DOVES_relaxed.owl
MONDO:0007743	biolink:NamedThing	attention deficit-hyperactivity disorder	A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type.	DOVES_relaxed.owl
MONDO:0002326	biolink:NamedThing	alcohol-induced mental disorder		DOVES_relaxed.owl
MONDO:0002330	biolink:NamedThing	alcoholic psychosis	A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol.	DOVES_relaxed.owl
MONDO:0006642	biolink:NamedThing	alcohol withdrawal delirium	An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)	DOVES_relaxed.owl
MONDO:0021699	biolink:NamedThing	alcohol-induced disorders	Disorders stemming from the misuse and abuse of alcohol.	DOVES_relaxed.owl
MONDO:0003232	biolink:NamedThing	alcoholic pancreatitis	Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics.	DOVES_relaxed.owl
MONDO:0006643	biolink:NamedThing	alcoholic cardiomyopathy	A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years.	DOVES_relaxed.owl
MONDO:0021166	biolink:NamedThing	inflammatory disease	A disease involving a pathogenic inflammatory response in the anatomical structure.	DOVES_relaxed.owl
MONDO:0000497	biolink:NamedThing	pyometritis	Inflammation of uterine musculature associated with pus in the uterine cavity.	DOVES_relaxed.owl
MONDO:0000739	biolink:NamedThing	uvulitis	Inflammation of the uvula.	DOVES_relaxed.owl
MONDO:0000748	biolink:NamedThing	mastoiditis	Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process.	DOVES_relaxed.owl
MONDO:0000922	biolink:NamedThing	pelvic inflammatory disease	Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection.	DOVES_relaxed.owl
MONDO:0001109	biolink:NamedThing	petrositis	Inflammation of petrous bone.	DOVES_relaxed.owl
MONDO:0001166	biolink:NamedThing	nephritis	Inflammation of renal tissue.	DOVES_relaxed.owl
MONDO:0001409	biolink:NamedThing	esophagitis	An acute or chronic inflammatory disease affecting the esophageal wall.	DOVES_relaxed.owl
MONDO:0001873	biolink:NamedThing	geniculate ganglionitis	Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation.	DOVES_relaxed.owl
MONDO:0001875	biolink:NamedThing	epicondylitis	Inflammation of the lateral epicondyle.	DOVES_relaxed.owl
MONDO:0002008	biolink:NamedThing	labyrinthitis	Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication.	DOVES_relaxed.owl
MONDO:0002102	biolink:NamedThing	cheilitis	An inflammatory process affecting the lip.	DOVES_relaxed.owl
MONDO:0002122	biolink:NamedThing	neuritis	A neuropathy arising from inflammation of one or more nerves.	DOVES_relaxed.owl
MONDO:0002234	biolink:NamedThing	vaginitis	A non-infectious or infectious inflammatory process affecting the vagina.	DOVES_relaxed.owl
MONDO:0002258	biolink:NamedThing	pharyngitis	Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma.	DOVES_relaxed.owl
MONDO:0002260	biolink:NamedThing	hidradenitis	An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland.	DOVES_relaxed.owl
MONDO:0002335	biolink:NamedThing	chronic inflammatory demyelinating polyneuritis	An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms.	DOVES_relaxed.owl
MONDO:0002406	biolink:NamedThing	dermatitis	An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.	DOVES_relaxed.owl
MONDO:0002471	biolink:NamedThing	bursitis	Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin.	DOVES_relaxed.owl
MONDO:0003085	biolink:NamedThing	keratitis	A corneal disease that is characterized by inflammation of the cornea.	DOVES_relaxed.owl
MONDO:0003632	biolink:NamedThing	endocervicitis	Inflammation of the endocervix.	DOVES_relaxed.owl
MONDO:0003799	biolink:NamedThing	conjunctivitis	Inflammation of the conjunctiva of the eye.	DOVES_relaxed.owl
MONDO:0003937	biolink:NamedThing	spondylitis	The inflammation of a vertebra.	DOVES_relaxed.owl
MONDO:0004126	biolink:NamedThing	thyroiditis	Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis.	DOVES_relaxed.owl
MONDO:0004235	biolink:NamedThing	diverticulitis	An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis.	DOVES_relaxed.owl
MONDO:0004466	biolink:NamedThing	neuronitis		DOVES_relaxed.owl
MONDO:0004492	biolink:NamedThing	mediastinitis	An inflammatory process affecting the mediastinum.	DOVES_relaxed.owl
MONDO:0004779	biolink:NamedThing	epididymitis	Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord.	DOVES_relaxed.owl
MONDO:0004785	biolink:NamedThing	blepharitis	Inflammation of the eyelids near the eyelashes.	DOVES_relaxed.owl
MONDO:0004789	biolink:NamedThing	cholangitis	An acute or chronic inflammatory process affecting the biliary tract.	DOVES_relaxed.owl
MONDO:0004804	biolink:NamedThing	dacryoadenitis	Inflammation and enlargement of the lacrimal gland.	DOVES_relaxed.owl
MONDO:0004830	biolink:NamedThing	fasciitis	Inflammation process in fascia.	DOVES_relaxed.owl
MONDO:0004923	biolink:NamedThing	chronic inflammation of lacrimal passage		DOVES_relaxed.owl
MONDO:0004926	biolink:NamedThing	dacryocystitis	Inflammation of the lacrimal sac.	DOVES_relaxed.owl
MONDO:0004934	biolink:NamedThing	periostitis	Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0004966	biolink:NamedThing	gastritis	Inflammation of the stomach.	DOVES_relaxed.owl
MONDO:0004982	biolink:NamedThing	pancreatitis	Inflammation of the pancreas.	DOVES_relaxed.owl
MONDO:0005076	biolink:NamedThing	periodontitis	An acute or chronic inflammatory process that affects the tissues that surround and support the teeth.	DOVES_relaxed.owl
MONDO:0005156	biolink:NamedThing	encephalomyelitis	Inflammation of the brain and the spinal cord.	DOVES_relaxed.owl
MONDO:0005250	biolink:NamedThing	placental villitis	Inflammatory process that involves the chorionic villi (villitis) of the placenta.	DOVES_relaxed.owl
MONDO:0005280	biolink:NamedThing	prostatitis	An infectious or non-infectious inflammatory process affecting the prostate gland.	DOVES_relaxed.owl
MONDO:0005297	biolink:NamedThing	urethritis	Inflammation of the urethra.	DOVES_relaxed.owl
MONDO:0005441	biolink:NamedThing	otitis media	Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever.	DOVES_relaxed.owl
MONDO:0005538	biolink:NamedThing	proctitis	An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease.	DOVES_relaxed.owl
MONDO:0005578	biolink:NamedThing	arthritic joint disease	An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain.	DOVES_relaxed.owl
MONDO:0005887	biolink:NamedThing	oral tuberculosis	Tuberculosis of the mouth, tongue, and salivary glands.	DOVES_relaxed.owl
MONDO:0005900	biolink:NamedThing	parotitis	Inflammation of the parotid glands.	DOVES_relaxed.owl
MONDO:0005904	biolink:NamedThing	pericarditis	An inflammatory process affecting the pericardium.	DOVES_relaxed.owl
MONDO:0005961	biolink:NamedThing	sinusitis	An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity.	DOVES_relaxed.owl
MONDO:0006032	biolink:NamedThing	cystitis	Inflammation of the urinary bladder.	DOVES_relaxed.owl
MONDO:0006672	biolink:NamedThing	balanitis	An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge.	DOVES_relaxed.owl
MONDO:0006771	biolink:NamedThing	glossitis	Inflammation of the tongue.	DOVES_relaxed.owl
MONDO:0006849	biolink:NamedThing	mastitis	Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men.	DOVES_relaxed.owl
MONDO:0006877	biolink:NamedThing	oophoritis	Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix.	DOVES_relaxed.owl
MONDO:0006882	biolink:NamedThing	orchitis	Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation.	DOVES_relaxed.owl
MONDO:0006900	biolink:NamedThing	perinephritis	Inflammation of the connective and adipose tissues surrounding the kidney.	DOVES_relaxed.owl
MONDO:0006955	biolink:NamedThing	rheumatic heart disease	An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction.	DOVES_relaxed.owl
MONDO:0007018	biolink:NamedThing	vulvitis	Inflammation of the vulva. It is characterized by pruritus and painful urination.	DOVES_relaxed.owl
MONDO:0016047	biolink:NamedThing	endophthalmitis	An infectious process affecting the internal structures of the eye.	DOVES_relaxed.owl
MONDO:0018305	biolink:NamedThing	chronic granulomatous disease	Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.	DOVES_relaxed.owl
MONDO:0018882	biolink:NamedThing	vasculitis	Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease.	DOVES_relaxed.owl
MONDO:0019621	biolink:NamedThing	chronic pneumonitis of infancy	Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD).	DOVES_relaxed.owl
MONDO:0020283	biolink:NamedThing	uveitis	An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision.	DOVES_relaxed.owl
MONDO:0020579	biolink:NamedThing	mucositis	Inflammation of the mucous membranes.	DOVES_relaxed.owl
MONDO:0020710	biolink:NamedThing	amnionitis	Inflammation of the amnion.	DOVES_relaxed.owl
MONDO:0020830	biolink:NamedThing	diaphragmitis		DOVES_relaxed.owl
MONDO:0021157	biolink:NamedThing	gonococcal cervicitis		DOVES_relaxed.owl
MONDO:0021164	biolink:NamedThing	posthitis	An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis.	DOVES_relaxed.owl
MONDO:0021562	biolink:NamedThing	omphalitis	Inflammation of the umbilical cord stump in newborns.	DOVES_relaxed.owl
MONDO:0021666	biolink:NamedThing	ear infection	A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting.	DOVES_relaxed.owl
MONDO:0021765	biolink:NamedThing	radiculitis	An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path.	DOVES_relaxed.owl
MONDO:0021925	biolink:NamedThing	tracheobronchitis	Inflammation of the tracheobronchial tree.	DOVES_relaxed.owl
MONDO:0021960	biolink:NamedThing	ureteritis	An acute or chronic inflammatory process affecting the ureter.	DOVES_relaxed.owl
MONDO:0024419	biolink:NamedThing	enthesitis	Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.	DOVES_relaxed.owl
MONDO:0024636	biolink:NamedThing	inflammation of heart layer	An inflammatory disease involving a pathogenic inflammatory response in the heart layer.	DOVES_relaxed.owl
MONDO:0043786	biolink:NamedThing	serositis	Inflammation of a serous membrane.	DOVES_relaxed.owl
MONDO:0100185	biolink:NamedThing	immune reconstitution inflammatory syndrome	An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens.	DOVES_relaxed.owl
MONDO:0045013	biolink:NamedThing	disorder of extraembryonic membrane	A disease or disorder that involves the extraembryonic membrane.	DOVES_relaxed.owl
MONDO:0000410	biolink:NamedThing	funisitis	An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid.	DOVES_relaxed.owl
MONDO:0024575	biolink:NamedThing	pregnancy disorder	A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor.	DOVES_relaxed.owl
MONDO:0001065	biolink:NamedThing	supine hypotensive syndrome	A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.	DOVES_relaxed.owl
MONDO:0001976	biolink:NamedThing	chorea gravidarum	A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)	DOVES_relaxed.owl
MONDO:0004387	biolink:NamedThing	luteoma of pregnancy	A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required.	DOVES_relaxed.owl
MONDO:0004585	biolink:NamedThing	polyhydramnios	An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm.	DOVES_relaxed.owl
MONDO:0004591	biolink:NamedThing	impetigo herpetiformis	An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.	DOVES_relaxed.owl
MONDO:0005406	biolink:NamedThing	gestational diabetes	Carbohydrate intolerance first diagnosed during pregnancy.	DOVES_relaxed.owl
MONDO:0005917	biolink:NamedThing	placenta disorder	A disease involving the placenta.	DOVES_relaxed.owl
MONDO:0006558	biolink:NamedThing	pemphigoid gestationis	A rare pregnancy-associated autoimmune skin disease that is characterised by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever.	DOVES_relaxed.owl
MONDO:0006737	biolink:NamedThing	dystocia	Slow or difficult obstetric labor or childbirth.	DOVES_relaxed.owl
MONDO:0006791	biolink:NamedThing	hyperemesis gravidarum	Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances.	DOVES_relaxed.owl
MONDO:0008353	biolink:NamedThing	pruritic urticarial papules and plaques of pregnancy		DOVES_relaxed.owl
MONDO:0013301	biolink:NamedThing	aromatase deficiency	Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.	DOVES_relaxed.owl
MONDO:0017330	biolink:NamedThing	malignancy diagnosed during pregnancy		DOVES_relaxed.owl
MONDO:0018623	biolink:NamedThing	postpartum psychosis	Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly.	DOVES_relaxed.owl
MONDO:0018920	biolink:NamedThing	peripartum cardiomyopathy	Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.	DOVES_relaxed.owl
MONDO:0018944	biolink:NamedThing	gestational trophoblastic neoplasm	A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor.	DOVES_relaxed.owl
MONDO:0024664	biolink:NamedThing	hypertension, pregnancy-induced	A hypertensive disorder that develops during pregnancy.	DOVES_relaxed.owl
MONDO:0035882	biolink:NamedThing	chronic intervillositis of unknown etiology		DOVES_relaxed.owl
MONDO:0041526	biolink:NamedThing	pregnancy disorder with abortive outcome		DOVES_relaxed.owl
MONDO:0043226	biolink:NamedThing	postpartum amenorrhea-galactorrhea syndrome		DOVES_relaxed.owl
MONDO:0850013	biolink:NamedThing	twin anemia-polycythemia sequence		DOVES_relaxed.owl
MONDO:0850014	biolink:NamedThing	twin-reversed arterial perfusion sequence		DOVES_relaxed.owl
MONDO:0850015	biolink:NamedThing	selective intrauterine growth restriction		DOVES_relaxed.owl
MONDO:0850046	biolink:NamedThing	amniotic fluid embolism		DOVES_relaxed.owl
MONDO:0000411	biolink:NamedThing	electroclinical syndrome	An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.	DOVES_relaxed.owl
MONDO:0002125	biolink:NamedThing	status epilepticus	A life-threatening situation in which the brain is in a continuous state of seizure.	DOVES_relaxed.owl
MONDO:0002338	biolink:NamedThing	extratemporal epilepsy	An epilepsy syndrome that is located in an area of the brain other than the temporal lobe.	DOVES_relaxed.owl
MONDO:0005384	biolink:NamedThing	focal epilepsy	A seizure caused by a localized disorder.	DOVES_relaxed.owl
MONDO:0006748	biolink:NamedThing	epilepsia partialis continua	A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)	DOVES_relaxed.owl
MONDO:0006823	biolink:NamedThing	Klinefelter syndrome	A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.	DOVES_relaxed.owl
MONDO:0007113	biolink:NamedThing	Angelman syndrome	A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.	DOVES_relaxed.owl
MONDO:0011146	biolink:NamedThing	tetrasomy 12p	Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.	DOVES_relaxed.owl
MONDO:0011147	biolink:NamedThing	chromosome 18q deletion syndrome	A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.	DOVES_relaxed.owl
MONDO:0012081	biolink:NamedThing	15q11q13 microduplication syndrome	The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.	DOVES_relaxed.owl
MONDO:0014708	biolink:NamedThing	ring chromosome 14	Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.	DOVES_relaxed.owl
MONDO:0015436	biolink:NamedThing	ring chromosome 20	Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present.	DOVES_relaxed.owl
MONDO:0015650	biolink:NamedThing	epilepsy syndrome		DOVES_relaxed.owl
MONDO:0015723	biolink:NamedThing	trisomy 12p	Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities.	DOVES_relaxed.owl
MONDO:0018027	biolink:NamedThing	duplication/inversion 15q11	Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0043264	biolink:NamedThing	post-traumatic epilepsy	Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)	DOVES_relaxed.owl
MONDO:0100028	biolink:NamedThing	immune epilepsy	Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.	DOVES_relaxed.owl
MONDO:0100035	biolink:NamedThing	structural epilepsy	Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy.	DOVES_relaxed.owl
MONDO:0100036	biolink:NamedThing	variable age onset epilepsy	An epilepsy syndrome that has an onset during variable ages and stages of life.	DOVES_relaxed.owl
MONDO:0100207	biolink:NamedThing	infantile-onset epilepsy	Epilepsy starting in the first 12 months of life, including self-limiting and refractory seizures, and epilepsies with and without developmental disorders.	DOVES_relaxed.owl
MONDO:0000412	biolink:NamedThing	neonatal period electroclinical syndrome	An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.	DOVES_relaxed.owl
MONDO:0000413	biolink:NamedThing	infancy electroclinical syndrome	An electroclinical syndrome with onset in infancy occurring between birth and one year of age.	DOVES_relaxed.owl
MONDO:0000414	biolink:NamedThing	childhood electroclinical syndrome	A electroclinical syndrome that occurs during childhood.	DOVES_relaxed.owl
MONDO:0000415	biolink:NamedThing	adolescence-adult electroclinical syndrome	An electroclinical syndrome with onset in adolescence and adulthood.	DOVES_relaxed.owl
MONDO:0000417	biolink:NamedThing	early onset absence epilepsy	A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.	DOVES_relaxed.owl
MONDO:0009509	biolink:NamedThing	Landau-Kleffner syndrome	Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS.	DOVES_relaxed.owl
MONDO:0016532	biolink:NamedThing	Lennox-Gastaut syndrome	Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.	DOVES_relaxed.owl
MONDO:0000421	biolink:NamedThing	inborn serine deficiency	An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.	DOVES_relaxed.owl
MONDO:0019239	biolink:NamedThing	inborn disorder of serine family metabolism	An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.	DOVES_relaxed.owl
MONDO:0010008	biolink:NamedThing	sarcosinemia	Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.	DOVES_relaxed.owl
MONDO:0000424	biolink:NamedThing	inborn vitamin B12 deficiency	Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement.	DOVES_relaxed.owl
MONDO:0019237	biolink:NamedThing	inborn disorder of pyridoxine metabolism	An inherited metabolic disease that is has its basis in the disruption of pyridoxine metabolic process.	DOVES_relaxed.owl
MONDO:0020698	biolink:NamedThing	inborn error of biotin metabolism		DOVES_relaxed.owl
MONDO:0000426	biolink:NamedThing	autosomal dominant disease	Autosomal dominant form of disease.	DOVES_relaxed.owl
MONDO:0000430	biolink:NamedThing	mature T-cell and NK-cell non-Hodgkin lymphoma	This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma.	DOVES_relaxed.owl
MONDO:0005169	biolink:NamedThing	neoplasm of mature T-cells or NK-cells	A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells.	DOVES_relaxed.owl
MONDO:0004234	biolink:NamedThing	chronic lymphoproliferative disorder of NK-cells	An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged.	DOVES_relaxed.owl
MONDO:0004964	biolink:NamedThing	peripheral T-cell lymphoma, not otherwise specified	Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant.	DOVES_relaxed.owl
MONDO:0015760	biolink:NamedThing	T-cell non-Hodgkin lymphoma	A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003	DOVES_relaxed.owl
MONDO:0015758	biolink:NamedThing	primary cutaneous T-cell lymphoma		DOVES_relaxed.owl
MONDO:0019088	biolink:NamedThing	post-transplant lymphoproliferative disease	Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0019467	biolink:NamedThing	CD4+/CD56+ hematodermic neoplasm	An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement.	DOVES_relaxed.owl
MONDO:0019473	biolink:NamedThing	enteropathy-associated T-cell lymphoma	An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease.	DOVES_relaxed.owl
MONDO:0019474	biolink:NamedThing	hepatosplenic T-cell lymphoma	An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis.	DOVES_relaxed.owl
MONDO:0034872	biolink:NamedThing	large granular lymphocyte leukemia		DOVES_relaxed.owl
MONDO:0044917	biolink:NamedThing	T-lymphoblastic lymphoma	The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0000432	biolink:NamedThing	lymphoplasmacytic lymphoma	A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein.	DOVES_relaxed.owl
MONDO:0004949	biolink:NamedThing	neoplasm of mature B-cells	A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001).	DOVES_relaxed.owl
MONDO:0015759	biolink:NamedThing	B-cell non-Hodgkin lymphoma	The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003	DOVES_relaxed.owl
MONDO:0000437	biolink:NamedThing	cerebellar ataxia	A neurological syndrome characterised by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.	DOVES_relaxed.owl
MONDO:0002913	biolink:NamedThing	cerebellar neoplasm	A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003	DOVES_relaxed.owl
MONDO:0005851	biolink:NamedThing	Miller Fisher syndrome	An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia.	DOVES_relaxed.owl
MONDO:0009072	biolink:NamedThing	Dandy-Walker syndrome	Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.	DOVES_relaxed.owl
MONDO:0022557	biolink:NamedThing	Behrens Baumann dust syndrome		DOVES_relaxed.owl
MONDO:0022687	biolink:NamedThing	cerebellar degeneration	Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.	DOVES_relaxed.owl
MONDO:0005395	biolink:NamedThing	movement disorder	Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.	DOVES_relaxed.owl
MONDO:0001074	biolink:NamedThing	chronic tic disorder	A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause.	DOVES_relaxed.owl
MONDO:0001595	biolink:NamedThing	choreatic disease	A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease.	DOVES_relaxed.owl
MONDO:0001815	biolink:NamedThing	extrapyramidal and movement disease		DOVES_relaxed.owl
MONDO:0002085	biolink:NamedThing	benign shuddering attacks		DOVES_relaxed.owl
MONDO:0002419	biolink:NamedThing	transient tic disorder	A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause.	DOVES_relaxed.owl
MONDO:0003441	biolink:NamedThing	dystonic disorder	A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.	DOVES_relaxed.owl
MONDO:0004901	biolink:NamedThing	lingual-facial-buccal dyskinesia	Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.	DOVES_relaxed.owl
MONDO:0006825	biolink:NamedThing	kuru	A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)	DOVES_relaxed.owl
MONDO:0007403	biolink:NamedThing	inherited Creutzfeldt-Jakob disease	Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.	DOVES_relaxed.owl
MONDO:0007739	biolink:NamedThing	Huntington disease	Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.	DOVES_relaxed.owl
MONDO:0007803	biolink:NamedThing	multiple system atrophy	Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.	DOVES_relaxed.owl
MONDO:0008045	biolink:NamedThing	spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.	DOVES_relaxed.owl
MONDO:0008206	biolink:NamedThing	benign paroxysmal tonic upgaze of childhood with ataxia	Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.	DOVES_relaxed.owl
MONDO:0008588	biolink:NamedThing	hereditary geniospasm	Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.	DOVES_relaxed.owl
MONDO:0008591	biolink:NamedThing	tremor-nystagmus-duodenal ulcer syndrome		DOVES_relaxed.owl
MONDO:0009697	biolink:NamedThing	Lafora disease	Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.	DOVES_relaxed.owl
MONDO:0009698	biolink:NamedThing	Unverricht-Lundborg syndrome	Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.	DOVES_relaxed.owl
MONDO:0011299	biolink:NamedThing	Huntington disease-like 1	Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene.	DOVES_relaxed.owl
MONDO:0011487	biolink:NamedThing	Huntington disease-like 3	Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.	DOVES_relaxed.owl
MONDO:0014521	biolink:NamedThing	progressive myoclonic epilepsy type 7	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene.	DOVES_relaxed.owl
MONDO:0014559	biolink:NamedThing	progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome		DOVES_relaxed.owl
MONDO:0015059	biolink:NamedThing	progressive non-fluent aphasia	Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.	DOVES_relaxed.owl
MONDO:0015247	biolink:NamedThing	opsoclonus-myoclonus syndrome	Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.	DOVES_relaxed.owl
MONDO:0016546	biolink:NamedThing	primary orthostatic tremor	Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing.	DOVES_relaxed.owl
MONDO:0016987	biolink:NamedThing	neuroacanthocytosis	Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.	DOVES_relaxed.owl
MONDO:0017160	biolink:NamedThing	behavioral variant of frontotemporal dementia	Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.	DOVES_relaxed.owl
MONDO:0017651	biolink:NamedThing	primary myoclonus		DOVES_relaxed.owl
MONDO:0017656	biolink:NamedThing	motor stereotypies		DOVES_relaxed.owl
MONDO:0017658	biolink:NamedThing	hyperekplexia	A neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia	DOVES_relaxed.owl
MONDO:0018243	biolink:NamedThing	intellectual disability-hyperkinetic movement-truncal ataxia syndrome		DOVES_relaxed.owl
MONDO:0018425	biolink:NamedThing	Huntington disease-like syndrome due to C9ORF72 expansions		DOVES_relaxed.owl
MONDO:0018692	biolink:NamedThing	variably protease-sensitive prionopathy		DOVES_relaxed.owl
MONDO:0019022	biolink:NamedThing	sensorineural hearing loss-early graying-essential tremor syndrome	Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor.	DOVES_relaxed.owl
MONDO:0019037	biolink:NamedThing	progressive supranuclear palsy	A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia.	DOVES_relaxed.owl
MONDO:0019104	biolink:NamedThing	Sandifer syndrome	Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.	DOVES_relaxed.owl
MONDO:0019114	biolink:NamedThing	psychogenic movement disorders	Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype.	DOVES_relaxed.owl
MONDO:0019487	biolink:NamedThing	epilepsy with myoclonic absences		DOVES_relaxed.owl
MONDO:0033864	biolink:NamedThing	infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome		DOVES_relaxed.owl
MONDO:0044332	biolink:NamedThing	childhood-onset benign chorea with striatal involvement		DOVES_relaxed.owl
MONDO:0700117	biolink:NamedThing	SLC6A3-related dopamine transporter deficiency syndrome	A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood.	DOVES_relaxed.owl
MONDO:0800028	biolink:NamedThing	dyskinesia with orofacial involvement, autosomal dominant	A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.	DOVES_relaxed.owl
MONDO:0100308	biolink:NamedThing	atactic disorder	A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement.	DOVES_relaxed.owl
MONDO:0016593	biolink:NamedThing	acquired ataxia	A type of ataxia that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0100311	biolink:NamedThing	sensory ataxia	Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction.	DOVES_relaxed.owl
MONDO:0000440	biolink:NamedThing	metabolic acidosis		DOVES_relaxed.owl
MONDO:0006022	biolink:NamedThing	acidosis disorder	An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic.	DOVES_relaxed.owl
MONDO:0001909	biolink:NamedThing	renal tubular acidosis	A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets.	DOVES_relaxed.owl
MONDO:0100160	biolink:NamedThing	alcoholic ketoacidosis	An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occuring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae.	DOVES_relaxed.owl
MONDO:0004691	biolink:NamedThing	autosomal dominant polycystic kidney disease	Autosomal dominant form of polycystic kidney disease.	DOVES_relaxed.owl
MONDO:0005835	biolink:NamedThing	Lynch syndrome	An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.	DOVES_relaxed.owl
MONDO:0007029	biolink:NamedThing	branchio-oto-renal syndrome	A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).	DOVES_relaxed.owl
MONDO:0007030	biolink:NamedThing	autosomal dominant Aarskog syndrome		DOVES_relaxed.owl
MONDO:0007057	biolink:NamedThing	acroosteolysis dominant type	Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.	DOVES_relaxed.owl
MONDO:0007086	biolink:NamedThing	autosomal dominant Alport syndrome	Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.	DOVES_relaxed.owl
MONDO:0007092	biolink:NamedThing	amelogenesis imperfecta type 1B	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene.	DOVES_relaxed.owl
MONDO:0007232	biolink:NamedThing	autosomal dominant brachyolmia	Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.	DOVES_relaxed.owl
MONDO:0007235	biolink:NamedThing	branchiooculofacial syndrome	Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.	DOVES_relaxed.owl
MONDO:0007277	biolink:NamedThing	cataract-aberrant oral frenula-growth delay syndrome	Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.	DOVES_relaxed.owl
MONDO:0007321	biolink:NamedThing	autosomal dominant chondrodysplasia punctata	Autosomal dominant form of chondrodysplasia punctata.	DOVES_relaxed.owl
MONDO:0007334	biolink:NamedThing	autosomal dominant popliteal pterygium syndrome	Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.	DOVES_relaxed.owl
MONDO:0007339	biolink:NamedThing	blepharocheilodontic syndrome	An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.	DOVES_relaxed.owl
MONDO:0007346	biolink:NamedThing	cochleosaccular degeneration-cataract syndrome	Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0007352	biolink:NamedThing	renal coloboma syndrome	Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.	DOVES_relaxed.owl
MONDO:0007356	biolink:NamedThing	Lynch syndrome 1	Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene.	DOVES_relaxed.owl
MONDO:0007412	biolink:NamedThing	Beare-Stevenson cutis gyrata syndrome	A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.	DOVES_relaxed.owl
MONDO:0007420	biolink:NamedThing	autosomal dominant deafness - onychodystrophy syndrome	Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.	DOVES_relaxed.owl
MONDO:0007478	biolink:NamedThing	autosomal dominant Kenny-Caffey syndrome	An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.	DOVES_relaxed.owl
MONDO:0007508	biolink:NamedThing	Rapp-Hodgkin syndrome	A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.	DOVES_relaxed.owl
MONDO:0007522	biolink:NamedThing	Ehlers-Danlos syndrome, classic type	Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.	DOVES_relaxed.owl
MONDO:0007524	biolink:NamedThing	autosomal dominant Ehlers-Danlos syndrome, vascular type	The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.	DOVES_relaxed.owl
MONDO:0007540	biolink:NamedThing	multiple endocrine neoplasia type 1	Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.	DOVES_relaxed.owl
MONDO:0007607	biolink:NamedThing	Birt-Hogg-Dube syndrome	Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977.	DOVES_relaxed.owl
MONDO:0007617	biolink:NamedThing	Coffin-Siris syndrome 1	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene.	DOVES_relaxed.owl
MONDO:0007624	biolink:NamedThing	Flynn-Aird syndrome	Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne.	DOVES_relaxed.owl
MONDO:0007635	biolink:NamedThing	Frasier syndrome	Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.	DOVES_relaxed.owl
MONDO:0007732	biolink:NamedThing	Holt-Oram syndrome	Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.	DOVES_relaxed.owl
MONDO:0007779	biolink:NamedThing	autosomal dominant Opitz G/BBB syndrome	Autosomal dominant form of Opitz G/BBB syndrome.	DOVES_relaxed.owl
MONDO:0007810	biolink:NamedThing	autosomal dominant ichthyosis vulgaris	Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.	DOVES_relaxed.owl
MONDO:0007818	biolink:NamedThing	hyper-IgE recurrent infection syndrome 1	A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.	DOVES_relaxed.owl
MONDO:0007848	biolink:NamedThing	autosomal dominant keratitis	Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.	DOVES_relaxed.owl
MONDO:0007850	biolink:NamedThing	autosomal dominant keratitis-ichthyosis-hearing loss syndrome	Autosomal dominant form of KID syndrome.	DOVES_relaxed.owl
MONDO:0007875	biolink:NamedThing	Larsen syndrome	Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.	DOVES_relaxed.owl
MONDO:0007893	biolink:NamedThing	Noonan syndrome with multiple lentigines	A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.	DOVES_relaxed.owl
MONDO:0007947	biolink:NamedThing	Marfan syndrome	A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.	DOVES_relaxed.owl
MONDO:0007964	biolink:NamedThing	melanoma, cutaneous malignant, susceptibility to, 2	Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)	DOVES_relaxed.owl
MONDO:0008003	biolink:NamedThing	autosomal dominant progressive external ophthalmoplegia	Autosomal dominant form of progressive external ophthalmoplegia.	DOVES_relaxed.owl
MONDO:0008009	biolink:NamedThing	monilethrix	Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.	DOVES_relaxed.owl
MONDO:0008018	biolink:NamedThing	Muir-Torre syndrome	Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.	DOVES_relaxed.owl
MONDO:0008048	biolink:NamedThing	autosomal dominant centronuclear myopathy	Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.	DOVES_relaxed.owl
MONDO:0008061	biolink:NamedThing	nail-patella syndrome	A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.	DOVES_relaxed.owl
MONDO:0008082	biolink:NamedThing	multiple endocrine neoplasia type 2B	Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus.	DOVES_relaxed.owl
MONDO:0008123	biolink:NamedThing	autosomal dominant omodysplasia	Autosomal dominant form of omodysplasia.	DOVES_relaxed.owl
MONDO:0008214	biolink:NamedThing	Pelger-Huet anomaly	An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.	DOVES_relaxed.owl
MONDO:0008234	biolink:NamedThing	multiple endocrine neoplasia type 2A	Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells.	DOVES_relaxed.owl
MONDO:0008264	biolink:NamedThing	autosomal dominant medullary cystic kidney disease with or without hyperuricemia	A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).	DOVES_relaxed.owl
MONDO:0008276	biolink:NamedThing	generalized juvenile polyposis/juvenile polyposis coli		DOVES_relaxed.owl
MONDO:0008338	biolink:NamedThing	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A		DOVES_relaxed.owl
MONDO:0008368	biolink:NamedThing	autosomal dominant distal renal tubular acidosis	Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.	DOVES_relaxed.owl
MONDO:0008382	biolink:NamedThing	retinoschisis, autosomal dominant	Autosomal dominant form of retinoschisis.	DOVES_relaxed.owl
MONDO:0008389	biolink:NamedThing	autosomal dominant Robinow syndrome	Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.	DOVES_relaxed.owl
MONDO:0008422	biolink:NamedThing	autosomal dominant sideroblastic anemia	Autosomal dominant form of sideroblastic anemia.	DOVES_relaxed.owl
MONDO:0008474	biolink:NamedThing	spondyloepiphyseal dysplasia tarda, autosomal dominant	Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.	DOVES_relaxed.owl
MONDO:0008546	biolink:NamedThing	thanatophoric dysplasia type 1	Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.	DOVES_relaxed.owl
MONDO:0008660	biolink:NamedThing	autosomal dominant hypophosphatemic rickets	Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.	DOVES_relaxed.owl
MONDO:0008682	biolink:NamedThing	Denys-Drash syndrome	Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.	DOVES_relaxed.owl
MONDO:0008742	biolink:NamedThing	autosomal dominant severe congenital neutropenia	Autosomal dominant form of severe congenital neutropenia.	DOVES_relaxed.owl
MONDO:0010842	biolink:NamedThing	multiple cutaneous and mucosal venous malformations	Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.	DOVES_relaxed.owl
MONDO:0010979	biolink:NamedThing	Timothy syndrome	Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.	DOVES_relaxed.owl
MONDO:0011335	biolink:NamedThing	spondyloepimetaphyseal dysplasia with multiple dislocations	A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.	DOVES_relaxed.owl
MONDO:0011512	biolink:NamedThing	Brooke-Spiegler syndrome	Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma.	DOVES_relaxed.owl
MONDO:0011812	biolink:NamedThing	Duane-radial ray syndrome	A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0012198	biolink:NamedThing	PCWH syndrome	A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy.	DOVES_relaxed.owl
MONDO:0012249	biolink:NamedThing	Lynch syndrome 2	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene.	DOVES_relaxed.owl
MONDO:0012417	biolink:NamedThing	heart-hand syndrome, Slovenian type	A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.	DOVES_relaxed.owl
MONDO:0012552	biolink:NamedThing	multiple endocrine neoplasia type 4	Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.	DOVES_relaxed.owl
MONDO:0012833	biolink:NamedThing	Crouzon syndrome-acanthosis nigricans syndrome	Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN).	DOVES_relaxed.owl
MONDO:0012856	biolink:NamedThing	Birk-Barel syndrome	Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).	DOVES_relaxed.owl
MONDO:0012868	biolink:NamedThing	thrombophilia due to protein S deficiency, autosomal dominant	Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.	DOVES_relaxed.owl
MONDO:0013521	biolink:NamedThing	dyskeratosis congenita, autosomal dominant 2	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.	DOVES_relaxed.owl
MONDO:0013522	biolink:NamedThing	dyskeratosis congenita, autosomal dominant 3	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.	DOVES_relaxed.owl
MONDO:0013695	biolink:NamedThing	colorectal cancer, hereditary nonpolyposis, type 6	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene.	DOVES_relaxed.owl
MONDO:0013699	biolink:NamedThing	Lynch syndrome 4	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene.	DOVES_relaxed.owl
MONDO:0013710	biolink:NamedThing	Lynch syndrome 5	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene.	DOVES_relaxed.owl
MONDO:0013725	biolink:NamedThing	colorectal cancer, hereditary nonpolyposis, type 7	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene.	DOVES_relaxed.owl
MONDO:0013819	biolink:NamedThing	intellectual disability, autosomal dominant 14	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene.	DOVES_relaxed.owl
MONDO:0013820	biolink:NamedThing	intellectual disability, autosomal dominant 15	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.	DOVES_relaxed.owl
MONDO:0013821	biolink:NamedThing	intellectual disability, autosomal dominant 16	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.	DOVES_relaxed.owl
MONDO:0014227	biolink:NamedThing	hypopigmentation-punctate palmoplantar keratoderma syndrome		DOVES_relaxed.owl
MONDO:0014376	biolink:NamedThing	intellectual disability, autosomal dominant 27		DOVES_relaxed.owl
MONDO:0014482	biolink:NamedThing	intellectual disability, autosomal dominant 29	Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene.	DOVES_relaxed.owl
MONDO:0014486	biolink:NamedThing	intellectual disability, autosomal dominant 30	Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene.	DOVES_relaxed.owl
MONDO:0014658	biolink:NamedThing	severe achondroplasia-developmental delay-acanthosis nigricans syndrome	A syndrome characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).	DOVES_relaxed.owl
MONDO:0014690	biolink:NamedThing	dyskeratosis congenita, autosomal dominant 6	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.	DOVES_relaxed.owl
MONDO:0015006	biolink:NamedThing	epidermolysis bullosa simplex 6, generalized, with scarring and hair loss		DOVES_relaxed.owl
MONDO:0015087	biolink:NamedThing	autosomal dominant complex spastic paraplegia	Autosomal dominant form of complex hereditary spastic paraplegia.	DOVES_relaxed.owl
MONDO:0015088	biolink:NamedThing	autosomal dominant pure spastic paraplegia	Autosomal dominant form of pure hereditary spastic paraplegia.	DOVES_relaxed.owl
MONDO:0015151	biolink:NamedThing	muscular dystrophy, limb-girdle, autosomal dominant	Autosomal dominant form of limb-girdle muscular dystrophy.	DOVES_relaxed.owl
MONDO:0015285	biolink:NamedThing	Carney complex	Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.	DOVES_relaxed.owl
MONDO:0015359	biolink:NamedThing	autosomal dominant hereditary demyelinating motor and sensory neuropathy		DOVES_relaxed.owl
MONDO:0015360	biolink:NamedThing	autosomal dominant hereditary axonal motor and sensory neuropathy		DOVES_relaxed.owl
MONDO:0015362	biolink:NamedThing	autosomal dominant distal hereditary motor neuropathy	Autosomal dominant form of distal hereditary motor neuropathy.	DOVES_relaxed.owl
MONDO:0015365	biolink:NamedThing	autosomal dominant hereditary sensory and autonomic neuropathy	Autosomal dominant form of hereditary sensory and autonomic neuropathy.	DOVES_relaxed.owl
MONDO:0015445	biolink:NamedThing	autosomal dominant coarctation of aorta	Autosomal dominant form of aorta coarctation.	DOVES_relaxed.owl
MONDO:0015826	biolink:NamedThing	autosomal dominant spondylocostal dysostosis	Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.	DOVES_relaxed.owl
MONDO:0015884	biolink:NamedThing	autosomal dominant hypohidrotic ectodermal dysplasia	Autosomal dominant form of hypohidrotic ectodermal dysplasia.	DOVES_relaxed.owl
MONDO:0016063	biolink:NamedThing	Cowden disease		DOVES_relaxed.owl
MONDO:0016108	biolink:NamedThing	autosomal dominant distal myopathy	Autosomal dominant form of distal myopathy.	DOVES_relaxed.owl
MONDO:0016202	biolink:NamedThing	autosomal dominant rhegmatogenous retinal detachment	Autosomal dominant form of rhegmatogenous retinal detachment.	DOVES_relaxed.owl
MONDO:0016224	biolink:NamedThing	autosomal dominant proximal spinal muscular atrophy	Autosomal dominant form of proximal spinal muscular atrophy.	DOVES_relaxed.owl
MONDO:0016599	biolink:NamedThing	autosomal dominant secondary polycythemia	Autosomal dominant form of secondary polycythemia.	DOVES_relaxed.owl
MONDO:0017829	biolink:NamedThing	autosomal dominant proximal renal tubular acidosis	Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.	DOVES_relaxed.owl
MONDO:0017846	biolink:NamedThing	autosomal dominant spastic ataxia	Autosomal dominant form of spastic ataxia.	DOVES_relaxed.owl
MONDO:0018094	biolink:NamedThing	Waardenburg syndrome	A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.	DOVES_relaxed.owl
MONDO:0018543	biolink:NamedThing	autosomal dominant hypocalcemia	Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.	DOVES_relaxed.owl
MONDO:0018954	biolink:NamedThing	Loeys-Dietz syndrome	Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.	DOVES_relaxed.owl
MONDO:0019176	biolink:NamedThing	trichorhinophalangeal syndrome type I or III	Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.	DOVES_relaxed.owl
MONDO:0019180	biolink:NamedThing	hereditary hemorrhagic telangiectasia	A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.	DOVES_relaxed.owl
MONDO:0019548	biolink:NamedThing	autosomal dominant intermediate Charcot-Marie-Tooth disease	Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.	DOVES_relaxed.owl
MONDO:0019571	biolink:NamedThing	autosomal dominant cutis laxa	Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.	DOVES_relaxed.owl
MONDO:0019587	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss	Autosomal dominant form of nonsyndromic deafness.	DOVES_relaxed.owl
MONDO:0020093	biolink:NamedThing	autosomal dominant isolated diffuse palmoplantar keratoderma	Autosomal dominant form of isolated diffuse palmoplantar keratoderma.	DOVES_relaxed.owl
MONDO:0020250	biolink:NamedThing	autosomal dominant optic atrophy	An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.	DOVES_relaxed.owl
MONDO:0020336	biolink:NamedThing	autosomal dominant Emery-Dreifuss muscular dystrophy	Autosomal dominant form of Emery-Dreifuss muscular dystrophy.	DOVES_relaxed.owl
MONDO:0020645	biolink:NamedThing	autosomal dominant osteopetrosis	Autosomal dominant form of osteopetrosis (disease).	DOVES_relaxed.owl
MONDO:0020702	biolink:NamedThing	autosomal dominant epidermolytic ichthyosis		DOVES_relaxed.owl
MONDO:0020820	biolink:NamedThing	distal arthrogryposis type 2B1		DOVES_relaxed.owl
MONDO:0022672	biolink:NamedThing	autosomal dominant cataract	A syndromic cataract that has autosomal dominant inheritance.	DOVES_relaxed.owl
MONDO:0023243	biolink:NamedThing	glass-chapman-hockley syndrome	The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder.	DOVES_relaxed.owl
MONDO:0032750	biolink:NamedThing	arthrogryposis, distal, type 2B2		DOVES_relaxed.owl
MONDO:0032751	biolink:NamedThing	arthrogryposis, distal, type 2B3		DOVES_relaxed.owl
MONDO:0033856	biolink:NamedThing	LAMA5-related multisystemic syndrome	A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder.	DOVES_relaxed.owl
MONDO:0040654	biolink:NamedThing	autosomal dominant oculocutaneous albinism	Autosomal dominant form of oculocutaneous albinism.	DOVES_relaxed.owl
MONDO:0054833	biolink:NamedThing	charcot-marie-tooth disease, axonal, type 2DD		DOVES_relaxed.owl
MONDO:0100172	biolink:NamedThing	intellectual disability, autosomal dominant		DOVES_relaxed.owl
MONDO:0100230	biolink:NamedThing	fatty acyl-CoA reductase 1 dysregulation	A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids.	DOVES_relaxed.owl
MONDO:0100441	biolink:NamedThing	GUCY2D-related dominant retinopathy	A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.	DOVES_relaxed.owl
MONDO:0100452	biolink:NamedThing	RPE65-related dominant retinopathy	A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.	DOVES_relaxed.owl
MONDO:0100494	biolink:NamedThing	autosomal dominant titinopathy	Autosomal dominant form of TTN-related myopathy.	DOVES_relaxed.owl
MONDO:0800400	biolink:NamedThing	RP1-related dominant retinopathy	An inherited retinopathy caused by bi-allelic variants in the RP1 gene.	DOVES_relaxed.owl
MONDO:8000014	biolink:NamedThing	familial antiphospholipid syndrome	Autosomal dominant form of antiphospholipid syndrome.	DOVES_relaxed.owl
MONDO:0000448	biolink:NamedThing	paraganglioma	A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases.	DOVES_relaxed.owl
MONDO:0002366	biolink:NamedThing	autonomic nervous system neoplasm	Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system.	DOVES_relaxed.owl
MONDO:0002554	biolink:NamedThing	sympathetic neurilemmoma	A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus.	DOVES_relaxed.owl
MONDO:0005033	biolink:NamedThing	ganglioneuroma	A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray.	DOVES_relaxed.owl
MONDO:0005072	biolink:NamedThing	neuroblastoma	Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system.	DOVES_relaxed.owl
MONDO:0008564	biolink:NamedThing	DiGeorge syndrome	A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.	DOVES_relaxed.owl
MONDO:0008965	biolink:NamedThing	CHARGE syndrome	CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).	DOVES_relaxed.owl
MONDO:0009131	biolink:NamedThing	Riley-Day syndrome	A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.	DOVES_relaxed.owl
MONDO:0010570	biolink:NamedThing	craniofrontonasal syndrome	An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.	DOVES_relaxed.owl
MONDO:0018975	biolink:NamedThing	neurofibromatosis type 1	A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.	DOVES_relaxed.owl
MONDO:0019187	biolink:NamedThing	Axenfeld-Rieger syndrome	Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.	DOVES_relaxed.owl
MONDO:0019518	biolink:NamedThing	Waardenburg-Shah syndrome	Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.	DOVES_relaxed.owl
MONDO:0021143	biolink:NamedThing	melanocytic neoplasm		DOVES_relaxed.owl
MONDO:0007958	biolink:NamedThing	familial medullary thyroid carcinoma	An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0018698	biolink:NamedThing	hereditary neuroendocrine tumor of small intestine	An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0018961	biolink:NamedThing	familial melanoma	Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.	DOVES_relaxed.owl
MONDO:0000450	biolink:NamedThing	secondary progressive multiple sclerosis	A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase.	DOVES_relaxed.owl
MONDO:0005284	biolink:NamedThing	chronic progressive multiple sclerosis	A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)	DOVES_relaxed.owl
MONDO:0000451	biolink:NamedThing	primary progressive multiple sclerosis	A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.	DOVES_relaxed.owl
MONDO:0000452	biolink:NamedThing	progressive relapsing multiple sclerosis	A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.	DOVES_relaxed.owl
MONDO:0000992	biolink:NamedThing	heart conduction disease	A disease that has its basis in the disruption of the heart's electrical conduction system.	DOVES_relaxed.owl
MONDO:0000465	biolink:NamedThing	atrioventricular block	A heart block that is initiated in the atrioventricular node.	DOVES_relaxed.owl
MONDO:0000469	biolink:NamedThing	sinoatrial node disorder	A disease involving the sinoatrial node.	DOVES_relaxed.owl
MONDO:0011479	biolink:NamedThing	postural orthostatic tachycardia syndrome	A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart.	DOVES_relaxed.owl
MONDO:0017990	biolink:NamedThing	catecholaminergic polymorphic ventricular tachycardia	Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.	DOVES_relaxed.owl
MONDO:0020806	biolink:NamedThing	sinoatrial block	A heart block that is initiated in the sinoatrial node.	DOVES_relaxed.owl
MONDO:0016789	biolink:NamedThing	pyruvate metabolism disorder	An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.	DOVES_relaxed.owl
MONDO:0017306	biolink:NamedThing	disorder of phenylalanine metabolism		DOVES_relaxed.owl
MONDO:0017307	biolink:NamedThing	disorder of tyrosine metabolism		DOVES_relaxed.owl
MONDO:0017350	biolink:NamedThing	inborn disorder of tryptophan metabolism	An inherited metabolic disease that is has its basis in the disruption of tryptophan metabolic process.	DOVES_relaxed.owl
MONDO:0017352	biolink:NamedThing	disorder of glutamine metabolism		DOVES_relaxed.owl
MONDO:0017684	biolink:NamedThing	disorder of beta and omega amino acid metabolism		DOVES_relaxed.owl
MONDO:0018134	biolink:NamedThing	disorder of melanin metabolism		DOVES_relaxed.owl
MONDO:0018318	biolink:NamedThing	disorder of asparagine metabolism		DOVES_relaxed.owl
MONDO:0019218	biolink:NamedThing	inborn disorder of bile acid synthesis	Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.	DOVES_relaxed.owl
MONDO:0019224	biolink:NamedThing	inborn disorder of gamma-aminobutyric acid metabolism	An inherited metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process.	DOVES_relaxed.owl
MONDO:0019230	biolink:NamedThing	inborn disorder of ornithine or proline metabolism		DOVES_relaxed.owl
MONDO:0019241	biolink:NamedThing	inborn disorder of the gamma-glutamyl cycle		DOVES_relaxed.owl
MONDO:0002412	biolink:NamedThing	disorder of glycogen metabolism	An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.	DOVES_relaxed.owl
MONDO:0016790	biolink:NamedThing	tricarboxylic acid cycle disorder	An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.	DOVES_relaxed.owl
MONDO:0019223	biolink:NamedThing	disorder of fatty acid and ketone body metabolism		DOVES_relaxed.owl
MONDO:0017713	biolink:NamedThing	disorder of fatty acid oxidation and ketogenesis		DOVES_relaxed.owl
MONDO:0020699	biolink:NamedThing	biotin metabolic disease	A deficiency in biotin through either inherited or acquired causes.	DOVES_relaxed.owl
MONDO:0037871	biolink:NamedThing	amino acid metabolism disease	A disease that has its basis in the disruption of cellular amino acid metabolic process.	DOVES_relaxed.owl
MONDO:0000457	biolink:NamedThing	classical glioblastoma	A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification.	DOVES_relaxed.owl
MONDO:0018177	biolink:NamedThing	glioblastoma	The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0000458	biolink:NamedThing	proneural glioblastoma	A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications.	DOVES_relaxed.owl
MONDO:0000459	biolink:NamedThing	mesenchymal glioblastoma	A molecular subtype of glioblastoma characterized by the presence of NF1 mutations.	DOVES_relaxed.owl
MONDO:0000460	biolink:NamedThing	neural glioblastoma	A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5.	DOVES_relaxed.owl
MONDO:0002501	biolink:NamedThing	brain glioblastoma	A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor.	DOVES_relaxed.owl
MONDO:0020690	biolink:NamedThing	adult glioblastoma		DOVES_relaxed.owl
MONDO:0000461	biolink:NamedThing	nutritional biotin deficiency		DOVES_relaxed.owl
MONDO:0001244	biolink:NamedThing	vitamin K deficiency hemorrhagic disease	Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding.	DOVES_relaxed.owl
MONDO:0007016	biolink:NamedThing	vitamin A deficiency	Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia.	DOVES_relaxed.owl
MONDO:0042976	biolink:NamedThing	vitamin B deficiency	A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat.	DOVES_relaxed.owl
MONDO:0100471	biolink:NamedThing	vitamin D deficiency	Abnormally low level of 25-hydroxyvitamin D in the blood.	DOVES_relaxed.owl
MONDO:0000462	biolink:NamedThing	eye adnexa disorder	A disease involving the ocular adnexa.	DOVES_relaxed.owl
MONDO:0002022	biolink:NamedThing	disorder of orbital region	A disease that involves the orbital region.	DOVES_relaxed.owl
MONDO:0005328	biolink:NamedThing	eye disorder	A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.	DOVES_relaxed.owl
MONDO:0040700	biolink:NamedThing	orbital dermoid cyst	A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative.	DOVES_relaxed.owl
MONDO:0043475	biolink:NamedThing	Adams-Stokes syndrome	An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery.	DOVES_relaxed.owl
MONDO:0009326	biolink:NamedThing	congenital heart block	Heart block that occurs on or before 28 days of life.	DOVES_relaxed.owl
MONDO:0005449	biolink:NamedThing	conduction system disorder	A disease involving the conducting system of heart.	DOVES_relaxed.owl
MONDO:0005476	biolink:NamedThing	atrioventricular node disorder	A disease involving the atrioventricular node.	DOVES_relaxed.owl
MONDO:0014500	biolink:NamedThing	atrial conduction disease	Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted.	DOVES_relaxed.owl
MONDO:0000470	biolink:NamedThing	endocardium disorder	A disease involving the endocardium.	DOVES_relaxed.owl
MONDO:0005267	biolink:NamedThing	heart disorder	A disease involving the heart and/or pericardium.	DOVES_relaxed.owl
MONDO:0000474	biolink:NamedThing	pericardium disorder	A disease involving the pericardium.	DOVES_relaxed.owl
MONDO:0001302	biolink:NamedThing	hypertensive heart disease	Abnormal enlargement of the heart resulting from long-standing hypertension.	DOVES_relaxed.owl
MONDO:0002869	biolink:NamedThing	heart valve disorder	A disease involving the cardial valve.	DOVES_relaxed.owl
MONDO:0005010	biolink:NamedThing	coronary artery disorder	Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)	DOVES_relaxed.owl
MONDO:0005252	biolink:NamedThing	heart failure	Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction.	DOVES_relaxed.owl
MONDO:0006779	biolink:NamedThing	heart aneurysm	A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture.	DOVES_relaxed.owl
MONDO:0007318	biolink:NamedThing	Alagille syndrome	Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.	DOVES_relaxed.owl
MONDO:0008922	biolink:NamedThing	Sengers syndrome	Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.	DOVES_relaxed.owl
MONDO:0009159	biolink:NamedThing	Ehlers-Danlos syndrome, cardiac valvular type	Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.	DOVES_relaxed.owl
MONDO:0009511	biolink:NamedThing	Larsen-like syndrome, B3GAT3 type	Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.	DOVES_relaxed.owl
MONDO:0010199	biolink:NamedThing	white forelock with malformations	White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.	DOVES_relaxed.owl
MONDO:0010711	biolink:NamedThing	TARP syndrome	A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.	DOVES_relaxed.owl
MONDO:0010825	biolink:NamedThing	atrioventricular defect-blepharophimosis-radial and anal defect syndrome	Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.	DOVES_relaxed.owl
MONDO:0011050	biolink:NamedThing	microcephaly-cardiac defect-lung malsegmentation syndrome	Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.	DOVES_relaxed.owl
MONDO:0011454	biolink:NamedThing	patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.	DOVES_relaxed.owl
MONDO:0013053	biolink:NamedThing	microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type	Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.	DOVES_relaxed.owl
MONDO:0013640	biolink:NamedThing	familial retinal arterial macroaneurysm		DOVES_relaxed.owl
MONDO:0014784	biolink:NamedThing	severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.	DOVES_relaxed.owl
MONDO:0014976	biolink:NamedThing	lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.	DOVES_relaxed.owl
MONDO:0015296	biolink:NamedThing	cardiac anomalies-heterotaxy syndrome	Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.	DOVES_relaxed.owl
MONDO:0016460	biolink:NamedThing	polyvalvular heart disease syndrome	Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.	DOVES_relaxed.owl
MONDO:0018043	biolink:NamedThing	Thomas syndrome	Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0018771	biolink:NamedThing	congenital anomaly of ventricular septum	A congenital heart malformation that involves the interventricular septum.	DOVES_relaxed.owl
MONDO:0019075	biolink:NamedThing	Bosley-Salih-Alorainy syndrome	Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.	DOVES_relaxed.owl
MONDO:0020983	biolink:NamedThing	myocardial rupture	Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION).	DOVES_relaxed.owl
MONDO:0021209	biolink:NamedThing	heart neoplasm	A neoplasm (disease) that involves the heart.	DOVES_relaxed.owl
MONDO:0021902	biolink:NamedThing	aortopulmonary window	A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery.	DOVES_relaxed.owl
MONDO:0022859	biolink:NamedThing	cor biloculare	A congenital anatomic anomaly in which the heart has only two chambers.	DOVES_relaxed.owl
MONDO:0024643	biolink:NamedThing	myocardial disorder	A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy.	DOVES_relaxed.owl
MONDO:0043529	biolink:NamedThing	carcinoid heart disease	Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation.	DOVES_relaxed.owl
MONDO:0044875	biolink:NamedThing	coronary microvascular disorder	A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom.	DOVES_relaxed.owl
MONDO:0045001	biolink:NamedThing	cardiac ventricle disorder	A disease or disorder that involves the cardiac ventricle.	DOVES_relaxed.owl
MONDO:0800175	biolink:NamedThing	cardiogenic shock	A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels.	DOVES_relaxed.owl
MONDO:0000471	biolink:NamedThing	tricuspid valve disorder	A disease involving the tricuspid valve.	DOVES_relaxed.owl
MONDO:0003628	biolink:NamedThing	pulmonary valve disorder	A disease involving the pulmonary valve.	DOVES_relaxed.owl
MONDO:0003767	biolink:NamedThing	mitral valve disorder	A disease involving the mitral valve.	DOVES_relaxed.owl
MONDO:0003803	biolink:NamedThing	aortic valve disorder	A disease involving the aortic valve.	DOVES_relaxed.owl
MONDO:0020288	biolink:NamedThing	atrioventricular valve anomaly		DOVES_relaxed.owl
MONDO:0000473	biolink:NamedThing	arterial disorder	An impairment of the structure or function of the blood vessels which carry blood away from the heart.	DOVES_relaxed.owl
MONDO:0005385	biolink:NamedThing	vascular disorder	A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome.	DOVES_relaxed.owl
MONDO:0000701	biolink:NamedThing	ischemic colitis	Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature.	DOVES_relaxed.owl
MONDO:0000831	biolink:NamedThing	thrombotic disease	The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury.	DOVES_relaxed.owl
MONDO:0001574	biolink:NamedThing	capillary disorder	A disease involving a capillary.	DOVES_relaxed.owl
MONDO:0002322	biolink:NamedThing	angiodysplasia	Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia.	DOVES_relaxed.owl
MONDO:0004634	biolink:NamedThing	vein disorder	A disease involving the vein.	DOVES_relaxed.owl
MONDO:0005053	biolink:NamedThing	ischemic disease	Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation.	DOVES_relaxed.owl
MONDO:0005294	biolink:NamedThing	peripheral vascular disease	Any disorder affecting blood flow through the veins or arteries outside of the heart.	DOVES_relaxed.owl
MONDO:0005399	biolink:NamedThing	venous thromboembolism	Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream.	DOVES_relaxed.owl
MONDO:0005552	biolink:NamedThing	ocular vascular disorder	A disorder that is caused by pathologic changes in the ocular vasculature.	DOVES_relaxed.owl
MONDO:0005568	biolink:NamedThing	cholesterol embolism	Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset.	DOVES_relaxed.owl
MONDO:0005979	biolink:NamedThing	thoracic outlet syndrome	A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip.	DOVES_relaxed.owl
MONDO:0008818	biolink:NamedThing	arterial tortuosity syndrome	Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.	DOVES_relaxed.owl
MONDO:0008895	biolink:NamedThing	hereditary arterial and articular multiple calcification syndrome	Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.	DOVES_relaxed.owl
MONDO:0013452	biolink:NamedThing	multisystemic smooth muscle dysfunction syndrome	Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals.	DOVES_relaxed.owl
MONDO:0016469	biolink:NamedThing	Ehlers-Danlos syndrome, vascular-like type	Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries.	DOVES_relaxed.owl
MONDO:0017215	biolink:NamedThing	calciphylaxis	Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition.	DOVES_relaxed.owl
MONDO:0017309	biolink:NamedThing	neonatal Marfan syndrome	Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.	DOVES_relaxed.owl
MONDO:0017314	biolink:NamedThing	Ehlers-Danlos syndrome, vascular type	Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.	DOVES_relaxed.owl
MONDO:0017818	biolink:NamedThing	lethal arteriopathy syndrome due to fibulin-4 deficiency		DOVES_relaxed.owl
MONDO:0019063	biolink:NamedThing	vascular anomaly		DOVES_relaxed.owl
MONDO:0019293	biolink:NamedThing	skin vascular disease	A disease that involves the superficial vasculature.	DOVES_relaxed.owl
MONDO:0019993	biolink:NamedThing	congenital renal artery stenosis	A narrowing of renal arteries that is present since birth.	DOVES_relaxed.owl
MONDO:0020672	biolink:NamedThing	vascular occlusion disorder	A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot.	DOVES_relaxed.owl
MONDO:0020674	biolink:NamedThing	vascular insufficiency disorder		DOVES_relaxed.owl
MONDO:0021080	biolink:NamedThing	blood vessel neoplasm	A neoplasm arising from arteries or veins.	DOVES_relaxed.owl
MONDO:0021658	biolink:NamedThing	vascular ectasia		DOVES_relaxed.owl
MONDO:0022293	biolink:NamedThing	vascular disorder of penis	A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma.	DOVES_relaxed.owl
MONDO:0023152	biolink:NamedThing	fibrocartilaginous embolism	Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disc of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy.	DOVES_relaxed.owl
MONDO:0024471	biolink:NamedThing	non-inflammatory vasculopathy		DOVES_relaxed.owl
MONDO:0036870	biolink:NamedThing	lymphatic vessel neoplasm	A benign or malignant neoplasm arising from the lymphatic vessels.	DOVES_relaxed.owl
MONDO:0043218	biolink:NamedThing	neurovascular disorder	A disorder of the nervous system related to a vascular etiology.	DOVES_relaxed.owl
MONDO:0043287	biolink:NamedThing	superior vena cava syndrome	Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache.	DOVES_relaxed.owl
MONDO:0000476	biolink:NamedThing	generalized dystonia		DOVES_relaxed.owl
MONDO:0000477	biolink:NamedThing	focal dystonia	A dystonia that is localized to a specific part of the body.	DOVES_relaxed.owl
MONDO:0000478	biolink:NamedThing	multifocal dystonia	A dystonia that involves two or more unrelated body parts.	DOVES_relaxed.owl
MONDO:0000479	biolink:NamedThing	segmental dystonia	A dystonia that affects two or more adjacent parts of the body.	DOVES_relaxed.owl
MONDO:0015494	biolink:NamedThing	isolated dystonia	A dystonia (disease) that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0017649	biolink:NamedThing	hemidystonia-hemiatrophy syndrome	Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.	DOVES_relaxed.owl
MONDO:0043969	biolink:NamedThing	nocturnal paroxysmal dystonia	A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night.	DOVES_relaxed.owl
MONDO:0044811	biolink:NamedThing	idiopathic torsion dystonia	Torsion dystonia for which no underlying cause has been identified.	DOVES_relaxed.owl
MONDO:0044843	biolink:NamedThing	torsion dystonia		DOVES_relaxed.owl
MONDO:0000480	biolink:NamedThing	anismus	A focal dystonia of the pelvic floor muscles during attempted defecation.	DOVES_relaxed.owl
MONDO:0000481	biolink:NamedThing	cervical dystonia	Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery.	DOVES_relaxed.owl
MONDO:0000482	biolink:NamedThing	focal hand dystonia	A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.	DOVES_relaxed.owl
MONDO:0000483	biolink:NamedThing	oculogyric crisis	A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.	DOVES_relaxed.owl
MONDO:0000485	biolink:NamedThing	spasmodic dystonia	A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.	DOVES_relaxed.owl
MONDO:0000486	biolink:NamedThing	craniofacial dystonia	A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.	DOVES_relaxed.owl
MONDO:0010747	biolink:NamedThing	X-linked dystonia-parkinsonism	X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.	DOVES_relaxed.owl
MONDO:0011200	biolink:NamedThing	torsion dystonia 7	A focal dystonia characterized by predomiantly cervical dystonia that has material basis in variation in the chromosome region 18p.	DOVES_relaxed.owl
MONDO:0011728	biolink:NamedThing	blepharospasm	Involuntary twitching of the eyelid.	DOVES_relaxed.owl
MONDO:0013928	biolink:NamedThing	dystonia 23	Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.	DOVES_relaxed.owl
MONDO:0019771	biolink:NamedThing	oromandibular dystonia	Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.	DOVES_relaxed.owl
MONDO:0044871	biolink:NamedThing	dystonia, focal, task-specific		DOVES_relaxed.owl
MONDO:0020120	biolink:NamedThing	skeletal muscle disorder	A disease involving the skeletal muscle tissue.	DOVES_relaxed.owl
MONDO:0002848	biolink:NamedThing	skeletal muscle neoplasm	A benign or malignant mesenchymal neoplasm arising from skeletal muscle.	DOVES_relaxed.owl
MONDO:0003528	biolink:NamedThing	Volkmann contracture	An ischemic contracture of the forearm that most often occurs secondary to trauma.	DOVES_relaxed.owl
MONDO:0007413	biolink:NamedThing	Cyprus facial-neuromusculoskeletal syndrome	Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.	DOVES_relaxed.owl
MONDO:0008901	biolink:NamedThing	Tel Hashomer camptodactyly syndrome	Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.	DOVES_relaxed.owl
MONDO:0014546	biolink:NamedThing	myopathy due to calsequestrin and SERCA1 protein overload	Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.	DOVES_relaxed.owl
MONDO:0014624	biolink:NamedThing	Brown syndrome	Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle.	DOVES_relaxed.owl
MONDO:0015994	biolink:NamedThing	muscular dystrophy-white matter spongiosis syndrome		DOVES_relaxed.owl
MONDO:0016105	biolink:NamedThing	acquired skeletal muscle disease	An instance of skeletal muscle disease that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0016120	biolink:NamedThing	myotonic syndrome		DOVES_relaxed.owl
MONDO:0016122	biolink:NamedThing	periodic paralysis		DOVES_relaxed.owl
MONDO:0004382	biolink:NamedThing	laryngeal disorder	A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma.	DOVES_relaxed.owl
MONDO:0001305	biolink:NamedThing	laryngostenosis	Narrowing of the laryngeal airway.	DOVES_relaxed.owl
MONDO:0011273	biolink:NamedThing	H syndrome	A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).	DOVES_relaxed.owl
MONDO:0015395	biolink:NamedThing	congenital subglottic stenosis		DOVES_relaxed.owl
MONDO:0020863	biolink:NamedThing	laryngeal diphtheria	Infection of the larynx by Corynebacterium diphtheriae.	DOVES_relaxed.owl
MONDO:0020974	biolink:NamedThing	laryngeal granuloma	A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX.	DOVES_relaxed.owl
MONDO:0021071	biolink:NamedThing	laryngeal neoplasm	A benign or malignant neoplasm involving the larynx.	DOVES_relaxed.owl
MONDO:0021420	biolink:NamedThing	polyp of vocal cord	A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice.	DOVES_relaxed.owl
MONDO:0043862	biolink:NamedThing	voice disorders	A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis.	DOVES_relaxed.owl
MONDO:0000487	biolink:NamedThing	hemidystonia	A multifocal dystonia that involves the arm and leg on the same side of the body.	DOVES_relaxed.owl
MONDO:0012789	biolink:NamedThing	dystonia 16	Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.	DOVES_relaxed.owl
MONDO:0014033	biolink:NamedThing	dystonia 25	Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia.	DOVES_relaxed.owl
MONDO:0000488	biolink:NamedThing	periampullary adenoma	A adenoma that involves the periampullary region of duodenum.	DOVES_relaxed.owl
MONDO:0021303	biolink:NamedThing	adenoma of small intestine	A adenoma that involves the small intestine.	DOVES_relaxed.owl
MONDO:0006187	biolink:NamedThing	duodenal villous adenoma	A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.	DOVES_relaxed.owl
MONDO:0006421	biolink:NamedThing	small intestinal tubular adenoma	A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features.	DOVES_relaxed.owl
MONDO:0006422	biolink:NamedThing	small intestinal tubulovillous adenoma	A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.	DOVES_relaxed.owl
MONDO:0021375	biolink:NamedThing	tumor of duodenum	A neoplasm (disease) that involves the duodenum.	DOVES_relaxed.owl
MONDO:0000920	biolink:NamedThing	duodenum cancer	A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma.	DOVES_relaxed.owl
MONDO:0000921	biolink:NamedThing	ampulla of vater neoplasm	A benign or malignant neoplasm involving the ampulla of Vater.	DOVES_relaxed.owl
MONDO:0006734	biolink:NamedThing	benign duodenal neoplasm	A non-metastasizing neoplasm arising from the wall of the duodenum.	DOVES_relaxed.owl
MONDO:0024500	biolink:NamedThing	duodenal neuroendocrine neoplasm	A neuroendocrine neoplasm that involves the duodenum.	DOVES_relaxed.owl
MONDO:0000490	biolink:NamedThing	glomerulosclerosis	A hardening of the kidney glomerulus caused by scarring of the blood vessels.	DOVES_relaxed.owl
MONDO:0019722	biolink:NamedThing	glomerular disorder	A disease involving the renal glomerulus.	DOVES_relaxed.owl
MONDO:0002462	biolink:NamedThing	glomerulonephritis	A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies.	DOVES_relaxed.owl
MONDO:0019068	biolink:NamedThing	congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization	A glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life.	DOVES_relaxed.owl
MONDO:0019723	biolink:NamedThing	disease of glomerular basement membrane		DOVES_relaxed.owl
MONDO:0019724	biolink:NamedThing	secondary glomerular disease	Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established.	DOVES_relaxed.owl
MONDO:0000491	biolink:NamedThing	limb ischemia	A ischemia that involves the limb.	DOVES_relaxed.owl
MONDO:0001538	biolink:NamedThing	retinal ischemia	A ischemic disease that involves the retina.	DOVES_relaxed.owl
MONDO:0005299	biolink:NamedThing	brain ischemia	Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage.	DOVES_relaxed.owl
MONDO:0020675	biolink:NamedThing	ischemic bowel disorder	Disease of the large or small intestine that is caused by inadequate blood supply.	DOVES_relaxed.owl
MONDO:0024644	biolink:NamedThing	myocardial ischemia	A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction).	DOVES_relaxed.owl
MONDO:0041114	biolink:NamedThing	peripheral ischemia	Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries.	DOVES_relaxed.owl
MONDO:0000492	biolink:NamedThing	chronic venous insufficiency	Chronic form of venous insufficiency (disease).	DOVES_relaxed.owl
MONDO:0000945	biolink:NamedThing	venous insufficiency	Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle.	DOVES_relaxed.owl
MONDO:0005928	biolink:NamedThing	post-thrombotic syndrome	A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing.	DOVES_relaxed.owl
MONDO:0000494	biolink:NamedThing	renal fibrosis	A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis.	DOVES_relaxed.owl
MONDO:0000496	biolink:NamedThing	hemorrhagic cystitis	Inflammation of the bladder resulting in bloody urine.	DOVES_relaxed.owl
MONDO:0001506	biolink:NamedThing	prostatocystitis		DOVES_relaxed.owl
MONDO:0001681	biolink:NamedThing	diphtheritic cystitis	A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder.	DOVES_relaxed.owl
MONDO:0001732	biolink:NamedThing	trigonitis	Inflammation of the trigone of the urinary bladder.	DOVES_relaxed.owl
MONDO:0004112	biolink:NamedThing	radiation cystitis	Inflammation of the bladder due to irradiation.	DOVES_relaxed.owl
MONDO:0004118	biolink:NamedThing	cystitis cystica	A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells.	DOVES_relaxed.owl
MONDO:0005742	biolink:NamedThing	emphysematous cholecystitis	Cholecystitis resulting from infection by gas producing organisms.	DOVES_relaxed.owl
MONDO:0006030	biolink:NamedThing	chronic cystitis	Recurrent infections of the urinary bladder.	DOVES_relaxed.owl
MONDO:0006633	biolink:NamedThing	acalculous cholecystitis	Inflammation of the gallbladder in the absence of gallstones.	DOVES_relaxed.owl
MONDO:0021160	biolink:NamedThing	gonococcal cystitis	An cystitis caused by infection with Neisseria gonorrhoeae.	DOVES_relaxed.owl
MONDO:0021746	biolink:NamedThing	pyelocystitis		DOVES_relaxed.owl
MONDO:0023073	biolink:NamedThing	eosinophilic cryptitis	Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications.	DOVES_relaxed.owl
MONDO:0030706	biolink:NamedThing	Trichomonas cystitis	An cystitis caused by infection with Trichomonas vaginalis.	DOVES_relaxed.owl
MONDO:0002654	biolink:NamedThing	uterine disorder	A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma.	DOVES_relaxed.owl
MONDO:0000931	biolink:NamedThing	endometrial disorder	A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma.	DOVES_relaxed.owl
MONDO:0001753	biolink:NamedThing	female infertility of uterine origin		DOVES_relaxed.owl
MONDO:0001786	biolink:NamedThing	uterine inflammatory disease		DOVES_relaxed.owl
MONDO:0001808	biolink:NamedThing	chronic subinvolution of uterus		DOVES_relaxed.owl
MONDO:0001809	biolink:NamedThing	adhesions of uterus		DOVES_relaxed.owl
MONDO:0002256	biolink:NamedThing	cervix disorder	A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma.	DOVES_relaxed.owl
MONDO:0004701	biolink:NamedThing	uterine polyp	A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection.	DOVES_relaxed.owl
MONDO:0004762	biolink:NamedThing	Taylor syndrome		DOVES_relaxed.owl
MONDO:0004936	biolink:NamedThing	uterine inversion	A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage.	DOVES_relaxed.owl
MONDO:0006782	biolink:NamedThing	hemometra	Blood-filled uterus.	DOVES_relaxed.owl
MONDO:0006887	biolink:NamedThing	parametritis	Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament.	DOVES_relaxed.owl
MONDO:0021353	biolink:NamedThing	tumor of uterus	A neoplasm (disease) that involves the uterus.	DOVES_relaxed.owl
MONDO:0023165	biolink:NamedThing	florid cystic endosalpingiosis of the uterus		DOVES_relaxed.owl
MONDO:0044101	biolink:NamedThing	pregnancy, cornual	An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus.	DOVES_relaxed.owl
MONDO:0000498	biolink:NamedThing	arteritic anterior ischemic optic neuropathy	An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis)	DOVES_relaxed.owl
MONDO:0006649	biolink:NamedThing	anterior ischemic optic neuropathy	Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful.	DOVES_relaxed.owl
MONDO:0000499	biolink:NamedThing	non-arteritic anterior ischemic optic neuropathy		DOVES_relaxed.owl
MONDO:0008538	biolink:NamedThing	temporal arteritis	Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.	DOVES_relaxed.owl
MONDO:0000500	biolink:NamedThing	tongue squamous cell carcinoma	A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis.	DOVES_relaxed.owl
MONDO:0004631	biolink:NamedThing	tongue cancer	A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas.	DOVES_relaxed.owl
MONDO:0004394	biolink:NamedThing	maxillary sinus squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	DOVES_relaxed.owl
MONDO:0021427	biolink:NamedThing	squamous cell carcinoma of lip	A squamous cell carcinoma that involves the lip.	DOVES_relaxed.owl
MONDO:0021429	biolink:NamedThing	squamous cell carcinoma of floor of mouth	A squamous cell carcinoma that involves the mouth floor.	DOVES_relaxed.owl
MONDO:0021431	biolink:NamedThing	squamous cell carcinoma of buccal mucosa	A squamous cell carcinoma that involves the buccal mucosa.	DOVES_relaxed.owl
MONDO:0021538	biolink:NamedThing	verrucous carcinoma of oral cavity	A verrucous carcinoma that involves the oral cavity.	DOVES_relaxed.owl
MONDO:0044740	biolink:NamedThing	salivary gland squamous cell carcinoma	A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course.	DOVES_relaxed.owl
MONDO:0000502	biolink:NamedThing	villous adenoma	An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina.	DOVES_relaxed.owl
MONDO:0004972	biolink:NamedThing	adenoma	A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.	DOVES_relaxed.owl
MONDO:0002058	biolink:NamedThing	breast adenoma	A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma.	DOVES_relaxed.owl
MONDO:0002197	biolink:NamedThing	minor vestibular glands adenoma	A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present.	DOVES_relaxed.owl
MONDO:0002369	biolink:NamedThing	cystadenoma	A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas.	DOVES_relaxed.owl
MONDO:0002375	biolink:NamedThing	sebaceous adenoma	A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells.	DOVES_relaxed.owl
MONDO:0002395	biolink:NamedThing	renal adenoma	An adenoma arising from the renal cortex.	DOVES_relaxed.owl
MONDO:0002450	biolink:NamedThing	prostatic adenoma	Focal benign glandular hyperplasia in the prostate gland.	DOVES_relaxed.owl
MONDO:0002533	biolink:NamedThing	papillary adenoma	An adenoma characterized by the presence of papillary epithelial patterns.	DOVES_relaxed.owl
MONDO:0003419	biolink:NamedThing	Bartholin gland adenoma	A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells.	DOVES_relaxed.owl
MONDO:0003421	biolink:NamedThing	mixed cell adenoma	An adenoma characterized by the presence of a mixed epithelial cell population.	DOVES_relaxed.owl
MONDO:0003422	biolink:NamedThing	lung adenoma	A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma.	DOVES_relaxed.owl
MONDO:0003423	biolink:NamedThing	middle ear adenoma	A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss.	DOVES_relaxed.owl
MONDO:0003424	biolink:NamedThing	oncocytic adenoma	A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland.	DOVES_relaxed.owl
MONDO:0003426	biolink:NamedThing	clear cell adenoma	A benign neoplasm composed of glands containing epithelial clear cells.	DOVES_relaxed.owl
MONDO:0003431	biolink:NamedThing	lipoadenoma	An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells.	DOVES_relaxed.owl
MONDO:0003433	biolink:NamedThing	water-clear cell adenoma	A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular.	DOVES_relaxed.owl
MONDO:0003434	biolink:NamedThing	vaginal adenoma	A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation.	DOVES_relaxed.owl
MONDO:0003435	biolink:NamedThing	microcystic adenoma	A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia.	DOVES_relaxed.owl
MONDO:0003893	biolink:NamedThing	rete testis adenoma	A benign epithelial neoplasm arising from the rete testis.	DOVES_relaxed.owl
MONDO:0003924	biolink:NamedThing	adrenal cortex adenoma	A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.)	DOVES_relaxed.owl
MONDO:0005032	biolink:NamedThing	follicular thyroid adenoma	A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics.	DOVES_relaxed.owl
MONDO:0005179	biolink:NamedThing	ovarian adenoma benign	A benign adenoma of ovary	DOVES_relaxed.owl
MONDO:0006307	biolink:NamedThing	mixed somatotroph-lactotroph pituitary gland adenoma	An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry.	DOVES_relaxed.owl
MONDO:0006373	biolink:NamedThing	pituitary gland adenoma	A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss.	DOVES_relaxed.owl
MONDO:0006890	biolink:NamedThing	parathyroid gland adenoma	A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent.	DOVES_relaxed.owl
MONDO:0018902	biolink:NamedThing	hepatocellular adenoma	A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use.	DOVES_relaxed.owl
MONDO:0021110	biolink:NamedThing	sweat gland adenoma	A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma.	DOVES_relaxed.owl
MONDO:0024660	biolink:NamedThing	tubular adenoma	A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum.	DOVES_relaxed.owl
MONDO:0024661	biolink:NamedThing	tubulovillous adenoma	An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features.	DOVES_relaxed.owl
MONDO:0024276	biolink:NamedThing	glandular cell neoplasm		DOVES_relaxed.owl
MONDO:0001704	biolink:NamedThing	vaginal glandular neoplasm	A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma.	DOVES_relaxed.owl
MONDO:0002198	biolink:NamedThing	vulvar glandular neoplasm	A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma.	DOVES_relaxed.owl
MONDO:0004005	biolink:NamedThing	rete ovarii adenoma	An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign.	DOVES_relaxed.owl
MONDO:0004970	biolink:NamedThing	adenocarcinoma	A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma.	DOVES_relaxed.owl
MONDO:0010795	biolink:NamedThing	oncocytic neoplasm	A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05)	DOVES_relaxed.owl
MONDO:0021078	biolink:NamedThing	glandular papilloma		DOVES_relaxed.owl
MONDO:0024338	biolink:NamedThing	mucinous neoplasm		DOVES_relaxed.owl
MONDO:0037256	biolink:NamedThing	serous neoplasm		DOVES_relaxed.owl
MONDO:0005023	biolink:NamedThing	ductal breast carcinoma in situ	A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS.	DOVES_relaxed.owl
MONDO:0006270	biolink:NamedThing	lobular breast carcinoma in situ	A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma.	DOVES_relaxed.owl
MONDO:0005061	biolink:NamedThing	lung adenocarcinoma	A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.	DOVES_relaxed.owl
MONDO:0000532	biolink:NamedThing	lung combined type small cell adenocarcinoma	A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin.	DOVES_relaxed.owl
MONDO:0003181	biolink:NamedThing	lung adenoid cystic carcinoma	A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain.	DOVES_relaxed.owl
MONDO:0003892	biolink:NamedThing	acinar lung adenocarcinoma	A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)	DOVES_relaxed.owl
MONDO:0004127	biolink:NamedThing	lung occult adenocarcinoma	A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.	DOVES_relaxed.owl
MONDO:0004991	biolink:NamedThing	minimally invasive lung adenocarcinoma	A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous.	DOVES_relaxed.owl
MONDO:0006049	biolink:NamedThing	papillary lung adenocarcinoma	A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures.	DOVES_relaxed.owl
MONDO:0006281	biolink:NamedThing	lung signet ring cell carcinoma	A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells.	DOVES_relaxed.owl
MONDO:0017292	biolink:NamedThing	well-differentiated fetal adenocarcinoma of the lung	Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.	DOVES_relaxed.owl
MONDO:0027772	biolink:NamedThing	lung colloid adenocarcinoma	A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells.	DOVES_relaxed.owl
MONDO:0000507	biolink:NamedThing	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.	DOVES_relaxed.owl
MONDO:0002254	biolink:NamedThing	syndromic disease	A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.	DOVES_relaxed.owl
MONDO:0000508	biolink:NamedThing	syndromic intellectual disability	A intellectual disability that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0000849	biolink:NamedThing	fibrogenesis imperfecta ossium	A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.	DOVES_relaxed.owl
MONDO:0001083	biolink:NamedThing	Fanconi renotubular syndrome	A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.	DOVES_relaxed.owl
MONDO:0001332	biolink:NamedThing	palindromic rheumatism	A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms.	DOVES_relaxed.owl
MONDO:0001558	biolink:NamedThing	Potter sequence	A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure.	DOVES_relaxed.owl
MONDO:0001631	biolink:NamedThing	vertebral artery insufficiency	A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction.	DOVES_relaxed.owl
MONDO:0001823	biolink:NamedThing	sick sinus syndrome	A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction.	DOVES_relaxed.owl
MONDO:0001858	biolink:NamedThing	Tietze syndrome	Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease.	DOVES_relaxed.owl
MONDO:0001881	biolink:NamedThing	toxic shock syndrome	A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria.	DOVES_relaxed.owl
MONDO:0001956	biolink:NamedThing	capillary leak syndrome	A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure.	DOVES_relaxed.owl
MONDO:0001979	biolink:NamedThing	dumping syndrome	A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss.	DOVES_relaxed.owl
MONDO:0002687	biolink:NamedThing	superior mesenteric artery syndrome	Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment.	DOVES_relaxed.owl
MONDO:0003157	biolink:NamedThing	disappearing bone disease	Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal.	DOVES_relaxed.owl
MONDO:0003754	biolink:NamedThing	Brown-Sequard syndrome	Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause.	DOVES_relaxed.owl
MONDO:0003962	biolink:NamedThing	Froelich syndrome	Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today.	DOVES_relaxed.owl
MONDO:0003963	biolink:NamedThing	diffuse infiltrative lymphocytosis syndrome	This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs.	DOVES_relaxed.owl
MONDO:0003965	biolink:NamedThing	Capgras syndrome	A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all.	DOVES_relaxed.owl
MONDO:0004001	biolink:NamedThing	compartment syndrome	Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space.	DOVES_relaxed.owl
MONDO:0004731	biolink:NamedThing	central sleep apnea syndrome	A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.	DOVES_relaxed.owl
MONDO:0005052	biolink:NamedThing	irritable bowel syndrome	Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterised by abdominal pain or discomfort and disordered bowel habit (diarrhoea, constipation, or fluctuation between the two).	DOVES_relaxed.owl
MONDO:0005377	biolink:NamedThing	nephrotic syndrome	A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.	DOVES_relaxed.owl
MONDO:0005404	biolink:NamedThing	myalgic encephalomeyelitis/chronic fatigue syndrome	A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities.	DOVES_relaxed.owl
MONDO:0005546	biolink:NamedThing	fibromyalgia	A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation.	DOVES_relaxed.owl
MONDO:0005567	biolink:NamedThing	substance withdrawal syndrome	A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of a substance (including alcohol, prescribed medications and recreational drugs). Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions.	DOVES_relaxed.owl
MONDO:0005663	biolink:NamedThing	Barre-Lieou syndrome	A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo.	DOVES_relaxed.owl
MONDO:0005693	biolink:NamedThing	cauda equina syndrome	Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery.	DOVES_relaxed.owl
MONDO:0005907	biolink:NamedThing	persian gulf syndrome	Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)	DOVES_relaxed.owl
MONDO:0006015	biolink:NamedThing	Waterhouse-Friderichsen syndrome	A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency.	DOVES_relaxed.owl
MONDO:0006018	biolink:NamedThing	Wissler syndrome	A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate.	DOVES_relaxed.owl
MONDO:0006502	biolink:NamedThing	acute respiratory distress syndrome	Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition.	DOVES_relaxed.owl
MONDO:0006520	biolink:NamedThing	Achenbach syndrome	A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days.	DOVES_relaxed.owl
MONDO:0006580	biolink:NamedThing	miliaria	A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands.	DOVES_relaxed.owl
MONDO:0006650	biolink:NamedThing	anterior spinal artery syndrome	Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)	DOVES_relaxed.owl
MONDO:0006687	biolink:NamedThing	burning mouth syndrome	A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth.	DOVES_relaxed.owl
MONDO:0006733	biolink:NamedThing	dry eye syndrome	A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye.	DOVES_relaxed.owl
MONDO:0006740	biolink:NamedThing	empty sella syndrome	Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.	DOVES_relaxed.owl
MONDO:0006755	biolink:NamedThing	euthyroid sick syndrome	Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness.	DOVES_relaxed.owl
MONDO:0006827	biolink:NamedThing	lateral medullary syndrome	A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking.	DOVES_relaxed.owl
MONDO:0006983	biolink:NamedThing	subclavian steal syndrome	An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention.	DOVES_relaxed.owl
MONDO:0006994	biolink:NamedThing	tarsal tunnel syndrome	Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome.	DOVES_relaxed.owl
MONDO:0006995	biolink:NamedThing	tethered spinal cord syndrome	A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence.	DOVES_relaxed.owl
MONDO:0007147	biolink:NamedThing	obstructive sleep apnea syndrome	Cessation of air flow during sleep due to upper airway obstruction.	DOVES_relaxed.owl
MONDO:0007174	biolink:NamedThing	Lown-Ganong-Levine syndrome	Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).	DOVES_relaxed.owl
MONDO:0007191	biolink:NamedThing	Behcet disease	A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.	DOVES_relaxed.owl
MONDO:0007216	biolink:NamedThing	brachydactyly type A2	Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.	DOVES_relaxed.owl
MONDO:0007227	biolink:NamedThing	Sillence syndrome	Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.	DOVES_relaxed.owl
MONDO:0007269	biolink:NamedThing	dilated cardiomyopathy 1A	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.	DOVES_relaxed.owl
MONDO:0007432	biolink:NamedThing	cerebral arteriopathy with subcortical infarcts and leukoencephalopathy		DOVES_relaxed.owl
MONDO:0007482	biolink:NamedThing	dyschondrosteosis-nephritis syndrome	Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis.	DOVES_relaxed.owl
MONDO:0007542	biolink:NamedThing	Camurati-Engelmann disease	Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.	DOVES_relaxed.owl
MONDO:0007603	biolink:NamedThing	Felty syndrome	Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.	DOVES_relaxed.owl
MONDO:0007631	biolink:NamedThing	chromosome 16p12.1 deletion syndrome, 520kb	A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.	DOVES_relaxed.owl
MONDO:0007646	biolink:NamedThing	Gamstorp-Wohlfart syndrome	A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.	DOVES_relaxed.owl
MONDO:0007666	biolink:NamedThing	glaucoma-sleep apnea syndrome	Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).	DOVES_relaxed.owl
MONDO:0007669	biolink:NamedThing	renal cysts and diabetes syndrome	Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.	DOVES_relaxed.owl
MONDO:0007679	biolink:NamedThing	GMS syndrome	GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.	DOVES_relaxed.owl
MONDO:0007686	biolink:NamedThing	gray platelet syndrome	Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.	DOVES_relaxed.owl
MONDO:0007710	biolink:NamedThing	facial hemiatrophy	Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.	DOVES_relaxed.owl
MONDO:0007711	biolink:NamedThing	Bencze syndrome	Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.	DOVES_relaxed.owl
MONDO:0007745	biolink:NamedThing	Gilbert syndrome	An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.	DOVES_relaxed.owl
MONDO:0007797	biolink:NamedThing	hypoparathyroidism-deafness-renal disease syndrome	The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.	DOVES_relaxed.owl
MONDO:0007800	biolink:NamedThing	chromosome 18p deletion syndrome	Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.	DOVES_relaxed.owl
MONDO:0007838	biolink:NamedThing	Jacobsen syndrome	A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.	DOVES_relaxed.owl
MONDO:0007863	biolink:NamedThing	Kleine-Levin syndrome	Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances.	DOVES_relaxed.owl
MONDO:0007864	biolink:NamedThing	angioosteohypertrophic syndrome	A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.	DOVES_relaxed.owl
MONDO:0007969	biolink:NamedThing	Melkersson-Rosenthal syndrome	The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected.	DOVES_relaxed.owl
MONDO:0008201	biolink:NamedThing	Perry syndrome	Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.	DOVES_relaxed.owl
MONDO:0008262	biolink:NamedThing	Poland syndrome	Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.	DOVES_relaxed.owl
MONDO:0008268	biolink:NamedThing	polydactyly-myopia syndrome	Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.	DOVES_relaxed.owl
MONDO:0008287	biolink:NamedThing	Greig cephalopolysyndactyly syndrome	Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.	DOVES_relaxed.owl
MONDO:0008323	biolink:NamedThing	Liddle syndrome	Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone.	DOVES_relaxed.owl
MONDO:0008327	biolink:NamedThing	exfoliation syndrome	An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma.	DOVES_relaxed.owl
MONDO:0008357	biolink:NamedThing	radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome	A syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.	DOVES_relaxed.owl
MONDO:0008395	biolink:NamedThing	Ruvalcaba syndrome	An extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.	DOVES_relaxed.owl
MONDO:0008491	biolink:NamedThing	stiff-person syndrome	Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.	DOVES_relaxed.owl
MONDO:0008517	biolink:NamedThing	syndactyly-polydactyly-ear lobe syndrome		DOVES_relaxed.owl
MONDO:0008585	biolink:NamedThing	HELLP syndrome	A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems.	DOVES_relaxed.owl
MONDO:0008650	biolink:NamedThing	posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome	Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	DOVES_relaxed.owl
MONDO:0008904	biolink:NamedThing	camptomelic syndrome, long-limb type		DOVES_relaxed.owl
MONDO:0008981	biolink:NamedThing	infantile choroidocerebral calcification syndrome	This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.	DOVES_relaxed.owl
MONDO:0008995	biolink:NamedThing	Yunis-Varon syndrome	Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0009044	biolink:NamedThing	Crigler-Najjar syndrome	Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.	DOVES_relaxed.owl
MONDO:0009045	biolink:NamedThing	cataract-nephropathy-encephalopathy syndrome	Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.	DOVES_relaxed.owl
MONDO:0009067	biolink:NamedThing	cystinuria	Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.	DOVES_relaxed.owl
MONDO:0009082	biolink:NamedThing	high myopia-sensorineural deafness syndrome	High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.	DOVES_relaxed.owl
MONDO:0009099	biolink:NamedThing	nephrogenic diabetes insipidus-intracranial calcification syndrome	This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0009130	biolink:NamedThing	Dyggve-Melchior-Clausen disease	Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.	DOVES_relaxed.owl
MONDO:0009133	biolink:NamedThing	cerebellar ataxia, intellectual disability, and dysequilibrium	A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.	DOVES_relaxed.owl
MONDO:0009156	biolink:NamedThing	ectrodactyly-polydactyly syndrome	A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.	DOVES_relaxed.owl
MONDO:0009181	biolink:NamedThing	epidermolysis bullosa simplex 5B, with muscular dystrophy	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.	DOVES_relaxed.owl
MONDO:0009196	biolink:NamedThing	ermine phenotype	A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.	DOVES_relaxed.owl
MONDO:0009200	biolink:NamedThing	eyebrow duplication-syndactyly syndrome	Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0009228	biolink:NamedThing	gingival fibromatosis-facial dysmorphism syndrome	Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.	DOVES_relaxed.owl
MONDO:0009276	biolink:NamedThing	Bernard-Soulier syndrome	Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.	DOVES_relaxed.owl
MONDO:0009313	biolink:NamedThing	Grubben-de Cock-Borghgraef syndrome	Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.	DOVES_relaxed.owl
MONDO:0009350	biolink:NamedThing	Holzgreve-Wagner-Rehder syndrome	A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.	DOVES_relaxed.owl
MONDO:0009380	biolink:NamedThing	Dubin-Johnson syndrome	Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.	DOVES_relaxed.owl
MONDO:0009393	biolink:NamedThing	ornithine translocase deficiency	A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.	DOVES_relaxed.owl
MONDO:0009417	biolink:NamedThing	hypergonadotropic hypogonadism-cataract syndrome	This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.	DOVES_relaxed.owl
MONDO:0009579	biolink:NamedThing	Frank-Ter Haar syndrome	A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.	DOVES_relaxed.owl
MONDO:0009624	biolink:NamedThing	microcephaly and chorioretinopathy 1	An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.	DOVES_relaxed.owl
MONDO:0009661	biolink:NamedThing	mucopolysaccharidosis type 6	Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.	DOVES_relaxed.owl
MONDO:0009721	biolink:NamedThing	Nathalie syndrome	Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.	DOVES_relaxed.owl
MONDO:0009728	biolink:NamedThing	nephronophthisis 1	Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.	DOVES_relaxed.owl
MONDO:0009798	biolink:NamedThing	intellectual disability-cataracts-calcified pinnae-myopathy syndrome	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.	DOVES_relaxed.owl
MONDO:0009809	biolink:NamedThing	multicentric osteolysis, nodulosis, and arthropathy	A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.	DOVES_relaxed.owl
MONDO:0009814	biolink:NamedThing	osteopenia-intellectual disability-sparse hair syndrome	Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.	DOVES_relaxed.owl
MONDO:0009838	biolink:NamedThing	Parana hard-skin syndrome	A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death.	DOVES_relaxed.owl
MONDO:0009871	biolink:NamedThing	pili torti-developmental delay-neurological abnormalities syndrome	Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.	DOVES_relaxed.owl
MONDO:0009874	biolink:NamedThing	Rabson-Mendenhall syndrome	Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).	DOVES_relaxed.owl
MONDO:0009904	biolink:NamedThing	Gitelman syndrome	Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.	DOVES_relaxed.owl
MONDO:0010030	biolink:NamedThing	Sjogren syndrome	An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain	DOVES_relaxed.owl
MONDO:0010121	biolink:NamedThing	thrombocytopenia-absent radius syndrome	Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.	DOVES_relaxed.owl
MONDO:0010128	biolink:NamedThing	thyrocerebrorenal syndrome	Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait.	DOVES_relaxed.owl
MONDO:0010172	biolink:NamedThing	VACTERL with hydrocephalus	VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.	DOVES_relaxed.owl
MONDO:0010207	biolink:NamedThing	woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome		DOVES_relaxed.owl
MONDO:0010263	biolink:NamedThing	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome		DOVES_relaxed.owl
MONDO:0010278	biolink:NamedThing	Christianson syndrome	A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.	DOVES_relaxed.owl
MONDO:0010284	biolink:NamedThing	Armfield syndrome	X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.	DOVES_relaxed.owl
MONDO:0010298	biolink:NamedThing	Lesch-Nyhan syndrome	Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.	DOVES_relaxed.owl
MONDO:0010323	biolink:NamedThing	Atkin-Flaitz syndrome	Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.	DOVES_relaxed.owl
MONDO:0010353	biolink:NamedThing	deafness-intellectual disability, Martin-Probst type syndrome	A syndrome characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.	DOVES_relaxed.owl
MONDO:0010382	biolink:NamedThing	fragile X-associated tremor/ataxia syndrome	Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.	DOVES_relaxed.owl
MONDO:0010383	biolink:NamedThing	fragile X syndrome	A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.	DOVES_relaxed.owl
MONDO:0010463	biolink:NamedThing	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.	DOVES_relaxed.owl
MONDO:0010533	biolink:NamedThing	Arts syndrome	Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.	DOVES_relaxed.owl
MONDO:0010539	biolink:NamedThing	X-linked mandibulofacial dysostosis	X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.	DOVES_relaxed.owl
MONDO:0010575	biolink:NamedThing	deafness-hypogonadism syndrome	This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior.	DOVES_relaxed.owl
MONDO:0010612	biolink:NamedThing	hydrocephaly-cerebellar agenesis syndrome	This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.	DOVES_relaxed.owl
MONDO:0010638	biolink:NamedThing	keratosis follicularis-dwarfism-cerebral atrophy syndrome	A syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present.	DOVES_relaxed.owl
MONDO:0010639	biolink:NamedThing	laryngeal abductor paralysis-intellectual disability syndrome	Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely.	DOVES_relaxed.owl
MONDO:0010645	biolink:NamedThing	oculocerebrorenal syndrome	Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.	DOVES_relaxed.owl
MONDO:0010651	biolink:NamedThing	Menkes disease	A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.	DOVES_relaxed.owl
MONDO:0010662	biolink:NamedThing	paraplegia-intellectual disability-hyperkeratosis syndrome	A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.	DOVES_relaxed.owl
MONDO:0010674	biolink:NamedThing	mucopolysaccharidosis type 2	A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.	DOVES_relaxed.owl
MONDO:0010704	biolink:NamedThing	otopalatodigital syndrome type 1	The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.	DOVES_relaxed.owl
MONDO:0010708	biolink:NamedThing	Pallister-W syndrome	A syndrome characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.	DOVES_relaxed.owl
MONDO:0010726	biolink:NamedThing	Rett syndrome	A severe neurodevelopmental disorder affecting the central nervous system.	DOVES_relaxed.owl
MONDO:0010728	biolink:NamedThing	SCARF syndrome	A syndrome characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.	DOVES_relaxed.owl
MONDO:0010731	biolink:NamedThing	Simpson-Golabi-Behmel syndrome	Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.	DOVES_relaxed.owl
MONDO:0010749	biolink:NamedThing	trigonocephaly-short stature-developmental delay syndrome	A syndrome characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out.	DOVES_relaxed.owl
MONDO:0010754	biolink:NamedThing	van den Bosch syndrome	A syndrome characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.	DOVES_relaxed.owl
MONDO:0010789	biolink:NamedThing	MELAS syndrome	MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.	DOVES_relaxed.owl
MONDO:0010797	biolink:NamedThing	Pearson syndrome	Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.	DOVES_relaxed.owl
MONDO:0010798	biolink:NamedThing	proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome	Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus.	DOVES_relaxed.owl
MONDO:0010802	biolink:NamedThing	pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).	DOVES_relaxed.owl
MONDO:0010814	biolink:NamedThing	chondrodysplasia-pseudohermaphroditism syndrome	Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.	DOVES_relaxed.owl
MONDO:0010816	biolink:NamedThing	Qazi Markouizos syndrome	Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.	DOVES_relaxed.owl
MONDO:0010821	biolink:NamedThing	familial developmental dysphasia	Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.	DOVES_relaxed.owl
MONDO:0010879	biolink:NamedThing	CODAS syndrome	Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.	DOVES_relaxed.owl
MONDO:0010901	biolink:NamedThing	HEC syndrome	HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed.	DOVES_relaxed.owl
MONDO:0010930	biolink:NamedThing	anophthalmia plus syndrome	Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.	DOVES_relaxed.owl
MONDO:0010971	biolink:NamedThing	infundibulopelvic stenosis-multicystic kidney syndrome	Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging.	DOVES_relaxed.owl
MONDO:0011003	biolink:NamedThing	dilated cardiomyopathy 1E	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene.	DOVES_relaxed.owl
MONDO:0011022	biolink:NamedThing	Potocki-Shaffer syndrome	Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).	DOVES_relaxed.owl
MONDO:0011110	biolink:NamedThing	dyssegmental dysplasia-glaucoma syndrome	This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children.	DOVES_relaxed.owl
MONDO:0011203	biolink:NamedThing	Pierre Robin sequence with pectus excavatum and rib and scapular anomalies		DOVES_relaxed.owl
MONDO:0011244	biolink:NamedThing	Marshall-Smith syndrome	Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.	DOVES_relaxed.owl
MONDO:0011320	biolink:NamedThing	radioulnar synostosis-microcephaly-scoliosis syndrome	An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.	DOVES_relaxed.owl
MONDO:0011441	biolink:NamedThing	complex regional pain syndrome type 1	Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.	DOVES_relaxed.owl
MONDO:0011636	biolink:NamedThing	Diamond-Blackfan anemia 2		DOVES_relaxed.owl
MONDO:0011690	biolink:NamedThing	Camurati-Engelmann disease, type 2	Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder.	DOVES_relaxed.owl
MONDO:0011758	biolink:NamedThing	Hurler syndrome	Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.	DOVES_relaxed.owl
MONDO:0011759	biolink:NamedThing	Hurler-Scheie syndrome	Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.	DOVES_relaxed.owl
MONDO:0011760	biolink:NamedThing	Scheie syndrome	Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.	DOVES_relaxed.owl
MONDO:0011849	biolink:NamedThing	psoriatic arthritis	Joint inflammation associated with psoriasis.	DOVES_relaxed.owl
MONDO:0011885	biolink:NamedThing	tubulointerstitial nephritis and uveitis syndrome	An autoimmune disorder comprising tubulointerstitial nephritis and uveitis.	DOVES_relaxed.owl
MONDO:0011959	biolink:NamedThing	sweet syndrome	Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis.	DOVES_relaxed.owl
MONDO:0012257	biolink:NamedThing	Cerebrorenodigital syndrome		DOVES_relaxed.owl
MONDO:0012275	biolink:NamedThing	fetal valproate syndrome	Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).	DOVES_relaxed.owl
MONDO:0012400	biolink:NamedThing	cortical dysplasia-focal epilepsy syndrome	An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder.	DOVES_relaxed.owl
MONDO:0012574	biolink:NamedThing	Potocki-Lupski syndrome	17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.	DOVES_relaxed.owl
MONDO:0012621	biolink:NamedThing	deafness-infertility syndrome	Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.	DOVES_relaxed.owl
MONDO:0012720	biolink:NamedThing	Krabbe disease, atypical, due to saposin A deficiency		DOVES_relaxed.owl
MONDO:0012791	biolink:NamedThing	mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.	DOVES_relaxed.owl
MONDO:0013038	biolink:NamedThing	CLOVES syndrome	A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.	DOVES_relaxed.owl
MONDO:0013150	biolink:NamedThing	parkinsonism-dystonia, infantile	Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.	DOVES_relaxed.owl
MONDO:0013325	biolink:NamedThing	COG5-congenital disorder of glycosylation	COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.	DOVES_relaxed.owl
MONDO:0013659	biolink:NamedThing	microcephaly-capillary malformation syndrome		DOVES_relaxed.owl
MONDO:0013873	biolink:NamedThing	IMAGe syndrome	IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.	DOVES_relaxed.owl
MONDO:0014247	biolink:NamedThing	familial episodic pain syndrome with predominantly lower limb involvement	A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age.	DOVES_relaxed.owl
MONDO:0014335	biolink:NamedThing	diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome		DOVES_relaxed.owl
MONDO:0014528	biolink:NamedThing	chronic atrial and intestinal dysrhythmia	A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).	DOVES_relaxed.owl
MONDO:0014952	biolink:NamedThing	intellectual disability-epilepsy-extrapyramidal syndrome		DOVES_relaxed.owl
MONDO:0015150	biolink:NamedThing	complex hereditary spastic paraplegia	A hereditary spastic paraplegia that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0015208	biolink:NamedThing	syndromic esophageal malformation	A esophageal malformation that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0015210	biolink:NamedThing	syndromic gastroduodenal malformation	A gastroduodenal malformation that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0015212	biolink:NamedThing	syndromic intestinal malformation	A intestinal malformation that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0015216	biolink:NamedThing	syndromic diaphragmatic or abdominal wall malformation	A diaphragmatic or abdominal wall malformation that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0015222	biolink:NamedThing	syndromic respiratory or mediastinal malformation	A respiratory or mediastinal malformation that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0015228	biolink:NamedThing	pentasomy X	Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).	DOVES_relaxed.owl
MONDO:0015230	biolink:NamedThing	anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome	Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.	DOVES_relaxed.owl
MONDO:0015231	biolink:NamedThing	Bartter syndrome	Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.	DOVES_relaxed.owl
MONDO:0015246	biolink:NamedThing	syndromic anorectal malformation	A anorectal malformation that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0015282	biolink:NamedThing	cardiomyopathy-cataract-hip spine disease syndrome	Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.	DOVES_relaxed.owl
MONDO:0015300	biolink:NamedThing	cataract - microcornea syndrome	Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.	DOVES_relaxed.owl
MONDO:0015311	biolink:NamedThing	autism-facial port-wine stain syndrome	This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions.	DOVES_relaxed.owl
MONDO:0015338	biolink:NamedThing	syndromic craniosynostosis	A craniosynostosis that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0015347	biolink:NamedThing	multicentric reticulohistiocytosis	Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.	DOVES_relaxed.owl
MONDO:0015431	biolink:NamedThing	ring chromosome 10	Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.	DOVES_relaxed.owl
MONDO:0015457	biolink:NamedThing	corpus callosum agenesis-double urinary collecting system syndrome		DOVES_relaxed.owl
MONDO:0015461	biolink:NamedThing	short rib-polydactyly syndrome	Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).	DOVES_relaxed.owl
MONDO:0015540	biolink:NamedThing	hemophagocytic syndrome	Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis).	DOVES_relaxed.owl
MONDO:0015620	biolink:NamedThing	syndromic urogenital tract malformation	A urogenital tract malformation that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0015691	biolink:NamedThing	hypereosinophilic syndrome	Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage.	DOVES_relaxed.owl
MONDO:0015752	biolink:NamedThing	intellectual disability-cataracts-kyphosis syndrome	This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.	DOVES_relaxed.owl
MONDO:0015762	biolink:NamedThing	progressive familial intrahepatic cholestasis	Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	DOVES_relaxed.owl
MONDO:0015778	biolink:NamedThing	syndromic hypothyroidism	A hypothyroidism that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0015846	biolink:NamedThing	syndromic uterovaginal malformation	A uterovaginal malformation that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0015892	biolink:NamedThing	growth hormone insensitivity syndrome	Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.	DOVES_relaxed.owl
MONDO:0015912	biolink:NamedThing	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.	DOVES_relaxed.owl
MONDO:0015943	biolink:NamedThing	eosinophilic granulomatosis with polyangiitis	Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia.	DOVES_relaxed.owl
MONDO:0015987	biolink:NamedThing	scimitar syndrome	Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.	DOVES_relaxed.owl
MONDO:0016008	biolink:NamedThing	fetal hydantoin syndrome	Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.	DOVES_relaxed.owl
MONDO:0016010	biolink:NamedThing	vitamin K-antagonist embryofetopathy	A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly.	DOVES_relaxed.owl
MONDO:0016017	biolink:NamedThing	methimazole embryofetopathy	Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.	DOVES_relaxed.owl
MONDO:0016030	biolink:NamedThing	Evans syndrome	Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.	DOVES_relaxed.owl
MONDO:0016067	biolink:NamedThing	Crandall syndrome	This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.	DOVES_relaxed.owl
MONDO:0016085	biolink:NamedThing	Cole-Carpenter syndrome	An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).	DOVES_relaxed.owl
MONDO:0016218	biolink:NamedThing	Guillain-Barre syndrome	A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants.	DOVES_relaxed.owl
MONDO:0016292	biolink:NamedThing	nodular neuronal heterotopia		DOVES_relaxed.owl
MONDO:0016350	biolink:NamedThing	hydrocephalus-blue sclerae-nephropathy syndrome	Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.	DOVES_relaxed.owl
MONDO:0016414	biolink:NamedThing	hypotrichosis-intellectual disability, Lopes type	A syndrome characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0016463	biolink:NamedThing	syndromic agammaglobulinemia	A agammaglobulinemia that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0016467	biolink:NamedThing	isotretinoin syndrome	Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.	DOVES_relaxed.owl
MONDO:0016516	biolink:NamedThing	Kenny-Caffey syndrome	A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia.	DOVES_relaxed.owl
MONDO:0016522	biolink:NamedThing	Kousseff syndrome	A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.	DOVES_relaxed.owl
MONDO:0016565	biolink:NamedThing	syndromic genetic obesity		DOVES_relaxed.owl
MONDO:0016758	biolink:NamedThing	microcephaly-brain defect-spasticity-hypernatremia syndrome	Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986.	DOVES_relaxed.owl
MONDO:0016818	biolink:NamedThing	Mikati-Najjar-Sahli syndrome	Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).	DOVES_relaxed.owl
MONDO:0016821	biolink:NamedThing	shoulder and girdle defects-familial intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0016989	biolink:NamedThing	Fuchs heterochromic iridocyclitis	Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.	DOVES_relaxed.owl
MONDO:0017126	biolink:NamedThing	oculo-skeletal-renal syndrome		DOVES_relaxed.owl
MONDO:0017135	biolink:NamedThing	olivopontocerebellar atrophy-deafness syndrome	Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.	DOVES_relaxed.owl
MONDO:0017195	biolink:NamedThing	Bruck syndrome	Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.	DOVES_relaxed.owl
MONDO:0017199	biolink:NamedThing	osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome	Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.	DOVES_relaxed.owl
MONDO:0017232	biolink:NamedThing	recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.	DOVES_relaxed.owl
MONDO:0017263	biolink:NamedThing	inherited ichthyosis syndromic form	A inherited ichthyosis that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0017278	biolink:NamedThing	autoimmune polyendocrinopathy	A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues.	DOVES_relaxed.owl
MONDO:0017281	biolink:NamedThing	renal caliceal diverticuli-deafness syndrome		DOVES_relaxed.owl
MONDO:0017288	biolink:NamedThing	DICER1 syndrome	A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter.	DOVES_relaxed.owl
MONDO:0017316	biolink:NamedThing	short stature-deafness-neutrophil dysfunction-dysmorphism syndrome	Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections).	DOVES_relaxed.owl
MONDO:0017372	biolink:NamedThing	congenital varicella syndrome	Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.	DOVES_relaxed.owl
MONDO:0017379	biolink:NamedThing	polyneuropathy-intellectual disability-acromicria-premature menopause syndrome	Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.	DOVES_relaxed.owl
MONDO:0017409	biolink:NamedThing	fetal cytomegalovirus syndrome	An infection with the Cytomegalovirus that is present from birth.	DOVES_relaxed.owl
MONDO:0017435	biolink:NamedThing	popliteal pterygium syndrome	A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.	DOVES_relaxed.owl
MONDO:0017583	biolink:NamedThing	mirror polydactyly-vertebral segmentation-limbs defects syndrome	Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.	DOVES_relaxed.owl
MONDO:0017613	biolink:NamedThing	intellectual disability-hypotonia-skin hyperpigmentation syndrome		DOVES_relaxed.owl
MONDO:0017642	biolink:NamedThing	intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome		DOVES_relaxed.owl
MONDO:0017782	biolink:NamedThing	developmental and speech delay due to SOX5 deficiency	A rare genetic syndrome characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).	DOVES_relaxed.owl
MONDO:0017856	biolink:NamedThing	X-linked spasticity-intellectual disability-epilepsy syndrome		DOVES_relaxed.owl
MONDO:0017918	biolink:NamedThing	white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome	White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition.	DOVES_relaxed.owl
MONDO:0017921	biolink:NamedThing	hearing loss-familial salivary gland insensitivity to aldosterone syndrome	Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0018021	biolink:NamedThing	hypotrichosis-deafness syndrome		DOVES_relaxed.owl
MONDO:0018066	biolink:NamedThing	trisomy X	Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).	DOVES_relaxed.owl
MONDO:0018092	biolink:NamedThing	Vogt-Koyanagi-Harada disease	A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.	DOVES_relaxed.owl
MONDO:0018097	biolink:NamedThing	West syndrome	West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.	DOVES_relaxed.owl
MONDO:0018105	biolink:NamedThing	Wolfram syndrome	Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).	DOVES_relaxed.owl
MONDO:0018115	biolink:NamedThing	epidermal nevus syndrome	A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.	DOVES_relaxed.owl
MONDO:0018122	biolink:NamedThing	digital anomalies-intellectual disability-short stature syndrome		DOVES_relaxed.owl
MONDO:0018229	biolink:NamedThing	Stevens-Johnson syndrome	Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.	DOVES_relaxed.owl
MONDO:0018249	biolink:NamedThing	finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome		DOVES_relaxed.owl
MONDO:0018320	biolink:NamedThing	primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		DOVES_relaxed.owl
MONDO:0018347	biolink:NamedThing	severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome		DOVES_relaxed.owl
MONDO:0018496	biolink:NamedThing	ARX-related encephalopathy-brain malformation spectrum		DOVES_relaxed.owl
MONDO:0018569	biolink:NamedThing	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.	DOVES_relaxed.owl
MONDO:0018573	biolink:NamedThing	intrauterine growth restriction-short stature-early adult-onset diabetes syndrome		DOVES_relaxed.owl
MONDO:0018574	biolink:NamedThing	intellectual disability-expressive aphasia-facial dysmorphism syndrome		DOVES_relaxed.owl
MONDO:0018690	biolink:NamedThing	Holmes-Adie syndrome	A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye.	DOVES_relaxed.owl
MONDO:0018772	biolink:NamedThing	Joubert syndrome	Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.	DOVES_relaxed.owl
MONDO:0018800	biolink:NamedThing	Kallmann syndrome	Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).	DOVES_relaxed.owl
MONDO:0018821	biolink:NamedThing	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		DOVES_relaxed.owl
MONDO:0018860	biolink:NamedThing	microlissencephaly-micromelia syndrome	Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.	DOVES_relaxed.owl
MONDO:0018878	biolink:NamedThing	branchiootic syndrome	Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).	DOVES_relaxed.owl
MONDO:0018895	biolink:NamedThing	Plummer-Vinson syndrome	Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.	DOVES_relaxed.owl
MONDO:0018912	biolink:NamedThing	Cushing syndrome	Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.	DOVES_relaxed.owl
MONDO:0018921	biolink:NamedThing	Meckel syndrome	A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.	DOVES_relaxed.owl
MONDO:0018927	biolink:NamedThing	SUNCT syndrome	SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).	DOVES_relaxed.owl
MONDO:0018937	biolink:NamedThing	mucopolysaccharidosis type 3	Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.	DOVES_relaxed.owl
MONDO:0018938	biolink:NamedThing	mucopolysaccharidosis type 4	Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.	DOVES_relaxed.owl
MONDO:0018965	biolink:NamedThing	Alport syndrome	A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities.	DOVES_relaxed.owl
MONDO:0018976	biolink:NamedThing	schisis association	The combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates.	DOVES_relaxed.owl
MONDO:0018983	biolink:NamedThing	Tolosa-Hunt syndrome	Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others.	DOVES_relaxed.owl
MONDO:0019017	biolink:NamedThing	short fifth metacarpals-insulin resistance syndrome	A syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0019103	biolink:NamedThing	benign exophthalmos syndrome	Benign exophthalmos syndrome is characterised by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions.	DOVES_relaxed.owl
MONDO:0019129	biolink:NamedThing	global developmental delay-osteopenia-ectodermal defect syndrome	This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies.	DOVES_relaxed.owl
MONDO:0019130	biolink:NamedThing	tubular renal disease-cardiomyopathy syndrome	A syndrome characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.	DOVES_relaxed.owl
MONDO:0019287	biolink:NamedThing	ectodermal dysplasia syndrome	The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.	DOVES_relaxed.owl
MONDO:0019312	biolink:NamedThing	Hermansky-Pudlak syndrome	Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.	DOVES_relaxed.owl
MONDO:0019354	biolink:NamedThing	Stickler syndrome	Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases).	DOVES_relaxed.owl
MONDO:0019414	biolink:NamedThing	BRESEK syndrome	A syndrome characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).	DOVES_relaxed.owl
MONDO:0019508	biolink:NamedThing	van der Woude syndrome	Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.	DOVES_relaxed.owl
MONDO:0019520	biolink:NamedThing	syndromic lymphedema	A lymphedema that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0019563	biolink:NamedThing	CREST syndrome	CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia.	DOVES_relaxed.owl
MONDO:0019618	biolink:NamedThing	Sheehan syndrome	An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset.	DOVES_relaxed.owl
MONDO:0019751	biolink:NamedThing	autoinflammatory syndrome	A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.	DOVES_relaxed.owl
MONDO:0019790	biolink:NamedThing	neuroleptic malignant syndrome	Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness.	DOVES_relaxed.owl
MONDO:0019828	biolink:NamedThing	pituitary stalk interruption syndrome	Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.	DOVES_relaxed.owl
MONDO:0019944	biolink:NamedThing	Eisenmenger syndrome	Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.	DOVES_relaxed.owl
MONDO:0019978	biolink:NamedThing	Robinow syndrome	Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.	DOVES_relaxed.owl
MONDO:0020148	biolink:NamedThing	syndromic aniridia	A aniridia that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0020157	biolink:NamedThing	syndromic palpebral coloboma		DOVES_relaxed.owl
MONDO:0020165	biolink:NamedThing	syndromic epicanthus		DOVES_relaxed.owl
MONDO:0020210	biolink:NamedThing	syndromic hyperopia	A hyperopia that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0020211	biolink:NamedThing	syndromic keratoconus	A keratoconus (disease) that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0020215	biolink:NamedThing	syndromic corneal dystrophy	A corneal dystrophy (disease) that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0020240	biolink:NamedThing	syndromic retinitis pigmentosa	A retinitis pigmentosa that is part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0020291	biolink:NamedThing	hypoplastic right heart syndrome	Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia.	DOVES_relaxed.owl
MONDO:0020404	biolink:NamedThing	shone complex	A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis.	DOVES_relaxed.owl
MONDO:0020435	biolink:NamedThing	atrial septal defect, coronary sinus type		DOVES_relaxed.owl
MONDO:0020572	biolink:NamedThing	complex regional pain syndrome type 2	Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area.	DOVES_relaxed.owl
MONDO:0021058	biolink:NamedThing	neoplastic syndrome	A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired.	DOVES_relaxed.owl
MONDO:0021073	biolink:NamedThing	paraneoplastic syndrome	A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm.	DOVES_relaxed.owl
MONDO:0021752	biolink:NamedThing	Achard-Thiers syndrome	Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women	DOVES_relaxed.owl
MONDO:0021761	biolink:NamedThing	acral dysostosis dyserythropoiesis syndrome	An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet.	DOVES_relaxed.owl
MONDO:0021829	biolink:NamedThing	agnathia-microstomia-synotia		DOVES_relaxed.owl
MONDO:0021836	biolink:NamedThing	Aksu von Stockhausen syndrome	A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder.	DOVES_relaxed.owl
MONDO:0021845	biolink:NamedThing	Aloi Tomasini Isaia syndrome	A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder.	DOVES_relaxed.owl
MONDO:0021895	biolink:NamedThing	temporomandibular joint dysfunction syndrome	A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disc and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management.	DOVES_relaxed.owl
MONDO:0021905	biolink:NamedThing	apert-like polydactyly syndrome		DOVES_relaxed.owl
MONDO:0021918	biolink:NamedThing	arena syndrome		DOVES_relaxed.owl
MONDO:0021921	biolink:NamedThing	Arnold stickler bourne syndrome		DOVES_relaxed.owl
MONDO:0021962	biolink:NamedThing	baetz-greenwalt syndrome		DOVES_relaxed.owl
MONDO:0021964	biolink:NamedThing	bagatelle Cassidy syndrome		DOVES_relaxed.owl
MONDO:0021966	biolink:NamedThing	baker Vinters syndrome	A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder.	DOVES_relaxed.owl
MONDO:0021969	biolink:NamedThing	Banti syndrome	A syndrome characterized by hypochromic anemia with leukopenia, splenomegaly, late onset hepatic cirrhosis and death from gastric hemorrhages.	DOVES_relaxed.owl
MONDO:0022011	biolink:NamedThing	bobble-head doll syndrome	Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain.	DOVES_relaxed.owl
MONDO:0022013	biolink:NamedThing	Boerhaave syndrome	A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part.	DOVES_relaxed.owl
MONDO:0022067	biolink:NamedThing	Cantu sanchez-corona fragoso syndrome		DOVES_relaxed.owl
MONDO:0022070	biolink:NamedThing	Cantu sanchez-corona hernandez syndrome	Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies	DOVES_relaxed.owl
MONDO:0022071	biolink:NamedThing	carbon baby syndrome	Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown.	DOVES_relaxed.owl
MONDO:0022089	biolink:NamedThing	Carnevale hernandez castillo syndrome		DOVES_relaxed.owl
MONDO:0022094	biolink:NamedThing	Cartwright Nelson Fryns syndrome		DOVES_relaxed.owl
MONDO:0022140	biolink:NamedThing	Charles bonnet syndrome	Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized.	DOVES_relaxed.owl
MONDO:0022220	biolink:NamedThing	Parinaud syndrome	A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause.	DOVES_relaxed.owl
MONDO:0022308	biolink:NamedThing	corticobasal degeneration disorder	A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment.	DOVES_relaxed.owl
MONDO:0022337	biolink:NamedThing	AIDS dysmorphic syndrome		DOVES_relaxed.owl
MONDO:0022357	biolink:NamedThing	congenital acardia		DOVES_relaxed.owl
MONDO:0022398	biolink:NamedThing	aglossia and situs inversus	A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs.	DOVES_relaxed.owl
MONDO:0022401	biolink:NamedThing	agyria pachygyria polymicrogyria	Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect.	DOVES_relaxed.owl
MONDO:0022402	biolink:NamedThing	agyria-pachygyria type 1	A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei.	DOVES_relaxed.owl
MONDO:0022403	biolink:NamedThing	Ahumada Del Castillo syndrome	A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins.	DOVES_relaxed.owl
MONDO:0022413	biolink:NamedThing	Albright-like syndrome		DOVES_relaxed.owl
MONDO:0022414	biolink:NamedThing	allain-babin-demarquez syndrome		DOVES_relaxed.owl
MONDO:0022417	biolink:NamedThing	alopecia congenita keratosis palmoplantaris		DOVES_relaxed.owl
MONDO:0022424	biolink:NamedThing	alpha-mannosidosis type 1		DOVES_relaxed.owl
MONDO:0022425	biolink:NamedThing	alpha-thalassemia-abnormal morphogenesis		DOVES_relaxed.owl
MONDO:0022428	biolink:NamedThing	aluminosis	Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax.	DOVES_relaxed.owl
MONDO:0022435	biolink:NamedThing	Mauriac syndrome	A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features.	DOVES_relaxed.owl
MONDO:0022456	biolink:NamedThing	ankle defects short stature		DOVES_relaxed.owl
MONDO:0022457	biolink:NamedThing	ankyloblepharon filiforme imperforate anus		DOVES_relaxed.owl
MONDO:0022458	biolink:NamedThing	annular constricting bands	A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand.	DOVES_relaxed.owl
MONDO:0022461	biolink:NamedThing	anophthalmia cleft palate micrognathia	A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes.	DOVES_relaxed.owl
MONDO:0022462	biolink:NamedThing	anophthalmia esophageal atresia cryptorchidism	A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder.	DOVES_relaxed.owl
MONDO:0022465	biolink:NamedThing	anotia facial palsy cardiac defect	A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot.	DOVES_relaxed.owl
MONDO:0022470	biolink:NamedThing	aortic dissection lentiginosis	A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis.	DOVES_relaxed.owl
MONDO:0022471	biolink:NamedThing	childhood aortic valve stenosis		DOVES_relaxed.owl
MONDO:0022496	biolink:NamedThing	arthrogryposis IUGR thoracic dystrophy	A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia.	DOVES_relaxed.owl
MONDO:0022500	biolink:NamedThing	arthrogryposis multiplex congenita CNS calcification	A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle.	DOVES_relaxed.owl
MONDO:0022504	biolink:NamedThing	arthrogryposis spinal muscular atrophy		DOVES_relaxed.owl
MONDO:0022509	biolink:NamedThing	asternia	Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs.	DOVES_relaxed.owl
MONDO:0022510	biolink:NamedThing	atlanto-axial fusion		DOVES_relaxed.owl
MONDO:0022513	biolink:NamedThing	atrophoderma of Pierini and Pasini	Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases.	DOVES_relaxed.owl
MONDO:0022545	biolink:NamedThing	Barnicoat Baraitser syndrome		DOVES_relaxed.owl
MONDO:0022551	biolink:NamedThing	Basedow's coma	A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor.	DOVES_relaxed.owl
MONDO:0022553	biolink:NamedThing	BD syndrome		DOVES_relaxed.owl
MONDO:0022555	biolink:NamedThing	Beardwell syndrome		DOVES_relaxed.owl
MONDO:0022567	biolink:NamedThing	bhaskar jagannathan syndrome		DOVES_relaxed.owl
MONDO:0022568	biolink:NamedThing	bidirectional tachycardia		DOVES_relaxed.owl
MONDO:0022575	biolink:NamedThing	biliary hypoplasia	A syndromic disease characterised by a small ductal system and reduction in the number of interlobular bile ducts.	DOVES_relaxed.owl
MONDO:0022576	biolink:NamedThing	bilirubin induced brain injury in the newborn		DOVES_relaxed.owl
MONDO:0022577	biolink:NamedThing	Billet bear syndrome	A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations.	DOVES_relaxed.owl
MONDO:0022580	biolink:NamedThing	blepharo naso facial syndrome van Maldergem type	A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing.	DOVES_relaxed.owl
MONDO:0022587	biolink:NamedThing	bone dysplasia corpus callosum agenesis		DOVES_relaxed.owl
MONDO:0022598	biolink:NamedThing	brachydactyly absence of distal phalanges		DOVES_relaxed.owl
MONDO:0022599	biolink:NamedThing	brachydactyly anonychia		DOVES_relaxed.owl
MONDO:0022602	biolink:NamedThing	brachydactyly small stature face anomalies		DOVES_relaxed.owl
MONDO:0022603	biolink:NamedThing	brachydactyly tibial hypoplasia		DOVES_relaxed.owl
MONDO:0022608	biolink:NamedThing	brittle bone syndrome lethal type		DOVES_relaxed.owl
MONDO:0022610	biolink:NamedThing	bronchiectasis oligospermia		DOVES_relaxed.owl
MONDO:0022612	biolink:NamedThing	Brunsting-Perry syndrome		DOVES_relaxed.owl
MONDO:0022613	biolink:NamedThing	bruyn scheltens syndrome		DOVES_relaxed.owl
MONDO:0022615	biolink:NamedThing	burn goodship syndrome		DOVES_relaxed.owl
MONDO:0022633	biolink:NamedThing	camptodactyly joint contractures and facial skeletal dysplasia		DOVES_relaxed.owl
MONDO:0022634	biolink:NamedThing	camptodactyly vertebral fusion		DOVES_relaxed.owl
MONDO:0022639	biolink:NamedThing	Cantu sanchez-corona Garcia-Cruz syndrome		DOVES_relaxed.owl
MONDO:0022644	biolink:NamedThing	cardiac hydatid cysts with intracavitary expansion		DOVES_relaxed.owl
MONDO:0022645	biolink:NamedThing	cardioencephalomyopathy		DOVES_relaxed.owl
MONDO:0022646	biolink:NamedThing	cardiofacial syndrome short limbs		DOVES_relaxed.owl
MONDO:0022647	biolink:NamedThing	cardiomelic syndrome stratton Koehler type		DOVES_relaxed.owl
MONDO:0022648	biolink:NamedThing	cardiomyopathy and deafness due to tRNA lysine gene mutation	A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms.	DOVES_relaxed.owl
MONDO:0022650	biolink:NamedThing	cardiomyopathy diabetes deafness		DOVES_relaxed.owl
MONDO:0022654	biolink:NamedThing	cardiomyopathy hypogonadism collagenoma syndrome		DOVES_relaxed.owl
MONDO:0022656	biolink:NamedThing	cardiomyopathy spherocytosis		DOVES_relaxed.owl
MONDO:0022662	biolink:NamedThing	carpo tarsal osteolysis recessive		DOVES_relaxed.owl
MONDO:0022666	biolink:NamedThing	cassavism		DOVES_relaxed.owl
MONDO:0022675	biolink:NamedThing	cataract skeletal anomalies		DOVES_relaxed.owl
MONDO:0022682	biolink:NamedThing	cennamo gangemi syndrome		DOVES_relaxed.owl
MONDO:0022685	biolink:NamedThing	cerebellar agenesis		DOVES_relaxed.owl
MONDO:0022691	biolink:NamedThing	cerebello-olivary atrophy		DOVES_relaxed.owl
MONDO:0022693	biolink:NamedThing	cerebral calcification cerebellar hypoplasia		DOVES_relaxed.owl
MONDO:0022694	biolink:NamedThing	cerebral calcifications opalescent teeth phosphaturia		DOVES_relaxed.owl
MONDO:0022712	biolink:NamedThing	oculo digital syndrome		DOVES_relaxed.owl
MONDO:0022723	biolink:NamedThing	chondrodysplasia		DOVES_relaxed.owl
MONDO:0022733	biolink:NamedThing	choreoacanthocytosis amyotrophic		DOVES_relaxed.owl
MONDO:0022734	biolink:NamedThing	chorioretinopathy dominant form microcephaly		DOVES_relaxed.owl
MONDO:0022739	biolink:NamedThing	Christian demyer franken syndrome		DOVES_relaxed.owl
MONDO:0022740	biolink:NamedThing	Christian Johnson angenieta syndrome		DOVES_relaxed.owl
MONDO:0022761	biolink:NamedThing	chromosome 3 duplication syndrome		DOVES_relaxed.owl
MONDO:0022765	biolink:NamedThing	chronic demyelinizing neuropathy with IgM monoclonal		DOVES_relaxed.owl
MONDO:0022769	biolink:NamedThing	ciliary dyskinesia-bronchiectasis		DOVES_relaxed.owl
MONDO:0022770	biolink:NamedThing	circumscribed cutaneous aplasia of the vertex		DOVES_relaxed.owl
MONDO:0022771	biolink:NamedThing	circumscribed disseminated keratosis Jadassohn lew type		DOVES_relaxed.owl
MONDO:0022775	biolink:NamedThing	cleft lip and palate malrotation cardiopathy		DOVES_relaxed.owl
MONDO:0022776	biolink:NamedThing	cleft lip and/or palate with mucous cysts of lower		DOVES_relaxed.owl
MONDO:0022777	biolink:NamedThing	cleft lip palate dysmorphism kumar type		DOVES_relaxed.owl
MONDO:0022778	biolink:NamedThing	cleft lip palate intellectual disability corneal opacity		DOVES_relaxed.owl
MONDO:0022779	biolink:NamedThing	cleft lip palate oligodontia syndactyly pili torti		DOVES_relaxed.owl
MONDO:0022780	biolink:NamedThing	cleft lip palate pituitary deficiency		DOVES_relaxed.owl
MONDO:0022781	biolink:NamedThing	cleft lip palate-tetraphocomelia		DOVES_relaxed.owl
MONDO:0022782	biolink:NamedThing	cleft lower lip cleft lateral canthi chorioretinal		DOVES_relaxed.owl
MONDO:0022785	biolink:NamedThing	cleft palate cardiac defect ectrodactyly		DOVES_relaxed.owl
MONDO:0022786	biolink:NamedThing	cleft palate colobomata radial synostosis deafness		DOVES_relaxed.owl
MONDO:0022787	biolink:NamedThing	cleft palate heart disease polydactyly absent tibia		DOVES_relaxed.owl
MONDO:0022790	biolink:NamedThing	cleft tongue		DOVES_relaxed.owl
MONDO:0022791	biolink:NamedThing	coarse face hypotonia constipation		DOVES_relaxed.owl
MONDO:0022798	biolink:NamedThing	Cohen lockood wyborney syndrome		DOVES_relaxed.owl
MONDO:0022800	biolink:NamedThing	type 2 collagenopathy	Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.	DOVES_relaxed.owl
MONDO:0022802	biolink:NamedThing	Collins-Sakati syndrome		DOVES_relaxed.owl
MONDO:0022803	biolink:NamedThing	coloboma porencephaly hydronephrosis		DOVES_relaxed.owl
MONDO:0022804	biolink:NamedThing	colobomata unilobar lung heart defect		DOVES_relaxed.owl
MONDO:0022805	biolink:NamedThing	colonic malakoplakia		DOVES_relaxed.owl
MONDO:0022809	biolink:NamedThing	Colver Steer Godman syndrome		DOVES_relaxed.owl
MONDO:0022810	biolink:NamedThing	Combarros Calleja Leno syndrome		DOVES_relaxed.owl
MONDO:0022815	biolink:NamedThing	congenital absence of the sternocleidomastoid muscle		DOVES_relaxed.owl
MONDO:0022817	biolink:NamedThing	congenital amputation		DOVES_relaxed.owl
MONDO:0022818	biolink:NamedThing	congenital aneurysms of the great vessels		DOVES_relaxed.owl
MONDO:0022819	biolink:NamedThing	congenital arteriovenous shunt		DOVES_relaxed.owl
MONDO:0022820	biolink:NamedThing	congenital articular rigidity		DOVES_relaxed.owl
MONDO:0022821	biolink:NamedThing	congenital benign spinal muscular atrophy dominant		DOVES_relaxed.owl
MONDO:0022822	biolink:NamedThing	congenital cardiovascular shunt		DOVES_relaxed.owl
MONDO:0022823	biolink:NamedThing	congenital contractures		DOVES_relaxed.owl
MONDO:0022824	biolink:NamedThing	congenital craniosynostosis maternal hyperthyroiditis		DOVES_relaxed.owl
MONDO:0022825	biolink:NamedThing	congenital cystic eye		DOVES_relaxed.owl
MONDO:0022831	biolink:NamedThing	congenital heart disease ptosis hypodontia craniostosis		DOVES_relaxed.owl
MONDO:0022832	biolink:NamedThing	congenital heart disease radio ulnar synostosis intellectual disability		DOVES_relaxed.owl
MONDO:0022843	biolink:NamedThing	congenital mumps		DOVES_relaxed.owl
MONDO:0022849	biolink:NamedThing	congenital stenosis of cervical medullary canal		DOVES_relaxed.owl
MONDO:0022851	biolink:NamedThing	Dennis-Fairhurst-Moore syndrome	A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder.	DOVES_relaxed.owl
MONDO:0022854	biolink:NamedThing	congenital unilateral pulmonary hypoplasia		DOVES_relaxed.owl
MONDO:0022855	biolink:NamedThing	congenital vagal hyperreflexivity		DOVES_relaxed.owl
MONDO:0022858	biolink:NamedThing	continuous spike-wave during slow sleep syndrome		DOVES_relaxed.owl
MONDO:0022862	biolink:NamedThing	cormier rustin munnich syndrome		DOVES_relaxed.owl
MONDO:0022863	biolink:NamedThing	corneal crystals myopathy neuropathy		DOVES_relaxed.owl
MONDO:0022865	biolink:NamedThing	corneal dystrophy ichthyosis microcephaly intellectual disability		DOVES_relaxed.owl
MONDO:0022866	biolink:NamedThing	corneal dystrophy pigmentary anomaly malabsorption		DOVES_relaxed.owl
MONDO:0022869	biolink:NamedThing	coronary arteries congenital malformation		DOVES_relaxed.owl
MONDO:0022875	biolink:NamedThing	cortada Koussef Matsumoto syndrome		DOVES_relaxed.owl
MONDO:0022876	biolink:NamedThing	Cortes Lacassie syndrome		DOVES_relaxed.owl
MONDO:0022883	biolink:NamedThing	craniofacial and skeletal defects		DOVES_relaxed.owl
MONDO:0022884	biolink:NamedThing	craniofacial dysostosis arthrogryposis progeroid appearence		DOVES_relaxed.owl
MONDO:0022887	biolink:NamedThing	craniofrontonasal syndrome Teebi type		DOVES_relaxed.owl
MONDO:0022889	biolink:NamedThing	craniostenosis with congenital heart disease intellectual disability		DOVES_relaxed.owl
MONDO:0022899	biolink:NamedThing	crawfurd syndrome		DOVES_relaxed.owl
MONDO:0022908	biolink:NamedThing	cutis gyratum acanthosis nigricans craniosynostosis		DOVES_relaxed.owl
MONDO:0022909	biolink:NamedThing	cutis laxa osteoporosis		DOVES_relaxed.owl
MONDO:0022913	biolink:NamedThing	cutler bass Romshe syndrome		DOVES_relaxed.owl
MONDO:0022932	biolink:NamedThing	Davenport-Donlan syndrome	An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder.	DOVES_relaxed.owl
MONDO:0022934	biolink:NamedThing	Davis Lafer syndrome		DOVES_relaxed.owl
MONDO:0022936	biolink:NamedThing	de Hauwere Leroy adriaenssens syndrome		DOVES_relaxed.owl
MONDO:0022937	biolink:NamedThing	deafness conductive stapedial ear malformation facial palsy		DOVES_relaxed.owl
MONDO:0022938	biolink:NamedThing	deafness goiter stippled epiphyses		DOVES_relaxed.owl
MONDO:0022941	biolink:NamedThing	deafness hypospadias metacarpal and metatarsal syndrome		DOVES_relaxed.owl
MONDO:0022942	biolink:NamedThing	deafness mesenteric diverticula of small bowel neuropathy		DOVES_relaxed.owl
MONDO:0022945	biolink:NamedThing	deafness peripheral neuropathy arterial disease		DOVES_relaxed.owl
MONDO:0022946	biolink:NamedThing	deafness progressive cataract autosomal dominant		DOVES_relaxed.owl
MONDO:0022960	biolink:NamedThing	dermatocardioskeletal syndrome boronne type		DOVES_relaxed.owl
MONDO:0022968	biolink:NamedThing	dextrocardia with situs inversus	Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus.	DOVES_relaxed.owl
MONDO:0022971	biolink:NamedThing	diabetes persistent mullerian ducts		DOVES_relaxed.owl
MONDO:0022975	biolink:NamedThing	diaphragmatic agenesis radial aplasia omphalocele		DOVES_relaxed.owl
MONDO:0022977	biolink:NamedThing	diaphragmatic hernia exomphalos corpus callosum agenesis		DOVES_relaxed.owl
MONDO:0022978	biolink:NamedThing	diaphragmatic hernia upper limb defects		DOVES_relaxed.owl
MONDO:0022981	biolink:NamedThing	die Smulders droog van dijk syndrome		DOVES_relaxed.owl
MONDO:0022982	biolink:NamedThing	die Smulders Vles Fryns syndrome		DOVES_relaxed.owl
MONDO:0022989	biolink:NamedThing	diomedi bernardi placidi syndrome		DOVES_relaxed.owl
MONDO:0022990	biolink:NamedThing	diphallus rachischisis imperforate anus		DOVES_relaxed.owl
MONDO:0022999	biolink:NamedThing	distichiasis heart congenital anomalies		DOVES_relaxed.owl
MONDO:0023002	biolink:NamedThing	double discordia		DOVES_relaxed.owl
MONDO:0023005	biolink:NamedThing	double uterus-hemivagina-renal agenesis		DOVES_relaxed.owl
MONDO:0023013	biolink:NamedThing	Duker-Weiss-Siber syndrome		DOVES_relaxed.owl
MONDO:0023015	biolink:NamedThing	duodenal atresia tetralogy of fallot		DOVES_relaxed.owl
MONDO:0023016	biolink:NamedThing	duplication of leg mirror foot		DOVES_relaxed.owl
MONDO:0023017	biolink:NamedThing	duplication of the thumb unilateral biphalangeal		DOVES_relaxed.owl
MONDO:0023018	biolink:NamedThing	dupont sellier chochillon syndrome		DOVES_relaxed.owl
MONDO:0023019	biolink:NamedThing	dwarfism bluish sclerae		DOVES_relaxed.owl
MONDO:0023020	biolink:NamedThing	dwarfism deafness retinitis pigmentosa		DOVES_relaxed.owl
MONDO:0023021	biolink:NamedThing	dwarfism lethal type advanced bone age		DOVES_relaxed.owl
MONDO:0023022	biolink:NamedThing	dwarfism thin bones multiple fractures		DOVES_relaxed.owl
MONDO:0023030	biolink:NamedThing	dysmorphism cleft palate loose skin		DOVES_relaxed.owl
MONDO:0023035	biolink:NamedThing	Eagle syndrome	Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%.	DOVES_relaxed.owl
MONDO:0023038	biolink:NamedThing	eccentrochondrodysplasia		DOVES_relaxed.owl
MONDO:0023050	biolink:NamedThing	ectrodactyly cardiopathy dysmorphism		DOVES_relaxed.owl
MONDO:0023059	biolink:NamedThing	Elliott ludman Teebi syndrome		DOVES_relaxed.owl
MONDO:0023061	biolink:NamedThing	enamel hypoplasia cataract hydrocephaly		DOVES_relaxed.owl
MONDO:0023062	biolink:NamedThing	encephalocele anencephaly		DOVES_relaxed.owl
MONDO:0023066	biolink:NamedThing	enchondromatosis dwarfism deafness		DOVES_relaxed.owl
MONDO:0023068	biolink:NamedThing	engelhard yatziv syndrome		DOVES_relaxed.owl
MONDO:0023069	biolink:NamedThing	enlarged vestibular aqueduct syndrome		DOVES_relaxed.owl
MONDO:0023079	biolink:NamedThing	epidermal nevus vitamin D resistant rickets		DOVES_relaxed.owl
MONDO:0023083	biolink:NamedThing	epimetaphyseal dysplasia cataract		DOVES_relaxed.owl
MONDO:0023084	biolink:NamedThing	epiphyseal dysplasia dysmorphism camptodactyly		DOVES_relaxed.owl
MONDO:0023091	biolink:NamedThing	esophageal atresia coloboma talipes		DOVES_relaxed.owl
MONDO:0023098	biolink:NamedThing	extrasystoles short stature hyperpigmentation microcephaly		DOVES_relaxed.owl
MONDO:0023100	biolink:NamedThing	facial clefting corpus callosum agenesis		DOVES_relaxed.owl
MONDO:0023101	biolink:NamedThing	facio digito genital syndrome recessive form		DOVES_relaxed.owl
MONDO:0023102	biolink:NamedThing	facio skeletal genital syndrome rippberger type		DOVES_relaxed.owl
MONDO:0023111	biolink:NamedThing	familial capillaro-venous leptomeningeal angiomatosis		DOVES_relaxed.owl
MONDO:0023124	biolink:NamedThing	familial pulmonary arterial hypertension leucopenia and atrial septal defect		DOVES_relaxed.owl
MONDO:0023133	biolink:NamedThing	Faye-Petersen-Ward-Carey syndrome		DOVES_relaxed.owl
MONDO:0023137	biolink:NamedThing	feigenbaum Bergeron syndrome		DOVES_relaxed.owl
MONDO:0023138	biolink:NamedThing	Feingold trainer syndrome		DOVES_relaxed.owl
MONDO:0023140	biolink:NamedThing	fenton Wilkinson Toselano syndrome		DOVES_relaxed.owl
MONDO:0023142	biolink:NamedThing	fetal brain disruption sequence		DOVES_relaxed.owl
MONDO:0023143	biolink:NamedThing	fetal enterovirus syndrome		DOVES_relaxed.owl
MONDO:0023147	biolink:NamedThing	fetal parainfluenza virus type 3 syndrome	A syndrome caused by HPIV-3.	DOVES_relaxed.owl
MONDO:0023148	biolink:NamedThing	fetal phenothiazine syndrome		DOVES_relaxed.owl
MONDO:0023154	biolink:NamedThing	fibromatosis multiple non ossifying		DOVES_relaxed.owl
MONDO:0023155	biolink:NamedThing	fibula aplasia complex brachydactyly		DOVES_relaxed.owl
MONDO:0023157	biolink:NamedThing	fibular hypoplasia scapulo pelvic dysplasia absent		DOVES_relaxed.owl
MONDO:0023158	biolink:NamedThing	Fitz-Hugh-Curtis syndrome	Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics.	DOVES_relaxed.owl
MONDO:0023167	biolink:NamedThing	focal alopecia congenital megalencephaly		DOVES_relaxed.owl
MONDO:0023170	biolink:NamedThing	focal or multifocal malformations in neuronal migration		DOVES_relaxed.owl
MONDO:0023171	biolink:NamedThing	foix chavany Marie syndrome	Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.	DOVES_relaxed.owl
MONDO:0023175	biolink:NamedThing	Fontaine farriaux blanckaert syndrome		DOVES_relaxed.owl
MONDO:0023186	biolink:NamedThing	Fraser Jequier Chen syndrome		DOVES_relaxed.owl
MONDO:0023188	biolink:NamedThing	Freiberg disease	Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient.	DOVES_relaxed.owl
MONDO:0023193	biolink:NamedThing	Friedman Goodman syndrome		DOVES_relaxed.owl
MONDO:0023194	biolink:NamedThing	frints de Smet Fabry Fryns syndrome		DOVES_relaxed.owl
MONDO:0023196	biolink:NamedThing	frontonasal malformation cloacal exstrophy		DOVES_relaxed.owl
MONDO:0023197	biolink:NamedThing	frontonasal dysplasia Klippel feil syndrome		DOVES_relaxed.owl
MONDO:0023199	biolink:NamedThing	frontonasal dysplasia phocomelic upper limbs		DOVES_relaxed.owl
MONDO:0023200	biolink:NamedThing	Fryns Fabry Remans syndrome		DOVES_relaxed.owl
MONDO:0023201	biolink:NamedThing	Fryns Smeets Thiry syndrome		DOVES_relaxed.owl
MONDO:0023203	biolink:NamedThing	Fuchs atrophia gyrata chorioideae et retinae		DOVES_relaxed.owl
MONDO:0023204	biolink:NamedThing	Fukuda-Miyanomae-Nakata syndrome		DOVES_relaxed.owl
MONDO:0023208	biolink:NamedThing	Fuqua Berkovitz syndrome		DOVES_relaxed.owl
MONDO:0023212	biolink:NamedThing	Garret-Tripp syndrome		DOVES_relaxed.owl
MONDO:0023214	biolink:NamedThing	gas bloat syndrome		DOVES_relaxed.owl
MONDO:0023221	biolink:NamedThing	Gaucher ichthyosis restrictive dermopathy		DOVES_relaxed.owl
MONDO:0023226	biolink:NamedThing	gershinibaruch Leibo syndrome		DOVES_relaxed.owl
MONDO:0023230	biolink:NamedThing	Ghose-Sachdev-Kumar syndrome		DOVES_relaxed.owl
MONDO:0023240	biolink:NamedThing	gigantism advanced bone age hoarse cry		DOVES_relaxed.owl
MONDO:0023255	biolink:NamedThing	glossopalatine ankylosis micrognathia ear anomalies		DOVES_relaxed.owl
MONDO:0023267	biolink:NamedThing	goldstein hutt syndrome		DOVES_relaxed.owl
MONDO:0023272	biolink:NamedThing	goniodysgenesis intellectual disability short stature		DOVES_relaxed.owl
MONDO:0023288	biolink:NamedThing	green sandford davison syndrome		DOVES_relaxed.owl
MONDO:0023290	biolink:NamedThing	grix Blankenship Peterson syndrome		DOVES_relaxed.owl
MONDO:0023368	biolink:NamedThing	Ho-Kaufman-McAlister syndrome	Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet	DOVES_relaxed.owl
MONDO:0023510	biolink:NamedThing	Jaffer-Beighton syndrome		DOVES_relaxed.owl
MONDO:0023540	biolink:NamedThing	Kashani-Strom-Utley syndrome		DOVES_relaxed.owl
MONDO:0023541	biolink:NamedThing	Kasznica-Carlson-Coppedge syndrome		DOVES_relaxed.owl
MONDO:0023561	biolink:NamedThing	Koone-Rizzo-Elias syndrome		DOVES_relaxed.owl
MONDO:0023567	biolink:NamedThing	Kozlowski Brown Hardwick syndrome		DOVES_relaxed.owl
MONDO:0023569	biolink:NamedThing	Kozlowski Ouvrier syndrome		DOVES_relaxed.owl
MONDO:0023571	biolink:NamedThing	Kozlowski Rafinski Klicharska syndrome		DOVES_relaxed.owl
MONDO:0023573	biolink:NamedThing	Kozlowski Warren Fisher syndrome		DOVES_relaxed.owl
MONDO:0023575	biolink:NamedThing	Krauss Herman Holmes syndrome		DOVES_relaxed.owl
MONDO:0023577	biolink:NamedThing	Krieble Bixler syndrome		DOVES_relaxed.owl
MONDO:0023579	biolink:NamedThing	Kuster Majewski Hammerstein syndrome		DOVES_relaxed.owl
MONDO:0023581	biolink:NamedThing	Kuster syndrome		DOVES_relaxed.owl
MONDO:0023605	biolink:NamedThing	Laugier-Hunziker syndrome		DOVES_relaxed.owl
MONDO:0023607	biolink:NamedThing	Laurence-Prosser-Rocker syndrome		DOVES_relaxed.owl
MONDO:0023609	biolink:NamedThing	le Marec-Bracq-Picaud syndrome		DOVES_relaxed.owl
MONDO:0023628	biolink:NamedThing	levator syndrome	Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms.	DOVES_relaxed.owl
MONDO:0023696	biolink:NamedThing	Marinesco-Sjogren-like syndrome	A disease with similar features to Marinesco-Sjogren syndrome.	DOVES_relaxed.owl
MONDO:0023809	biolink:NamedThing	Milner-Khallouf-Gibson syndrome		DOVES_relaxed.owl
MONDO:0024171	biolink:NamedThing	radio-digito-facial dysplasia		DOVES_relaxed.owl
MONDO:0024234	biolink:NamedThing	Seckel like syndrome majoor-krakauer type		DOVES_relaxed.owl
MONDO:0024418	biolink:NamedThing	muscular fibrosis multifocal obstructed vessels		DOVES_relaxed.owl
MONDO:0024421	biolink:NamedThing	short stature contractures hypotonia		DOVES_relaxed.owl
MONDO:0024429	biolink:NamedThing	Alice in Wonderland syndrome	A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities.	DOVES_relaxed.owl
MONDO:0026730	biolink:NamedThing	Basilicata-Akhtar syndrome		DOVES_relaxed.owl
MONDO:0034204	biolink:NamedThing	syndromic congenital sodium diarrhea		DOVES_relaxed.owl
MONDO:0034661	biolink:NamedThing	syndromic biliary atresia		DOVES_relaxed.owl
MONDO:0034820	biolink:NamedThing	cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome	A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss.	DOVES_relaxed.owl
MONDO:0034823	biolink:NamedThing	oral-facial-digital syndrome with short stature and brachymesophalangy	A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.	DOVES_relaxed.owl
MONDO:0034895	biolink:NamedThing	congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome	A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.	DOVES_relaxed.owl
MONDO:0034989	biolink:NamedThing	intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy.	DOVES_relaxed.owl
MONDO:0034991	biolink:NamedThing	intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome	A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.	DOVES_relaxed.owl
MONDO:0035018	biolink:NamedThing	frontonasal dysplasia-bifid nose-upper limb anomalies syndrome	A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.	DOVES_relaxed.owl
MONDO:0035027	biolink:NamedThing	microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome		DOVES_relaxed.owl
MONDO:0035105	biolink:NamedThing	diaphragmatic hernia-short bowel-asplenia syndrome	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.	DOVES_relaxed.owl
MONDO:0035122	biolink:NamedThing	GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder		DOVES_relaxed.owl
MONDO:0035454	biolink:NamedThing	B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome		DOVES_relaxed.owl
MONDO:0035586	biolink:NamedThing	Cramp-fasciculation syndrome		DOVES_relaxed.owl
MONDO:0035651	biolink:NamedThing	choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome		DOVES_relaxed.owl
MONDO:0035661	biolink:NamedThing	TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome	A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.	DOVES_relaxed.owl
MONDO:0035682	biolink:NamedThing	fibrous dysplasia/McCune-Albright syndrome		DOVES_relaxed.owl
MONDO:0035689	biolink:NamedThing	syndrome of reduced sensitivity to thyroid hormone		DOVES_relaxed.owl
MONDO:0035706	biolink:NamedThing	SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome		DOVES_relaxed.owl
MONDO:0035707	biolink:NamedThing	blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome		DOVES_relaxed.owl
MONDO:0035775	biolink:NamedThing	CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome		DOVES_relaxed.owl
MONDO:0035819	biolink:NamedThing	cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome		DOVES_relaxed.owl
MONDO:0035823	biolink:NamedThing	KLHL7-related Bohring-Opitz-like syndrome		DOVES_relaxed.owl
MONDO:0035824	biolink:NamedThing	KLHL7-related cold-induced sweating-like syndrome		DOVES_relaxed.owl
MONDO:0042498	biolink:NamedThing	Ruzicka-Goerz-Anton syndrome		DOVES_relaxed.owl
MONDO:0042600	biolink:NamedThing	Sammartino-Decreccio syndrome		DOVES_relaxed.owl
MONDO:0042601	biolink:NamedThing	Samson-Gardner syndrome		DOVES_relaxed.owl
MONDO:0042602	biolink:NamedThing	Samson-Viljoen syndrome		DOVES_relaxed.owl
MONDO:0042603	biolink:NamedThing	Sanderson-Fraser syndrome		DOVES_relaxed.owl
MONDO:0042604	biolink:NamedThing	Sandhaus-Ben-Ami syndrome		DOVES_relaxed.owl
MONDO:0042705	biolink:NamedThing	prostatic malacoplakia associated with prostatic abscess		DOVES_relaxed.owl
MONDO:0042717	biolink:NamedThing	Saul-Wilkes-Stevenson syndrome		DOVES_relaxed.owl
MONDO:0042724	biolink:NamedThing	macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations		DOVES_relaxed.owl
MONDO:0042726	biolink:NamedThing	macrogyria, pseudobulbar palsy and intellectual disability		DOVES_relaxed.owl
MONDO:0042902	biolink:NamedThing	Say-Carpenter syndrome		DOVES_relaxed.owl
MONDO:0042911	biolink:NamedThing	Schwartz-Cohen-addad-Lambert syndrome		DOVES_relaxed.owl
MONDO:0042912	biolink:NamedThing	Schlegelberger-Grote syndrome		DOVES_relaxed.owl
MONDO:0042913	biolink:NamedThing	Schrander-stumpel-Theunissen-Hulsmans syndrome		DOVES_relaxed.owl
MONDO:0042924	biolink:NamedThing	Vagneur-Triolle-Ripert syndrome		DOVES_relaxed.owl
MONDO:0042956	biolink:NamedThing	Saal-Bulas syndrome		DOVES_relaxed.owl
MONDO:0042960	biolink:NamedThing	Sackey-Sakati-Aur syndrome		DOVES_relaxed.owl
MONDO:0042962	biolink:NamedThing	Slti-Salem syndrome		DOVES_relaxed.owl
MONDO:0043069	biolink:NamedThing	Zerres Rietschel Majewski syndrome		DOVES_relaxed.owl
MONDO:0043073	biolink:NamedThing	Zadik-Barak-Levin syndrome		DOVES_relaxed.owl
MONDO:0043087	biolink:NamedThing	thickened earlobes with conductive deafness from incus-stapes abnormalities		DOVES_relaxed.owl
MONDO:0043108	biolink:NamedThing	infantile striato thalamic degeneration		DOVES_relaxed.owl
MONDO:0043114	biolink:NamedThing	Landy-Donnai syndrome		DOVES_relaxed.owl
MONDO:0043129	biolink:NamedThing	merlob grunebaum reisner syndrome		DOVES_relaxed.owl
MONDO:0043170	biolink:NamedThing	Pavone Fiumara Rizzo syndrome		DOVES_relaxed.owl
MONDO:0043172	biolink:NamedThing	pfeiffer rockelein syndrome		DOVES_relaxed.owl
MONDO:0043174	biolink:NamedThing	Pfeiffer Tietze Welte syndrome		DOVES_relaxed.owl
MONDO:0043176	biolink:NamedThing	phosphoribosylpyrophosphate synthetase deficiency		DOVES_relaxed.owl
MONDO:0043179	biolink:NamedThing	piepkorn karp hickok syndrome		DOVES_relaxed.owl
MONDO:0043183	biolink:NamedThing	podder-tolmie syndrome		DOVES_relaxed.owl
MONDO:0043185	biolink:NamedThing	pointer syndrome		DOVES_relaxed.owl
MONDO:0043193	biolink:NamedThing	richieri-costa guion-almeida cohen syndrome		DOVES_relaxed.owl
MONDO:0043195	biolink:NamedThing	Rubinstein Taybi like syndrome		DOVES_relaxed.owl
MONDO:0043197	biolink:NamedThing	ruvalcaba churesigaew myhre syndrome		DOVES_relaxed.owl
MONDO:0043199	biolink:NamedThing	short limb dwarf lethal colavita kozlowski type		DOVES_relaxed.owl
MONDO:0043247	biolink:NamedThing	Mallory-Weiss syndrome	A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics.	DOVES_relaxed.owl
MONDO:0043320	biolink:NamedThing	piriformis syndrome	A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica.	DOVES_relaxed.owl
MONDO:0043358	biolink:NamedThing	engraftment syndrome	A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation.	DOVES_relaxed.owl
MONDO:0043683	biolink:NamedThing	Leriche syndrome	An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention.	DOVES_relaxed.owl
MONDO:0043726	biolink:NamedThing	multiple organ dysfunction syndrome	The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult.	DOVES_relaxed.owl
MONDO:0044033	biolink:NamedThing	posterior leukoencephalopathy syndrome	An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment.	DOVES_relaxed.owl
MONDO:0044079	biolink:NamedThing	cardio-renal syndrome	A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ.	DOVES_relaxed.owl
MONDO:0044323	biolink:NamedThing	Rahman syndrome	Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}).	DOVES_relaxed.owl
MONDO:0044617	biolink:NamedThing	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome		DOVES_relaxed.owl
MONDO:0044876	biolink:NamedThing	drug hypersensitivity syndrome	A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs.	DOVES_relaxed.owl
MONDO:0054573	biolink:NamedThing	Lopes-Maciel-Rodan syndrome		DOVES_relaxed.owl
MONDO:0054591	biolink:NamedThing	Stankiewicz-Isidor syndrome	A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems.	DOVES_relaxed.owl
MONDO:0100069	biolink:NamedThing	hearing impairment and infertile male syndrome	A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology.	DOVES_relaxed.owl
MONDO:0100071	biolink:NamedThing	cardiocutaneous syndrome	Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation.	DOVES_relaxed.owl
MONDO:0100072	biolink:NamedThing	neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts	Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients.	DOVES_relaxed.owl
MONDO:0100080	biolink:NamedThing	cardioectodermal syndrome	Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation.	DOVES_relaxed.owl
MONDO:0100094	biolink:NamedThing	cannabinoid hyperemesis syndrome	A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment.	DOVES_relaxed.owl
MONDO:0100099	biolink:NamedThing	retrograde cricopharyngeus dysfunction	A syndrome characterized by the inability to belch, abdominal bloating and discomfort/nausea, or chest pain, especially after eating, socially awkward gurgling noises from the chest and lower neck as though the esophagus is churning and straining to eject the air, excessive flatulence, social inhibition, and difficulty vomiting (common but not universal). Botulinum toxin (BT) injection into the cricopharyngeus muscle (CPM) is done for both diagnosis and treatment of R-CPD.	DOVES_relaxed.owl
MONDO:0100109	biolink:NamedThing	Zinner syndrome	A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction.	DOVES_relaxed.owl
MONDO:0100155	biolink:NamedThing	retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome	An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene, encoding the patatin like phospholipase domain containing 6 protein. RAPH syndrome is characterized by hypogonadism, cerebellar ataxia, retinal dystrophy, peripheral neuropathy, growth hormone deficiency, and cognitive impairment. Additional clinical features may include lower limb spasticity, trichomegaly, alopecia, and facial dismorphism. The term lumps Boucher-Neuhauser, Gordon Holmes, Laurence-Moon, and Oliver-McFarlene syndromes.	DOVES_relaxed.owl
MONDO:0100347	biolink:NamedThing	carcinoid syndrome		DOVES_relaxed.owl
MONDO:0100492	biolink:NamedThing	Bonnevie-Ullrich syndrome	A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy.	DOVES_relaxed.owl
MONDO:0700048	biolink:NamedThing	hand-foot syndrome	A condition characterized by redness, pain, swelling, and tingling in the palms of the hands or the soles of the feet. It may appear as a side effect to chemotherapy agents.	DOVES_relaxed.owl
MONDO:0800195	biolink:NamedThing	achalasia-alacrima syndrome		DOVES_relaxed.owl
MONDO:0800199	biolink:NamedThing	Angelman syndrome chromosome region		DOVES_relaxed.owl
MONDO:0800294	biolink:NamedThing	progressive encephalomyelitis with rigidity		DOVES_relaxed.owl
MONDO:0800300	biolink:NamedThing	black locks with albinism and deafness syndrome		DOVES_relaxed.owl
MONDO:0800316	biolink:NamedThing	contiguous ABCD1/DXS1375E deletion syndrome		DOVES_relaxed.owl
MONDO:0850009	biolink:NamedThing	syndromic microspherophakia		DOVES_relaxed.owl
MONDO:0850049	biolink:NamedThing	painful legs and moving toes syndrome		DOVES_relaxed.owl
MONDO:0850050	biolink:NamedThing	congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome		DOVES_relaxed.owl
MONDO:0850059	biolink:NamedThing	hereditary persistence of fetal hemoglobin-intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0850071	biolink:NamedThing	developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome		DOVES_relaxed.owl
MONDO:0850087	biolink:NamedThing	primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome		DOVES_relaxed.owl
MONDO:0850090	biolink:NamedThing	fibrosis-neurodegeneration-cerebral angiomatosis syndrome		DOVES_relaxed.owl
MONDO:0850115	biolink:NamedThing	early-onset obesity-hyperphagia-severe developmental delay syndrome		DOVES_relaxed.owl
MONDO:0010684	biolink:NamedThing	X-linked myopathy with excessive autophagy	X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.	DOVES_relaxed.owl
MONDO:0011362	biolink:NamedThing	myopathy, myofibrillar, 9, with early respiratory failure		DOVES_relaxed.owl
MONDO:0017931	biolink:NamedThing	hereditary inclusion body myopathy type 4	Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.	DOVES_relaxed.owl
MONDO:0018206	biolink:NamedThing	childhood-onset autosomal recessive myopathy with external ophthalmoplegia		DOVES_relaxed.owl
MONDO:0019195	biolink:NamedThing	hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.	DOVES_relaxed.owl
MONDO:0019398	biolink:NamedThing	desmin-related myopathy with Mallory body-like inclusions		DOVES_relaxed.owl
MONDO:0008243	biolink:NamedThing	Pick disease	A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.	DOVES_relaxed.owl
MONDO:0011842	biolink:NamedThing	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.	DOVES_relaxed.owl
MONDO:0001071	biolink:NamedThing	intellectual disability	A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.	DOVES_relaxed.owl
MONDO:0000509	biolink:NamedThing	non-syndromic intellectual disability	An intellectual disability that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0100166	biolink:NamedThing	PPP2R1A-related intellectual disability	Any intellectual disability in which the cause of the disease is a mutation in the PPP2R1A gene.	DOVES_relaxed.owl
MONDO:0100284	biolink:NamedThing	X-linked intellectual disability	An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations.	DOVES_relaxed.owl
MONDO:0000510	biolink:NamedThing	synucleinopathy	A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]	DOVES_relaxed.owl
MONDO:0005559	biolink:NamedThing	neurodegenerative disease	A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function.	DOVES_relaxed.owl
MONDO:0001987	biolink:NamedThing	senile degeneration of brain		DOVES_relaxed.owl
MONDO:0002017	biolink:NamedThing	olivopontocerebellar atrophy	A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives.	DOVES_relaxed.owl
MONDO:0002283	biolink:NamedThing	neuroaxonal dystrophy	A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)	DOVES_relaxed.owl
MONDO:0004884	biolink:NamedThing	eye degenerative disorder	A neurodegenerative disease that involves the eye.	DOVES_relaxed.owl
MONDO:0005574	biolink:NamedThing	tauopathy	Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration.	DOVES_relaxed.owl
MONDO:0006966	biolink:NamedThing	secondary Parkinson disease	A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication.	DOVES_relaxed.owl
MONDO:0007104	biolink:NamedThing	amyotrophic lateral sclerosis-parkinsonism-dementia complex		DOVES_relaxed.owl
MONDO:0015518	biolink:NamedThing	infantile bilateral striatal necrosis	Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.	DOVES_relaxed.owl
MONDO:0016370	biolink:NamedThing	Marchiafava-Bignami disease	Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism.	DOVES_relaxed.owl
MONDO:0016594	biolink:NamedThing	superficial siderosis	Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.	DOVES_relaxed.owl
MONDO:0017803	biolink:NamedThing	primary progressive apraxia of speech		DOVES_relaxed.owl
MONDO:0018926	biolink:NamedThing	human prion disease	Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).	DOVES_relaxed.owl
MONDO:0019160	biolink:NamedThing	primary progressive freezing gait	Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.	DOVES_relaxed.owl
MONDO:0019806	biolink:NamedThing	primary progressive aphasia	Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA).	DOVES_relaxed.owl
MONDO:0020708	biolink:NamedThing	brachial amyotrophic diplegia	A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction.	DOVES_relaxed.owl
MONDO:0019065	biolink:NamedThing	amyloidosis	A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands.	DOVES_relaxed.owl
MONDO:0700038	biolink:NamedThing	TDP-43 proteinopathy	Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease.	DOVES_relaxed.owl
MONDO:0000513	biolink:NamedThing	bone ameloblastoma	A ameloblastoma that involves the bone tissue.	DOVES_relaxed.owl
MONDO:0000631	biolink:NamedThing	bone benign neoplasm	A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites.	DOVES_relaxed.owl
MONDO:0000516	biolink:NamedThing	phalanx chondroma	A chondroma that involves the phalanx.	DOVES_relaxed.owl
MONDO:0002119	biolink:NamedThing	ossifying fibroma	A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated.	DOVES_relaxed.owl
MONDO:0002359	biolink:NamedThing	periosteal chondroma	A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification.	DOVES_relaxed.owl
MONDO:0004997	biolink:NamedThing	chondroblastoma	A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes.	DOVES_relaxed.owl
MONDO:0005166	biolink:NamedThing	osteoma	A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course.	DOVES_relaxed.owl
MONDO:0006353	biolink:NamedThing	paranasal sinus Schneiderian papilloma	A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma.	DOVES_relaxed.owl
MONDO:0007414	biolink:NamedThing	Gorham-Stout disease	Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.	DOVES_relaxed.owl
MONDO:0009808	biolink:NamedThing	osteoid osteoma	A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare.	DOVES_relaxed.owl
MONDO:0010621	biolink:NamedThing	CHILD syndrome	CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.	DOVES_relaxed.owl
MONDO:0011744	biolink:NamedThing	primary intraosseous venous malformation	Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.	DOVES_relaxed.owl
MONDO:0018447	biolink:NamedThing	chondromyxoid fibroma	An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain.	DOVES_relaxed.owl
MONDO:0018936	biolink:NamedThing	osteoblastoma	A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent.	DOVES_relaxed.owl
MONDO:0021439	biolink:NamedThing	benign neoplasm of pituitary gland	A benign neoplasm that involves the pituitary gland.	DOVES_relaxed.owl
MONDO:0021477	biolink:NamedThing	benign neoplasm of sphenoidal sinus	A non-metastasizing neoplasm that arises from the sphenoid sinus.	DOVES_relaxed.owl
MONDO:0021483	biolink:NamedThing	benign neoplasm of frontal sinus	A benign neoplasm that involves the frontal sinus.	DOVES_relaxed.owl
MONDO:0021484	biolink:NamedThing	benign neoplasm of maxillary sinus	A benign neoplasm that involves the maxillary sinus.	DOVES_relaxed.owl
MONDO:0021515	biolink:NamedThing	benign neoplasm of ethmoidal sinus	A benign neoplasm that involves the ethmoid sinus.	DOVES_relaxed.owl
MONDO:0021522	biolink:NamedThing	benign neoplasm of lower jaw bone	A benign neoplasm that involves the bone of lower jaw.	DOVES_relaxed.owl
MONDO:0024686	biolink:NamedThing	tenosynovial giant cell tumor, diffuse type	A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion.	DOVES_relaxed.owl
MONDO:0017795	biolink:NamedThing	ameloblastoma	The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize.	DOVES_relaxed.owl
MONDO:0006179	biolink:NamedThing	desmoplastic ameloblastoma	An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands.	DOVES_relaxed.owl
MONDO:0006381	biolink:NamedThing	plexiform ameloblastoma	A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma.	DOVES_relaxed.owl
MONDO:0005096	biolink:NamedThing	squamous cell carcinoma	A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma.	DOVES_relaxed.owl
MONDO:0000993	biolink:NamedThing	prostate squamous cell carcinoma	An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation.	DOVES_relaxed.owl
MONDO:0001419	biolink:NamedThing	trachea squamous cell carcinoma	A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor.	DOVES_relaxed.owl
MONDO:0001651	biolink:NamedThing	scrotum squamous cell carcinoma	A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement.	DOVES_relaxed.owl
MONDO:0002529	biolink:NamedThing	skin squamous cell carcinoma	A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated.	DOVES_relaxed.owl
MONDO:0002760	biolink:NamedThing	bladder squamous cell carcinoma	A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming.	DOVES_relaxed.owl
MONDO:0002764	biolink:NamedThing	urethra squamous cell carcinoma	A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra.	DOVES_relaxed.owl
MONDO:0002979	biolink:NamedThing	papillary squamous carcinoma	A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva.	DOVES_relaxed.owl
MONDO:0003486	biolink:NamedThing	basaloid squamous cell carcinoma	A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading.	DOVES_relaxed.owl
MONDO:0003487	biolink:NamedThing	pseudoglandular squamous cell carcinoma	A squamous cell carcinoma characterized by the formation of gland-like structures.	DOVES_relaxed.owl
MONDO:0003493	biolink:NamedThing	thymus squamous cell carcinoma	A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation.	DOVES_relaxed.owl
MONDO:0003494	biolink:NamedThing	ovarian squamous cell carcinoma	A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor.	DOVES_relaxed.owl
MONDO:0003497	biolink:NamedThing	renal pelvis squamous cell carcinoma	A squamous cell carcinoma that involves the renal pelvis.	DOVES_relaxed.owl
MONDO:0003502	biolink:NamedThing	ureter squamous cell carcinoma	A rare squamous cell carcinoma that arises from the ureter.	DOVES_relaxed.owl
MONDO:0003503	biolink:NamedThing	fallopian tube squamous cell carcinoma	A rare squamous cell carcinoma that arises from the fallopian tube.	DOVES_relaxed.owl
MONDO:0005056	biolink:NamedThing	keratinizing squamous cell carcinoma	Squamous cell carcinomas with morphologically prominent production of keratin.	DOVES_relaxed.owl
MONDO:0005097	biolink:NamedThing	squamous cell lung carcinoma	A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.	DOVES_relaxed.owl
MONDO:0005580	biolink:NamedThing	esophageal squamous cell carcinoma	Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third.	DOVES_relaxed.owl
MONDO:0006056	biolink:NamedThing	squamous cell breast carcinoma	A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells.	DOVES_relaxed.owl
MONDO:0006074	biolink:NamedThing	adenosquamous carcinoma	A carcinoma composed of malignant glandular cells and malignant squamous cells.	DOVES_relaxed.owl
MONDO:0006143	biolink:NamedThing	cervical squamous cell carcinoma	A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis.	DOVES_relaxed.owl
MONDO:0006165	biolink:NamedThing	colorectal squamous cell carcinoma	A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.	DOVES_relaxed.owl
MONDO:0006198	biolink:NamedThing	endometrial squamous cell carcinoma	A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells.	DOVES_relaxed.owl
MONDO:0006230	biolink:NamedThing	gastric squamous cell carcinoma	A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body.	DOVES_relaxed.owl
MONDO:0006467	biolink:NamedThing	thyroid gland squamous cell carcinoma	A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive.	DOVES_relaxed.owl
MONDO:0006490	biolink:NamedThing	vaginal squamous cell carcinoma	A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease.	DOVES_relaxed.owl
MONDO:0010150	biolink:NamedThing	head and neck squamous cell carcinoma	A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.	DOVES_relaxed.owl
MONDO:0016266	biolink:NamedThing	squamous cell carcinoma of the corpus uteri	A squamous cell carcinoma that involves the body of uterus.	DOVES_relaxed.owl
MONDO:0018352	biolink:NamedThing	squamous cell carcinoma of penis	A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004)	DOVES_relaxed.owl
MONDO:0018509	biolink:NamedThing	squamous cell carcinoma of the small intestine	A carcinoma that arises from the small intestine. It is composed of malignant squamous cells.	DOVES_relaxed.owl
MONDO:0018521	biolink:NamedThing	squamous cell carcinoma of pancreas	A squamous cell carcinoma that involves the pancreas.	DOVES_relaxed.owl
MONDO:0018534	biolink:NamedThing	squamous cell carcinoma of liver and intrahepatic biliary tract	Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia.	DOVES_relaxed.owl
MONDO:0018537	biolink:NamedThing	squamous cell carcinoma of gallbladder and extrahepatic biliary tract	Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.	DOVES_relaxed.owl
MONDO:0020657	biolink:NamedThing	human papillomavirus-related squamous cell carcinoma		DOVES_relaxed.owl
MONDO:0021663	biolink:NamedThing	sarcomatoid squamous cell carcinoma	A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features.	DOVES_relaxed.owl
MONDO:0024609	biolink:NamedThing	vulvar squamous cell carcinoma	An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)	DOVES_relaxed.owl
MONDO:0044907	biolink:NamedThing	metastatic squamous cell carcinoma	A squamous cell carcinoma which has spread from its original site of growth to another anatomic site.	DOVES_relaxed.owl
MONDO:0000515	biolink:NamedThing	bone chondrosarcoma	A chondrosarcoma (disease) that involves the bone tissue.	DOVES_relaxed.owl
MONDO:0002129	biolink:NamedThing	bone cancer	A primary or metastatic malignant neoplasm affecting the bone or articular cartilage.	DOVES_relaxed.owl
MONDO:0000639	biolink:NamedThing	cartilage cancer	A cancer involving a cartilage tissue.	DOVES_relaxed.owl
MONDO:0000953	biolink:NamedThing	cancer of short bone of lower limb		DOVES_relaxed.owl
MONDO:0001691	biolink:NamedThing	laryngeal cartilage cancer	A malignant neoplasm involving the laryngeal cartilage.	DOVES_relaxed.owl
MONDO:0002132	biolink:NamedThing	skull cancer	A malignant neoplasm involving the skull.	DOVES_relaxed.owl
MONDO:0002630	biolink:NamedThing	small cell osteogenic sarcoma	An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable.	DOVES_relaxed.owl
MONDO:0002981	biolink:NamedThing	peripheral primitive neuroectodermal tumor of bone	A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain.	DOVES_relaxed.owl
MONDO:0003273	biolink:NamedThing	sternum cancer	A malignant neoplasm involving the sternum	DOVES_relaxed.owl
MONDO:0003933	biolink:NamedThing	chest wall bone cancer	An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor.	DOVES_relaxed.owl
MONDO:0004374	biolink:NamedThing	adult extraskeletal osteosarcoma	An osteosarcoma arising from the soft tissue, and occurring in adults.	DOVES_relaxed.owl
MONDO:0005507	biolink:NamedThing	gingival cancer	A primary or metastatic malignant neoplasm that affects the gums.	DOVES_relaxed.owl
MONDO:0017814	biolink:NamedThing	primary bone lymphoma	A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease.	DOVES_relaxed.owl
MONDO:0021054	biolink:NamedThing	bone sarcoma	A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma.	DOVES_relaxed.owl
MONDO:0021138	biolink:NamedThing	bone marrow cancer	Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003	DOVES_relaxed.owl
MONDO:0024311	biolink:NamedThing	cancer affecting bone of limb skeleton	A cancer that involves the limb bone.	DOVES_relaxed.owl
MONDO:0008977	biolink:NamedThing	chondrosarcoma	A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.	DOVES_relaxed.owl
MONDO:0003681	biolink:NamedThing	myxoid chondrosarcoma	A chondrosarcoma characterized by the presence of myxoid changes.	DOVES_relaxed.owl
MONDO:0003682	biolink:NamedThing	localized chondrosarcoma	A non-disseminated skeletal or extraskeletal chondrosarcoma.	DOVES_relaxed.owl
MONDO:0006853	biolink:NamedThing	mesenchymal chondrosarcoma	A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases.	DOVES_relaxed.owl
MONDO:0006423	biolink:NamedThing	soft tissue chondroma	A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.	DOVES_relaxed.owl
MONDO:0000517	biolink:NamedThing	brain stem medulloblastoma	A medulloblastoma that involves the brainstem.	DOVES_relaxed.owl
MONDO:0007959	biolink:NamedThing	medulloblastoma	A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.	DOVES_relaxed.owl
MONDO:0002791	biolink:NamedThing	large cell medulloblastoma	A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma.	DOVES_relaxed.owl
MONDO:0002792	biolink:NamedThing	cerebellar vermis medulloblastoma	A medulloblastoma arising from the vermis of the cerebellum.	DOVES_relaxed.owl
MONDO:0002794	biolink:NamedThing	adult medulloblastoma	A medulloblastoma arising from the brain, occurring in adults.	DOVES_relaxed.owl
MONDO:0002796	biolink:NamedThing	melanotic medulloblastoma	A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course.	DOVES_relaxed.owl
MONDO:0002797	biolink:NamedThing	childhood medulloblastoma	A medulloblastoma occurring in children.	DOVES_relaxed.owl
MONDO:0002799	biolink:NamedThing	nodular medulloblastoma	A medulloblastoma characterized by nodularity and neuronal differentiation.	DOVES_relaxed.owl
MONDO:0006300	biolink:NamedThing	medullomyoblastoma with myogenic differentiation	A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma.	DOVES_relaxed.owl
MONDO:0016709	biolink:NamedThing	anaplastic/large cell medulloblastoma	A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity.	DOVES_relaxed.owl
MONDO:0016710	biolink:NamedThing	medulloblastoma with extensive nodularity	Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.	DOVES_relaxed.owl
MONDO:0016711	biolink:NamedThing	desmoplastic/nodular medulloblastoma	A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.	DOVES_relaxed.owl
MONDO:0016712	biolink:NamedThing	classic medulloblastoma	Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.	DOVES_relaxed.owl
MONDO:0021228	biolink:NamedThing	brainstem neoplasm	A neoplasm (disease) that involves the brainstem.	DOVES_relaxed.owl
MONDO:0002912	biolink:NamedThing	brainstem cancer	A primary or metastatic malignant neoplasm that affects the brain stem.	DOVES_relaxed.owl
MONDO:0021507	biolink:NamedThing	benign neoplasm of brain stem	A benign neoplasm that involves the brainstem.	DOVES_relaxed.owl
MONDO:0024797	biolink:NamedThing	adult brain stem neoplasm	A brainstem neoplasm that occurs in an adult.	DOVES_relaxed.owl
MONDO:0002894	biolink:NamedThing	spinal chordoma	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.	DOVES_relaxed.owl
MONDO:0000519	biolink:NamedThing	corpus callosum oligodendroglioma	A oligodendroglioma that involves the corpus callosum.	DOVES_relaxed.owl
MONDO:0002544	biolink:NamedThing	brain oligodendroglioma	A oligodendroglioma that involves the brain.	DOVES_relaxed.owl
MONDO:0002731	biolink:NamedThing	cerebral hemisphere cancer	A cancer that involves the cerebral hemisphere.	DOVES_relaxed.owl
MONDO:0001952	biolink:NamedThing	parietal lobe cancer	A malignant neoplasm involving the parietal lobe	DOVES_relaxed.owl
MONDO:0002218	biolink:NamedThing	temporal lobe cancer	A cancer that involves the temporal lobe.	DOVES_relaxed.owl
MONDO:0002900	biolink:NamedThing	cerebral neuroblastoma	A neuroblastoma arising from the cerebral hemispheres.	DOVES_relaxed.owl
MONDO:0003655	biolink:NamedThing	cerebral lymphoma	A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion.	DOVES_relaxed.owl
MONDO:0003772	biolink:NamedThing	cerebral meningioma	A meningioma that affects the cerebral hemispheres.	DOVES_relaxed.owl
MONDO:0004071	biolink:NamedThing	childhood cerebral astrocytoma	An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children.	DOVES_relaxed.owl
MONDO:0004209	biolink:NamedThing	cerebral primitive neuroectodermal tumor	A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres.	DOVES_relaxed.owl
MONDO:0004378	biolink:NamedThing	pediatric cerebral ependymoblastoma	An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children.	DOVES_relaxed.owl
MONDO:0021131	biolink:NamedThing	frontal lobe ependymal tumor	An ependymal tumor affecting the frontal lobe of the brain.	DOVES_relaxed.owl
MONDO:0000520	biolink:NamedThing	parietal lobe ependymal tumor	An ependymal tumor affecting the parietal lobe of the brain.	DOVES_relaxed.owl
MONDO:0004245	biolink:NamedThing	ependymal tumor of brain	A tumor arising from the ependymal lining of the ventricles.	DOVES_relaxed.owl
MONDO:0003477	biolink:NamedThing	brain stem ependymoma	An ependymoma that arises from the brain stem.	DOVES_relaxed.owl
MONDO:0004352	biolink:NamedThing	adult brain ependymoma	An ependymoma of the brain occurring in adults.	DOVES_relaxed.owl
MONDO:0020685	biolink:NamedThing	infratentorial ependymal tumor	An ependymal tumor arising from the infratentorial region of the brain.	DOVES_relaxed.owl
MONDO:0020687	biolink:NamedThing	supratentorial ependymal tumor	An ependymal tumor arising from the supratentorial region of the brain.	DOVES_relaxed.owl
MONDO:0004669	biolink:NamedThing	salivary gland cancer	A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.	DOVES_relaxed.owl
MONDO:0021316	biolink:NamedThing	malignant tumor of minor salivary gland	A cancer that involves the minor salivary gland.	DOVES_relaxed.owl
MONDO:0044743	biolink:NamedThing	major salivary gland cancer	A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.	DOVES_relaxed.owl
MONDO:0000524	biolink:NamedThing	mixed extragonadal germ cell cancer	A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle.	DOVES_relaxed.owl
MONDO:0003113	biolink:NamedThing	extragonadal germ cell cancer	A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.	DOVES_relaxed.owl
MONDO:0001991	biolink:NamedThing	malignant cardiac germ cell tumor	A rare malignant germ cell tumor that arises from the pericardium.	DOVES_relaxed.owl
MONDO:0002073	biolink:NamedThing	malignant pineal area germ cell neoplasm	A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor.	DOVES_relaxed.owl
MONDO:0003112	biolink:NamedThing	malignant gastric germ cell tumor	A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma.	DOVES_relaxed.owl
MONDO:0003578	biolink:NamedThing	extragonadal nonseminomatous germ cell tumor	A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.	DOVES_relaxed.owl
MONDO:0003668	biolink:NamedThing	extragonadal seminoma		DOVES_relaxed.owl
MONDO:0006298	biolink:NamedThing	mediastinal malignant germ cell tumor	An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma.	DOVES_relaxed.owl
MONDO:0015935	biolink:NamedThing	extragonadal germinoma		DOVES_relaxed.owl
MONDO:0040673	biolink:NamedThing	malignant peritoneal germ cell tumor	A malignant germ cell tumor that affects the peritoneum.	DOVES_relaxed.owl
MONDO:0015864	biolink:NamedThing	mixed germ cell tumor	A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum.	DOVES_relaxed.owl
MONDO:0002599	biolink:NamedThing	teratocarcinoma	A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component.	DOVES_relaxed.owl
MONDO:0003120	biolink:NamedThing	mixed testicular germ cell cancer	A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma.	DOVES_relaxed.owl
MONDO:0003710	biolink:NamedThing	ovarian mixed germ cell neoplasm	An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor.	DOVES_relaxed.owl
MONDO:0020651	biolink:NamedThing	mixed germ cell tumor of vulva		DOVES_relaxed.owl
MONDO:0024861	biolink:NamedThing	mixed teratoma and seminoma		DOVES_relaxed.owl
MONDO:0000525	biolink:NamedThing	cecum villous adenoma	A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.	DOVES_relaxed.owl
MONDO:0005694	biolink:NamedThing	cecal neoplasm	A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	DOVES_relaxed.owl
MONDO:0001236	biolink:NamedThing	appendiceal neoplasm	A benign or malignant neoplasm involving the appendix.	DOVES_relaxed.owl
MONDO:0002033	biolink:NamedThing	cecum cancer	A malignant neoplasm involving the caecum	DOVES_relaxed.owl
MONDO:0006126	biolink:NamedThing	cecum neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	DOVES_relaxed.owl
MONDO:0021464	biolink:NamedThing	benign neoplasm of cecum	A benign neoplasm that involves the caecum.	DOVES_relaxed.owl
MONDO:0021271	biolink:NamedThing	villous adenoma of colon	A villous adenoma that involves the colon.	DOVES_relaxed.owl
MONDO:0000527	biolink:NamedThing	colon adenoma	An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.	DOVES_relaxed.owl
MONDO:0005484	biolink:NamedThing	colorectal adenoma	An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.	DOVES_relaxed.owl
MONDO:0000530	biolink:NamedThing	rectum adenoma	An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.	DOVES_relaxed.owl
MONDO:0006164	biolink:NamedThing	colorectal sessile serrated adenoma/polyp	A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability.	DOVES_relaxed.owl
MONDO:0024662	biolink:NamedThing	colorectal tubulovillous adenoma	A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.	DOVES_relaxed.owl
MONDO:0024479	biolink:NamedThing	epithelial tumor of colon	A epithelial neoplasm that involves the colon.	DOVES_relaxed.owl
MONDO:0001093	biolink:NamedThing	colonic lymphangioma	A lymphangioma arising from the colon.	DOVES_relaxed.owl
MONDO:0002032	biolink:NamedThing	colon carcinoma	A carcinoma that arises from epithelial cells of the colon	DOVES_relaxed.owl
MONDO:0003644	biolink:NamedThing	cavernous hemangioma of colon	A cavernous hemangioma arising from the colon.	DOVES_relaxed.owl
MONDO:0015067	biolink:NamedThing	neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon.	DOVES_relaxed.owl
MONDO:0018511	biolink:NamedThing	epithelial tumor of the appendix	A epithelial neoplasm that involves the vermiform appendix.	DOVES_relaxed.owl
MONDO:0024476	biolink:NamedThing	epithelial neoplasm of rectum	A epithelial neoplasm that involves the rectum.	DOVES_relaxed.owl
MONDO:0003646	biolink:NamedThing	rectum neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	DOVES_relaxed.owl
MONDO:0022985	biolink:NamedThing	diffuse cavernous hemangioma of the rectum		DOVES_relaxed.owl
MONDO:0044937	biolink:NamedThing	rectal carcinoma	A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.	DOVES_relaxed.owl
MONDO:0005616	biolink:NamedThing	pulmonary mucoepidermoid carcinoma	A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells.	DOVES_relaxed.owl
MONDO:0003438	biolink:NamedThing	combined small cell lung carcinoma	A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma.	DOVES_relaxed.owl
MONDO:0001017	biolink:NamedThing	epididymal adenocarcinoma	A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain.	DOVES_relaxed.owl
MONDO:0002418	biolink:NamedThing	ethmoid sinus adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the epithelial cell	DOVES_relaxed.owl
MONDO:0002475	biolink:NamedThing	lacrimal gland adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the lacrimal gland	DOVES_relaxed.owl
MONDO:0002512	biolink:NamedThing	papillary adenocarcinoma	A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma.	DOVES_relaxed.owl
MONDO:0002746	biolink:NamedThing	fallopian tube adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the fallopian tube	DOVES_relaxed.owl
MONDO:0002751	biolink:NamedThing	bladder adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the urinary bladder	DOVES_relaxed.owl
MONDO:0002752	biolink:NamedThing	ovarian adenocarcinoma	An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma.	DOVES_relaxed.owl
MONDO:0002822	biolink:NamedThing	trabecular adenocarcinoma	A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern.	DOVES_relaxed.owl
MONDO:0003189	biolink:NamedThing	middle ear adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the middle ear	DOVES_relaxed.owl
MONDO:0003197	biolink:NamedThing	granular cell carcinoma	An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm.	DOVES_relaxed.owl
MONDO:0003198	biolink:NamedThing	small intestine adenocarcinoma	An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.	DOVES_relaxed.owl
MONDO:0003200	biolink:NamedThing	urethra adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the urethra	DOVES_relaxed.owl
MONDO:0003204	biolink:NamedThing	villous adenocarcinoma	An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma.	DOVES_relaxed.owl
MONDO:0003209	biolink:NamedThing	thymus gland adenocarcinoma	A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation.	DOVES_relaxed.owl
MONDO:0003211	biolink:NamedThing	nasal cavity adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the nasal cavity	DOVES_relaxed.owl
MONDO:0003216	biolink:NamedThing	ureter adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the ureter	DOVES_relaxed.owl
MONDO:0003219	biolink:NamedThing	gastroesophageal junction adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the esophagogastric junction.	DOVES_relaxed.owl
MONDO:0004328	biolink:NamedThing	maxillary sinus adenocarcinoma	An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs.	DOVES_relaxed.owl
MONDO:0004957	biolink:NamedThing	mucinous adenocarcinoma	An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland.	DOVES_relaxed.owl
MONDO:0004965	biolink:NamedThing	acinar cell carcinoma	A carcinoma that arises from epithelial cells of the acinar cell	DOVES_relaxed.owl
MONDO:0004971	biolink:NamedThing	adenoid cystic carcinoma	A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic.	DOVES_relaxed.owl
MONDO:0004988	biolink:NamedThing	breast adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the breast	DOVES_relaxed.owl
MONDO:0005004	biolink:NamedThing	clear cell adenocarcinoma	A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid.	DOVES_relaxed.owl
MONDO:0005008	biolink:NamedThing	colorectal adenocarcinoma	The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.	DOVES_relaxed.owl
MONDO:0005026	biolink:NamedThing	endometrioid adenocarcinoma	An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament.	DOVES_relaxed.owl
MONDO:0005028	biolink:NamedThing	esophageal adenocarcinoma	A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor.	DOVES_relaxed.owl
MONDO:0005036	biolink:NamedThing	gastric adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the stomach	DOVES_relaxed.owl
MONDO:0005082	biolink:NamedThing	prostate adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the prostate gland	DOVES_relaxed.owl
MONDO:0005086	biolink:NamedThing	renal cell carcinoma	A carcinoma that arises from glandular epithelial cells of the kidney	DOVES_relaxed.owl
MONDO:0005092	biolink:NamedThing	signet ring cell carcinoma	A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland.	DOVES_relaxed.owl
MONDO:0005153	biolink:NamedThing	cervical adenocarcinoma	An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type.	DOVES_relaxed.owl
MONDO:0005278	biolink:NamedThing	serous adenocarcinoma	An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma.	DOVES_relaxed.owl
MONDO:0005461	biolink:NamedThing	endometrium adenocarcinoma	An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma.	DOVES_relaxed.owl
MONDO:0005524	biolink:NamedThing	sweat gland carcinoma	A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma.	DOVES_relaxed.owl
MONDO:0005596	biolink:NamedThing	cystadenocarcinoma	A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas.	DOVES_relaxed.owl
MONDO:0005606	biolink:NamedThing	tubular adenocarcinoma	An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma.	DOVES_relaxed.owl
MONDO:0005613	biolink:NamedThing	mesonephric adenocarcinoma	An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants.	DOVES_relaxed.owl
MONDO:0005953	biolink:NamedThing	scirrhous adenocarcinoma	An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction.	DOVES_relaxed.owl
MONDO:0006047	biolink:NamedThing	pancreatic adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the pancreas	DOVES_relaxed.owl
MONDO:0006214	biolink:NamedThing	follicular variant thyroid gland papillary carcinoma	A nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland.	DOVES_relaxed.owl
MONDO:0006254	biolink:NamedThing	intestinal type adenocarcinoma	An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas.	DOVES_relaxed.owl
MONDO:0006302	biolink:NamedThing	micropapillary serous carcinoma	An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio.	DOVES_relaxed.owl
MONDO:0006304	biolink:NamedThing	minor salivary gland adenocarcinoma	An adenocarcinoma that arises from the minor salivary glands.	DOVES_relaxed.owl
MONDO:0006382	biolink:NamedThing	poorly differentiated thyroid gland carcinoma	An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)	DOVES_relaxed.owl
MONDO:0006402	biolink:NamedThing	salivary gland basal cell adenocarcinoma	A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients.	DOVES_relaxed.owl
MONDO:0006435	biolink:NamedThing	submandibular gland adenocarcinoma	An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma.	DOVES_relaxed.owl
MONDO:0006465	biolink:NamedThing	thyroid gland oncocytic follicular carcinoma	A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent.	DOVES_relaxed.owl
MONDO:0006962	biolink:NamedThing	sebaceous adenocarcinoma	An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize.	DOVES_relaxed.owl
MONDO:0012004	biolink:NamedThing	parathyroid gland carcinoma	A very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.	DOVES_relaxed.owl
MONDO:0018351	biolink:NamedThing	adenocarcinoma of penis	A adenocarcinoma that involves the penis.	DOVES_relaxed.owl
MONDO:0018532	biolink:NamedThing	adenocarcinoma of liver and intrahepatic biliary tract		DOVES_relaxed.owl
MONDO:0018536	biolink:NamedThing	adenocarcinoma of gallbladder and extrahepatic biliary tract	Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.	DOVES_relaxed.owl
MONDO:0020653	biolink:NamedThing	vaginal adenocarcinoma	An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma.	DOVES_relaxed.owl
MONDO:0021165	biolink:NamedThing	Paget disease	A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum.	DOVES_relaxed.owl
MONDO:0021652	biolink:NamedThing	diffuse type adenocarcinoma	An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma.	DOVES_relaxed.owl
MONDO:0024336	biolink:NamedThing	vulvar adenocarcinoma	An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma.	DOVES_relaxed.owl
MONDO:0024622	biolink:NamedThing	thyroid gland adenocarcinoma	An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation).	DOVES_relaxed.owl
MONDO:0000534	biolink:NamedThing	trachea mucoepidermoid carcinoma	A mucoepidermoid carcinoma that involves the trachea.	DOVES_relaxed.owl
MONDO:0003036	biolink:NamedThing	mucoepidermoid carcinoma	A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade.	DOVES_relaxed.owl
MONDO:0003086	biolink:NamedThing	thymic mucoepidermoid carcinoma	A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports.	DOVES_relaxed.owl
MONDO:0003087	biolink:NamedThing	mucoepidermoid breast carcinoma	A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare.	DOVES_relaxed.owl
MONDO:0003089	biolink:NamedThing	extrahepatic bile duct mucoepidermoid carcinoma	A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts.	DOVES_relaxed.owl
MONDO:0003091	biolink:NamedThing	cutaneous mucoepidermoid carcinoma	A mucoepidermoid carcinoma that involves the zone of skin.	DOVES_relaxed.owl
MONDO:0003092	biolink:NamedThing	lacrimal gland mucoepidermoid carcinoma	An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells.	DOVES_relaxed.owl
MONDO:0003093	biolink:NamedThing	mucoepidermoid esophageal carcinoma	A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO)	DOVES_relaxed.owl
MONDO:0003095	biolink:NamedThing	laryngeal mucoepidermoid carcinoma	A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms.	DOVES_relaxed.owl
MONDO:0006463	biolink:NamedThing	thyroid gland mucoepidermoid carcinoma	A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent.	DOVES_relaxed.owl
MONDO:0044956	biolink:NamedThing	paranasal sinus mucoepidermoid carcinoma	A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type.	DOVES_relaxed.owl
MONDO:0003184	biolink:NamedThing	trachea carcinoma	A carcinoma that arises from epithelial cells of the trachea.	DOVES_relaxed.owl
MONDO:0006471	biolink:NamedThing	tracheal adenoid cystic carcinoma	An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes.	DOVES_relaxed.owl
MONDO:0000535	biolink:NamedThing	tonsil squamous cell carcinoma	A squamous cell carcinoma that involves the tonsil.	DOVES_relaxed.owl
MONDO:0021337	biolink:NamedThing	tonsil carcinoma	A carcinoma that involves the tonsil.	DOVES_relaxed.owl
MONDO:0044704	biolink:NamedThing	oropharynx squamous cell carcinoma	A squamous cell carcinoma that involves the oropharynx.	DOVES_relaxed.owl
MONDO:0004608	biolink:NamedThing	oropharynx cancer	A primary or metastatic malignant neoplasm that affects the oropharynx.	DOVES_relaxed.owl
MONDO:0005806	biolink:NamedThing	hypopharynx cancer	A primary or metastatic malignant neoplasm that affects the hypopharynx.	DOVES_relaxed.owl
MONDO:0021315	biolink:NamedThing	malignant tumor of nasopharynx	A cancer that involves the nasopharynx.	DOVES_relaxed.owl
MONDO:0001740	biolink:NamedThing	cornea squamous cell carcinoma	A rare squamous cell carcinoma that arises from the cornea.	DOVES_relaxed.owl
MONDO:0003492	biolink:NamedThing	lacrimal gland squamous cell carcinoma	A squamous cell carcinoma that involves the lacrimal gland.	DOVES_relaxed.owl
MONDO:0003501	biolink:NamedThing	external ear squamous cell carcinoma	A squamous cell carcinoma that arises from the skin of the external ear.	DOVES_relaxed.owl
MONDO:0005595	biolink:NamedThing	laryngeal squamous cell carcinoma	A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx.	DOVES_relaxed.owl
MONDO:0006059	biolink:NamedThing	nasal cavity squamous cell carcinoma	A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass.	DOVES_relaxed.owl
MONDO:0006060	biolink:NamedThing	nasopharyngeal squamous cell carcinoma	A squamous cell carcinoma that arises from the nasopharynx.	DOVES_relaxed.owl
MONDO:0006173	biolink:NamedThing	conjunctival squamous cell carcinoma	A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain.	DOVES_relaxed.owl
MONDO:0006303	biolink:NamedThing	middle ear squamous cell carcinoma	A rare squamous cell carcinoma that arises from the middle ear.	DOVES_relaxed.owl
MONDO:0006385	biolink:NamedThing	primary intraosseous squamous cell carcinoma	A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor.	DOVES_relaxed.owl
MONDO:0044705	biolink:NamedThing	paranasal sinus squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	DOVES_relaxed.owl
MONDO:0044710	biolink:NamedThing	lip and oral cavity squamous cell carcinoma	A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes.	DOVES_relaxed.owl
MONDO:0000539	biolink:NamedThing	striated muscle rhabdoid tumor	A rhabdoid tumor that involves the striated muscle tissue.	DOVES_relaxed.owl
MONDO:0002728	biolink:NamedThing	rhabdoid tumor	An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor.	DOVES_relaxed.owl
MONDO:0002729	biolink:NamedThing	rhabdoid tumor of the kidney	A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor.	DOVES_relaxed.owl
MONDO:0020560	biolink:NamedThing	atypical teratoid rhabdoid tumor	Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.	DOVES_relaxed.owl
MONDO:0044916	biolink:NamedThing	extrarenal rhabdoid tumor	A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.	DOVES_relaxed.owl
MONDO:0003939	biolink:NamedThing	muscle tissue disorder	A disease involving the muscle tissue.	DOVES_relaxed.owl
MONDO:0003671	biolink:NamedThing	septal myocardial infarction	A myocardial infarction (disease) that involves the cardiac septum.	DOVES_relaxed.owl
MONDO:0004642	biolink:NamedThing	tonsillar pillar cancer	A cancer that involves the tonsillar pillar.	DOVES_relaxed.owl
MONDO:0004714	biolink:NamedThing	atrophic muscular disease	A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves.	DOVES_relaxed.owl
MONDO:0005290	biolink:NamedThing	rhabdomyolysis	A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma.	DOVES_relaxed.owl
MONDO:0005307	biolink:NamedThing	contracture	Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.	DOVES_relaxed.owl
MONDO:0006516	biolink:NamedThing	sarcopenia	Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles.	DOVES_relaxed.owl
MONDO:0006648	biolink:NamedThing	anterior compartment syndrome	Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion.	DOVES_relaxed.owl
MONDO:0006763	biolink:NamedThing	frozen shoulder	A painful inflammatory process leads to a mechanical block in active and passive range of motion (ROM) of the shoulder. Adhesive capsulitis of the shoulder is characterized by functional loss of passive and active shoulder motion. This inflammatory process results in fibroblastic proliferation and extensive scar tissue formation. Fibroblastic proliferation, a late phase of the inflammatory process involved in tissue repair, leads to thickening, fibrosis, and adhesion of the capsule to itself and the humerus.	DOVES_relaxed.owl
MONDO:0007028	biolink:NamedThing	rotator cuff syndrome	Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder.	DOVES_relaxed.owl
MONDO:0016146	biolink:NamedThing	caveolinopathy	A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals	DOVES_relaxed.owl
MONDO:0021545	biolink:NamedThing	myomatous neoplasm	A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle.	DOVES_relaxed.owl
MONDO:0023558	biolink:NamedThing	Kocher-debre-Semelaigne syndrome		DOVES_relaxed.owl
MONDO:0005864	biolink:NamedThing	muscle cancer	A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas.	DOVES_relaxed.owl
MONDO:0002847	biolink:NamedThing	skeletal muscle cancer	A malignant neoplasm arising from skeletal muscle.	DOVES_relaxed.owl
MONDO:0002924	biolink:NamedThing	smooth muscle cancer	A malignant neoplasm arising from smooth muscle.	DOVES_relaxed.owl
MONDO:0000540	biolink:NamedThing	small intestinal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	DOVES_relaxed.owl
MONDO:0002995	biolink:NamedThing	small intestine neuroendocrine tumor, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine.	DOVES_relaxed.owl
MONDO:0003621	biolink:NamedThing	small intestinal vasoactive intestinal peptide producing tumor	A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide.	DOVES_relaxed.owl
MONDO:0004252	biolink:NamedThing	small intestinal L-cell glucagon-like peptide producing tumor	A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.	DOVES_relaxed.owl
MONDO:0015063	biolink:NamedThing	duodenal neuroendocrine tumor, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum.	DOVES_relaxed.owl
MONDO:0015064	biolink:NamedThing	jejunal neuroendocrine tumor, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the jejunum.	DOVES_relaxed.owl
MONDO:0015065	biolink:NamedThing	ileal neuroendocrine tumor, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum.	DOVES_relaxed.owl
MONDO:0021533	biolink:NamedThing	intestinal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	DOVES_relaxed.owl
MONDO:0006162	biolink:NamedThing	colorectal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	DOVES_relaxed.owl
MONDO:0000541	biolink:NamedThing	jejunal adenocarcinoma	A adenocarcinoma that involves the jejunum.	DOVES_relaxed.owl
MONDO:0006186	biolink:NamedThing	duodenal adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the duodenum.	DOVES_relaxed.owl
MONDO:0006815	biolink:NamedThing	jejunal cancer	A malignant neoplasm involving the jejunum.	DOVES_relaxed.owl
MONDO:0000543	biolink:NamedThing	ovarian melanoma	A melanoma (disease) that involves the ovary.	DOVES_relaxed.owl
MONDO:0002481	biolink:NamedThing	ovarian neuroendocrine neoplasm	An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.	DOVES_relaxed.owl
MONDO:0003049	biolink:NamedThing	ovarian large-cell neuroendocrine carcinoma	A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor.	DOVES_relaxed.owl
MONDO:0003795	biolink:NamedThing	ovarian small cell carcinoma	A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type.	DOVES_relaxed.owl
MONDO:0005191	biolink:NamedThing	metastatic melanoma	A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.	DOVES_relaxed.owl
MONDO:0000544	biolink:NamedThing	mucosal melanoma	A melanoma that arises from a mucosal site.	DOVES_relaxed.owl
MONDO:0006320	biolink:NamedThing	non-cutaneous melanoma	Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)	DOVES_relaxed.owl
MONDO:0002205	biolink:NamedThing	vulvar melanoma	A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria.	DOVES_relaxed.owl
MONDO:0016747	biolink:NamedThing	primary melanoma of the central nervous system	A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor.	DOVES_relaxed.owl
MONDO:0000545	biolink:NamedThing	sublingual gland adenoid cystic carcinoma	A adenoid cystic carcinoma that involves the sublingual gland.	DOVES_relaxed.owl
MONDO:0021070	biolink:NamedThing	sublingual gland carcinoma	A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma.	DOVES_relaxed.owl
MONDO:0045063	biolink:NamedThing	major salivary gland adenoid cystic carcinoma	An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.	DOVES_relaxed.owl
MONDO:0006356	biolink:NamedThing	parotid gland adenoid cystic carcinoma	An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.	DOVES_relaxed.owl
MONDO:0006436	biolink:NamedThing	submandibular gland adenoid cystic carcinoma	An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.	DOVES_relaxed.owl
MONDO:0000548	biolink:NamedThing	ovarian clear cell cancer	An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells.	DOVES_relaxed.owl
MONDO:0018364	biolink:NamedThing	malignant epithelial tumor of ovary	An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor.	DOVES_relaxed.owl
MONDO:0002920	biolink:NamedThing	malignant ovarian Brenner tumor	A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good.	DOVES_relaxed.owl
MONDO:0003812	biolink:NamedThing	ovarian endometrial cancer	A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.	DOVES_relaxed.owl
MONDO:0004032	biolink:NamedThing	ovarian seromucinous carcinoma	A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium.	DOVES_relaxed.owl
MONDO:0005140	biolink:NamedThing	ovarian carcinoma	A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002	DOVES_relaxed.owl
MONDO:0024282	biolink:NamedThing	mucinous ovarian cancer	An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma.	DOVES_relaxed.owl
MONDO:0024885	biolink:NamedThing	malignant ovarian serous tumor	An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma.	DOVES_relaxed.owl
MONDO:0021144	biolink:NamedThing	ovarian clear cell tumor	A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells.	DOVES_relaxed.owl
MONDO:0000549	biolink:NamedThing	cervical neuroblastoma	A relatively uncommon neuroblastoma that is found in the neck.	DOVES_relaxed.owl
MONDO:0002749	biolink:NamedThing	extracranial neuroblastoma	A neuroblastoma arising from an anatomic site other than the brain.	DOVES_relaxed.owl
MONDO:0004024	biolink:NamedThing	spinal cord neuroblastoma	A neuroblastoma that affects the spinal cord.	DOVES_relaxed.owl
MONDO:0006329	biolink:NamedThing	olfactory neuroblastoma	An olfactory neuroblastoma arising in the paranasal sinus.	DOVES_relaxed.owl
MONDO:0021351	biolink:NamedThing	neoplasm of neck	A neoplasm (disease) that involves the neck.	DOVES_relaxed.owl
MONDO:0015379	biolink:NamedThing	cervical dermoid cyst	Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.	DOVES_relaxed.owl
MONDO:0021257	biolink:NamedThing	glomus jugulare neoplasm	A neoplasm (disease) that involves the jugular body.	DOVES_relaxed.owl
MONDO:0021310	biolink:NamedThing	malignant tumor of neck	A cancer that involves the neck.	DOVES_relaxed.owl
MONDO:0000550	biolink:NamedThing	extra-adrenal sympathetic paraganglioma	A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas.	DOVES_relaxed.owl
MONDO:0021072	biolink:NamedThing	sympathetic paraganglioma	A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension.	DOVES_relaxed.owl
MONDO:0004974	biolink:NamedThing	adrenal gland pheochromocytoma	A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present.	DOVES_relaxed.owl
MONDO:0000551	biolink:NamedThing	retroperitoneal neuroblastoma	A neuroblastoma that involves the retroperitoneal space.	DOVES_relaxed.owl
MONDO:0001095	biolink:NamedThing	mediastinum neuroblastoma	A neuroblastoma arising from the mediastinum.	DOVES_relaxed.owl
MONDO:0002899	biolink:NamedThing	differentiating neuroblastoma	A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells.	DOVES_relaxed.owl
MONDO:0005598	biolink:NamedThing	dopaminergic neuroblastoma	A neuroblastoma associated with increased dopamine excretion.	DOVES_relaxed.owl
MONDO:0024340	biolink:NamedThing	retinal neuroblastoma	A neuroblastoma arising from the retina.	DOVES_relaxed.owl
MONDO:0024645	biolink:NamedThing	retroperitoneal neoplasm	A benign or malignant neoplasm that affects the retroperitoneum.	DOVES_relaxed.owl
MONDO:0003412	biolink:NamedThing	retroperitoneal hemangiopericytoma	A benign or malignant hemangiopericytoma arising from the retroperitoneum.	DOVES_relaxed.owl
MONDO:0003685	biolink:NamedThing	retroperitoneal germ cell neoplasm	A germ cell tumor that involves the retroperitoneal space.	DOVES_relaxed.owl
MONDO:0006398	biolink:NamedThing	retroperitoneal inflammatory myofibroblastic tumor	A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.	DOVES_relaxed.owl
MONDO:0000552	biolink:NamedThing	breast lobular carcinoma	An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal.	DOVES_relaxed.owl
MONDO:0002648	biolink:NamedThing	mammary Paget disease	A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur.	DOVES_relaxed.owl
MONDO:0002671	biolink:NamedThing	signet ring cell breast carcinoma	An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance.	DOVES_relaxed.owl
MONDO:0002705	biolink:NamedThing	breast mucinous cystadenocarcinoma	An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified.	DOVES_relaxed.owl
MONDO:0003185	biolink:NamedThing	adenoid cystic breast carcinoma	An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent.	DOVES_relaxed.owl
MONDO:0003635	biolink:NamedThing	sebaceous breast carcinoma	A very rare breast adenocarcinoma with sebaceous differentiation.	DOVES_relaxed.owl
MONDO:0003935	biolink:NamedThing	oncocytic breast carcinoma	A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population.	DOVES_relaxed.owl
MONDO:0004420	biolink:NamedThing	breast malignant eccrine spiradenoma	A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast.	DOVES_relaxed.owl
MONDO:0005590	biolink:NamedThing	breast ductal adenocarcinoma	A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.	DOVES_relaxed.owl
MONDO:0006306	biolink:NamedThing	mixed lobular and ductal breast carcinoma	A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor.	DOVES_relaxed.owl
MONDO:0006804	biolink:NamedThing	inflammatory breast carcinoma	An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma.	DOVES_relaxed.owl
MONDO:0000553	biolink:NamedThing	uterine corpus endometrial carcinoma	A endometrial carcinoma (disease) that involves the body of uterus.	DOVES_relaxed.owl
MONDO:0002447	biolink:NamedThing	endometrial carcinoma	A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation.	DOVES_relaxed.owl
MONDO:0002832	biolink:NamedThing	endometrial transitional cell carcinoma	A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells.	DOVES_relaxed.owl
MONDO:0003315	biolink:NamedThing	endometrium carcinoma in situ	A carcinoma in situ involving a endometrium.	DOVES_relaxed.owl
MONDO:0006197	biolink:NamedThing	endometrial small cell carcinoma	A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically.	DOVES_relaxed.owl
MONDO:0006199	biolink:NamedThing	endometrial undifferentiated carcinoma	A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation.	DOVES_relaxed.owl
MONDO:0006003	biolink:NamedThing	uterine corpus cancer	A malignant neoplasm involving the body of uterus.	DOVES_relaxed.owl
MONDO:0002879	biolink:NamedThing	uterine body mixed cancer	A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma.	DOVES_relaxed.owl
MONDO:0003629	biolink:NamedThing	uterine corpus serous adenocarcinoma	A serous adenocarcinoma that involves the uterine corpus.	DOVES_relaxed.owl
MONDO:0005210	biolink:NamedThing	uterine corpus sarcoma	A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma.	DOVES_relaxed.owl
MONDO:0016267	biolink:NamedThing	undifferentiated carcinoma of the corpus uteri	Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.	DOVES_relaxed.owl
MONDO:0016268	biolink:NamedThing	papillary carcinoma of the corpus uteri	A papillary carcinoma that involves the body of uterus.	DOVES_relaxed.owl
MONDO:0016269	biolink:NamedThing	high-grade neuroendocrine carcinoma of the corpus uteri	High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.	DOVES_relaxed.owl
MONDO:0016270	biolink:NamedThing	low-grade neuroendocrine tumor of the corpus uteri	Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop.	DOVES_relaxed.owl
MONDO:0016271	biolink:NamedThing	adenoid cystic carcinoma of the corpus uteri	A adenoid cystic carcinoma that involves the body of uterus.	DOVES_relaxed.owl
MONDO:0016272	biolink:NamedThing	transitional cell carcinoma of the corpus uteri	A transitional cell carcinoma that involves the body of uterus.	DOVES_relaxed.owl
MONDO:0016273	biolink:NamedThing	malignant germ cell tumor of corpus uteri	A malignant germ cell tumor that involves the body of uterus.	DOVES_relaxed.owl
MONDO:0000554	biolink:NamedThing	endocervical adenocarcinoma	An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei.	DOVES_relaxed.owl
MONDO:0004259	biolink:NamedThing	endocervical carcinoma	A carcinoma that arises from epithelial cells of the endocervix.	DOVES_relaxed.owl
MONDO:0002741	biolink:NamedThing	uterine ligament adenocarcinoma	A rare adenocarcinoma that arises from the uterine ligament.	DOVES_relaxed.owl
MONDO:0002742	biolink:NamedThing	cervical mucinous adenocarcinoma	A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin.	DOVES_relaxed.owl
MONDO:0003410	biolink:NamedThing	Wolffian duct adenocarcinoma	A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells.	DOVES_relaxed.owl
MONDO:0003631	biolink:NamedThing	cervical serous adenocarcinoma	A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen.	DOVES_relaxed.owl
MONDO:0003665	biolink:NamedThing	cervical endometrioid adenocarcinoma	A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium.	DOVES_relaxed.owl
MONDO:0004530	biolink:NamedThing	early invasive cervical adenocarcinoma	A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent.	DOVES_relaxed.owl
MONDO:0006133	biolink:NamedThing	cervical adenoid cystic carcinoma	A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present.	DOVES_relaxed.owl
MONDO:0006134	biolink:NamedThing	cervical adenosquamous carcinoma	An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells.	DOVES_relaxed.owl
MONDO:0006135	biolink:NamedThing	cervical clear cell adenocarcinoma	A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES).	DOVES_relaxed.owl
MONDO:0000563	biolink:NamedThing	GRID2-related autosomal dominant spinocerebellar ataxia		DOVES_relaxed.owl
MONDO:0013029	biolink:NamedThing	cerebellar ataxia type 9		DOVES_relaxed.owl
MONDO:0014867	biolink:NamedThing	spinocerebellar ataxia 43	Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.	DOVES_relaxed.owl
MONDO:0014934	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive 24	Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene.	DOVES_relaxed.owl
MONDO:0016163	biolink:NamedThing	autosomal dominant cerebellar ataxia type II		DOVES_relaxed.owl
MONDO:0019792	biolink:NamedThing	autosomal dominant cerebellar ataxia type I	Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	DOVES_relaxed.owl
MONDO:0019793	biolink:NamedThing	autosomal dominant cerebellar ataxia type III	Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.	DOVES_relaxed.owl
MONDO:0019794	biolink:NamedThing	autosomal dominant cerebellar ataxia type IV		DOVES_relaxed.owl
MONDO:0030805	biolink:NamedThing	spinocerebellar ataxia 49		DOVES_relaxed.owl
MONDO:0032526	biolink:NamedThing	spinocerebellar ataxia 48		DOVES_relaxed.owl
MONDO:0033479	biolink:NamedThing	spinocerebellar ataxia 44		DOVES_relaxed.owl
MONDO:0033482	biolink:NamedThing	spinocerebellar ataxia 47		DOVES_relaxed.owl
MONDO:0000565	biolink:NamedThing	infective endocarditis	Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue.	DOVES_relaxed.owl
MONDO:0005025	biolink:NamedThing	endocarditis	Inflammation of the endocardium.	DOVES_relaxed.owl
MONDO:0000610	biolink:NamedThing	marantic endocarditis	Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia).	DOVES_relaxed.owl
MONDO:0005550	biolink:NamedThing	infectious disease	A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent in humans. It can be transmitted by direct or indirect contact.	DOVES_relaxed.owl
MONDO:0001191	biolink:NamedThing	hirudiniasis	An disease or disorder caused by infection with Hirudinea.	DOVES_relaxed.owl
MONDO:0005227	biolink:NamedThing	abscess	An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body.	DOVES_relaxed.owl
MONDO:0005704	biolink:NamedThing	Ciliophora infectious disease	Infections with protozoa of the phylum ciliophora.	DOVES_relaxed.owl
MONDO:0005799	biolink:NamedThing	hookworm infectious disease	Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available.	DOVES_relaxed.owl
MONDO:0016511	biolink:NamedThing	infectious embryofetopathy		DOVES_relaxed.owl
MONDO:0016823	biolink:NamedThing	mycetoma	Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains.	DOVES_relaxed.owl
MONDO:0020010	biolink:NamedThing	infectious disorder of the nervous system	A infectious disease that involves the nervous system.	DOVES_relaxed.owl
MONDO:0021742	biolink:NamedThing	puerperal infection	An infection occurring in puerperium, the period of 6-8 weeks after giving birth.	DOVES_relaxed.owl
MONDO:0023557	biolink:NamedThing	infective vaginitis	An infectious process affecting the vagina. Symptoms include pain and purulent discharge.	DOVES_relaxed.owl
MONDO:0024487	biolink:NamedThing	nail infection	An infectious process affecting the nail.	DOVES_relaxed.owl
MONDO:0025371	biolink:NamedThing	Parvoviridae infectious disease	Virus infections caused by the parvoviridae.	DOVES_relaxed.owl
MONDO:0025481	biolink:NamedThing	zoonosis	An infectious disease of non-human animals that may be transmitted to humans or may be transmitted from humans to non-human animals, caused by a pathogen (an infectious agent, including bacteria, viruses, parasites, prions, etc).	DOVES_relaxed.owl
MONDO:0042485	biolink:NamedThing	infective arthritis	The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.	DOVES_relaxed.owl
MONDO:0043544	biolink:NamedThing	nosocomial infection	An infection acquired in a hospital or other healthcare setting.	DOVES_relaxed.owl
MONDO:0043885	biolink:NamedThing	eye infectious disorder	An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma.	DOVES_relaxed.owl
MONDO:0043892	biolink:NamedThing	prosthesis-related infectious disease	A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread.	DOVES_relaxed.owl
MONDO:0100128	biolink:NamedThing	coinfection	The simultaneous infection of a host by multiple pathogen species.	DOVES_relaxed.owl
MONDO:0100338	biolink:NamedThing	urinary tract infection		DOVES_relaxed.owl
MONDO:0600002	biolink:NamedThing	hemorrhagic fever	An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness.	DOVES_relaxed.owl
MONDO:0700045	biolink:NamedThing	protothecosis	A disease caused by infection with achlorophyllic algae of the genus Prototheca, the majority caused by the species P. wickerhamii. Clinical manifestations of reported cases have included cutaneous lesions, olecranon bursitis, or systemic involvement.	DOVES_relaxed.owl
MONDO:0000568	biolink:NamedThing	autoimmune disorder of central nervous system	A hypersensitivity reaction type II disease that involves the central nervous system.	DOVES_relaxed.owl
MONDO:0002602	biolink:NamedThing	central nervous system disorder	A disease involving the central nervous system.	DOVES_relaxed.owl
MONDO:0001292	biolink:NamedThing	autonomic nervous system disorder	A disease involving the autonomic nervous system.	DOVES_relaxed.owl
MONDO:0002135	biolink:NamedThing	optic nerve disorder	A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve).	DOVES_relaxed.owl
MONDO:0002545	biolink:NamedThing	spinal cord disorder	A disease involving the spinal cord.	DOVES_relaxed.owl
MONDO:0002570	biolink:NamedThing	high pressure neurological syndrome	A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium.	DOVES_relaxed.owl
MONDO:0003346	biolink:NamedThing	central nervous system vasculitis	Vasculitis affecting the blood vessels of the brain and/or spinal cord.	DOVES_relaxed.owl
MONDO:0006130	biolink:NamedThing	central nervous system neoplasm	A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia.	DOVES_relaxed.owl
MONDO:0006496	biolink:NamedThing	palsy	A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)	DOVES_relaxed.owl
MONDO:0008599	biolink:NamedThing	trigeminal neuralgia	Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches.	DOVES_relaxed.owl
MONDO:0013351	biolink:NamedThing	infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.	DOVES_relaxed.owl
MONDO:0024619	biolink:NamedThing	central nervous system infectious disorder	An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.	DOVES_relaxed.owl
MONDO:0043327	biolink:NamedThing	cerebrospinal fluid leak	Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA).	DOVES_relaxed.owl
MONDO:0000590	biolink:NamedThing	autoimmune disorder of peripheral nervous system	A hypersensitivity reaction type II disease that involves the peripheral nervous system.	DOVES_relaxed.owl
MONDO:0019020	biolink:NamedThing	PANDAS	PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.	DOVES_relaxed.owl
MONDO:0100014	biolink:NamedThing	autoimmune retinopathy	An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss.	DOVES_relaxed.owl
MONDO:0000572	biolink:NamedThing	recombinase activating gene 1 deficiency	A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.	DOVES_relaxed.owl
MONDO:0015974	biolink:NamedThing	severe combined immunodeficiency	Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.	DOVES_relaxed.owl
MONDO:0000573	biolink:NamedThing	recombinase activating gene 2 deficiency	A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.	DOVES_relaxed.owl
MONDO:0005511	biolink:NamedThing	janus kinase-3 deficiency	Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency.	DOVES_relaxed.owl
MONDO:0011132	biolink:NamedThing	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.	DOVES_relaxed.owl
MONDO:0017855	biolink:NamedThing	T-B- severe combined immunodeficiency	T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.	DOVES_relaxed.owl
MONDO:0030981	biolink:NamedThing	immunodeficiency 79		DOVES_relaxed.owl
MONDO:0031520	biolink:NamedThing	familial severe combined immunodeficiency		DOVES_relaxed.owl
MONDO:0034054	biolink:NamedThing	severe combined immunodeficiency due to CD70 deficiency		DOVES_relaxed.owl
MONDO:0044200	biolink:NamedThing	T-B+ severe combined immunodeficiency	T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.	DOVES_relaxed.owl
MONDO:0044201	biolink:NamedThing	T+ B+ severe combined immunodeficiency		DOVES_relaxed.owl
MONDO:0000577	biolink:NamedThing	congenital anemia	Anemia, the cause of which is present at birth.	DOVES_relaxed.owl
MONDO:0002280	biolink:NamedThing	anemia	A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability.	DOVES_relaxed.owl
MONDO:0001240	biolink:NamedThing	neonatal anemia	The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation.	DOVES_relaxed.owl
MONDO:0001529	biolink:NamedThing	pancytopenia	A finding of low numbers of red and white blood cells and platelets in the peripheral blood.	DOVES_relaxed.owl
MONDO:0001639	biolink:NamedThing	deficiency anemia		DOVES_relaxed.owl
MONDO:0001705	biolink:NamedThing	pure red-cell aplasia	A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia.	DOVES_relaxed.owl
MONDO:0002281	biolink:NamedThing	macrocytic anemia	Anemia that is characterized by increased red blood cell volume.	DOVES_relaxed.owl
MONDO:0004139	biolink:NamedThing	normocytic anemia	Anemia in which the red blood cell volume is normal.	DOVES_relaxed.owl
MONDO:0015194	biolink:NamedThing	sideroblastic anemia	A group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.	DOVES_relaxed.owl
MONDO:0015909	biolink:NamedThing	aplastic anemia	Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.	DOVES_relaxed.owl
MONDO:0016242	biolink:NamedThing	hemoglobin C disease	Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).	DOVES_relaxed.owl
MONDO:0016243	biolink:NamedThing	hemoglobin E disease	Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.	DOVES_relaxed.owl
MONDO:0017144	biolink:NamedThing	alpha-thalassemia and related diseases		DOVES_relaxed.owl
MONDO:0017145	biolink:NamedThing	beta-thalassemia and related diseases		DOVES_relaxed.owl
MONDO:0017146	biolink:NamedThing	sickle cell disease and related diseases		DOVES_relaxed.owl
MONDO:0017238	biolink:NamedThing	hemoglobinopathy Toms River		DOVES_relaxed.owl
MONDO:0017397	biolink:NamedThing	constitutional dyserythropoietic anemia		DOVES_relaxed.owl
MONDO:0018963	biolink:NamedThing	hereditary methemoglobinemia	Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.	DOVES_relaxed.owl
MONDO:0019537	biolink:NamedThing	hemoglobin D disease	Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).	DOVES_relaxed.owl
MONDO:0020584	biolink:NamedThing	anemia due to enzyme disorder	Any form of anemia that results from the absence of, or the defective action of, any enzyme.	DOVES_relaxed.owl
MONDO:0020725	biolink:NamedThing	anemia due to chronic disorder	Anemia due to a disorder that is persistent or long-standing in nature.	DOVES_relaxed.owl
MONDO:0009332	biolink:NamedThing	congenital hematological disorder	A disorder of the blood that is present at birth.	DOVES_relaxed.owl
MONDO:0001902	biolink:NamedThing	congenital agammaglobulinemia	An instance of agammaglobulinemia that is present from birth.	DOVES_relaxed.owl
MONDO:0008502	biolink:NamedThing	sulfhemoglobinemia, congenital		DOVES_relaxed.owl
MONDO:0008554	biolink:NamedThing	thrombocythemia 1		DOVES_relaxed.owl
MONDO:0012465	biolink:NamedThing	hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.	DOVES_relaxed.owl
MONDO:0014449	biolink:NamedThing	congenital analbuminemia	Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).	DOVES_relaxed.owl
MONDO:0015134	biolink:NamedThing	constitutional neutropenia	A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.	DOVES_relaxed.owl
MONDO:0016540	biolink:NamedThing	congenital secondary polycythemia		DOVES_relaxed.owl
MONDO:0000583	biolink:NamedThing	immunoglobulin beta deficiency		DOVES_relaxed.owl
MONDO:0002468	biolink:NamedThing	hyperimmunoglobulin syndrome		DOVES_relaxed.owl
MONDO:0003739	biolink:NamedThing	selective immunoglobulin deficiency disease	A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.	DOVES_relaxed.owl
MONDO:0015977	biolink:NamedThing	agammaglobulinemia	A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.	DOVES_relaxed.owl
MONDO:0000584	biolink:NamedThing	B cell linker protein deficiency	A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.	DOVES_relaxed.owl
MONDO:0010296	biolink:NamedThing	immunodeficiency 61		DOVES_relaxed.owl
MONDO:0015696	biolink:NamedThing	Good syndrome	Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.	DOVES_relaxed.owl
MONDO:0016462	biolink:NamedThing	isolated agammaglobulinemia	Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.	DOVES_relaxed.owl
MONDO:0018338	biolink:NamedThing	activated PI3K-delta syndrome		DOVES_relaxed.owl
MONDO:0030519	biolink:NamedThing	agammaglobulinemia 9, autosomal recessive	An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy.	DOVES_relaxed.owl
MONDO:0030529	biolink:NamedThing	agammaglobulinemia 10, autosomal dominant	An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported.	DOVES_relaxed.owl
MONDO:0800146	biolink:NamedThing	agammaglobulinemia, autosomal recessive, due to BOB1 deficiency	Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene.	DOVES_relaxed.owl
MONDO:0024623	biolink:NamedThing	otorhinolaryngologic disease	Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.	DOVES_relaxed.owl
MONDO:0002436	biolink:NamedThing	nasal disorder	A disease involving the nose.	DOVES_relaxed.owl
MONDO:0015070	biolink:NamedThing	laryngeal neuroendocrine neoplasm	A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma.	DOVES_relaxed.owl
MONDO:0015386	biolink:NamedThing	epignathus	Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.	DOVES_relaxed.owl
MONDO:0015393	biolink:NamedThing	nasal ganglioglioma	Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.	DOVES_relaxed.owl
MONDO:0015476	biolink:NamedThing	cysts and fistulae of the face and oral cavity		DOVES_relaxed.owl
MONDO:0015504	biolink:NamedThing	larynx anomaly		DOVES_relaxed.owl
MONDO:0015505	biolink:NamedThing	tracheal anomaly		DOVES_relaxed.owl
MONDO:0015604	biolink:NamedThing	middle ear anomaly		DOVES_relaxed.owl
MONDO:0015743	biolink:NamedThing	idiopathic bilateral vestibulopathy	Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.	DOVES_relaxed.owl
MONDO:0016217	biolink:NamedThing	mal de Debarquement	Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train.	DOVES_relaxed.owl
MONDO:0017340	biolink:NamedThing	juvenile nasopharyngeal angiofibroma	Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.	DOVES_relaxed.owl
MONDO:0018484	biolink:NamedThing	semicircular canal dehiscence syndrome	Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.	DOVES_relaxed.owl
MONDO:0019108	biolink:NamedThing	silent sinus syndrome	Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls.	DOVES_relaxed.owl
MONDO:0021205	biolink:NamedThing	disorder of ear	A disease that involves the ear.	DOVES_relaxed.owl
MONDO:0002081	biolink:NamedThing	musculoskeletal system disorder	A disease involving the musculoskeletal system.	DOVES_relaxed.owl
MONDO:0002183	biolink:NamedThing	enthesopathy	A disorder involving the attachment of a tendon or ligament to a bone	DOVES_relaxed.owl
MONDO:0006438	biolink:NamedThing	synovial chondromatosis	Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common.	DOVES_relaxed.owl
MONDO:0007177	biolink:NamedThing	auriculoosteodysplasia	Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.	DOVES_relaxed.owl
MONDO:0045044	biolink:NamedThing	ligament disorder	A disease or disorder that involves the ligament.	DOVES_relaxed.owl
MONDO:0056799	biolink:NamedThing	synovium disorder	A disease or disorder that involves the layer of synovial tissue.	DOVES_relaxed.owl
MONDO:0100010	biolink:NamedThing	tendinopathy	Disorders that are causes by overuse of tendons.	DOVES_relaxed.owl
MONDO:0003620	biolink:NamedThing	peripheral nervous system disorder	A disease involving the peripheral nervous system.	DOVES_relaxed.owl
MONDO:0001406	biolink:NamedThing	peripheral nervous system neoplasm	A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.	DOVES_relaxed.owl
MONDO:0001563	biolink:NamedThing	vestibulocochlear nerve disorder	A disease involving the vestibulocochlear nerve.	DOVES_relaxed.owl
MONDO:0001810	biolink:NamedThing	hypoglossal nerve disorder	A disease involving the hypoglossal nerve.	DOVES_relaxed.owl
MONDO:0002098	biolink:NamedThing	facial nerve disorder	A disease involving the facial nerve.	DOVES_relaxed.owl
MONDO:0002173	biolink:NamedThing	neuroma	A tumor that grows from a nerve or is composed of nerve cells and nerve fibers.	DOVES_relaxed.owl
MONDO:0002636	biolink:NamedThing	accessory nerve disorder	A disease involving the accessory XI nerve.	DOVES_relaxed.owl
MONDO:0002639	biolink:NamedThing	glossopharyngeal nerve disorder	A disease involving the glossopharyngeal nerve.	DOVES_relaxed.owl
MONDO:0002959	biolink:NamedThing	radiculopathy	Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root.	DOVES_relaxed.owl
MONDO:0003543	biolink:NamedThing	trigeminal nerve disorder	A disease involving the trigeminal nerve.	DOVES_relaxed.owl
MONDO:0003546	biolink:NamedThing	third cranial nerve disorder	A disease involving the oculomotor nerve.	DOVES_relaxed.owl
MONDO:0005244	biolink:NamedThing	peripheral neuropathy	A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.	DOVES_relaxed.owl
MONDO:0006903	biolink:NamedThing	peroneal nerve paralysis	Paralysis of the nerves located in the legs.	DOVES_relaxed.owl
MONDO:0007002	biolink:NamedThing	trochlear nerve disorder	A disease involving the trochlear nerve.	DOVES_relaxed.owl
MONDO:0020594	biolink:NamedThing	abducens nerve disorder	A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve).	DOVES_relaxed.owl
MONDO:0005503	biolink:NamedThing	developmental disorder of mental health	A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.	DOVES_relaxed.owl
MONDO:0000594	biolink:NamedThing	pervasive developmental disorder	A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.	DOVES_relaxed.owl
MONDO:0100038	biolink:NamedThing	complex neurodevelopmental disorder	A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy).	DOVES_relaxed.owl
MONDO:0100456	biolink:NamedThing	neonatal encephalopathy with non-epileptic myoclonus	A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay.	DOVES_relaxed.owl
MONDO:0100465	biolink:NamedThing	complex neurodevelopmental disorder with or without congenital anomalies	A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), in addition to one or more structural or functional anomaly(ies) that develops prenatally.	DOVES_relaxed.owl
MONDO:0100516	biolink:NamedThing	complex neurodevelopmental disorder with motor features	A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia.	DOVES_relaxed.owl
MONDO:0000595	biolink:NamedThing	sexual and gender identity disorders	A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle.	DOVES_relaxed.owl
MONDO:0002025	biolink:NamedThing	psychiatric disorder	A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.	DOVES_relaxed.owl
MONDO:0001160	biolink:NamedThing	dissociative disorder	A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment.	DOVES_relaxed.owl
MONDO:0001162	biolink:NamedThing	impulse control disorder	A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others.	DOVES_relaxed.owl
MONDO:0001500	biolink:NamedThing	gender identity disorder	A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery).	DOVES_relaxed.owl
MONDO:0002028	biolink:NamedThing	personality disorder	A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work.	DOVES_relaxed.owl
MONDO:0002039	biolink:NamedThing	cognitive disorder	A disease affects cognitive processes.	DOVES_relaxed.owl
MONDO:0002103	biolink:NamedThing	factitious disorder	A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors.	DOVES_relaxed.owl
MONDO:0002494	biolink:NamedThing	substance-related disorder	A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs).	DOVES_relaxed.owl
MONDO:0003117	biolink:NamedThing	somatoform disorder	A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons.	DOVES_relaxed.owl
MONDO:0005451	biolink:NamedThing	eating disorder	A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake.	DOVES_relaxed.owl
MONDO:0800105	biolink:NamedThing	catatonia	A psychiatric disorder featuring stupor, posturing, and echophenomena.	DOVES_relaxed.owl
MONDO:0850100	biolink:NamedThing	body integrity dysphoria		DOVES_relaxed.owl
MONDO:0000596	biolink:NamedThing	paraphilic disorder	Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V)	DOVES_relaxed.owl
MONDO:0000947	biolink:NamedThing	psychosexual disorder		DOVES_relaxed.owl
MONDO:0000946	biolink:NamedThing	psychologic vaginismus	Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.	DOVES_relaxed.owl
MONDO:0001196	biolink:NamedThing	psychologic dyspareunia		DOVES_relaxed.owl
MONDO:0001821	biolink:NamedThing	hypoactive sexual desire disorder	A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition.	DOVES_relaxed.owl
MONDO:0040674	biolink:NamedThing	orgasm disorder		DOVES_relaxed.owl
MONDO:0000597	biolink:NamedThing	Munchausen by proxy	A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.	DOVES_relaxed.owl
MONDO:0000598	biolink:NamedThing	aphasia	A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.	DOVES_relaxed.owl
MONDO:0004750	biolink:NamedThing	language disorder	A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect.	DOVES_relaxed.owl
MONDO:0001276	biolink:NamedThing	expressive language disorder	A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult).	DOVES_relaxed.owl
MONDO:0001568	biolink:NamedThing	mixed receptive-expressive language disorder	A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult).	DOVES_relaxed.owl
MONDO:0002903	biolink:NamedThing	articulation disorder	A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants).	DOVES_relaxed.owl
MONDO:0000599	biolink:NamedThing	writing disorder	A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.	DOVES_relaxed.owl
MONDO:0001552	biolink:NamedThing	dyscalculia	A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties.	DOVES_relaxed.owl
MONDO:0001697	biolink:NamedThing	reading disorder	A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process.	DOVES_relaxed.owl
MONDO:0000600	biolink:NamedThing	nosophobia	A specific phobia that involves an irrational fear of contracting a disease.	DOVES_relaxed.owl
MONDO:0003727	biolink:NamedThing	animal phobia	An overwhelming, irrational, and persistent fear of animals.	DOVES_relaxed.owl
MONDO:0003748	biolink:NamedThing	flying phobia	An overwhelming, irrational, and persistent fear of traveling in an aircraft.	DOVES_relaxed.owl
MONDO:0005570	biolink:NamedThing	hematologic disorder	A disease involving the hematopoietic system.	DOVES_relaxed.owl
MONDO:0001531	biolink:NamedThing	blood coagulation disease	A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood.	DOVES_relaxed.owl
MONDO:0002332	biolink:NamedThing	splenic disorder	A disease involving the spleen.	DOVES_relaxed.owl
MONDO:0002334	biolink:NamedThing	hematopoietic and lymphoid system neoplasm	Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003	DOVES_relaxed.owl
MONDO:0002901	biolink:NamedThing	blood group incompatibility		DOVES_relaxed.owl
MONDO:0004960	biolink:NamedThing	monoclonal gammopathy	A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine.	DOVES_relaxed.owl
MONDO:0005956	biolink:NamedThing	septicemic plague	A plague in which the bacteria have entered the bloodstream.	DOVES_relaxed.owl
MONDO:0006789	biolink:NamedThing	hyperamylasemia	Abnormally high level of amylase in the blood.	DOVES_relaxed.owl
MONDO:0014274	biolink:NamedThing	L-ferritin deficiency		DOVES_relaxed.owl
MONDO:0018678	biolink:NamedThing	polyclonal hyperviscosity syndrome		DOVES_relaxed.owl
MONDO:0044347	biolink:NamedThing	erythrocyte disorder	A disease or disorder that involves the erythrocyte.	DOVES_relaxed.owl
MONDO:0060782	biolink:NamedThing	premalignant hematological system disease	A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes.	DOVES_relaxed.owl
MONDO:0100089	biolink:NamedThing	GATA1-Related X-Linked Cytopenia	X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.	DOVES_relaxed.owl
MONDO:0004995	biolink:NamedThing	cardiovascular disorder	A disease involving the cardiovascular system.	DOVES_relaxed.owl
MONDO:0017388	biolink:NamedThing	celiac trunk compression syndrome	A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.	DOVES_relaxed.owl
MONDO:0024757	biolink:NamedThing	cardiovascular neoplasm	A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma.	DOVES_relaxed.owl
MONDO:0000605	biolink:NamedThing	hypersensitivity reaction disease	An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.	DOVES_relaxed.owl
MONDO:0005046	biolink:NamedThing	immune system disorder	A disorder resulting from an abnormality in the immune system.	DOVES_relaxed.owl
MONDO:0005095	biolink:NamedThing	spondyloarthropathy	A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis.	DOVES_relaxed.owl
MONDO:0005175	biolink:NamedThing	aggressive insulitis	Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes.	DOVES_relaxed.owl
MONDO:0005176	biolink:NamedThing	benign insulitis	A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation.	DOVES_relaxed.owl
MONDO:0012105	biolink:NamedThing	granulomatosis with polyangiitis	A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.	DOVES_relaxed.owl
MONDO:0013730	biolink:NamedThing	graft versus host disease	An immune system disorder that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.	DOVES_relaxed.owl
MONDO:0014912	biolink:NamedThing	infantile-onset periodic fever-panniculitis-dermatosis syndrome		DOVES_relaxed.owl
MONDO:0016351	biolink:NamedThing	anti-HLA hyperimmunization	Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion.	DOVES_relaxed.owl
MONDO:0017769	biolink:NamedThing	acquired immunodeficiency		DOVES_relaxed.owl
MONDO:0017787	biolink:NamedThing	erythroderma desquamativum		DOVES_relaxed.owl
MONDO:0019805	biolink:NamedThing	twin to twin transfusion syndrome	Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated	DOVES_relaxed.owl
MONDO:0021334	biolink:NamedThing	immunoproliferative disorder	Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins.	DOVES_relaxed.owl
MONDO:0022919	biolink:NamedThing	cytokine receptor deficiency	A disease that has its basis in the disruption of cytokine receptor activity.	DOVES_relaxed.owl
MONDO:0024572	biolink:NamedThing	immunodeficiency-related disorder	A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation.	DOVES_relaxed.owl
MONDO:0024627	biolink:NamedThing	phagocytic cell dysfunction		DOVES_relaxed.owl
MONDO:0043768	biolink:NamedThing	thrombocytopenic purpura	Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors.	DOVES_relaxed.owl
MONDO:0044986	biolink:NamedThing	lymphoid system disorder	A disease or disorder that involves the lymphoid system.	DOVES_relaxed.owl
MONDO:0600008	biolink:NamedThing	cytokine release syndrome	A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening.	DOVES_relaxed.owl
MONDO:0850068	biolink:NamedThing	early-onset autoimmunity-autoinflammation-immunodeficiency syndrome		DOVES_relaxed.owl
MONDO:0850070	biolink:NamedThing	CADINS disease		DOVES_relaxed.owl
MONDO:0000607	biolink:NamedThing	primary cutaneous T-cell non-Hodgkin lymphoma	A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma.	DOVES_relaxed.owl
MONDO:0018898	biolink:NamedThing	primary cutaneous lymphoma	Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.	DOVES_relaxed.owl
MONDO:0015820	biolink:NamedThing	primary cutaneous B-cell lymphoma		DOVES_relaxed.owl
MONDO:0001339	biolink:NamedThing	portal vein thrombosis	The formation of a blood clot (thrombus) in the portal vein.	DOVES_relaxed.owl
MONDO:0002907	biolink:NamedThing	intracranial thrombosis	Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis.	DOVES_relaxed.owl
MONDO:0006716	biolink:NamedThing	coronary thrombosis	Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction.	DOVES_relaxed.owl
MONDO:0018048	biolink:NamedThing	heparin-induced thrombocytopenia	Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.	DOVES_relaxed.owl
MONDO:0018854	biolink:NamedThing	acquired purpura fulminans	A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF.	DOVES_relaxed.owl
MONDO:0035008	biolink:NamedThing	isolated splenic vein thrombosis		DOVES_relaxed.owl
MONDO:0035009	biolink:NamedThing	isolated mesenteric vein thrombosis		DOVES_relaxed.owl
MONDO:0002242	biolink:NamedThing	coagulation protein disease	Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.	DOVES_relaxed.owl
MONDO:0002305	biolink:NamedThing	thrombophilia	A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.	DOVES_relaxed.owl
MONDO:0006784	biolink:NamedThing	hemorrhagic disease of newborn	A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver.	DOVES_relaxed.owl
MONDO:0019737	biolink:NamedThing	thrombotic microangiopathy	The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation.	DOVES_relaxed.owl
MONDO:0044744	biolink:NamedThing	prekallikrein deficiency	A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.	DOVES_relaxed.owl
MONDO:0000611	biolink:NamedThing	pre-malignant neoplasm	A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.	DOVES_relaxed.owl
MONDO:0005070	biolink:NamedThing	neoplasm	A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.	DOVES_relaxed.owl
MONDO:0002171	biolink:NamedThing	giant cell tumor	A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells.	DOVES_relaxed.owl
MONDO:0002531	biolink:NamedThing	skin neoplasm	A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma.	DOVES_relaxed.owl
MONDO:0002616	biolink:NamedThing	mesenchymal cell neoplasm	A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma.	DOVES_relaxed.owl
MONDO:0002872	biolink:NamedThing	trophoblastic neoplasm	A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma.	DOVES_relaxed.owl
MONDO:0005040	biolink:NamedThing	germ cell tumor	A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.	DOVES_relaxed.owl
MONDO:0005398	biolink:NamedThing	upper aerodigestive tract neoplasm	Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)	DOVES_relaxed.owl
MONDO:0005509	biolink:NamedThing	histiocytoma	A mesenchymal tumor composed of fibroblastic and histiocytic cells.	DOVES_relaxed.owl
MONDO:0005564	biolink:NamedThing	embryonal neoplasm	A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003	DOVES_relaxed.owl
MONDO:0005586	biolink:NamedThing	head and neck neoplasm	A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.	DOVES_relaxed.owl
MONDO:0005626	biolink:NamedThing	epithelial neoplasm	A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.	DOVES_relaxed.owl
MONDO:0006323	biolink:NamedThing	non-seminomatous lesion	A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma.	DOVES_relaxed.owl
MONDO:0006328	biolink:NamedThing	odontogenic cyst	A cyst in the jaw that arises from tissues of tooth development.	DOVES_relaxed.owl
MONDO:0006368	biolink:NamedThing	phosphaturic mesenchymal tumor	An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor.	DOVES_relaxed.owl
MONDO:0006460	biolink:NamedThing	thyroglossal duct cyst	A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck.	DOVES_relaxed.owl
MONDO:0006499	biolink:NamedThing	hamartoma	A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern.	DOVES_relaxed.owl
MONDO:0006854	biolink:NamedThing	mesenchymoma	A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.	DOVES_relaxed.owl
MONDO:0006856	biolink:NamedThing	mesothelial neoplasm	A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003	DOVES_relaxed.owl
MONDO:0006901	biolink:NamedThing	peritoneal neoplasm	A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.	DOVES_relaxed.owl
MONDO:0015157	biolink:NamedThing	human herpesvirus 8-related tumor		DOVES_relaxed.owl
MONDO:0015682	biolink:NamedThing	primary peritoneal tumor		DOVES_relaxed.owl
MONDO:0017341	biolink:NamedThing	virus associated tumor		DOVES_relaxed.owl
MONDO:0017588	biolink:NamedThing	nail tumor	A neoplasm involving a nail.	DOVES_relaxed.owl
MONDO:0018191	biolink:NamedThing	tumor of testis and paratestis		DOVES_relaxed.owl
MONDO:0020664	biolink:NamedThing	spindle cell neoplasm	A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0021043	biolink:NamedThing	mixed neoplasm	A neoplasm composed of at least two distinct cellular populations.	DOVES_relaxed.owl
MONDO:0021066	biolink:NamedThing	urinary system neoplasm	A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003	DOVES_relaxed.owl
MONDO:0021077	biolink:NamedThing	cystic neoplasm	A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma.	DOVES_relaxed.owl
MONDO:0021079	biolink:NamedThing	childhood neoplasm	A benign or malignant neoplasm arising during childhood.	DOVES_relaxed.owl
MONDO:0021248	biolink:NamedThing	nervous system neoplasm	A neoplasm (disease) that involves the nervous system.	DOVES_relaxed.owl
MONDO:0021350	biolink:NamedThing	neoplasm of thorax	A neoplasm (disease) that involves the thoracic segment of trunk.	DOVES_relaxed.owl
MONDO:0021581	biolink:NamedThing	connective tissue neoplasm	Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.	DOVES_relaxed.owl
MONDO:0022609	biolink:NamedThing	bronchial adenomas/carcinoids childhood		DOVES_relaxed.owl
MONDO:0022986	biolink:NamedThing	diffuse idiopathic pulmonary neuroendocrine cell hyperplasia	A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor.	DOVES_relaxed.owl
MONDO:0023089	biolink:NamedThing	erythroplakia	A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma.	DOVES_relaxed.owl
MONDO:0035159	biolink:NamedThing	dermoid or epidermoid cyst of the central nervous system	A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.	DOVES_relaxed.owl
MONDO:0044334	biolink:NamedThing	connective and soft tissue neoplasm	A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue.	DOVES_relaxed.owl
MONDO:0700215	biolink:NamedThing	NTRK fusion positive cancer	Neoplasm defined by the expression of a Neurotrophic Tyrosine Receptor Kinase (NTRK) Fusion. NTRK fusion-positive tumors have been identified in a broad range of solid tumor types, including breast, cholangiocarcinoma, colorectal, gynecological, neuroendocrine, non-small cell lung, salivary gland, pancreatic, sarcoma and thyroid cancers.	DOVES_relaxed.owl
MONDO:0700216	biolink:NamedThing	RET fusion positive cancer	Neoplasm defined by the expression of a RET (REarranged during Transfection) fusion.	DOVES_relaxed.owl
MONDO:0021074	biolink:NamedThing	precancerous condition	A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia.	DOVES_relaxed.owl
MONDO:0020174	biolink:NamedThing	precancerous lesion of palpebral epidermis	A precancerous condition that involves the skin of eyelid.	DOVES_relaxed.owl
MONDO:0024474	biolink:NamedThing	intraepithelial neoplasia	A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia).	DOVES_relaxed.owl
MONDO:0043243	biolink:NamedThing	leukoplakia	A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.	DOVES_relaxed.owl
MONDO:0100190	biolink:NamedThing	gastric intestinal metaplasia	Metaplastic changes in the lining of the upper digestive tract.	DOVES_relaxed.owl
MONDO:0000612	biolink:NamedThing	lymphatic system cancer	A malignant neoplasm involving the lymphatic part of lymphoid system	DOVES_relaxed.owl
MONDO:0002571	biolink:NamedThing	primary central nervous system lymphoma	A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis.	DOVES_relaxed.owl
MONDO:0002586	biolink:NamedThing	thymus cancer	A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites.	DOVES_relaxed.owl
MONDO:0002756	biolink:NamedThing	solitary plasmacytoma of chest wall	A solitary plasmacytoma that arises from the chest wall.	DOVES_relaxed.owl
MONDO:0004685	biolink:NamedThing	Waldeyer's ring cancer	A malignant neoplasm involving the tonsillar ring.	DOVES_relaxed.owl
MONDO:0006117	biolink:NamedThing	breast diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma.	DOVES_relaxed.owl
MONDO:0006150	biolink:NamedThing	colon Burkitt lymphoma	A rare Burkitt lymphoma that arises from the colon.	DOVES_relaxed.owl
MONDO:0006158	biolink:NamedThing	colorectal diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma that arises from the colon or rectum.	DOVES_relaxed.owl
MONDO:0006225	biolink:NamedThing	gastric mantle cell lymphoma	A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course.	DOVES_relaxed.owl
MONDO:0006268	biolink:NamedThing	liver diffuse large B-cell lymphoma	A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver.	DOVES_relaxed.owl
MONDO:0006387	biolink:NamedThing	primary pulmonary diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis.	DOVES_relaxed.owl
MONDO:0006416	biolink:NamedThing	small intestinal Burkitt lymphoma	A Burkitt lymphoma that arises from the small intestine.	DOVES_relaxed.owl
MONDO:0006417	biolink:NamedThing	small intestinal diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma that arises from the small intestine.	DOVES_relaxed.owl
MONDO:0006462	biolink:NamedThing	thyroid gland diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma primarily involving the thyroid gland.	DOVES_relaxed.owl
MONDO:0009693	biolink:NamedThing	plasma cell myeloma	A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0015818	biolink:NamedThing	aggressive primary cutaneous B-cell lymphoma		DOVES_relaxed.owl
MONDO:0015819	biolink:NamedThing	indolent primary cutaneous B-cell lymphoma		DOVES_relaxed.owl
MONDO:0018223	biolink:NamedThing	systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood	Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype.	DOVES_relaxed.owl
MONDO:0019024	biolink:NamedThing	mast cell sarcoma	A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)	DOVES_relaxed.owl
MONDO:0005833	biolink:NamedThing	lymphatic system disorder	A disease involving the lymphatic part of lymphoid system.	DOVES_relaxed.owl
MONDO:0001112	biolink:NamedThing	bubonic plague	A plague in which the bacteria have infected the lymphatic system.	DOVES_relaxed.owl
MONDO:0002637	biolink:NamedThing	histiocytosis	A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes.	DOVES_relaxed.owl
MONDO:0002968	biolink:NamedThing	lymphocele	A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery.	DOVES_relaxed.owl
MONDO:0005832	biolink:NamedThing	lymphangitis	Inflammation of the lymphatic vessels.	DOVES_relaxed.owl
MONDO:0005834	biolink:NamedThing	lymphogranuloma venereum	Infection with the organism Mycobacterium.	DOVES_relaxed.owl
MONDO:0006840	biolink:NamedThing	lymphangiectasis	Dilatation of the lymphatic vessels.	DOVES_relaxed.owl
MONDO:0019297	biolink:NamedThing	lymphedema	Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes.	DOVES_relaxed.owl
MONDO:0043959	biolink:NamedThing	pseudolymphoma	A neoplastic process that resembles a malignant lymphoma, but has a benign course.	DOVES_relaxed.owl
MONDO:0000615	biolink:NamedThing	progesterone-receptor positive breast cancer		DOVES_relaxed.owl
MONDO:0006116	biolink:NamedThing	breast carcinoma by gene expression profile	A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma.	DOVES_relaxed.owl
MONDO:0000616	biolink:NamedThing	progesterone-receptor negative breast cancer		DOVES_relaxed.owl
MONDO:0000618	biolink:NamedThing	Her2-receptor negative breast cancer		DOVES_relaxed.owl
MONDO:0004990	biolink:NamedThing	breast tumor luminal A or B	Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells.	DOVES_relaxed.owl
MONDO:0006244	biolink:NamedThing	HER2 positive breast carcinoma	A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER).	DOVES_relaxed.owl
MONDO:0006324	biolink:NamedThing	normal breast-like subtype of breast carcinoma	A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues.	DOVES_relaxed.owl
MONDO:0006512	biolink:NamedThing	estrogen-receptor positive breast cancer	A subtype of breast cancer that is estrogen-receptor positive	DOVES_relaxed.owl
MONDO:0006513	biolink:NamedThing	estrogen-receptor negative breast cancer	A subtype of breast cancer that is estrogen-receptor negative	DOVES_relaxed.owl
MONDO:0000620	biolink:NamedThing	breast benign neoplasm	A non-metastasizing neoplasm arising from the breast parenchyma.	DOVES_relaxed.owl
MONDO:0002732	biolink:NamedThing	lung benign neoplasm	A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma.	DOVES_relaxed.owl
MONDO:0021450	biolink:NamedThing	benign neoplasm of heart	A benign neoplasm that involves the heart.	DOVES_relaxed.owl
MONDO:0021456	biolink:NamedThing	benign neoplasm of sternum	A benign neoplasm that involves the sternum.	DOVES_relaxed.owl
MONDO:0021459	biolink:NamedThing	benign neoplasm of esophagus	A benign neoplasm that involves the esophagus.	DOVES_relaxed.owl
MONDO:0021514	biolink:NamedThing	benign neoplasm of pericardium	A benign neoplasm that involves the pericardium.	DOVES_relaxed.owl
MONDO:0021521	biolink:NamedThing	benign neoplasm of mediastinum	A benign neoplasm that involves the mediastinum.	DOVES_relaxed.owl
MONDO:0021529	biolink:NamedThing	benign neoplasm of chest wall	A benign neoplasm that involves the chest wall.	DOVES_relaxed.owl
MONDO:0036781	biolink:NamedThing	benign axillary neoplasm	A non-metastasizing neoplasm that arises from the structures of the axilla.	DOVES_relaxed.owl
MONDO:0021100	biolink:NamedThing	breast neoplasm	A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males.	DOVES_relaxed.owl
MONDO:0002482	biolink:NamedThing	nipple neoplasm	A benign or malignant neoplasm that arises in the area of the nipple.	DOVES_relaxed.owl
MONDO:0002483	biolink:NamedThing	breast myoepithelial tumor	A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma.	DOVES_relaxed.owl
MONDO:0002485	biolink:NamedThing	breast neuroendocrine neoplasm	A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare.	DOVES_relaxed.owl
MONDO:0002487	biolink:NamedThing	breast granular cell tumor	A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm.	DOVES_relaxed.owl
MONDO:0002488	biolink:NamedThing	intraductal breast neoplasm	A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ.	DOVES_relaxed.owl
MONDO:0003411	biolink:NamedThing	breast hemangiopericytoma	A hemangiopericytoma arising from the breast.	DOVES_relaxed.owl
MONDO:0007254	biolink:NamedThing	breast cancer	A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males.	DOVES_relaxed.owl
MONDO:0015874	biolink:NamedThing	benign ductal tumor of breast		DOVES_relaxed.owl
MONDO:0021046	biolink:NamedThing	breast fibroepithelial neoplasm	A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor.	DOVES_relaxed.owl
MONDO:0000624	biolink:NamedThing	benign female reproductive system neoplasm	A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor.	DOVES_relaxed.owl
MONDO:0000625	biolink:NamedThing	benign male reproductive system neoplasm	A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor.	DOVES_relaxed.owl
MONDO:0000976	biolink:NamedThing	paratesticular lipoma	A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range.	DOVES_relaxed.owl
MONDO:0002110	biolink:NamedThing	adrenal rest tumor	A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia.	DOVES_relaxed.owl
MONDO:0011500	biolink:NamedThing	Becker nevus syndrome	Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual.	DOVES_relaxed.owl
MONDO:0024988	biolink:NamedThing	sex cord-stromal benign neoplasm	A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.	DOVES_relaxed.owl
MONDO:0002480	biolink:NamedThing	endometrioid tumor	A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.	DOVES_relaxed.owl
MONDO:0003031	biolink:NamedThing	endometrioid stromal and related neoplasms of the cervix	A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.	DOVES_relaxed.owl
MONDO:0010911	biolink:NamedThing	prolactin-producing pituitary gland adenoma	Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.	DOVES_relaxed.owl
MONDO:0021049	biolink:NamedThing	vulvar neoplasm	A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma.	DOVES_relaxed.owl
MONDO:0021050	biolink:NamedThing	vaginal neoplasm	A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma.	DOVES_relaxed.owl
MONDO:0021068	biolink:NamedThing	ovarian neoplasm	A benign, borderline, or malignant neoplasm involving the ovary.	DOVES_relaxed.owl
MONDO:0021092	biolink:NamedThing	fallopian tube neoplasm	A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma.	DOVES_relaxed.owl
MONDO:0037742	biolink:NamedThing	endometrioid stromal and related neoplasms	A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites.	DOVES_relaxed.owl
MONDO:0001495	biolink:NamedThing	hematocele of tunica vaginalis testis	Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele.	DOVES_relaxed.owl
MONDO:0001496	biolink:NamedThing	male genital organ stricture		DOVES_relaxed.owl
MONDO:0001497	biolink:NamedThing	male genital organ vascular disease		DOVES_relaxed.owl
MONDO:0002036	biolink:NamedThing	penile disorder	A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma.	DOVES_relaxed.owl
MONDO:0003105	biolink:NamedThing	prostate disorder	A disease involving the prostate gland.	DOVES_relaxed.owl
MONDO:0004920	biolink:NamedThing	hydrocele		DOVES_relaxed.owl
MONDO:0005372	biolink:NamedThing	male infertility	The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.	DOVES_relaxed.owl
MONDO:0006977	biolink:NamedThing	spermatocele	A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris.	DOVES_relaxed.owl
MONDO:0015933	biolink:NamedThing	non-syndromic urogenital tract malformation of male	A non-syndromic urogenital tract malformation that involves the male organism.	DOVES_relaxed.owl
MONDO:0017213	biolink:NamedThing	postorgasmic illness syndrome	A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS.	DOVES_relaxed.owl
MONDO:0045003	biolink:NamedThing	scrotal disorder	A disease or disorder that involves the scrotum.	DOVES_relaxed.owl
MONDO:0000626	biolink:NamedThing	vestibular gland benign neoplasm	A benign neoplasm that involves the vestibular gland.	DOVES_relaxed.owl
MONDO:0000643	biolink:NamedThing	vulvar benign neoplasm	A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma.	DOVES_relaxed.owl
MONDO:0002188	biolink:NamedThing	vulvar nodular hidradenoma	A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm.	DOVES_relaxed.owl
MONDO:0002190	biolink:NamedThing	vulvar syringoma	A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis.	DOVES_relaxed.owl
MONDO:0002192	biolink:NamedThing	vulvar angiokeratoma	An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis.	DOVES_relaxed.owl
MONDO:0002194	biolink:NamedThing	vestibular papilloma	A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia.	DOVES_relaxed.owl
MONDO:0002199	biolink:NamedThing	benign mixed tumor of the vulva	A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended.	DOVES_relaxed.owl
MONDO:0002201	biolink:NamedThing	vulvar trichoepithelioma	A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin.	DOVES_relaxed.owl
MONDO:0003298	biolink:NamedThing	vulvar leiomyoma	A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0005197	biolink:NamedThing	thymus neoplasm	A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma.	DOVES_relaxed.owl
MONDO:0006036	biolink:NamedThing	granulosa cell tumor	A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms.	DOVES_relaxed.owl
MONDO:0015074	biolink:NamedThing	thyroid tumor	A benign or malignant neoplasm affecting the thyroid gland.	DOVES_relaxed.owl
MONDO:0017611	biolink:NamedThing	pituitary tumor	A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland.	DOVES_relaxed.owl
MONDO:0019496	biolink:NamedThing	neuroendocrine neoplasm	Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion).	DOVES_relaxed.owl
MONDO:0021119	biolink:NamedThing	non-functioning endocrine neoplasm	A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome.	DOVES_relaxed.owl
MONDO:0021120	biolink:NamedThing	functioning endocrine neoplasm	A hormone producing endocrine neoplasm, associated with a hormonal syndrome.	DOVES_relaxed.owl
MONDO:0021227	biolink:NamedThing	adrenal gland neoplasm	A neoplasm (disease) that involves the adrenal gland.	DOVES_relaxed.owl
MONDO:0021232	biolink:NamedThing	pineal body neoplasm	A neoplasm (disease) that involves the pineal body.	DOVES_relaxed.owl
MONDO:0021360	biolink:NamedThing	tumor of parathyroid gland	A neoplasm (disease) that involves the parathyroid gland.	DOVES_relaxed.owl
MONDO:0000628	biolink:NamedThing	central nervous system organ benign neoplasm	A benign neoplasm that involves the central nervous system.	DOVES_relaxed.owl
MONDO:0000633	biolink:NamedThing	sensory organ benign neoplasm	A benign neoplasm that involves the sense organ.	DOVES_relaxed.owl
MONDO:0000638	biolink:NamedThing	benign glioma	A form of glioma without malignant characteristics.	DOVES_relaxed.owl
MONDO:0007154	biolink:NamedThing	arteriovenous malformations of the brain	Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.	DOVES_relaxed.owl
MONDO:0009578	biolink:NamedThing	neurocutaneous melanocytosis	Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.	DOVES_relaxed.owl
MONDO:0015405	biolink:NamedThing	cerebrofacial arteriovenous metameric syndrome	A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region.	DOVES_relaxed.owl
MONDO:0016748	biolink:NamedThing	hemangioblastoma	Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.	DOVES_relaxed.owl
MONDO:0017317	biolink:NamedThing	phakomatosis pigmentokeratotica	Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.	DOVES_relaxed.owl
MONDO:0019196	biolink:NamedThing	Foix-Alajouanine syndrome	Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years.	DOVES_relaxed.owl
MONDO:0019972	biolink:NamedThing	dural sinus malformation		DOVES_relaxed.owl
MONDO:0002640	biolink:NamedThing	optic nerve neoplasm	Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disc of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas.	DOVES_relaxed.owl
MONDO:0002714	biolink:NamedThing	central nervous system cancer	A malignant neoplasm involving the central nervous system	DOVES_relaxed.owl
MONDO:0003000	biolink:NamedThing	central nervous system germ cell tumor	A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.	DOVES_relaxed.owl
MONDO:0003641	biolink:NamedThing	central nervous system hematopoietic neoplasm	A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias.	DOVES_relaxed.owl
MONDO:0005752	biolink:NamedThing	epidural abscess	Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)	DOVES_relaxed.owl
MONDO:0016743	biolink:NamedThing	tumor of meninges	A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions.	DOVES_relaxed.owl
MONDO:0021234	biolink:NamedThing	spinal cord neoplasm	A neoplasm (disease) that involves the spinal cord.	DOVES_relaxed.owl
MONDO:0021381	biolink:NamedThing	neoplasm of pericardium	A neoplasm (disease) that involves the pericardium.	DOVES_relaxed.owl
MONDO:0024296	biolink:NamedThing	vascular neoplasm	A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells.	DOVES_relaxed.owl
MONDO:0000654	biolink:NamedThing	benign connective and soft tissue neoplasm	A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma.	DOVES_relaxed.owl
MONDO:0044335	biolink:NamedThing	benign soft tissue neoplasm	A non-metastasizing neoplasm that arises from the soft tissue.	DOVES_relaxed.owl
MONDO:0044983	biolink:NamedThing	benign lipomatous neoplasm	A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma.	DOVES_relaxed.owl
MONDO:0045052	biolink:NamedThing	benign osteogenic neoplasm	A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma.	DOVES_relaxed.owl
MONDO:0019060	biolink:NamedThing	bone neoplasm	A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.	DOVES_relaxed.owl
MONDO:0002597	biolink:NamedThing	notochordal tumor	A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor.	DOVES_relaxed.owl
MONDO:0007767	biolink:NamedThing	hyperparathyroidism 1		DOVES_relaxed.owl
MONDO:0007768	biolink:NamedThing	hyperparathyroidism 2 with jaw tumors	An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.	DOVES_relaxed.owl
MONDO:0009397	biolink:NamedThing	neonatal severe primary hyperparathyroidism	Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.	DOVES_relaxed.owl
MONDO:0012406	biolink:NamedThing	hyperparathyroidism 3		DOVES_relaxed.owl
MONDO:0016071	biolink:NamedThing	juvenile hyaline fibromatosis	Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis.	DOVES_relaxed.owl
MONDO:0018815	biolink:NamedThing	aneurysmal bone cyst	A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage.	DOVES_relaxed.owl
MONDO:0019372	biolink:NamedThing	solitary bone cyst	A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.	DOVES_relaxed.owl
MONDO:0021123	biolink:NamedThing	Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone	A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.	DOVES_relaxed.owl
MONDO:0021579	biolink:NamedThing	neoplasm of femur	A neoplasm (disease) that involves the femur.	DOVES_relaxed.owl
MONDO:0024499	biolink:NamedThing	vascular bone neoplasm	A benign, intermediate, or malignant vascular neoplasm that arises from the bone.	DOVES_relaxed.owl
MONDO:0024570	biolink:NamedThing	hyperparathyroidism 4	Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.	DOVES_relaxed.owl
MONDO:0024653	biolink:NamedThing	skull neoplasm	A benign or malignant neoplasm that affects the bones and structures of the skull.	DOVES_relaxed.owl
MONDO:0060714	biolink:NamedThing	tumoral calcinosis, hyperphosphatemic, familial, 2		DOVES_relaxed.owl
MONDO:0060715	biolink:NamedThing	tumoral calcinosis, hyperphosphatemic, familial, 3		DOVES_relaxed.owl
MONDO:0100252	biolink:NamedThing	tumoral calcinosis, hyperphosphatemic, familial, 1		DOVES_relaxed.owl
MONDO:0000632	biolink:NamedThing	uterine benign neoplasm	A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp.	DOVES_relaxed.owl
MONDO:0000645	biolink:NamedThing	fallopian tube benign neoplasm	A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma.	DOVES_relaxed.owl
MONDO:0000646	biolink:NamedThing	ovarian benign neoplasm	A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma.	DOVES_relaxed.owl
MONDO:0000647	biolink:NamedThing	benign vaginal neoplasm	A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus.	DOVES_relaxed.owl
MONDO:0005635	biolink:NamedThing	adenomyoma	A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy.	DOVES_relaxed.owl
MONDO:0006071	biolink:NamedThing	adenofibroma	A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported.	DOVES_relaxed.owl
MONDO:0002715	biolink:NamedThing	uterine cancer	Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix.	DOVES_relaxed.owl
MONDO:0021218	biolink:NamedThing	placenta neoplasm	A neoplasm (disease) that involves the placenta.	DOVES_relaxed.owl
MONDO:0021230	biolink:NamedThing	uterine cervix neoplasm	A neoplasm (disease) that involves the uterine cervix.	DOVES_relaxed.owl
MONDO:0021251	biolink:NamedThing	endometrium neoplasm	A neoplasm (disease) that involves the endometrium.	DOVES_relaxed.owl
MONDO:0021254	biolink:NamedThing	corpus uteri neoplasm	A neoplasm (disease) that involves the body of uterus.	DOVES_relaxed.owl
MONDO:0021386	biolink:NamedThing	neoplasm of mediastinum	A neoplasm (disease) that involves the mediastinum.	DOVES_relaxed.owl
MONDO:0021388	biolink:NamedThing	neoplasm of chest wall	A neoplasm (disease) that involves the chest wall.	DOVES_relaxed.owl
MONDO:0021389	biolink:NamedThing	neoplasm of aortic body	A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels.	DOVES_relaxed.owl
MONDO:0036779	biolink:NamedThing	axillary neoplasm	A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes.	DOVES_relaxed.owl
MONDO:0021042	biolink:NamedThing	glioma	A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas.	DOVES_relaxed.owl
MONDO:0003266	biolink:NamedThing	ependymal tumor	A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)	DOVES_relaxed.owl
MONDO:0003268	biolink:NamedThing	mixed glioma	A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes).	DOVES_relaxed.owl
MONDO:0016167	biolink:NamedThing	optic pathway glioma	Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1).	DOVES_relaxed.owl
MONDO:0016707	biolink:NamedThing	astroblastoma	Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.	DOVES_relaxed.owl
MONDO:0021636	biolink:NamedThing	astrocytic tumor	A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.	DOVES_relaxed.owl
MONDO:0021637	biolink:NamedThing	low grade glioma	A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma.	DOVES_relaxed.owl
MONDO:0021639	biolink:NamedThing	grade II glioma	A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma.	DOVES_relaxed.owl
MONDO:0021640	biolink:NamedThing	grade III glioma	A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma.	DOVES_relaxed.owl
MONDO:0100342	biolink:NamedThing	malignant glioma	A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma.	DOVES_relaxed.owl
MONDO:0000640	biolink:NamedThing	central nervous system primitive neuroectodermal neoplasm	A neuroectodermal tumor that involves the central nervous system.	DOVES_relaxed.owl
MONDO:0001657	biolink:NamedThing	brain cancer	A primary or metastatic malignant neoplasm affecting the brain.	DOVES_relaxed.owl
MONDO:0002217	biolink:NamedThing	central nervous system sarcoma	A sarcoma that arises from the central nervous system.	DOVES_relaxed.owl
MONDO:0002999	biolink:NamedThing	central nervous system germinoma	A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0003222	biolink:NamedThing	central nervous system melanocytic neoplasm	A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion.	DOVES_relaxed.owl
MONDO:0003401	biolink:NamedThing	central nervous system endodermal sinus tumor	A yolk sac tumor that arises from the central nervous system and occurs during childhood.	DOVES_relaxed.owl
MONDO:0003544	biolink:NamedThing	spinal cord cancer	A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma.	DOVES_relaxed.owl
MONDO:0004650	biolink:NamedThing	malignant carotid body paraganglioma	A carotid body paraganglioma that metastasizes to other anatomic sites.	DOVES_relaxed.owl
MONDO:0006291	biolink:NamedThing	malignant jugulotympanic paraganglioma	A jugulotympanic paraganglioma that metastasizes to other anatomic sites.	DOVES_relaxed.owl
MONDO:0007273	biolink:NamedThing	paragangliomas 4	Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene.	DOVES_relaxed.owl
MONDO:0011121	biolink:NamedThing	paragangliomas 2	Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene.	DOVES_relaxed.owl
MONDO:0013602	biolink:NamedThing	paragangliomas 5	Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene.	DOVES_relaxed.owl
MONDO:0016713	biolink:NamedThing	central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor	A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone.	DOVES_relaxed.owl
MONDO:0016740	biolink:NamedThing	choriocarcinoma of the central nervous system	A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO)	DOVES_relaxed.owl
MONDO:0016742	biolink:NamedThing	mixed germ cell tumor of central nervous system	A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia.	DOVES_relaxed.owl
MONDO:0018843	biolink:NamedThing	embryonal carcinoma of the central nervous system	A embryonal carcinoma that involves the central nervous system.	DOVES_relaxed.owl
MONDO:0021322	biolink:NamedThing	malignant tumor of meninges	A cancer that involves the meningeal cluster.	DOVES_relaxed.owl
MONDO:0037740	biolink:NamedThing	malignant central nervous system mesenchymal, non-meningothelial neoplasm	A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system.	DOVES_relaxed.owl
MONDO:0005462	biolink:NamedThing	primitive neuroectodermal tumor	A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors.	DOVES_relaxed.owl
MONDO:0002072	biolink:NamedThing	melanotic neuroectodermal tumor	A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course.	DOVES_relaxed.owl
MONDO:0006316	biolink:NamedThing	neuroblastic tumor	A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells.	DOVES_relaxed.owl
MONDO:0016263	biolink:NamedThing	primitive neuroectodermal tumor of the corpus uteri	A primitive neuroectodermal tumor that involves the body of uterus.	DOVES_relaxed.owl
MONDO:0018271	biolink:NamedThing	peripheral primitive neuroectodermal tumor	A small round cell tumor with neural differentiation arising from the soft tissues or bone.	DOVES_relaxed.owl
MONDO:0000642	biolink:NamedThing	brain meningioma	A meningioma (disease) that involves the brain.	DOVES_relaxed.owl
MONDO:0016642	biolink:NamedThing	meningioma	A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0001279	biolink:NamedThing	intraspinal meningioma	A meningioma that arises from the spinal meninges.	DOVES_relaxed.owl
MONDO:0002888	biolink:NamedThing	intraorbital meningioma	A meningioma that affects the intraorbital structures.	DOVES_relaxed.owl
MONDO:0002918	biolink:NamedThing	clear cell meningioma	A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells.	DOVES_relaxed.owl
MONDO:0002919	biolink:NamedThing	posterior cranial fossa meningioma	A meningioma that affects the posterior cranial fossa.	DOVES_relaxed.owl
MONDO:0002997	biolink:NamedThing	anterior cranial fossa meningioma	A meningioma that affects the anterior cranial fossa.	DOVES_relaxed.owl
MONDO:0002998	biolink:NamedThing	skull base meningioma	A meningioma that arises from the skull base.	DOVES_relaxed.owl
MONDO:0003054	biolink:NamedThing	benign meningioma	A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection.	DOVES_relaxed.owl
MONDO:0003055	biolink:NamedThing	secretory meningioma	A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen.	DOVES_relaxed.owl
MONDO:0003056	biolink:NamedThing	lymphoplasmacyte-rich meningioma	A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells.	DOVES_relaxed.owl
MONDO:0003057	biolink:NamedThing	pediatric meningioma	A meningioma that occurs during childhood.	DOVES_relaxed.owl
MONDO:0003058	biolink:NamedThing	microcystic meningioma	A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid.	DOVES_relaxed.owl
MONDO:0003121	biolink:NamedThing	middle cranial fossa meningioma	A meningioma that affects the middle cranial fossa.	DOVES_relaxed.owl
MONDO:0003262	biolink:NamedThing	rhabdoid meningioma	A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets.	DOVES_relaxed.owl
MONDO:0003557	biolink:NamedThing	optic nerve sheath meningioma	A meningioma that affects the sheath of the optic nerve.	DOVES_relaxed.owl
MONDO:0003638	biolink:NamedThing	lung meningioma	A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas.	DOVES_relaxed.owl
MONDO:0003762	biolink:NamedThing	malignant leptomeningeal tumor	A primary or metastatic malignant tumor involving the leptomeninges.	DOVES_relaxed.owl
MONDO:0003771	biolink:NamedThing	jugular foramen meningioma	A meningioma that affects the jugular foramen.	DOVES_relaxed.owl
MONDO:0003918	biolink:NamedThing	angiomatous meningioma	A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells.	DOVES_relaxed.owl
MONDO:0004143	biolink:NamedThing	psammomatous meningioma	A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells.	DOVES_relaxed.owl
MONDO:0004144	biolink:NamedThing	fibrous meningioma	A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix.	DOVES_relaxed.owl
MONDO:0004145	biolink:NamedThing	meningothelial meningioma	A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present.	DOVES_relaxed.owl
MONDO:0004146	biolink:NamedThing	transitional meningioma	A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns.	DOVES_relaxed.owl
MONDO:0004238	biolink:NamedThing	petrous apex meningioma	A meningioma that affects the petrous apex.	DOVES_relaxed.owl
MONDO:0004313	biolink:NamedThing	gasserian ganglion meningioma	A meningioma that affects the trigeminal ganglion.	DOVES_relaxed.owl
MONDO:0004429	biolink:NamedThing	skin meningioma	A meningioma (disease) that involves the zone of skin.	DOVES_relaxed.owl
MONDO:0004439	biolink:NamedThing	periocular meningioma	A meningioma that affects the periocular region.	DOVES_relaxed.owl
MONDO:0004502	biolink:NamedThing	parapharyngeal meningioma		DOVES_relaxed.owl
MONDO:0011648	biolink:NamedThing	radiation-induced meningioma		DOVES_relaxed.owl
MONDO:0020634	biolink:NamedThing	grade III meningioma	A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma.	DOVES_relaxed.owl
MONDO:0021088	biolink:NamedThing	papillary meningioma	A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern.	DOVES_relaxed.owl
MONDO:0045056	biolink:NamedThing	grade II meningioma	An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma.	DOVES_relaxed.owl
MONDO:0002553	biolink:NamedThing	cerebellopontine angle tumor	A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma.	DOVES_relaxed.owl
MONDO:0002722	biolink:NamedThing	olfactory nerve neoplasm	Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell.	DOVES_relaxed.owl
MONDO:0005505	biolink:NamedThing	dysembryoplastic neuroepithelial tumor	A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B	DOVES_relaxed.owl
MONDO:0006799	biolink:NamedThing	hypothalamic neoplasm	A primary or metastatic neoplasm that affects the hypothalamus.	DOVES_relaxed.owl
MONDO:0016717	biolink:NamedThing	choroid plexus neoplasm	An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma.	DOVES_relaxed.owl
MONDO:0021374	biolink:NamedThing	neoplasm of cerebral hemisphere	A neoplasm involving a cerebral hemisphere.	DOVES_relaxed.owl
MONDO:0021451	biolink:NamedThing	benign neoplasm of brain	A benign neoplasm that involves the brain.	DOVES_relaxed.owl
MONDO:0021632	biolink:NamedThing	primary brain neoplasm		DOVES_relaxed.owl
MONDO:0037736	biolink:NamedThing	infratentorial neoplasm	A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli.	DOVES_relaxed.owl
MONDO:0001528	biolink:NamedThing	vulva cancer	A primary or metastatic malignant neoplasm involving the vulva.	DOVES_relaxed.owl
MONDO:0002195	biolink:NamedThing	vulvar squamous neoplasm	A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma.	DOVES_relaxed.owl
MONDO:0002219	biolink:NamedThing	paraurethral gland neoplasm	A neoplasm (disease) that involves the paraurethral gland.	DOVES_relaxed.owl
MONDO:0003253	biolink:NamedThing	vulvar granular cell tumor	A usually benign granular cell tumor that arises from the vulva.	DOVES_relaxed.owl
MONDO:0020650	biolink:NamedThing	germ cell tumor of the vulva		DOVES_relaxed.owl
MONDO:0024877	biolink:NamedThing	clitoris neoplasm	A neoplasm involving a clitoris.	DOVES_relaxed.owl
MONDO:0000644	biolink:NamedThing	cervical benign neoplasm	A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma.	DOVES_relaxed.owl
MONDO:0003702	biolink:NamedThing	uterus intravascular leiomyomatosis	A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma.	DOVES_relaxed.owl
MONDO:0021471	biolink:NamedThing	benign neoplasm of endometrium	A benign neoplasm that involves the endometrium.	DOVES_relaxed.owl
MONDO:0021498	biolink:NamedThing	benign neoplasm of placenta	A benign neoplasm that involves the placenta.	DOVES_relaxed.owl
MONDO:0021525	biolink:NamedThing	benign neoplasm of corpus uteri	A benign neoplasm that involves the body of uterus.	DOVES_relaxed.owl
MONDO:0002974	biolink:NamedThing	cervical cancer	A primary or metastatic malignant neoplasm involving the cervix.	DOVES_relaxed.owl
MONDO:0006313	biolink:NamedThing	nabothian cyst	A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium.	DOVES_relaxed.owl
MONDO:0021629	biolink:NamedThing	uterine ligament neoplasm	A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma.	DOVES_relaxed.owl
MONDO:0042491	biolink:NamedThing	cervical squamous intraepithelial neoplasia	A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures.	DOVES_relaxed.owl
MONDO:0002158	biolink:NamedThing	fallopian tube cancer	A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma.	DOVES_relaxed.owl
MONDO:0002745	biolink:NamedThing	fallopian tube mucinous tumor	A rare borderline or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract.	DOVES_relaxed.owl
MONDO:0003392	biolink:NamedThing	fallopian tube germ cell tumor	A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas.	DOVES_relaxed.owl
MONDO:0021576	biolink:NamedThing	fallopian tube endometrioid tumor	A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.	DOVES_relaxed.owl
MONDO:0002229	biolink:NamedThing	ovarian epithelial tumor	A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor.	DOVES_relaxed.owl
MONDO:0003192	biolink:NamedThing	rete ovarii neoplasm	A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma.	DOVES_relaxed.owl
MONDO:0003312	biolink:NamedThing	ovarian endometrioid stromal and related neoplasms	A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.	DOVES_relaxed.owl
MONDO:0008170	biolink:NamedThing	ovarian cancer	A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.	DOVES_relaxed.owl
MONDO:0011366	biolink:NamedThing	ovarian germ cell tumor	A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma.	DOVES_relaxed.owl
MONDO:0021657	biolink:NamedThing	ovarian sex cord-stromal tumor	A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor.	DOVES_relaxed.owl
MONDO:0001402	biolink:NamedThing	vaginal cancer	A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas.	DOVES_relaxed.owl
MONDO:0001806	biolink:NamedThing	vaginal squamous tumor	A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma.	DOVES_relaxed.owl
MONDO:0003314	biolink:NamedThing	endometrioid stromal and related neoplasms of the vagina	A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.	DOVES_relaxed.owl
MONDO:0006489	biolink:NamedThing	vaginal melanoma	A primary malignant neoplasm of the vagina composed of malignant melanocytes.	DOVES_relaxed.owl
MONDO:0022607	biolink:NamedThing	extraovarian Brenner tumor of the vagina	A Brenner tumor that involves the vagina.	DOVES_relaxed.owl
MONDO:0007116	biolink:NamedThing	hereditary neurocutaneous angioma	Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0016738	biolink:NamedThing	primary germ cell tumor of central nervous system		DOVES_relaxed.owl
MONDO:0016749	biolink:NamedThing	tumor of cranial and spinal nerves		DOVES_relaxed.owl
MONDO:0020497	biolink:NamedThing	Turcot syndrome with polyposis	Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.	DOVES_relaxed.owl
MONDO:0021193	biolink:NamedThing	neuroepithelial neoplasm	A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors.	DOVES_relaxed.owl
MONDO:0021231	biolink:NamedThing	retina neoplasm	A neoplasm (disease) that involves the retina.	DOVES_relaxed.owl
MONDO:0000649	biolink:NamedThing	sensory system cancer	A malignant neoplasm involving the sensory system	DOVES_relaxed.owl
MONDO:0002855	biolink:NamedThing	ectomesenchymoma	An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component.	DOVES_relaxed.owl
MONDO:0006076	biolink:NamedThing	adrenal gland neuroblastoma	A neuroblastoma arising from the adrenal gland.	DOVES_relaxed.owl
MONDO:0016739	biolink:NamedThing	yolk sac tumor of central nervous system	A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO)	DOVES_relaxed.owl
MONDO:0021089	biolink:NamedThing	peripheral nervous system cancer	Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location	DOVES_relaxed.owl
MONDO:0006362	biolink:NamedThing	peritoneal mesothelioma	A benign or malignant mesothelial neoplasm that arises from the peritoneum.	DOVES_relaxed.owl
MONDO:0037737	biolink:NamedThing	peritoneal solitary fibrous tumor	A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels.	DOVES_relaxed.owl
MONDO:0003061	biolink:NamedThing	benign muscle neoplasm	A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue.	DOVES_relaxed.owl
MONDO:0020582	biolink:NamedThing	benign uterine ligament neoplasm	A non-metastasizing neoplasm that arises from the uterine ligament.	DOVES_relaxed.owl
MONDO:0021491	biolink:NamedThing	benign neoplasm of gum	A benign neoplasm that involves the gingiva.	DOVES_relaxed.owl
MONDO:0003900	biolink:NamedThing	connective tissue disorder	A disease involving the connective tissue.	DOVES_relaxed.owl
MONDO:0002400	biolink:NamedThing	synovitis	Inflammation of a synovial membrane.	DOVES_relaxed.owl
MONDO:0004603	biolink:NamedThing	collagenopathy		DOVES_relaxed.owl
MONDO:0004902	biolink:NamedThing	interstitial keratitis		DOVES_relaxed.owl
MONDO:0005554	biolink:NamedThing	rheumatic disorder	Inflammatory and degenerative diseases of connective tissue structures, such as arthritis.	DOVES_relaxed.owl
MONDO:0007074	biolink:NamedThing	ainhum	Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation.	DOVES_relaxed.owl
MONDO:0018301	biolink:NamedThing	interstitial cystitis	A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain.	DOVES_relaxed.owl
MONDO:0006424	biolink:NamedThing	soft tissue neoplasm	A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.	DOVES_relaxed.owl
MONDO:0000659	biolink:NamedThing	delta-heavy chain disease	A heavy chain disease that results from an overproduction of delta antibody (IgD).	DOVES_relaxed.owl
MONDO:0019464	biolink:NamedThing	heavy chain disease	Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.	DOVES_relaxed.owl
MONDO:0015044	biolink:NamedThing	mu-heavy chain disease	Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).	DOVES_relaxed.owl
MONDO:0015045	biolink:NamedThing	alpha-heavy chain disease	Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.	DOVES_relaxed.owl
MONDO:0015046	biolink:NamedThing	gamma-heavy chain disease	Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.	DOVES_relaxed.owl
MONDO:0024285	biolink:NamedThing	epsilon-heavy chain disease		DOVES_relaxed.owl
MONDO:0000660	biolink:NamedThing	akinetopsia	An agnosia that is a loss of motion perception.	DOVES_relaxed.owl
MONDO:0005638	biolink:NamedThing	agnosia	A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes.	DOVES_relaxed.owl
MONDO:0000661	biolink:NamedThing	alexithymia	An agnosia that is a deficiency in understanding, processing, or describing emotions.	DOVES_relaxed.owl
MONDO:0000662	biolink:NamedThing	amusia	An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.	DOVES_relaxed.owl
MONDO:0000663	biolink:NamedThing	anosognosia	An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.	DOVES_relaxed.owl
MONDO:0000667	biolink:NamedThing	auditory agnosia	An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.	DOVES_relaxed.owl
MONDO:0000668	biolink:NamedThing	autotopagnosia	An agnosia that is a loss of the ability to orient parts of the body.	DOVES_relaxed.owl
MONDO:0000671	biolink:NamedThing	finger agnosia	An agnosia characterized by an inabilty to distinguish, name, or recognize the fingers	DOVES_relaxed.owl
MONDO:0000673	biolink:NamedThing	integrative agnosia	Agnosia characterized by the inability to integrate perceptual wholes within knowledge.	DOVES_relaxed.owl
MONDO:0000674	biolink:NamedThing	mirror agnosia	An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.	DOVES_relaxed.owl
MONDO:0000675	biolink:NamedThing	pain agnosia	Loss of the ability to perceive and process pain.	DOVES_relaxed.owl
MONDO:0000676	biolink:NamedThing	phonagnosia	An agnosia that is a loss of the ability to recognize familiar voices.	DOVES_relaxed.owl
MONDO:0000677	biolink:NamedThing	semantic agnosia	An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object.	DOVES_relaxed.owl
MONDO:0000678	biolink:NamedThing	simultanagnosia	An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.	DOVES_relaxed.owl
MONDO:0000679	biolink:NamedThing	social emotional agnosia	An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.	DOVES_relaxed.owl
MONDO:0000680	biolink:NamedThing	astereognosia	An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.	DOVES_relaxed.owl
MONDO:0000681	biolink:NamedThing	tactile agnosia	An agnosia that is a loss of the ability to recognize or identify objects by touch alone.	DOVES_relaxed.owl
MONDO:0000682	biolink:NamedThing	time agnosia	An agnosia that is a loss of the ability to comprehend the succession and duration of events.	DOVES_relaxed.owl
MONDO:0000685	biolink:NamedThing	visual agnosia	An inability to recognize or interpret objects by sight.	DOVES_relaxed.owl
MONDO:0003227	biolink:NamedThing	prosopagnosia	Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury.	DOVES_relaxed.owl
MONDO:0019056	biolink:NamedThing	neuromuscular disease	Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions	DOVES_relaxed.owl
MONDO:0002643	biolink:NamedThing	vestibular disorder	Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls.	DOVES_relaxed.owl
MONDO:0012714	biolink:NamedThing	early-onset myopathy with fatal cardiomyopathy		DOVES_relaxed.owl
MONDO:0019119	biolink:NamedThing	muscular channelopathy	A channelopathy that involves the muscle tissue.	DOVES_relaxed.owl
MONDO:0020124	biolink:NamedThing	neuromuscular junction disease	Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.	DOVES_relaxed.owl
MONDO:0000664	biolink:NamedThing	apperceptive agnosia	An agnosia that is a loss of the ability to distinguish visual shapes.	DOVES_relaxed.owl
MONDO:0000666	biolink:NamedThing	associative visual agnosia	An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.	DOVES_relaxed.owl
MONDO:0000669	biolink:NamedThing	color agnosia	An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.	DOVES_relaxed.owl
MONDO:0000672	biolink:NamedThing	form agnosia	An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.	DOVES_relaxed.owl
MONDO:0000683	biolink:NamedThing	topographical agnosia	An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects.	DOVES_relaxed.owl
MONDO:0000686	biolink:NamedThing	alexia without agraphia	Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483)	DOVES_relaxed.owl
MONDO:0001712	biolink:NamedThing	alexia	A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases.	DOVES_relaxed.owl
MONDO:0000665	biolink:NamedThing	apraxia	Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition.	DOVES_relaxed.owl
MONDO:0024417	biolink:NamedThing	perceptual disorders	Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.	DOVES_relaxed.owl
MONDO:0021084	biolink:NamedThing	vision disorder	Any impairment to the vision.	DOVES_relaxed.owl
MONDO:0021945	biolink:NamedThing	hearing disorder	A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear.	DOVES_relaxed.owl
MONDO:0024430	biolink:NamedThing	allesthesia	A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus.	DOVES_relaxed.owl
MONDO:0100125	biolink:NamedThing	hallucinogen-persisting perception disorder	A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses.	DOVES_relaxed.owl
MONDO:0024422	biolink:NamedThing	auditory perceptual disorders	Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech.	DOVES_relaxed.owl
MONDO:0043303	biolink:NamedThing	hyperacusis	A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds.	DOVES_relaxed.owl
MONDO:0000670	biolink:NamedThing	cortical deafness	An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.	DOVES_relaxed.owl
MONDO:0000684	biolink:NamedThing	verbal auditory agnosia	An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.	DOVES_relaxed.owl
MONDO:0001020	biolink:NamedThing	amblyopia	Decreased vision that results from abnormal visual development.	DOVES_relaxed.owl
MONDO:0001564	biolink:NamedThing	binocular vision disease	Any inability to efficiently utilize and/or sustain binocular vision.	DOVES_relaxed.owl
MONDO:0001941	biolink:NamedThing	blindness (disorder)	The lack of vision. It is caused by neurological or physiological factors.	DOVES_relaxed.owl
MONDO:0019118	biolink:NamedThing	inherited retinal dystrophy	An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0000687	biolink:NamedThing	diffuse alopecia areata	An alopecia areata that involves diffuse loss of hair over the whole scalp.	DOVES_relaxed.owl
MONDO:0005340	biolink:NamedThing	alopecia areata	Loss of scalp and body hair involving microscopically inflammatory patchy areas.	DOVES_relaxed.owl
MONDO:0007082	biolink:NamedThing	alopecia areata 1		DOVES_relaxed.owl
MONDO:0000690	biolink:NamedThing	body dysmorphic disorder	Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning.	DOVES_relaxed.owl
MONDO:0001315	biolink:NamedThing	neurocirculatory asthenia	A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder.	DOVES_relaxed.owl
MONDO:0001596	biolink:NamedThing	hypochondriasis	A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis.	DOVES_relaxed.owl
MONDO:0001830	biolink:NamedThing	somatization disorder	Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)	DOVES_relaxed.owl
MONDO:0002104	biolink:NamedThing	conversion disorder	Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve.	DOVES_relaxed.owl
MONDO:0024316	biolink:NamedThing	physiological malfunction arising from mental factor	A dysfunction in biological function that is due to a psychological process.	DOVES_relaxed.owl
MONDO:0000693	biolink:NamedThing	bipolar II disorder	A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.	DOVES_relaxed.owl
MONDO:0004985	biolink:NamedThing	bipolar disorder	A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression.	DOVES_relaxed.owl
MONDO:0001866	biolink:NamedThing	bipolar I disorder	A bipolar disorder that is characterized by at least one manic or mixed episode.	DOVES_relaxed.owl
MONDO:0024612	biolink:NamedThing	manic bipolar affective disorder	The manic phase of bipolar disorder.	DOVES_relaxed.owl
MONDO:0024613	biolink:NamedThing	bipolar depression	The depressive stage of bipolar disorder.	DOVES_relaxed.owl
MONDO:0000694	biolink:NamedThing	seasonal affective disorder	A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence.	DOVES_relaxed.owl
MONDO:0002050	biolink:NamedThing	depressive disorder	A melancholy feeling of sadness and despair.	DOVES_relaxed.owl
MONDO:0002009	biolink:NamedThing	major depressive disorder	An episode of depression lasting two or more weeks without an intervening episode of mania.	DOVES_relaxed.owl
MONDO:0002444	biolink:NamedThing	melancholia	A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite.	DOVES_relaxed.owl
MONDO:0005929	biolink:NamedThing	postpartum depression	A type of clinical depression that occurs after childbirth.	DOVES_relaxed.owl
MONDO:0024614	biolink:NamedThing	neurotic depression	A term used for any state of depression that is not psychotic.	DOVES_relaxed.owl
MONDO:0041086	biolink:NamedThing	mixed anxiety and depressive disorder		DOVES_relaxed.owl
MONDO:0018925	biolink:NamedThing	familial or sporadic hemiplegic migraine	Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).	DOVES_relaxed.owl
MONDO:0020757	biolink:NamedThing	sporadic hemiplegic migraine	A migraine disorder characterized by an aura that includes motor weakness and the absence of family history.	DOVES_relaxed.owl
MONDO:0000702	biolink:NamedThing	microscopic colitis	Inflammation of the colon that is only apparent by microscopic examination.	DOVES_relaxed.owl
MONDO:0000706	biolink:NamedThing	chemical colitis	A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically.	DOVES_relaxed.owl
MONDO:0000707	biolink:NamedThing	diversion colitis	A colitis which can occur as a complication of ileostomy or colostomy.	DOVES_relaxed.owl
MONDO:0005101	biolink:NamedThing	ulcerative colitis	An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage.	DOVES_relaxed.owl
MONDO:0005534	biolink:NamedThing	ileocolitis	Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon.	DOVES_relaxed.owl
MONDO:0006038	biolink:NamedThing	indeterminate colitis	It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy.	DOVES_relaxed.owl
MONDO:0024278	biolink:NamedThing	proctocolitis	Inflammation of the rectum and colon.	DOVES_relaxed.owl
MONDO:0000703	biolink:NamedThing	collagenous colitis	A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.	DOVES_relaxed.owl
MONDO:0000704	biolink:NamedThing	lymphocytic colitis	Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.	DOVES_relaxed.owl
MONDO:0018439	biolink:NamedThing	eosinophilic colitis	Inflammation of the colon that is characterized by eosinic infiltration.	DOVES_relaxed.owl
MONDO:0000708	biolink:NamedThing	Crohn jejunoileitis		DOVES_relaxed.owl
MONDO:0000709	biolink:NamedThing	Crohn ileitis	An Crohn disease involving a pathogenic inflammatory response in the ileum.	DOVES_relaxed.owl
MONDO:0021207	biolink:NamedThing	Crohn jejunitis	An Crohn disease involving a pathogenic inflammatory response in the jejunum.	DOVES_relaxed.owl
MONDO:0005539	biolink:NamedThing	small bowel Crohn disease	An Crohn disease involving a pathogenic inflammatory response in the small intestine.	DOVES_relaxed.owl
MONDO:0000710	biolink:NamedThing	gastroduodenal Crohn disease	An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite.	DOVES_relaxed.owl
MONDO:0004627	biolink:NamedThing	duodenitis	Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain.	DOVES_relaxed.owl
MONDO:0024415	biolink:NamedThing	hemorrhagic duodenitis		DOVES_relaxed.owl
MONDO:0002840	biolink:NamedThing	eosinophilic gastritis	An eosinophilic gastroenteritis that is characterized by inflammation of the stomach.	DOVES_relaxed.owl
MONDO:0002844	biolink:NamedThing	lymphocytic gastritis		DOVES_relaxed.owl
MONDO:0002845	biolink:NamedThing	necrotizing gastritis	A variant of phlegmonous gastritis, typically progressing to gastric gangrene.	DOVES_relaxed.owl
MONDO:0002846	biolink:NamedThing	granulomatous gastritis	Gastritis that is associated with the presence of granulomas.	DOVES_relaxed.owl
MONDO:0004628	biolink:NamedThing	gastroduodenitis		DOVES_relaxed.owl
MONDO:0004640	biolink:NamedThing	alcoholic gastritis	Inflammation of the stomach resulting from alcohol ingestion.	DOVES_relaxed.owl
MONDO:0005001	biolink:NamedThing	chronic gastritis	Inflammation of the stomach that is chronic in nature.	DOVES_relaxed.owl
MONDO:0022196	biolink:NamedThing	chronic erosive gastritis		DOVES_relaxed.owl
MONDO:0031014	biolink:NamedThing	autoimmune gastritis	Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma.	DOVES_relaxed.owl
MONDO:0043355	biolink:NamedThing	collagenous gastritis	A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis.	DOVES_relaxed.owl
MONDO:0000715	biolink:NamedThing	lymph node adenoid cystic carcinoma	A adenoid cystic carcinoma that involves the lymph node.	DOVES_relaxed.owl
MONDO:0001082	biolink:NamedThing	lymph node cancer	A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004	DOVES_relaxed.owl
MONDO:0001607	biolink:NamedThing	intrapelvic lymph node leukemic reticuloendotheliosis		DOVES_relaxed.owl
MONDO:0001614	biolink:NamedThing	intra-abdominal lymph node mast cell malignancy		DOVES_relaxed.owl
MONDO:0005438	biolink:NamedThing	metastatic malignant neoplasm in the lymph nodes	The spread of a malignant neoplasm to the lymph nodes.	DOVES_relaxed.owl
MONDO:0003175	biolink:NamedThing	salivary gland adenoid cystic carcinoma	An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver.	DOVES_relaxed.owl
MONDO:0003177	biolink:NamedThing	prostate adenoid cystic carcinoma	An adenoid cystic carcinoma that arises from the prostate gland.	DOVES_relaxed.owl
MONDO:0003180	biolink:NamedThing	cutaneous adenocystic carcinoma	A adenoid cystic carcinoma that involves the skin of body.	DOVES_relaxed.owl
MONDO:0003186	biolink:NamedThing	esophageal adenoid cystic carcinoma	An infrequent esophageal carcinoma arising from esophageal glands. (WHO)	DOVES_relaxed.owl
MONDO:0003187	biolink:NamedThing	Bartholin gland adenoid cystic carcinoma	A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns.	DOVES_relaxed.owl
MONDO:0006262	biolink:NamedThing	lacrimal gland adenoid cystic carcinoma	A adenoid cystic carcinoma that involves the lacrimal gland.	DOVES_relaxed.owl
MONDO:0006264	biolink:NamedThing	laryngeal adenoid cystic carcinoma	A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases.	DOVES_relaxed.owl
MONDO:0006352	biolink:NamedThing	paranasal sinus adenoid cystic carcinoma	A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases.	DOVES_relaxed.owl
MONDO:0006487	biolink:NamedThing	vaginal adenoid cystic carcinoma	An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present.	DOVES_relaxed.owl
MONDO:0021300	biolink:NamedThing	adenoid cystic carcinoma of oropharynx	A adenoid cystic carcinoma that involves the oropharynx.	DOVES_relaxed.owl
MONDO:0000716	biolink:NamedThing	agraphia	An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.	DOVES_relaxed.owl
MONDO:0003038	biolink:NamedThing	dysgraphia	Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994)	DOVES_relaxed.owl
MONDO:0000722	biolink:NamedThing	non-syndromic synpolydactyly	A synpolydactyly that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0011348	biolink:NamedThing	non-syndromic polydactyly	A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.	DOVES_relaxed.owl
MONDO:0017425	biolink:NamedThing	preaxial polydactyly of fingers	Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity.	DOVES_relaxed.owl
MONDO:0017426	biolink:NamedThing	postaxial polydactyly of fingers		DOVES_relaxed.owl
MONDO:0017456	biolink:NamedThing	central polydactyly of fingers		DOVES_relaxed.owl
MONDO:0017457	biolink:NamedThing	Preaxial polydactyly of toes		DOVES_relaxed.owl
MONDO:0019375	biolink:NamedThing	megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.	DOVES_relaxed.owl
MONDO:0020927	biolink:NamedThing	postaxial polydactyly		DOVES_relaxed.owl
MONDO:0034669	biolink:NamedThing	non-syndromic preaxial polydactyly		DOVES_relaxed.owl
MONDO:0034670	biolink:NamedThing	non-syndromic postaxial polydactyly		DOVES_relaxed.owl
MONDO:0034671	biolink:NamedThing	non-syndromic complex polydactyly		DOVES_relaxed.owl
MONDO:0019530	biolink:NamedThing	non-syndromic syndactyly	A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly.	DOVES_relaxed.owl
MONDO:0008512	biolink:NamedThing	syndactyly type 1	Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes.	DOVES_relaxed.owl
MONDO:0008514	biolink:NamedThing	syndactyly type 3	Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.	DOVES_relaxed.owl
MONDO:0008515	biolink:NamedThing	syndactyly type 4	A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).	DOVES_relaxed.owl
MONDO:0008516	biolink:NamedThing	syndactyly type 5	Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.	DOVES_relaxed.owl
MONDO:0010669	biolink:NamedThing	syndactyly type 8	Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.	DOVES_relaxed.owl
MONDO:0012271	biolink:NamedThing	mesoaxial synostotic syndactyly with phalangeal reduction	Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.	DOVES_relaxed.owl
MONDO:0017460	biolink:NamedThing	syndactyly type 6	Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers.	DOVES_relaxed.owl
MONDO:0021651	biolink:NamedThing	synpolydactyly	A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits).	DOVES_relaxed.owl
MONDO:0800066	biolink:NamedThing	polydactyly-syndactyly-triphalangism	Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two.	DOVES_relaxed.owl
MONDO:0004730	biolink:NamedThing	speech disorder	A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.	DOVES_relaxed.owl
MONDO:0002904	biolink:NamedThing	echolalia	A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song.	DOVES_relaxed.owl
MONDO:0002905	biolink:NamedThing	mutism	The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis.	DOVES_relaxed.owl
MONDO:0000726	biolink:NamedThing	idiopathic scoliosis	A scoliosis with no known cause.	DOVES_relaxed.owl
MONDO:0005392	biolink:NamedThing	scoliosis	A congenital or acquired spinal deformity characterized by lateral curvature of the spine.	DOVES_relaxed.owl
MONDO:0043116	biolink:NamedThing	iida kannari syndrome		DOVES_relaxed.owl
MONDO:0700007	biolink:NamedThing	idiopathic disease	A disease or disorder for which the cause is of uncertain or unknown.	DOVES_relaxed.owl
MONDO:0001073	biolink:NamedThing	idiopathic progressive polyneuropathy		DOVES_relaxed.owl
MONDO:0001182	biolink:NamedThing	idiopathic corneal edema		DOVES_relaxed.owl
MONDO:0001295	biolink:NamedThing	idiopathic peripheral autonomic neuropathy		DOVES_relaxed.owl
MONDO:0002429	biolink:NamedThing	idiopathic interstitial pneumonia	A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis).	DOVES_relaxed.owl
MONDO:0002644	biolink:NamedThing	idiopathic granulomatous myositis		DOVES_relaxed.owl
MONDO:0004463	biolink:NamedThing	cellular phase chronic idiopathic myelofibrosis	Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow.	DOVES_relaxed.owl
MONDO:0005807	biolink:NamedThing	idiopathic CD4-positive T-lymphocytopenia	A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections.	DOVES_relaxed.owl
MONDO:0007247	biolink:NamedThing	basal ganglia calcification, idiopathic, childhood-onset		DOVES_relaxed.owl
MONDO:0007385	biolink:NamedThing	idiopathic spontaneous coronary artery dissection		DOVES_relaxed.owl
MONDO:0008347	biolink:NamedThing	idiopathic and/or familial pulmonary arterial hypertension	Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown.	DOVES_relaxed.owl
MONDO:0010232	biolink:NamedThing	intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.	DOVES_relaxed.owl
MONDO:0011429	biolink:NamedThing	juvenile idiopathic arthritis	Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases).	DOVES_relaxed.owl
MONDO:0012197	biolink:NamedThing	idiopathic aplastic anemia	Aplastic anemia without a known cause.	DOVES_relaxed.owl
MONDO:0013860	biolink:NamedThing	idiopathic membranous glomerulonephritis	Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function.	DOVES_relaxed.owl
MONDO:0014004	biolink:NamedThing	basal ganglia calcification, idiopathic, 4		DOVES_relaxed.owl
MONDO:0014204	biolink:NamedThing	basal ganglia calcification, idiopathic, 5		DOVES_relaxed.owl
MONDO:0014226	biolink:NamedThing	idiopathic CD4 lymphocytopenia	Idiopathic CD4 lymphocytopenia (ICL) is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.	DOVES_relaxed.owl
MONDO:0014628	biolink:NamedThing	basal ganglia calcification, idiopathic, 6	Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene.	DOVES_relaxed.owl
MONDO:0015271	biolink:NamedThing	idiopathic camptocormia	Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.	DOVES_relaxed.owl
MONDO:0015344	biolink:NamedThing	idiopathic acute transverse myelitis	Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.	DOVES_relaxed.owl
MONDO:0015664	biolink:NamedThing	idiopathic pulmonary artery dilatation	Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.	DOVES_relaxed.owl
MONDO:0015666	biolink:NamedThing	familial idiopathic dilatation of the right atrium	Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.	DOVES_relaxed.owl
MONDO:0015713	biolink:NamedThing	idiopathic central precocious puberty		DOVES_relaxed.owl
MONDO:0015927	biolink:NamedThing	idiopathic eosinophilic pneumonia		DOVES_relaxed.owl
MONDO:0016352	biolink:NamedThing	idiopathic inherited hypercalciuria		DOVES_relaxed.owl
MONDO:0016662	biolink:NamedThing	idiopathic recurrent pericarditis	A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.	DOVES_relaxed.owl
MONDO:0017170	biolink:NamedThing	idiopathic recurrent stupor	Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.	DOVES_relaxed.owl
MONDO:0017256	biolink:NamedThing	idiopathic anterior uveitis		DOVES_relaxed.owl
MONDO:0017257	biolink:NamedThing	idiopathic posterior uveitis	Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.	DOVES_relaxed.owl
MONDO:0017258	biolink:NamedThing	idiopathic panuveitis	Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.	DOVES_relaxed.owl
MONDO:0017789	biolink:NamedThing	idiopathic linear interstitial keratitis	Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.	DOVES_relaxed.owl
MONDO:0018044	biolink:NamedThing	idiopathic hypersomnia	Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time.	DOVES_relaxed.owl
MONDO:0018108	biolink:NamedThing	idiopathic disseminated cytomegalovirus infection		DOVES_relaxed.owl
MONDO:0018146	biolink:NamedThing	idiopathic macular telangiectasia type 1	A rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.	DOVES_relaxed.owl
MONDO:0018147	biolink:NamedThing	idiopathic macular telangiectasia type 3	A rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.	DOVES_relaxed.owl
MONDO:0018170	biolink:NamedThing	idiopathic nephrotic syndrome	Nephrotic syndrome for which no cause has been identified.	DOVES_relaxed.owl
MONDO:0018362	biolink:NamedThing	persistent idiopathic facial pain		DOVES_relaxed.owl
MONDO:0018380	biolink:NamedThing	idiopathic avascular necrosis		DOVES_relaxed.owl
MONDO:0018635	biolink:NamedThing	idiopathic phalangeal acro-osteolysis		DOVES_relaxed.owl
MONDO:0018654	biolink:NamedThing	idiopathic dropped head syndrome		DOVES_relaxed.owl
MONDO:0018684	biolink:NamedThing	idiopathic neonatal atrial flutter	Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.	DOVES_relaxed.owl
MONDO:0018807	biolink:NamedThing	idiopathic ductopenia		DOVES_relaxed.owl
MONDO:0018809	biolink:NamedThing	idiopathic peliosis hepatis		DOVES_relaxed.owl
MONDO:0018956	biolink:NamedThing	idiopathic bronchiectasis	Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).	DOVES_relaxed.owl
MONDO:0019157	biolink:NamedThing	myelodysplastic syndrome with ring sideroblasts	Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS.	DOVES_relaxed.owl
MONDO:0019393	biolink:NamedThing	idiopathic malabsorption due to bile acid synthesis defects	Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.	DOVES_relaxed.owl
MONDO:0019554	biolink:NamedThing	idiopathic localized lipodystrophy	Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).	DOVES_relaxed.owl
MONDO:0019635	biolink:NamedThing	idiopathic achalasia	A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.	DOVES_relaxed.owl
MONDO:0020122	biolink:NamedThing	acquired idiopathic inflammatory myopathy	An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies.	DOVES_relaxed.owl
MONDO:0020510	biolink:NamedThing	idiopathic syringomyelia	Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.	DOVES_relaxed.owl
MONDO:0024538	biolink:NamedThing	basal ganglia calcification, idiopathic, 1		DOVES_relaxed.owl
MONDO:0032673	biolink:NamedThing	basal ganglia calcification, idiopathic, 7, autosomal recessive		DOVES_relaxed.owl
MONDO:0032938	biolink:NamedThing	basal ganglia calcification, idiopathic, 8, autosomal recessive		DOVES_relaxed.owl
MONDO:0034150	biolink:NamedThing	idiopathic gastroparesis		DOVES_relaxed.owl
MONDO:0044211	biolink:NamedThing	idiopathic urticaria		DOVES_relaxed.owl
MONDO:0044689	biolink:NamedThing	recurrent idiopathic neuroretinitis		DOVES_relaxed.owl
MONDO:0100051	biolink:NamedThing	idiopathic mast cell activation syndrome	Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable.	DOVES_relaxed.owl
MONDO:0100054	biolink:NamedThing	idiopathic anaphylaxis	Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.	DOVES_relaxed.owl
MONDO:0000727	biolink:NamedThing	scapuloperoneal myopathy	A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.	DOVES_relaxed.owl
MONDO:0016830	biolink:NamedThing	Emery-Dreifuss muscular dystrophy	Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.	DOVES_relaxed.owl
MONDO:0010401	biolink:NamedThing	X-linked myopathy with postural muscle atrophy	X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.	DOVES_relaxed.owl
MONDO:0010680	biolink:NamedThing	X-linked Emery-Dreifuss muscular dystrophy	X-linked form of Emery-Dreifuss muscular dystrophy.	DOVES_relaxed.owl
MONDO:0800318	biolink:NamedThing	Emery-Deifuss muscular dystrophy 6, X-linked		DOVES_relaxed.owl
MONDO:0000728	biolink:NamedThing	ptosis	The drooping of the upper eyelid.	DOVES_relaxed.owl
MONDO:0000926	biolink:NamedThing	eye accommodation disease	Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies.	DOVES_relaxed.owl
MONDO:0000942	biolink:NamedThing	corneal disorder	A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma.	DOVES_relaxed.owl
MONDO:0000950	biolink:NamedThing	asthenopia	Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches.	DOVES_relaxed.owl
MONDO:0001176	biolink:NamedThing	lens disorder	A disease involving the lens of camera-type eye.	DOVES_relaxed.owl
MONDO:0001250	biolink:NamedThing	keratomalacia	An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia.	DOVES_relaxed.owl
MONDO:0001269	biolink:NamedThing	scleral disorder	A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare.	DOVES_relaxed.owl
MONDO:0001355	biolink:NamedThing	ocular siderosis	A hemosiderosis that involves the camera-type eye.	DOVES_relaxed.owl
MONDO:0001523	biolink:NamedThing	luxation of globe		DOVES_relaxed.owl
MONDO:0001854	biolink:NamedThing	lacrimal apparatus disorder	A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus.	DOVES_relaxed.owl
MONDO:0002310	biolink:NamedThing	anterior dislocation of lens		DOVES_relaxed.owl
MONDO:0002661	biolink:NamedThing	uveal disorder	A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma.	DOVES_relaxed.owl
MONDO:0003382	biolink:NamedThing	eyelid disorder	A disease involving the eyelid.	DOVES_relaxed.owl
MONDO:0004390	biolink:NamedThing	ocular hypotension	Abnormally low intraocular pressure often related to chronic inflammation (uveitis).	DOVES_relaxed.owl
MONDO:0004758	biolink:NamedThing	scotoma	A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions.	DOVES_relaxed.owl
MONDO:0004770	biolink:NamedThing	exophthalmos	The anterior displacement of the eye within the orbit, giving a bulging appearance.	DOVES_relaxed.owl
MONDO:0004861	biolink:NamedThing	ophthalmia nodosa		DOVES_relaxed.owl
MONDO:0005041	biolink:NamedThing	glaucoma	Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.	DOVES_relaxed.owl
MONDO:0005283	biolink:NamedThing	retinal disorder	Any disease or disorder of the retina.	DOVES_relaxed.owl
MONDO:0005551	biolink:NamedThing	eye allergy	An allergic disease involving a pathogenic inflammatory response in the camera-type eye.	DOVES_relaxed.owl
MONDO:0005885	biolink:NamedThing	optic neuritis	Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated.	DOVES_relaxed.owl
MONDO:0006170	biolink:NamedThing	conjunctival disorder	Any disorder of the conjunctiva.	DOVES_relaxed.owl
MONDO:0006875	biolink:NamedThing	ocular hypertension	Abnormally high intraocular pressure.	DOVES_relaxed.owl
MONDO:0007077	biolink:NamedThing	Tietz syndrome	Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.	DOVES_relaxed.owl
MONDO:0007949	biolink:NamedThing	Marshall syndrome	Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.	DOVES_relaxed.owl
MONDO:0007992	biolink:NamedThing	microcornea-glaucoma-absent frontal sinuses syndrome	Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.	DOVES_relaxed.owl
MONDO:0008111	biolink:NamedThing	oculodentodigital dysplasia	Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.	DOVES_relaxed.owl
MONDO:0008501	biolink:NamedThing	Sturge-Weber syndrome	Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.	DOVES_relaxed.owl
MONDO:0009064	biolink:NamedThing	ocular cystinosis	Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.	DOVES_relaxed.owl
MONDO:0009561	biolink:NamedThing	alpha-mannosidosis	Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.	DOVES_relaxed.owl
MONDO:0009577	biolink:NamedThing	megalocornea-intellectual disability syndrome	Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.	DOVES_relaxed.owl
MONDO:0009653	biolink:NamedThing	mucolipidosis type IV	A lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.	DOVES_relaxed.owl
MONDO:0009737	biolink:NamedThing	galactosialidosis	A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.	DOVES_relaxed.owl
MONDO:0009742	biolink:NamedThing	neuroectodermal melanolysosomal disease	Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.	DOVES_relaxed.owl
MONDO:0009756	biolink:NamedThing	Niemann-Pick disease type A	Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.	DOVES_relaxed.owl
MONDO:0009869	biolink:NamedThing	isolated Pierre-Robin syndrome	Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.	DOVES_relaxed.owl
MONDO:0010001	biolink:NamedThing	ectodermal dysplasia-blindness syndrome	Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.	DOVES_relaxed.owl
MONDO:0010160	biolink:NamedThing	tyrosinemia type II	Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.	DOVES_relaxed.owl
MONDO:0010302	biolink:NamedThing	Ito hypomelanosis	Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.	DOVES_relaxed.owl
MONDO:0010446	biolink:NamedThing	X-linked cone dysfunction syndrome with myopia	X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.	DOVES_relaxed.owl
MONDO:0010952	biolink:NamedThing	hereditary hyperferritinemia with congenital cataracts	Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.	DOVES_relaxed.owl
MONDO:0012481	biolink:NamedThing	mevalonic aciduria	Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.	DOVES_relaxed.owl
MONDO:0012907	biolink:NamedThing	blindness - scoliosis - arachnodactyly syndrome	This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.	DOVES_relaxed.owl
MONDO:0014510	biolink:NamedThing	fatty acyl-CoA reductase 1 deficiency		DOVES_relaxed.owl
MONDO:0014698	biolink:NamedThing	microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome		DOVES_relaxed.owl
MONDO:0015290	biolink:NamedThing	neurotrophic keratopathy	Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.	DOVES_relaxed.owl
MONDO:0015368	biolink:NamedThing	neuro-ophthalmological disease		DOVES_relaxed.owl
MONDO:0015453	biolink:NamedThing	Cogan syndrome	Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases.	DOVES_relaxed.owl
MONDO:0015599	biolink:NamedThing	atopic keratoconjunctivitis	Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.	DOVES_relaxed.owl
MONDO:0015776	biolink:NamedThing	rhizomelic chondrodysplasia punctata	Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.	DOVES_relaxed.owl
MONDO:0016205	biolink:NamedThing	IRVAN syndrome		DOVES_relaxed.owl
MONDO:0016762	biolink:NamedThing	microcornea-corectopia-macular hypoplasia syndrome	Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family.	DOVES_relaxed.owl
MONDO:0017201	biolink:NamedThing	Spasmus nutans	Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.	DOVES_relaxed.owl
MONDO:0017204	biolink:NamedThing	toxic maculopathy due to antimalarial drugs	Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.	DOVES_relaxed.owl
MONDO:0017318	biolink:NamedThing	phakomatosis pigmentovascularis		DOVES_relaxed.owl
MONDO:0017869	biolink:NamedThing	chondroectodermal dysplasia with night blindness	Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.	DOVES_relaxed.owl
MONDO:0018150	biolink:NamedThing	Gaucher disease	Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).	DOVES_relaxed.owl
MONDO:0018486	biolink:NamedThing	visual snow syndrome	Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow.	DOVES_relaxed.owl
MONDO:0018606	biolink:NamedThing	extensive peripapillary myelinated nerve fibers		DOVES_relaxed.owl
MONDO:0018675	biolink:NamedThing	IgG4-related ophthalmic disorder	A IgG4-related disease that involves the eye.	DOVES_relaxed.owl
MONDO:0019504	biolink:NamedThing	superior limbic keratoconjunctivitis	Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both.	DOVES_relaxed.owl
MONDO:0020145	biolink:NamedThing	developmental defect of the eye		DOVES_relaxed.owl
MONDO:0020235	biolink:NamedThing	lens size anomaly		DOVES_relaxed.owl
MONDO:0020237	biolink:NamedThing	lens shape anomaly		DOVES_relaxed.owl
MONDO:0020249	biolink:NamedThing	hereditary optic neuropathy		DOVES_relaxed.owl
MONDO:0020275	biolink:NamedThing	oculocutaneous or ocular albinism	Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism.	DOVES_relaxed.owl
MONDO:0020368	biolink:NamedThing	Axenfeld anomaly	Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.	DOVES_relaxed.owl
MONDO:0020548	biolink:NamedThing	ocular pemphigoid	Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease.	DOVES_relaxed.owl
MONDO:0021220	biolink:NamedThing	eye neoplasm	A neoplasm (disease) that involves the eye.	DOVES_relaxed.owl
MONDO:0035584	biolink:NamedThing	punctate inner choroidopathy	A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.	DOVES_relaxed.owl
MONDO:0044137	biolink:NamedThing	vitreous body disorder	Any disease affecting the vitreous body of the eye.	DOVES_relaxed.owl
MONDO:0044685	biolink:NamedThing	autoimmune/inflammatory optic neuropathy		DOVES_relaxed.owl
MONDO:0100236	biolink:NamedThing	LTBP2-related ocular dysgenesis	Any ocular dysgenesis disorder in which the cause of the disease is a mutation in the LTBP2 gene.	DOVES_relaxed.owl
MONDO:0800183	biolink:NamedThing	PAX6-related ocular dysgenesis	Any eye disorder in which the cause of the disease is a mutation in the PAX6 gene.	DOVES_relaxed.owl
MONDO:0810000	biolink:NamedThing	choroidal neovascularization	An eye disorder described by the growth of new blood vessels that originate from the choroid through a break in the Bruch membrane into the sub–retinal pigment epithelium (sub-RPE) or subretinal space. Choroidal neovascularization (CNV) is a major cause of visual loss.	DOVES_relaxed.owl
MONDO:0850008	biolink:NamedThing	anterior segment developmental abnormality with extraocular manifestations		DOVES_relaxed.owl
MONDO:0850010	biolink:NamedThing	congenital optic disc excavation		DOVES_relaxed.owl
MONDO:0000732	biolink:NamedThing	combined oxidative phosphorylation deficiency	A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes.	DOVES_relaxed.owl
MONDO:0000863	biolink:NamedThing	myopathy, lactic acidosis, and sideroblastic anemia	Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.	DOVES_relaxed.owl
MONDO:0008133	biolink:NamedThing	optic atrophy 3		DOVES_relaxed.owl
MONDO:0008134	biolink:NamedThing	autosomal dominant optic atrophy, classic form	One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects.	DOVES_relaxed.owl
MONDO:0010779	biolink:NamedThing	mitochondrial non-syndromic sensorineural hearing loss		DOVES_relaxed.owl
MONDO:0010785	biolink:NamedThing	maternally-inherited diabetes and deafness	Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.	DOVES_relaxed.owl
MONDO:0010786	biolink:NamedThing	chronic diarrhea with villous atrophy	Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.	DOVES_relaxed.owl
MONDO:0010788	biolink:NamedThing	Leber hereditary optic neuropathy	Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.	DOVES_relaxed.owl
MONDO:0010799	biolink:NamedThing	deafness, aminoglycoside-induced		DOVES_relaxed.owl
MONDO:0011803	biolink:NamedThing	hereditary spastic paraplegia 7	Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.	DOVES_relaxed.owl
MONDO:0012450	biolink:NamedThing	spinocerebellar ataxia type 28	Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.	DOVES_relaxed.owl
MONDO:0012622	biolink:NamedThing	leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.	DOVES_relaxed.owl
MONDO:0012664	biolink:NamedThing	spastic ataxia 3	Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene.	DOVES_relaxed.owl
MONDO:0012683	biolink:NamedThing	pontocerebellar hypoplasia type 6	Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.	DOVES_relaxed.owl
MONDO:0013069	biolink:NamedThing	autosomal recessive optic atrophy, OPA7 type		DOVES_relaxed.owl
MONDO:0013116	biolink:NamedThing	congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome		DOVES_relaxed.owl
MONDO:0013354	biolink:NamedThing	spastic ataxia 4	Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene.	DOVES_relaxed.owl
MONDO:0013458	biolink:NamedThing	hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome		DOVES_relaxed.owl
MONDO:0014467	biolink:NamedThing	Charcot-Marie-Tooth disease recessive intermediate D	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.	DOVES_relaxed.owl
MONDO:0014532	biolink:NamedThing	autosomal dominant mitochondrial myopathy with exercise intolerance		DOVES_relaxed.owl
MONDO:0014733	biolink:NamedThing	Charcot-Marie-Tooth disease type 4K	SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).	DOVES_relaxed.owl
MONDO:0014869	biolink:NamedThing	hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome		DOVES_relaxed.owl
MONDO:0014882	biolink:NamedThing	hereditary spastic paraplegia 77	Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.	DOVES_relaxed.owl
MONDO:0015487	biolink:NamedThing	fatal infantile encephalocardiomyopathy	Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.	DOVES_relaxed.owl
MONDO:0015632	biolink:NamedThing	FASTKD2-related infantile mitochondrial encephalomyopathy		DOVES_relaxed.owl
MONDO:0016646	biolink:NamedThing	autosomal dominant optic atrophy and peripheral neuropathy	Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.	DOVES_relaxed.owl
MONDO:0016794	biolink:NamedThing	maternally-inherited mitochondrial myopathy		DOVES_relaxed.owl
MONDO:0016797	biolink:NamedThing	multiple mitochondrial DNA deletion syndrome	A mitochondrial oxidative phosphorylation disorder in which mitochondrial DNA (mtDNA) level is lower than normal.	DOVES_relaxed.owl
MONDO:0016805	biolink:NamedThing	isolated oxidative phosphorylation complex disorder		DOVES_relaxed.owl
MONDO:0016806	biolink:NamedThing	maternally-inherited mitochondrial dystonia	Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.	DOVES_relaxed.owl
MONDO:0017933	biolink:NamedThing	hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.	DOVES_relaxed.owl
MONDO:0018002	biolink:NamedThing	adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.	DOVES_relaxed.owl
MONDO:0018121	biolink:NamedThing	mitochondrial DNA maintenance syndrome	An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance.	DOVES_relaxed.owl
MONDO:0018158	biolink:NamedThing	mitochondrial DNA depletion syndrome	The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.	DOVES_relaxed.owl
MONDO:0018706	biolink:NamedThing	syndromic sensorineural deafness due to combined oxidative phosphorylation defect		DOVES_relaxed.owl
MONDO:0018861	biolink:NamedThing	Zellweger-like syndrome without peroxisomal anomalies	An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0019016	biolink:NamedThing	maternally-inherited progressive external ophthalmoplegia		DOVES_relaxed.owl
MONDO:0020478	biolink:NamedThing	Leber plus disease	Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.	DOVES_relaxed.owl
MONDO:0044655	biolink:NamedThing	c12orf65-related combined oxidative phosphorylation defect		DOVES_relaxed.owl
MONDO:0054865	biolink:NamedThing	encephalopathy due to mitochondrial and peroxisomal fission defect		DOVES_relaxed.owl
MONDO:0001178	biolink:NamedThing	pseudopterygium		DOVES_relaxed.owl
MONDO:0001308	biolink:NamedThing	corneal deposit		DOVES_relaxed.owl
MONDO:0001310	biolink:NamedThing	Bowman's membrane folds or rupture		DOVES_relaxed.owl
MONDO:0001515	biolink:NamedThing	corneal degeneration		DOVES_relaxed.owl
MONDO:0001579	biolink:NamedThing	corneal staphyloma		DOVES_relaxed.owl
MONDO:0001716	biolink:NamedThing	corneal argyrosis		DOVES_relaxed.owl
MONDO:0001950	biolink:NamedThing	corneal ectasia		DOVES_relaxed.owl
MONDO:0002261	biolink:NamedThing	keratopathy	Any disorder of the cornea.	DOVES_relaxed.owl
MONDO:0006712	biolink:NamedThing	corneal edema	Hazy, swollen cornea.	DOVES_relaxed.owl
MONDO:0011414	biolink:NamedThing	Peters anomaly	Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.	DOVES_relaxed.owl
MONDO:0015298	biolink:NamedThing	pellucid marginal degeneration		DOVES_relaxed.owl
MONDO:0018102	biolink:NamedThing	corneal dystrophy	The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.	DOVES_relaxed.owl
MONDO:0020219	biolink:NamedThing	corneogoniodysgenesis		DOVES_relaxed.owl
MONDO:0021238	biolink:NamedThing	cornea neoplasm	A neoplasm (disease) that involves the cornea.	DOVES_relaxed.owl
MONDO:0025667	biolink:NamedThing	limbal stem cell deficiency		DOVES_relaxed.owl
MONDO:0033816	biolink:NamedThing	thygeson superficial punctate keratopathy	An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease.	DOVES_relaxed.owl
MONDO:0033818	biolink:NamedThing	Terrien marginal degeneration	A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism	DOVES_relaxed.owl
MONDO:0000734	biolink:NamedThing	Ohdo syndrome and variants		DOVES_relaxed.owl
MONDO:0011432	biolink:NamedThing	blepharophimosis - intellectual disability syndrome, Verloes type		DOVES_relaxed.owl
MONDO:0013424	biolink:NamedThing	3p- syndrome	Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.	DOVES_relaxed.owl
MONDO:0007245	biolink:NamedThing	cafe au lait spots, multiple	A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.	DOVES_relaxed.owl
MONDO:0007445	biolink:NamedThing	dermatopathia pigmentosa reticularis		DOVES_relaxed.owl
MONDO:0007483	biolink:NamedThing	dyschromatosis symmetrica hereditaria	Acropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.	DOVES_relaxed.owl
MONDO:0007651	biolink:NamedThing	gastrocutaneous syndrome		DOVES_relaxed.owl
MONDO:0007891	biolink:NamedThing	familial generalized lentiginosis	Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.	DOVES_relaxed.owl
MONDO:0008059	biolink:NamedThing	Naegeli-Franceschetti-Jadassohn syndrome	Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.	DOVES_relaxed.owl
MONDO:0008075	biolink:NamedThing	schwannomatosis	The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.	DOVES_relaxed.owl
MONDO:0008371	biolink:NamedThing	Dowling-Degos disease	A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.	DOVES_relaxed.owl
MONDO:0008755	biolink:NamedThing	Moynahan syndrome		DOVES_relaxed.owl
MONDO:0013648	biolink:NamedThing	familial progressive hyperpigmentation	Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.	DOVES_relaxed.owl
MONDO:0013688	biolink:NamedThing	linear and whorled nevoid hypermelanosis	Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism.	DOVES_relaxed.owl
MONDO:0014234	biolink:NamedThing	reticulate acropigmentation of Kitamura	A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.	DOVES_relaxed.owl
MONDO:0014460	biolink:NamedThing	nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome	Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.	DOVES_relaxed.owl
MONDO:0016213	biolink:NamedThing	leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome	Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.	DOVES_relaxed.owl
MONDO:0018311	biolink:NamedThing	acromelanosis	Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life.	DOVES_relaxed.owl
MONDO:0800357	biolink:NamedThing	hyperpigmentation, progressive cribriform and zosteriform		DOVES_relaxed.owl
MONDO:0000740	biolink:NamedThing	adenoid hypertrophy	An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing.	DOVES_relaxed.owl
MONDO:0002232	biolink:NamedThing	nasal cavity disorder	A disease involving the nasal cavity.	DOVES_relaxed.owl
MONDO:0002567	biolink:NamedThing	tracheal disorder	A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma.	DOVES_relaxed.owl
MONDO:0006858	biolink:NamedThing	mouth disorder	A disease involving the mouth.	DOVES_relaxed.owl
MONDO:0000743	biolink:NamedThing	oral hairy leukoplakia	An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy.	DOVES_relaxed.owl
MONDO:0001142	biolink:NamedThing	salivary gland disorder	A disease involving the saliva-secreting gland.	DOVES_relaxed.owl
MONDO:0001165	biolink:NamedThing	tongue disorder	A disease involving the tongue.	DOVES_relaxed.owl
MONDO:0001752	biolink:NamedThing	alveolar periostitis	A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)	DOVES_relaxed.owl
MONDO:0005535	biolink:NamedThing	oral Crohn disease	Crohn's disease affecting the mouth.	DOVES_relaxed.owl
MONDO:0005886	biolink:NamedThing	oral candidiasis	Infection of the mucosal lining of the mouth with the fungus Candida albicans.	DOVES_relaxed.owl
MONDO:0006576	biolink:NamedThing	Ludwig's angina	Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0006880	biolink:NamedThing	oral leukoedema	A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0015381	biolink:NamedThing	commissural lip fistula	A cysts and fistulae of the face and oral cavity that involves the labial commissure.	DOVES_relaxed.owl
MONDO:0019368	biolink:NamedThing	florid cemento-osseous dysplasia	Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.	DOVES_relaxed.owl
MONDO:0043923	biolink:NamedThing	lichen planus, oral	A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral.	DOVES_relaxed.owl
MONDO:0044992	biolink:NamedThing	mouth mucosa disorder	A disease or disorder that involves the mouth mucosa.	DOVES_relaxed.owl
MONDO:0000741	biolink:NamedThing	angular cheilitis	Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts.	DOVES_relaxed.owl
MONDO:0043300	biolink:NamedThing	actinic cheilitis		DOVES_relaxed.owl
MONDO:0005200	biolink:NamedThing	viral dilated cardiomyopathy	An dilated cardiomyopathy caused by infection with Viruses.	DOVES_relaxed.owl
MONDO:0005448	biolink:NamedThing	hepatitis C induced liver cirrhosis	Liver injury resulting from hepatitis C infection.	DOVES_relaxed.owl
MONDO:0020648	biolink:NamedThing	rubella encephalitis		DOVES_relaxed.owl
MONDO:0020689	biolink:NamedThing	AIDS dementia complex	A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)	DOVES_relaxed.owl
MONDO:0021677	biolink:NamedThing	post-infectious neuralgia		DOVES_relaxed.owl
MONDO:0024571	biolink:NamedThing	AIDS-related disorder	A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome.	DOVES_relaxed.owl
MONDO:0100320	biolink:NamedThing	post-COVID-19 disorder	A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection.	DOVES_relaxed.owl
MONDO:0000749	biolink:NamedThing	breast abscess	A breast disease characterized by a collection of pus in the breast.	DOVES_relaxed.owl
MONDO:0000939	biolink:NamedThing	intracranial abscess	An abscess that is located in the intracranial space.	DOVES_relaxed.owl
MONDO:0001307	biolink:NamedThing	corneal abscess	An abscess of the cornea.	DOVES_relaxed.owl
MONDO:0001922	biolink:NamedThing	pyoureter	An abscess that is located in the ureter.	DOVES_relaxed.owl
MONDO:0002333	biolink:NamedThing	splenic abscess	An abscess that is located in the spleen.	DOVES_relaxed.owl
MONDO:0004862	biolink:NamedThing	vitreous abscess		DOVES_relaxed.owl
MONDO:0700052	biolink:NamedThing	intersphincteric abscess	An abscess contained between the internal and external anal sphincters.	DOVES_relaxed.owl
MONDO:0002646	biolink:NamedThing	viral laryngitis	Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus.	DOVES_relaxed.owl
MONDO:0005249	biolink:NamedThing	pneumonia	An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness.	DOVES_relaxed.owl
MONDO:0020866	biolink:NamedThing	nasopharyngeal diphtheria	Infection of the nasopharynx by Corynebacterium diphtheriae.	DOVES_relaxed.owl
MONDO:0021783	biolink:NamedThing	streptococcal sore throat	Inflammation of the throat due to Streptococcus pyogenes.	DOVES_relaxed.owl
MONDO:0002614	biolink:NamedThing	bone inflammation disease	Inflammation of the bone.	DOVES_relaxed.owl
MONDO:0004241	biolink:NamedThing	Osgood-Schlatter disease	Osteochondrosis of the growth plate near the tibial tuberosity.	DOVES_relaxed.owl
MONDO:0007244	biolink:NamedThing	Caffey disease	Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.	DOVES_relaxed.owl
MONDO:0002657	biolink:NamedThing	breast disorder	A disease involving the breast.	DOVES_relaxed.owl
MONDO:0001100	biolink:NamedThing	hypertrophy of breast	Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain.	DOVES_relaxed.owl
MONDO:0001101	biolink:NamedThing	fat necrosis of breast	Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment.	DOVES_relaxed.owl
MONDO:0002064	biolink:NamedThing	breast angiomatosis	A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces.	DOVES_relaxed.owl
MONDO:0003725	biolink:NamedThing	breast adenosis	A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis.	DOVES_relaxed.owl
MONDO:0005219	biolink:NamedThing	breast fibrocystic disease	Fibrosis associated with cyst formation in the breast parenchyma.	DOVES_relaxed.owl
MONDO:0015852	biolink:NamedThing	excess breast volume or number		DOVES_relaxed.owl
MONDO:0015853	biolink:NamedThing	deficient breast volume or number		DOVES_relaxed.owl
MONDO:0000750	biolink:NamedThing	dental abscess	A tooth disease characterized by a localized collection of pus associated with a tooth.	DOVES_relaxed.owl
MONDO:0002220	biolink:NamedThing	tooth hard tissue disease		DOVES_relaxed.owl
MONDO:0002325	biolink:NamedThing	tooth erosion, non-bacterial	Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)	DOVES_relaxed.owl
MONDO:0002635	biolink:NamedThing	periodontal disorder	An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support.	DOVES_relaxed.owl
MONDO:0003394	biolink:NamedThing	dental pulp disorder	A disease involving the dental pulp.	DOVES_relaxed.owl
MONDO:0006722	biolink:NamedThing	dental fluorosis	A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel.	DOVES_relaxed.owl
MONDO:0015668	biolink:NamedThing	hereditary dentin defect	The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions.	DOVES_relaxed.owl
MONDO:0000751	biolink:NamedThing	cervical polyp	A polyp that arises from the surface of the cervix.	DOVES_relaxed.owl
MONDO:0002255	biolink:NamedThing	hypertrophic elongation of cervix		DOVES_relaxed.owl
MONDO:0002345	biolink:NamedThing	cervicitis	An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge.	DOVES_relaxed.owl
MONDO:0002706	biolink:NamedThing	cervix endometriosis	Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding.	DOVES_relaxed.owl
MONDO:0004702	biolink:NamedThing	uterine cervix leukoplakia	The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present.	DOVES_relaxed.owl
MONDO:0005698	biolink:NamedThing	cervical incompetence	A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis.	DOVES_relaxed.owl
MONDO:0006139	biolink:NamedThing	cervical metaplasia	Metaplastic changes in the cervical glandular or squamous epithelium.	DOVES_relaxed.owl
MONDO:0006696	biolink:NamedThing	cervix erosion	Loss or destruction of the epithelial lining of the uterine cervix.	DOVES_relaxed.owl
MONDO:0006195	biolink:NamedThing	endometrial polyp	A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported.	DOVES_relaxed.owl
MONDO:0000754	biolink:NamedThing	anal fistula	A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess.	DOVES_relaxed.owl
MONDO:0001772	biolink:NamedThing	ulcer of anus and rectum		DOVES_relaxed.owl
MONDO:0002165	biolink:NamedThing	rectal neoplasm	A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	DOVES_relaxed.owl
MONDO:0002519	biolink:NamedThing	anus disorder	A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma.	DOVES_relaxed.owl
MONDO:0004754	biolink:NamedThing	rectal prolapse	Protrusion of the rectum through the anus.	DOVES_relaxed.owl
MONDO:0021398	biolink:NamedThing	polyp of rectum	A polyp that involves the rectum.	DOVES_relaxed.owl
MONDO:0000755	biolink:NamedThing	ectopic pregnancy	An abnormal pregnancy in which the conception is implanted outside the endometrial cavity.	DOVES_relaxed.owl
MONDO:0001283	biolink:NamedThing	endosalpingiosis	A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain.	DOVES_relaxed.owl
MONDO:0001433	biolink:NamedThing	vaginal disorder	A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma.	DOVES_relaxed.owl
MONDO:0001592	biolink:NamedThing	prolapse of female genital organ		DOVES_relaxed.owl
MONDO:0001836	biolink:NamedThing	amenorrhea	The absence of menses in a woman who has achieved reproductive age.	DOVES_relaxed.owl
MONDO:0001887	biolink:NamedThing	Allen-Masters syndrome	A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix.	DOVES_relaxed.owl
MONDO:0002156	biolink:NamedThing	fallopian tube disorder	A disease involving the fallopian tube.	DOVES_relaxed.owl
MONDO:0002187	biolink:NamedThing	vulvar disease	A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma.	DOVES_relaxed.owl
MONDO:0002946	biolink:NamedThing	gynatresia	A congenital or acquired occlusion of an opening in any part of the female genital tract.	DOVES_relaxed.owl
MONDO:0004169	biolink:NamedThing	premenstrual tension	A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.	DOVES_relaxed.owl
MONDO:0015299	biolink:NamedThing	Asherman syndrome		DOVES_relaxed.owl
MONDO:0015828	biolink:NamedThing	uterovaginal malformation		DOVES_relaxed.owl
MONDO:0015860	biolink:NamedThing	anomaly of puberty or/and menstrual cycle		DOVES_relaxed.owl
MONDO:0015932	biolink:NamedThing	non-syndromic urogenital tract malformation of female	A non-syndromic urogenital tract malformation that involves the female organism.	DOVES_relaxed.owl
MONDO:0017200	biolink:NamedThing	polycystic ovaries-urethral sphincter dysfunction syndrome	Polycystic ovaries-urethral sphincter dysfunction syndrome is characterised by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries.	DOVES_relaxed.owl
MONDO:0017962	biolink:NamedThing	46,XX disorder of sex development induced by fetoplacental androgens excess		DOVES_relaxed.owl
MONDO:0018987	biolink:NamedThing	granulomatous mastitis	A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives.	DOVES_relaxed.owl
MONDO:0019370	biolink:NamedThing	vulvovaginal gingival syndrome		DOVES_relaxed.owl
MONDO:0019593	biolink:NamedThing	46,XX disorder of sex development induced by fetal androgens excess		DOVES_relaxed.owl
MONDO:0021124	biolink:NamedThing	female infertility	Diminished or absent ability of a female to achieve conception.	DOVES_relaxed.owl
MONDO:0021396	biolink:NamedThing	polyp of vulva	A polyp that involves the mammalian vulva.	DOVES_relaxed.owl
MONDO:0021642	biolink:NamedThing	vulval varices	A varicose disease that involves the mammalian vulva.	DOVES_relaxed.owl
MONDO:0021722	biolink:NamedThing	vulvodynia	Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months.	DOVES_relaxed.owl
MONDO:0000756	biolink:NamedThing	parameningeal embryonal rhabdomyosarcoma	An embryonal rhabdomyosarcoma located in the parameningeal region.	DOVES_relaxed.owl
MONDO:0009993	biolink:NamedThing	embryonal rhabdomyosarcoma	A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.	DOVES_relaxed.owl
MONDO:0002574	biolink:NamedThing	prostate embryonal rhabdomyosarcoma	A malignant mesenchymal neoplasm of the prostate. It is characterized by the presence of skeletal muscle exhibiting embryonic features.	DOVES_relaxed.owl
MONDO:0002576	biolink:NamedThing	embryonal extrahepatic bile duct rhabdomyosarcoma	An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts.	DOVES_relaxed.owl
MONDO:0002578	biolink:NamedThing	botryoid rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.	DOVES_relaxed.owl
MONDO:0002579	biolink:NamedThing	orbit embryonal rhabdomyosarcoma	A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features.	DOVES_relaxed.owl
MONDO:0000757	biolink:NamedThing	glucocorticoid-induced osteoporosis	An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.	DOVES_relaxed.owl
MONDO:0024651	biolink:NamedThing	corticosteroid-induced osteoporosis		DOVES_relaxed.owl
MONDO:0000758	biolink:NamedThing	bacillary angiomatosis	A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals.	DOVES_relaxed.owl
MONDO:0005692	biolink:NamedThing	cat-scratch disease	Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery.	DOVES_relaxed.owl
MONDO:0018984	biolink:NamedThing	Oroya fever	An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise.	DOVES_relaxed.owl
MONDO:0021440	biolink:NamedThing	benign neoplasm of skin	A benign neoplasm that involves the zone of skin.	DOVES_relaxed.owl
MONDO:0000964	biolink:NamedThing	skin lipoma	A benign or malignant adipose tissue neoplasm of the skin.	DOVES_relaxed.owl
MONDO:0003291	biolink:NamedThing	leiomyoma cutis	A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0005073	biolink:NamedThing	melanocytic nevus	A neoplasm composed of melanocytes that usually appears as a dark spot on the skin.	DOVES_relaxed.owl
MONDO:0013074	biolink:NamedThing	encephalocraniocutaneous lipomatosis	A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.	DOVES_relaxed.owl
MONDO:0016824	biolink:NamedThing	infantile myofibromatosis	A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.	DOVES_relaxed.owl
MONDO:0021489	biolink:NamedThing	benign neoplasm of sweat gland	A benign neoplasm that involves the sweat gland.	DOVES_relaxed.owl
MONDO:0021490	biolink:NamedThing	benign neoplasm of sebaceous gland	A benign neoplasm that involves the sebaceous gland.	DOVES_relaxed.owl
MONDO:0021605	biolink:NamedThing	benign eyelid neoplasm	A non-metastasizing neoplasm that arises from the upper or lower eyelid.	DOVES_relaxed.owl
MONDO:0024666	biolink:NamedThing	benign epithelial skin neoplasm	A form of epithelial skin neoplasm without malignant characteristics.	DOVES_relaxed.owl
MONDO:0001266	biolink:NamedThing	erysipelas	An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch.	DOVES_relaxed.owl
MONDO:0004215	biolink:NamedThing	cutaneous anthrax	An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center.	DOVES_relaxed.owl
MONDO:0004592	biolink:NamedThing	impetigo	A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs.	DOVES_relaxed.owl
MONDO:0004852	biolink:NamedThing	gonococcal keratitis		DOVES_relaxed.owl
MONDO:0005230	biolink:NamedThing	cellulitis	Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area.	DOVES_relaxed.owl
MONDO:0005767	biolink:NamedThing	gas gangrene	A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases.	DOVES_relaxed.owl
MONDO:0005800	biolink:NamedThing	hordeolum	An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess.	DOVES_relaxed.owl
MONDO:0006718	biolink:NamedThing	cutaneous syphilis	Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)	DOVES_relaxed.owl
MONDO:0018181	biolink:NamedThing	staphylococcal scalded skin syndrome	A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection.	DOVES_relaxed.owl
MONDO:0018182	biolink:NamedThing	bullous impetigo	Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus.	DOVES_relaxed.owl
MONDO:0024461	biolink:NamedThing	angiomatosis	A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling.	DOVES_relaxed.owl
MONDO:0043349	biolink:NamedThing	intravascular papillary endothelial hyperplasia	A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present.	DOVES_relaxed.owl
MONDO:0000763	biolink:NamedThing	epithelial and subepithelial corneal dystrophy		DOVES_relaxed.owl
MONDO:0000764	biolink:NamedThing	epithelial-stromal TGFBI dystrophy	Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene.	DOVES_relaxed.owl
MONDO:0000766	biolink:NamedThing	corneal endothelial dystrophy	A corneal dystrophy (disease) that involves the corneal epithelium.	DOVES_relaxed.owl
MONDO:0009016	biolink:NamedThing	band keratopathy	The deposition of calcium on the cornea, resulting in pain and decreased visual acuity.	DOVES_relaxed.owl
MONDO:0020212	biolink:NamedThing	superficial corneal dystrophy	The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.	DOVES_relaxed.owl
MONDO:0020213	biolink:NamedThing	stromal corneal dystrophy	The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.	DOVES_relaxed.owl
MONDO:0020214	biolink:NamedThing	posterior corneal dystrophy	Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.	DOVES_relaxed.owl
MONDO:0000769	biolink:NamedThing	chicken egg allergy	An egg allergy triggered by Gallus gallus eggs.	DOVES_relaxed.owl
MONDO:0005271	biolink:NamedThing	allergic disease	An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures.	DOVES_relaxed.owl
MONDO:0000770	biolink:NamedThing	shellfish allergy	Allergic reaction to shellfish or shellfish products.	DOVES_relaxed.owl
MONDO:0000775	biolink:NamedThing	drug allergy	Immunologically mediated adverse reactions to medicinal substances used legally or illegally.	DOVES_relaxed.owl
MONDO:0000777	biolink:NamedThing	gastrointestinal allergy	A allergic disease that involves the digestive tract.	DOVES_relaxed.owl
MONDO:0000778	biolink:NamedThing	fruit allergy	A food allergy triggered by a plant fruit product.	DOVES_relaxed.owl
MONDO:0000807	biolink:NamedThing	latex allergy	Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein.	DOVES_relaxed.owl
MONDO:0005202	biolink:NamedThing	atopic IgE-mediated allergic disorder	A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms.	DOVES_relaxed.owl
MONDO:0005849	biolink:NamedThing	milk allergic reaction	Allergic reaction to milk (usually cow's milk) or milk products. milk hypersensitivity should be differentiated from lactose intolerance, an intolerance to milk as a result of congenital deficiency of lactase.	DOVES_relaxed.owl
MONDO:0005902	biolink:NamedThing	peanut allergic reaction	Allergic reaction to peanuts that is triggered by the immune system.	DOVES_relaxed.owl
MONDO:0008669	biolink:NamedThing	vulvovaginitis, allergic seminal		DOVES_relaxed.owl
MONDO:0014218	biolink:NamedThing	severe dermatitis-multiple allergies-metabolic wasting syndrome		DOVES_relaxed.owl
MONDO:0021202	biolink:NamedThing	allergic otitis media	A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction.	DOVES_relaxed.owl
MONDO:0100001	biolink:NamedThing	alpha-gal syndrome	An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal).	DOVES_relaxed.owl
MONDO:0600005	biolink:NamedThing	venom allergy	An allergic disease involving venom.	DOVES_relaxed.owl
MONDO:0000774	biolink:NamedThing	autoimmune neuropathy	An autoimmune form of peripheral neuropathy.	DOVES_relaxed.owl
MONDO:0009688	biolink:NamedThing	myasthenia gravis	Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.	DOVES_relaxed.owl
MONDO:0031013	biolink:NamedThing	autoimmune optic neuritis	An autoimmune form of optic neuritis.	DOVES_relaxed.owl
MONDO:0001300	biolink:NamedThing	autonomic neuropathy	An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities.	DOVES_relaxed.owl
MONDO:0001397	biolink:NamedThing	mononeuropathy	Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions.	DOVES_relaxed.owl
MONDO:0001408	biolink:NamedThing	ischemic neuropathy	Neuropathy that is caused by inadequate blood supply.	DOVES_relaxed.owl
MONDO:0001824	biolink:NamedThing	polyneuropathy	A disease or disorder affecting more than one nerve.	DOVES_relaxed.owl
MONDO:0002316	biolink:NamedThing	motor peripheral neuropathy	Inflammation or degeneration of the peripheral motor nerves.	DOVES_relaxed.owl
MONDO:0002321	biolink:NamedThing	sensory peripheral neuropathy	Inflammation or degeneration of the sensory nerves.	DOVES_relaxed.owl
MONDO:0003084	biolink:NamedThing	uremic neuropathy	Neuropathy resulting from uremia.	DOVES_relaxed.owl
MONDO:0003615	biolink:NamedThing	nerve compression syndrome	Any nerve disorder caused by the entrapment and compression of a nerve.	DOVES_relaxed.owl
MONDO:0006626	biolink:NamedThing	diabetic neuropathy	A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction.	DOVES_relaxed.owl
MONDO:0015923	biolink:NamedThing	acquired peripheral neuropathy	An instance of peripheral neuropathy that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0021667	biolink:NamedThing	neuralgia	A pain disorder characterize by pain in the distribution of a nerve or nerves	DOVES_relaxed.owl
MONDO:0024334	biolink:NamedThing	peripheral nerve lesion		DOVES_relaxed.owl
MONDO:0024432	biolink:NamedThing	nerve plexus disorder	A disease that involves the nerve plexus.	DOVES_relaxed.owl
MONDO:0100061	biolink:NamedThing	PRPS1 deficiency disorder	A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss.	DOVES_relaxed.owl
MONDO:0800207	biolink:NamedThing	neuropathy, small fiber		DOVES_relaxed.owl
MONDO:0000781	biolink:NamedThing	cherry allergy	A fruit allergy triggered by Prunus avium plant fruit food product.	DOVES_relaxed.owl
MONDO:0000782	biolink:NamedThing	Indian plum allergy	A fruit allergy triggered by Ziziphus mauritiana plant fruit food product.	DOVES_relaxed.owl
MONDO:0000783	biolink:NamedThing	orange allergy	A fruit allergy triggered by Citrus sinensis plant fruit food product.	DOVES_relaxed.owl
MONDO:0000784	biolink:NamedThing	melon allergy	A fruit allergy triggered by Cucumis melo plant fruit food product.	DOVES_relaxed.owl
MONDO:0000809	biolink:NamedThing	purpura fulminans	A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation.	DOVES_relaxed.owl
MONDO:0001243	biolink:NamedThing	disseminated intravascular coagulation	A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage.	DOVES_relaxed.owl
MONDO:0001242	biolink:NamedThing	disseminated intravascular coagulation in newborn	A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn.	DOVES_relaxed.owl
MONDO:0006792	biolink:NamedThing	hyperglobulinemic purpura	Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years.	DOVES_relaxed.owl
MONDO:0000811	biolink:NamedThing	anomalous left coronary artery from the pulmonary artery	A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life.	DOVES_relaxed.owl
MONDO:0000814	biolink:NamedThing	B-cell adult acute lymphocytic leukemia	An acute B-lymphoblastic leukemia occurring in adults.	DOVES_relaxed.owl
MONDO:0000872	biolink:NamedThing	B-cell childhood acute lymphoblastic leukemia	An acute B-lymphoblastic leukemia occurring in children.	DOVES_relaxed.owl
MONDO:0003541	biolink:NamedThing	adult acute lymphoblastic leukemia	An acute lymphoblastic leukemia occurring during adulthood.	DOVES_relaxed.owl
MONDO:0003539	biolink:NamedThing	T-cell adult acute lymphocytic leukemia	An acute T-lymphoblastic leukemia occurring in adults.	DOVES_relaxed.owl
MONDO:0003660	biolink:NamedThing	adult lymphoma	A lymphoma that occurs in an adult.	DOVES_relaxed.owl
MONDO:0019478	biolink:NamedThing	adult nodular lymphocyte predominant Hodgkin lymphoma	A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults.	DOVES_relaxed.owl
MONDO:0003916	biolink:NamedThing	overnutrition	An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity.	DOVES_relaxed.owl
MONDO:0004937	biolink:NamedThing	hypervitaminosis D		DOVES_relaxed.owl
MONDO:0006798	biolink:NamedThing	hypervitaminosis A	A symptom complex resulting from ingesting excessive amounts of vitamin A.	DOVES_relaxed.owl
MONDO:0011122	biolink:NamedThing	obesity disorder	A disorder involving an excessive amount of body fat.	DOVES_relaxed.owl
MONDO:0000828	biolink:NamedThing	juvenile-onset Parkinson disease		DOVES_relaxed.owl
MONDO:0017279	biolink:NamedThing	young-onset Parkinson disease	A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.	DOVES_relaxed.owl
MONDO:0010360	biolink:NamedThing	parkinson disease 12		DOVES_relaxed.owl
MONDO:0010820	biolink:NamedThing	autosomal recessive juvenile Parkinson disease 2	A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia.	DOVES_relaxed.owl
MONDO:0011220	biolink:NamedThing	parkinson disease 3, autosomal dominant		DOVES_relaxed.owl
MONDO:0011613	biolink:NamedThing	autosomal recessive early-onset Parkinson disease 6	Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene.	DOVES_relaxed.owl
MONDO:0011658	biolink:NamedThing	autosomal recessive early-onset Parkinson disease 7	Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene.	DOVES_relaxed.owl
MONDO:0011737	biolink:NamedThing	parkinson disease 10		DOVES_relaxed.owl
MONDO:0014233	biolink:NamedThing	early-onset Parkinson disease 20	Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene.	DOVES_relaxed.owl
MONDO:0014796	biolink:NamedThing	autosomal recessive early-onset Parkinson disease 23	Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene.	DOVES_relaxed.owl
MONDO:0000833	biolink:NamedThing	bone remodeling disease	A bone disease that results in formation or resorption abnormalities located in bone.	DOVES_relaxed.owl
MONDO:0000836	biolink:NamedThing	disease of bone structure		DOVES_relaxed.owl
MONDO:0001586	biolink:NamedThing	mucopolysaccharidosis type 1	The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).	DOVES_relaxed.owl
MONDO:0005380	biolink:NamedThing	osteonecrosis	A none disease characterized by death of bone tissue due to a lack of blood supply.	DOVES_relaxed.owl
MONDO:0007392	biolink:NamedThing	coxoauricular syndrome	Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.	DOVES_relaxed.owl
MONDO:0011093	biolink:NamedThing	mucopolysaccharidosis type 9	An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.	DOVES_relaxed.owl
MONDO:0016524	biolink:NamedThing	congenital vascular bone syndrome	An alteration in limb growth caused by congenital vascular malformations in childhood.	DOVES_relaxed.owl
MONDO:0017584	biolink:NamedThing	Sagliker syndrome	A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face	DOVES_relaxed.owl
MONDO:0017930	biolink:NamedThing	mixed sclerosing bone dystrophy with extra-skeletal manifestations		DOVES_relaxed.owl
MONDO:0018149	biolink:NamedThing	GM1 gangliosidosis	A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.	DOVES_relaxed.owl
MONDO:0024654	biolink:NamedThing	skull disorder	A non-neoplastic or neoplastic disorder that affects structures of the skull.	DOVES_relaxed.owl
MONDO:0035452	biolink:NamedThing	mueller-weiss syndrome	A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures.	DOVES_relaxed.owl
MONDO:0100068	biolink:NamedThing	SLC10A7-congenital disorder of glycosylation	SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen.	DOVES_relaxed.owl
MONDO:0000837	biolink:NamedThing	bone resorption disease	A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.	DOVES_relaxed.owl
MONDO:0000845	biolink:NamedThing	fibrous dysplasia	A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures.	DOVES_relaxed.owl
MONDO:0001068	biolink:NamedThing	osteomalacia	A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003	DOVES_relaxed.owl
MONDO:0002185	biolink:NamedThing	hyperostosis	Excessive thickening of bone.	DOVES_relaxed.owl
MONDO:0002933	biolink:NamedThing	osteosclerosis	Abnormally high bone density.	DOVES_relaxed.owl
MONDO:0005520	biolink:NamedThing	rickets	Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities.	DOVES_relaxed.owl
MONDO:0000840	biolink:NamedThing	dysbaric osteonecrosis	A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism.	DOVES_relaxed.owl
MONDO:0018373	biolink:NamedThing	avascular necrosis	Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure.	DOVES_relaxed.owl
MONDO:0018374	biolink:NamedThing	secondary avascular necrosis		DOVES_relaxed.owl
MONDO:0018379	biolink:NamedThing	primary avascular necrosis		DOVES_relaxed.owl
MONDO:0018384	biolink:NamedThing	avascular necrosis of genetic origin	An instance of avascular necrosis that is caused by a modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0018919	biolink:NamedThing	McCune-Albright syndrome	McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP).	DOVES_relaxed.owl
MONDO:0000858	biolink:NamedThing	neuronal intestinal dysplasia		DOVES_relaxed.owl
MONDO:0001272	biolink:NamedThing	functional diarrhea		DOVES_relaxed.owl
MONDO:0001273	biolink:NamedThing	megacolon	An abnormal dilation of the colon not due to obstruction.	DOVES_relaxed.owl
MONDO:0001674	biolink:NamedThing	diverticulitis of colon	Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation.	DOVES_relaxed.owl
MONDO:0002031	biolink:NamedThing	cecal disorder	Pathological developments in the cecum.	DOVES_relaxed.owl
MONDO:0002139	biolink:NamedThing	sigmoid disease	Pathological processes in the sigmoid colon region of the large intestine (intestine, large).	DOVES_relaxed.owl
MONDO:0002802	biolink:NamedThing	functional colonic disease	Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category.	DOVES_relaxed.owl
MONDO:0005401	biolink:NamedThing	colonic neoplasm	A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	DOVES_relaxed.owl
MONDO:0006151	biolink:NamedThing	colon dysplasia	A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion.	DOVES_relaxed.owl
MONDO:0021400	biolink:NamedThing	polyp of colon	A polyp that involves the colon.	DOVES_relaxed.owl
MONDO:0043343	biolink:NamedThing	Chilaiditi syndrome	Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition.	DOVES_relaxed.owl
MONDO:0000859	biolink:NamedThing	spina bifida occulta	The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic.	DOVES_relaxed.owl
MONDO:0019351	biolink:NamedThing	isolated spina bifida	A spina bifida (disease) that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0007109	biolink:NamedThing	congenital dyserythropoietic anemia type 3	Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.	DOVES_relaxed.owl
MONDO:0009134	biolink:NamedThing	congenital dyserythropoietic anemia type 2	Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.	DOVES_relaxed.owl
MONDO:0011469	biolink:NamedThing	congenital amegakaryocytic thrombocytopenia	Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.	DOVES_relaxed.owl
MONDO:0013355	biolink:NamedThing	congenital dyserythropoietic anemia type 4	Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.	DOVES_relaxed.owl
MONDO:0014094	biolink:NamedThing	severe congenital hypochromic anemia with ringed sideroblasts	STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.	DOVES_relaxed.owl
MONDO:0020337	biolink:NamedThing	congenital dyserythropoietic anemia type 1	Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.	DOVES_relaxed.owl
MONDO:0004675	biolink:NamedThing	mitochondrial encephalomyopathy	A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)	DOVES_relaxed.owl
MONDO:0009282	biolink:NamedThing	multiple acyl-CoA dehydrogenase deficiency	A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.	DOVES_relaxed.owl
MONDO:0009638	biolink:NamedThing	mitochondrial myopathy with a defect in mitochondrial-protein transport		DOVES_relaxed.owl
MONDO:0010543	biolink:NamedThing	Barth syndrome	Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.	DOVES_relaxed.owl
MONDO:0010773	biolink:NamedThing	myopathy and diabetes mellitus		DOVES_relaxed.owl
MONDO:0010780	biolink:NamedThing	mitochondrial myopathy with reversible cytochrome C oxidase deficiency		DOVES_relaxed.owl
MONDO:0010792	biolink:NamedThing	lethal infantile mitochondrial myopathy	Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.	DOVES_relaxed.owl
MONDO:0013028	biolink:NamedThing	adenosine monophosphate deaminase deficiency	Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.	DOVES_relaxed.owl
MONDO:0016825	biolink:NamedThing	mitochondrial myopathy-lactic acidosis-deafness syndrome	Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.	DOVES_relaxed.owl
MONDO:0020714	biolink:NamedThing	mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy		DOVES_relaxed.owl
MONDO:0031230	biolink:NamedThing	mitochondrial complex II deficiency, nuclear type		DOVES_relaxed.owl
MONDO:0100224	biolink:NamedThing	mitochondrial complex I deficiency, nuclear type 1		DOVES_relaxed.owl
MONDO:0010524	biolink:NamedThing	X-linked sideroblastic anemia with ataxia	A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.	DOVES_relaxed.owl
MONDO:0014487	biolink:NamedThing	congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.	DOVES_relaxed.owl
MONDO:0020721	biolink:NamedThing	X-linked sideroblastic anemia 1		DOVES_relaxed.owl
MONDO:0030436	biolink:NamedThing	anemia, sideroblastic, 5		DOVES_relaxed.owl
MONDO:0000870	biolink:NamedThing	childhood acute lymphoblastic leukemia	An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias.	DOVES_relaxed.owl
MONDO:0003659	biolink:NamedThing	pediatric lymphoma	A Hodgkin or non-Hodgkin lymphoma that occurs during childhood.	DOVES_relaxed.owl
MONDO:0000874	biolink:NamedThing	T-cell childhood lymphoblastic lymphoma	A T lymphoblastic lymphoma that occurs during childhood.	DOVES_relaxed.owl
MONDO:0004355	biolink:NamedThing	childhood leukemia	An acute or chronic leukemia that occurs during childhood.	DOVES_relaxed.owl
MONDO:0004354	biolink:NamedThing	neonatal leukemia	Leukemia that occurs during the neonatal period.	DOVES_relaxed.owl
MONDO:0004996	biolink:NamedThing	childhood acute myeloid leukemia	Acute myeloid leukemia occurring in childhood.	DOVES_relaxed.owl
MONDO:0004967	biolink:NamedThing	acute lymphoblastic leukemia	Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.	DOVES_relaxed.owl
MONDO:0001023	biolink:NamedThing	prolymphocytic leukemia	A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.	DOVES_relaxed.owl
MONDO:0003540	biolink:NamedThing	acute T cell leukemia		DOVES_relaxed.owl
MONDO:0004932	biolink:NamedThing	null-cell leukemia		DOVES_relaxed.owl
MONDO:0004947	biolink:NamedThing	B-cell acute lymphoblastic leukemia	A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0004948	biolink:NamedThing	B-cell chronic lymphocytic leukemia	B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.	DOVES_relaxed.owl
MONDO:0004963	biolink:NamedThing	T-cell acute lymphoblastic leukemia	Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0009539	biolink:NamedThing	lymphoblastic leukemia, acute, with lymphomatous features		DOVES_relaxed.owl
MONDO:0018689	biolink:NamedThing	plasma cell leukemia	An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count.	DOVES_relaxed.owl
MONDO:0020322	biolink:NamedThing	acute biphenotypic leukemia	An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0020511	biolink:NamedThing	precursor B-cell acute lymphoblastic leukemia	The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0020512	biolink:NamedThing	precursor T-cell acute lymphoblastic leukemia		DOVES_relaxed.owl
MONDO:0002966	biolink:NamedThing	splenic manifestation of prolymphocytic leukemia	A prolymphocytic leukemia that involves the spleen.	DOVES_relaxed.owl
MONDO:0003988	biolink:NamedThing	sternum lymphoma	A rare lymphoma that arises from the bone or soft tissue of the sternum.	DOVES_relaxed.owl
MONDO:0004104	biolink:NamedThing	splenic manifestation of hairy cell leukemia	A hairy cell leukemia that involves the spleen.	DOVES_relaxed.owl
MONDO:0000871	biolink:NamedThing	T-cell childhood acute lymphocytic leukemia	An acute lymphoblastic leukemia of T-cell origin occurring in children.	DOVES_relaxed.owl
MONDO:0004403	biolink:NamedThing	childhood precursor T-lymphoblastic lymphoma/leukemia	A T lymphoblastic leukemia/lymphoma that occurs during childhood.	DOVES_relaxed.owl
MONDO:0019468	biolink:NamedThing	T-cell prolymphocytic leukemia	A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line.	DOVES_relaxed.owl
MONDO:0100291	biolink:NamedThing	early T cell progenitor acute lymphoblastic leukemia	T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation.	DOVES_relaxed.owl
MONDO:0000873	biolink:NamedThing	lymphoblastic lymphoma	A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma.	DOVES_relaxed.owl
MONDO:0003538	biolink:NamedThing	precursor lymphoblastic lymphoma/leukemia	A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003	DOVES_relaxed.owl
MONDO:0003537	biolink:NamedThing	precursor T-lymphoblastic lymphoma/leukemia	A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0035605	biolink:NamedThing	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality		DOVES_relaxed.owl
MONDO:0018908	biolink:NamedThing	non-Hodgkin lymphoma	Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage.	DOVES_relaxed.owl
MONDO:0004638	biolink:NamedThing	lymphosarcoma	An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes.	DOVES_relaxed.owl
MONDO:0011508	biolink:NamedThing	lymphoma, non-Hodgkin, familial		DOVES_relaxed.owl
MONDO:0020644	biolink:NamedThing	lung non-Hodgkin lymphoma	A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma.	DOVES_relaxed.owl
MONDO:0020646	biolink:NamedThing	ocular adnexal lymphoma	A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type.	DOVES_relaxed.owl
MONDO:0022037	biolink:NamedThing	large-cell immunoblastic lymphoma	Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan.	DOVES_relaxed.owl
MONDO:0042493	biolink:NamedThing	gastric non-hodgkin lymphoma	An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.	DOVES_relaxed.owl
MONDO:0000875	biolink:NamedThing	adult acute monocytic leukemia	A acute monocytic leukemia that occurs in an adult.	DOVES_relaxed.owl
MONDO:0007896	biolink:NamedThing	acute monocytic leukemia	Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).	DOVES_relaxed.owl
MONDO:0004051	biolink:NamedThing	aleukemic monocytic leukemia cutis		DOVES_relaxed.owl
MONDO:0004644	biolink:NamedThing	subacute monocytic leukemia		DOVES_relaxed.owl
MONDO:0000878	biolink:NamedThing	cytomegalovirus retinitis	Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness.	DOVES_relaxed.owl
MONDO:0002708	biolink:NamedThing	retinitis	Inflammation of the retina.	DOVES_relaxed.owl
MONDO:0001263	biolink:NamedThing	histoplasmosis retinitis	An retinitis caused by infection with Histoplasma capsulatum.	DOVES_relaxed.owl
MONDO:0006879	biolink:NamedThing	optic papillitis	Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)	DOVES_relaxed.owl
MONDO:0006950	biolink:NamedThing	retinal vasculitis	Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis.	DOVES_relaxed.owl
MONDO:0005132	biolink:NamedThing	cytomegalovirus infection	A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies.	DOVES_relaxed.owl
MONDO:0024354	biolink:NamedThing	cytomegalovirus pneumonia	Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating.	DOVES_relaxed.owl
MONDO:0004853	biolink:NamedThing	gonococcal endophthalmia		DOVES_relaxed.owl
MONDO:0004863	biolink:NamedThing	purulent endophthalmitis		DOVES_relaxed.owl
MONDO:0017209	biolink:NamedThing	infectious posterior uveitis		DOVES_relaxed.owl
MONDO:0017210	biolink:NamedThing	infectious anterior uveitis	An infectious disease involving a pathogenic inflammatory response in the anterior uvea.	DOVES_relaxed.owl
MONDO:0017211	biolink:NamedThing	infectious panuveitis		DOVES_relaxed.owl
MONDO:0023865	biolink:NamedThing	corneal infection	A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering.	DOVES_relaxed.owl
MONDO:0005883	biolink:NamedThing	ophthalmic herpes zoster	Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve.	DOVES_relaxed.owl
MONDO:0005981	biolink:NamedThing	tick paralysis	Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks.	DOVES_relaxed.owl
MONDO:0008039	biolink:NamedThing	tropical spastic paraparesis	Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.	DOVES_relaxed.owl
MONDO:0850107	biolink:NamedThing	postinfectious cerebellitis		DOVES_relaxed.owl
MONDO:0001615	biolink:NamedThing	epidemic keratoconjunctivitis	Keratoconjunctivitis resulting from infection by adenoviruses.	DOVES_relaxed.owl
MONDO:0005634	biolink:NamedThing	acute hemorrhagic conjunctivitis	Acute conjunctivitis that is characterized by bleeding into the conjunctiva.	DOVES_relaxed.owl
MONDO:0015288	biolink:NamedThing	herpes simplex virus keratitis	A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)	DOVES_relaxed.owl
MONDO:0015289	biolink:NamedThing	infectious epithelial keratitis	Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.	DOVES_relaxed.owl
MONDO:0021032	biolink:NamedThing	herpes zoster with dermatitis of eyelid	A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve.	DOVES_relaxed.owl
MONDO:0002026	biolink:NamedThing	candidiasis	Infection with the organism Candida.	DOVES_relaxed.owl
MONDO:0001648	biolink:NamedThing	esophageal candidiasis	Esophagitis resulting from Candida.	DOVES_relaxed.owl
MONDO:0001984	biolink:NamedThing	candidal paronychia	A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury.	DOVES_relaxed.owl
MONDO:0004824	biolink:NamedThing	neonatal candidiasis	A fungal infection by any of the Candida species in a newborn infant up to 28 days old.	DOVES_relaxed.owl
MONDO:0022636	biolink:NamedThing	candida glabrata infection		DOVES_relaxed.owl
MONDO:0023415	biolink:NamedThing	congenital candidiasis	A fungal infection by any of the Candida species that is present at birth.	DOVES_relaxed.owl
MONDO:0044067	biolink:NamedThing	candidiasis, invasive	A fungal infection by any of the Candida species in a sterile body compartment.	DOVES_relaxed.owl
MONDO:0000884	biolink:NamedThing	myeloid and lymphoid neoplasms associated with FGFR1 abnormalities		DOVES_relaxed.owl
MONDO:0015688	biolink:NamedThing	myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2		DOVES_relaxed.owl
MONDO:0013296	biolink:NamedThing	myeloid neoplasm associated with FGFR1 rearrangement	Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype.	DOVES_relaxed.owl
MONDO:0015689	biolink:NamedThing	myeloid neoplasm associated with PDGFRA rearrangement	A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.	DOVES_relaxed.owl
MONDO:0015690	biolink:NamedThing	myeloid neoplasm associated with PDGFRB rearrangement	A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.	DOVES_relaxed.owl
MONDO:0035121	biolink:NamedThing	myeloid/lymphoid neoplasm associated with JAK2 rearrangement		DOVES_relaxed.owl
MONDO:0000918	biolink:NamedThing	endometritis	An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding.	DOVES_relaxed.owl
MONDO:0003014	biolink:NamedThing	rhinitis	An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge.	DOVES_relaxed.owl
MONDO:0004842	biolink:NamedThing	stomatitis	Inflammation of the oral mucosa due to local or systemic factors.	DOVES_relaxed.owl
MONDO:0000889	biolink:NamedThing	haemophilus meningitis	Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults.	DOVES_relaxed.owl
MONDO:0001316	biolink:NamedThing	streptococcal meningitis	An infectious meningitis caused by infection with Streptococcus.	DOVES_relaxed.owl
MONDO:0002000	biolink:NamedThing	anaerobic meningitis		DOVES_relaxed.owl
MONDO:0006042	biolink:NamedThing	meningeal tuberculosis	A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis.	DOVES_relaxed.owl
MONDO:0006753	biolink:NamedThing	Escherichia coli meningitis	A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)	DOVES_relaxed.owl
MONDO:0006836	biolink:NamedThing	Listeria meningitis	Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36)	DOVES_relaxed.owl
MONDO:0018059	biolink:NamedThing	meningococcal meningitis	An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.	DOVES_relaxed.owl
MONDO:0041825	biolink:NamedThing	bacterial meningitis caused by gram-negative bacteria		DOVES_relaxed.owl
MONDO:0015564	biolink:NamedThing	Castleman disease	Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.	DOVES_relaxed.owl
MONDO:0015592	biolink:NamedThing	limbic encephalitis with LGI1 antibodies	Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.	DOVES_relaxed.owl
MONDO:0019208	biolink:NamedThing	Bickerstaff brainstem encephalitis	Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma).	DOVES_relaxed.owl
MONDO:0023528	biolink:NamedThing	KSHV inflammatory cytokine syndrome	A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma.	DOVES_relaxed.owl
MONDO:0043275	biolink:NamedThing	TORCH syndrome	A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly.	DOVES_relaxed.owl
MONDO:0000891	biolink:NamedThing	mixed fibrolamellar hepatocellular carcinoma	A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components.	DOVES_relaxed.owl
MONDO:0006210	biolink:NamedThing	fibrolamellar hepatocellular carcinoma	A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers.	DOVES_relaxed.owl
MONDO:0000892	biolink:NamedThing	colon medullary carcinoma	A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.	DOVES_relaxed.owl
MONDO:0002271	biolink:NamedThing	colon adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the colon	DOVES_relaxed.owl
MONDO:0002495	biolink:NamedThing	colon signet ring cell adenocarcinoma	An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells.	DOVES_relaxed.owl
MONDO:0002496	biolink:NamedThing	submucosal invasive colon adenocarcinoma	An adenocarcinoma of the colon that has invaded into the submucosa.	DOVES_relaxed.owl
MONDO:0005007	biolink:NamedThing	colon mucinous adenocarcinoma	An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.	DOVES_relaxed.owl
MONDO:0006028	biolink:NamedThing	cecum adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the caecum	DOVES_relaxed.owl
MONDO:0020794	biolink:NamedThing	colorectal medullary carcinoma	A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.	DOVES_relaxed.owl
MONDO:0020801	biolink:NamedThing	rectal medullary carcinoma	A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.	DOVES_relaxed.owl
MONDO:0000893	biolink:NamedThing	mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma	A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells.	DOVES_relaxed.owl
MONDO:0000894	biolink:NamedThing	mucinous bronchioloalveolar adenocarcinoma	A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion.	DOVES_relaxed.owl
MONDO:0000895	biolink:NamedThing	nonmucinous bronchioloalveolar adenocarcinoma	A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation.	DOVES_relaxed.owl
MONDO:0002398	biolink:NamedThing	mucinous adenofibroma	A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential.	DOVES_relaxed.owl
MONDO:0006859	biolink:NamedThing	mucinous cystadenoma	A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.	DOVES_relaxed.owl
MONDO:0020596	biolink:NamedThing	mucin-producing carcinoma		DOVES_relaxed.owl
MONDO:0044879	biolink:NamedThing	pancreatic mucinous-cystic neoplasm	A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation.	DOVES_relaxed.owl
MONDO:0000898	biolink:NamedThing	malignant hemangioma	A malignant form of hemangioma.	DOVES_relaxed.owl
MONDO:0006500	biolink:NamedThing	hemangioma	A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels.	DOVES_relaxed.owl
MONDO:0001256	biolink:NamedThing	arteriovenous hemangioma/malformation	A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures.	DOVES_relaxed.owl
MONDO:0001974	biolink:NamedThing	hemangioma of orbit	A hemangioma arising from the orbit.	DOVES_relaxed.owl
MONDO:0002337	biolink:NamedThing	intra-abdominal hemangioma	A hemangioma arising from organs within the abdominal cavity.	DOVES_relaxed.owl
MONDO:0002407	biolink:NamedThing	capillary hemangioma	A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.	DOVES_relaxed.owl
MONDO:0003083	biolink:NamedThing	venous hemangioma	A rare slow growing benign tumor of aberrant and ectatic venous connections.	DOVES_relaxed.owl
MONDO:0003096	biolink:NamedThing	deep hemangioma	A hemangioma arising from the deep soft tissues.	DOVES_relaxed.owl
MONDO:0003110	biolink:NamedThing	skin hemangioma	A hemangioma arising from the skin.	DOVES_relaxed.owl
MONDO:0003115	biolink:NamedThing	subglottic hemangioma	A hemangioma arising from the subglottic area.	DOVES_relaxed.owl
MONDO:0003126	biolink:NamedThing	breast hemangioma	A capillary or cavernous hemangioma arising from the breast.	DOVES_relaxed.owl
MONDO:0003155	biolink:NamedThing	cavernous hemangioma	A hemangioma characterized by the presence of cavernous vascular spaces.	DOVES_relaxed.owl
MONDO:0003172	biolink:NamedThing	glomeruloid hemangioma		DOVES_relaxed.owl
MONDO:0003194	biolink:NamedThing	hemangioma of lung	A hemangioma that involves the lung.	DOVES_relaxed.owl
MONDO:0003206	biolink:NamedThing	acquired hemangioma	A hemangioma that is not present at birth but develops later in life.	DOVES_relaxed.owl
MONDO:0003241	biolink:NamedThing	central nervous system hemangioma	A hemangioma arising from the brain and spinal cord.	DOVES_relaxed.owl
MONDO:0003258	biolink:NamedThing	hobnail hemangioma	A hemangioma characterized by the presence of hobnail endothelial cells.	DOVES_relaxed.owl
MONDO:0004519	biolink:NamedThing	synovial angioma	A rare hemangioma arising from synovium lining surfaces.	DOVES_relaxed.owl
MONDO:0006375	biolink:NamedThing	placental hemangioma	A hemangioma arising from the fetal blood vessels in the placental villi.	DOVES_relaxed.owl
MONDO:0006557	biolink:NamedThing	hemangioma of subcutaneous tissue	A hemangioma arising from the subcutaneous soft tissues.	DOVES_relaxed.owl
MONDO:0007707	biolink:NamedThing	hemangiomas of small intestine	A hemangioma that involves the small intestine.	DOVES_relaxed.owl
MONDO:0011191	biolink:NamedThing	capillary infantile hemangioma		DOVES_relaxed.owl
MONDO:0016222	biolink:NamedThing	spindle cell hemangioma	Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis.	DOVES_relaxed.owl
MONDO:0016223	biolink:NamedThing	infantile hemangioma of rare localization		DOVES_relaxed.owl
MONDO:0018715	biolink:NamedThing	congenital hemangioma	A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH).	DOVES_relaxed.owl
MONDO:0021169	biolink:NamedThing	epithelioid hemangioma	A hemangioma characterized by the presence of epithelioid endothelial cells.	DOVES_relaxed.owl
MONDO:0021541	biolink:NamedThing	hemangioma of retina	A hemangioma that involves the retina.	DOVES_relaxed.owl
MONDO:0021542	biolink:NamedThing	hemangioma of choroid	A hemangioma that involves the optic choroid.	DOVES_relaxed.owl
MONDO:0021543	biolink:NamedThing	hemangioma of gingiva	A hemangioma that involves the gingiva.	DOVES_relaxed.owl
MONDO:0000901	biolink:NamedThing	relapsed/refractory diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission.	DOVES_relaxed.owl
MONDO:0018905	biolink:NamedThing	diffuse large B-cell lymphoma	Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common.	DOVES_relaxed.owl
MONDO:0006223	biolink:NamedThing	gastric diffuse large B-cell lymphoma	An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach.	DOVES_relaxed.owl
MONDO:0006383	biolink:NamedThing	primary cutaneous diffuse large B-cell lymphoma, Leg type	An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required.	DOVES_relaxed.owl
MONDO:0006428	biolink:NamedThing	splenic diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma occurring in the spleen.	DOVES_relaxed.owl
MONDO:0017346	biolink:NamedThing	Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly	Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate.	DOVES_relaxed.owl
MONDO:0017347	biolink:NamedThing	plasmablastic lymphoma	An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone.	DOVES_relaxed.owl
MONDO:0017596	biolink:NamedThing	diffuse large B-cell lymphoma of the central nervous system	A diffuse large B-cell lymphoma arising from the central nervous system.	DOVES_relaxed.owl
MONDO:0017597	biolink:NamedThing	T-cell/histiocyte rich large B cell lymphoma	T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course.	DOVES_relaxed.owl
MONDO:0017601	biolink:NamedThing	diffuse large B-cell lymphoma with chronic inflammation	Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.	DOVES_relaxed.owl
MONDO:0018225	biolink:NamedThing	ALK-positive large B-cell lymphoma	Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.	DOVES_relaxed.owl
MONDO:0018842	biolink:NamedThing	primary effusion lymphoma	Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).	DOVES_relaxed.owl
MONDO:0019466	biolink:NamedThing	lymphomatoid granulomatosis	Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.	DOVES_relaxed.owl
MONDO:0020323	biolink:NamedThing	primary mediastinal large B-cell lymphoma	A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0020324	biolink:NamedThing	intravascular large B-cell lymphoma	Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.	DOVES_relaxed.owl
MONDO:0044889	biolink:NamedThing	high grade B-cell lymphoma	A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.	DOVES_relaxed.owl
MONDO:0016113	biolink:NamedThing	bulbospinal muscular atrophy		DOVES_relaxed.owl
MONDO:0016114	biolink:NamedThing	bulbospinal muscular atrophy of childhood	A bulbospinal muscular atrophy that occurs during childhood.	DOVES_relaxed.owl
MONDO:0016115	biolink:NamedThing	bulbospinal muscular atrophy of adulthood	A bulbospinal muscular atrophy that occurs in an adult.	DOVES_relaxed.owl
MONDO:0016116	biolink:NamedThing	generalized bulbospinal muscular atrophy		DOVES_relaxed.owl
MONDO:0019132	biolink:NamedThing	spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome		DOVES_relaxed.owl
MONDO:0000903	biolink:NamedThing	myoclonus-dystonia syndrome	Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.	DOVES_relaxed.owl
MONDO:0019448	biolink:NamedThing	benign adult familial myoclonic epilepsy	Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.	DOVES_relaxed.owl
MONDO:0018329	biolink:NamedThing	persistent combined dystonia		DOVES_relaxed.owl
MONDO:0007496	biolink:NamedThing	dystonia 12	Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.	DOVES_relaxed.owl
MONDO:0015004	biolink:NamedThing	dystonia 28, childhood-onset	Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.	DOVES_relaxed.owl
MONDO:0016812	biolink:NamedThing	dopa-responsive dystonia	Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.	DOVES_relaxed.owl
MONDO:0018226	biolink:NamedThing	infantile epileptic-dyskinetic encephalopathy	Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.	DOVES_relaxed.owl
MONDO:0018266	biolink:NamedThing	ataxia - telangiectasia variant	Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.	DOVES_relaxed.owl
MONDO:0018267	biolink:NamedThing	combined cervical dystonia		DOVES_relaxed.owl
MONDO:0018476	biolink:NamedThing	dystonia-aphonia syndrome		DOVES_relaxed.owl
MONDO:0000908	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 13	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene.	DOVES_relaxed.owl
MONDO:0016342	biolink:NamedThing	familial isolated arrhythmogenic right ventricular dysplasia	Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.	DOVES_relaxed.owl
MONDO:0007152	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 1	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene.	DOVES_relaxed.owl
MONDO:0010975	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 2	Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the RYR2 gene.	DOVES_relaxed.owl
MONDO:0011188	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 3	An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.	DOVES_relaxed.owl
MONDO:0011189	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 4	An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.	DOVES_relaxed.owl
MONDO:0011459	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 5	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene.	DOVES_relaxed.owl
MONDO:0011460	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 6	An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.	DOVES_relaxed.owl
MONDO:0011831	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 8	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene.	DOVES_relaxed.owl
MONDO:0012180	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 9	Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene.	DOVES_relaxed.owl
MONDO:0012434	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 10	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.	DOVES_relaxed.owl
MONDO:0012506	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 11	Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene.	DOVES_relaxed.owl
MONDO:0012684	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 12	Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene.	DOVES_relaxed.owl
MONDO:0017401	biolink:NamedThing	familial isolated arrhythmogenic ventricular dysplasia, left dominant form		DOVES_relaxed.owl
MONDO:0017402	biolink:NamedThing	familial isolated arrhythmogenic ventricular dysplasia, biventricular form		DOVES_relaxed.owl
MONDO:0017403	biolink:NamedThing	familial isolated arrhythmogenic ventricular dysplasia, right dominant form		DOVES_relaxed.owl
MONDO:0030062	biolink:NamedThing	arrhythmogenic right ventricular dysplasia, familial, 14		DOVES_relaxed.owl
MONDO:0000909	biolink:NamedThing	Bartter disease type 4B	A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.	DOVES_relaxed.owl
MONDO:0019524	biolink:NamedThing	infantile Bartter syndrome with sensorineural deafness	Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II.	DOVES_relaxed.owl
MONDO:0011242	biolink:NamedThing	Bartter disease type 4a	Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.	DOVES_relaxed.owl
MONDO:0000910	biolink:NamedThing	retinitis pigmentosa 6	A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2.	DOVES_relaxed.owl
MONDO:0019200	biolink:NamedThing	retinitis pigmentosa	Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.	DOVES_relaxed.owl
MONDO:0007362	biolink:NamedThing	cone-rod dystrophy 2	Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene.	DOVES_relaxed.owl
MONDO:0008377	biolink:NamedThing	retinitis pigmentosa 1	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene.	DOVES_relaxed.owl
MONDO:0008378	biolink:NamedThing	retinitis pigmentosa 9	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene.	DOVES_relaxed.owl
MONDO:0008379	biolink:NamedThing	retinitis pigmentosa 10	Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene.	DOVES_relaxed.owl
MONDO:0008381	biolink:NamedThing	dominant pericentral pigmentary retinopathy	A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.	DOVES_relaxed.owl
MONDO:0009984	biolink:NamedThing	late-adult onset retinitis pigmentosa	A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.	DOVES_relaxed.owl
MONDO:0009987	biolink:NamedThing	autosomal recessive pericentral pigmentary retinopathy	A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy.	DOVES_relaxed.owl
MONDO:0010227	biolink:NamedThing	retinitis pigmentosa 3	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene.	DOVES_relaxed.owl
MONDO:0010259	biolink:NamedThing	retinitis pigmentosa 24	A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27.	DOVES_relaxed.owl
MONDO:0010320	biolink:NamedThing	retinitis pigmentosa 23	Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene.	DOVES_relaxed.owl
MONDO:0010374	biolink:NamedThing	retinitis pigmentosa 34	A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28.	DOVES_relaxed.owl
MONDO:0010723	biolink:NamedThing	retinitis pigmentosa 2	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene.	DOVES_relaxed.owl
MONDO:0010761	biolink:NamedThing	retinitis pigmentosa Y-linked	Y-linked form of retinitis pigmentosa.	DOVES_relaxed.owl
MONDO:0010806	biolink:NamedThing	retinitis pigmentosa 13	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.	DOVES_relaxed.owl
MONDO:0010818	biolink:NamedThing	retinitis pigmentosa 12	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.	DOVES_relaxed.owl
MONDO:0010827	biolink:NamedThing	retinitis pigmentosa 14	Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene.	DOVES_relaxed.owl
MONDO:0010828	biolink:NamedThing	retinitis pigmentosa 11	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene.	DOVES_relaxed.owl
MONDO:0010945	biolink:NamedThing	retinitis pigmentosa 17	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene.	DOVES_relaxed.owl
MONDO:0011075	biolink:NamedThing	retinitis pigmentosa 18	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.	DOVES_relaxed.owl
MONDO:0011137	biolink:NamedThing	retinitis pigmentosa 19	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene.	DOVES_relaxed.owl
MONDO:0011259	biolink:NamedThing	retinitis pigmentosa 22	A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1.	DOVES_relaxed.owl
MONDO:0011272	biolink:NamedThing	retinitis pigmentosa 25	Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene.	DOVES_relaxed.owl
MONDO:0011630	biolink:NamedThing	retinitis pigmentosa 28	Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene.	DOVES_relaxed.owl
MONDO:0011935	biolink:NamedThing	retinitis pigmentosa 30	Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.	DOVES_relaxed.owl
MONDO:0011974	biolink:NamedThing	retinitis pigmentosa 7	A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21.	DOVES_relaxed.owl
MONDO:0012024	biolink:NamedThing	retinitis pigmentosa 26	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene.	DOVES_relaxed.owl
MONDO:0012363	biolink:NamedThing	retinitis pigmentosa 32	A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.	DOVES_relaxed.owl
MONDO:0012367	biolink:NamedThing	retinitis pigmentosa 31	Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene.	DOVES_relaxed.owl
MONDO:0012463	biolink:NamedThing	retinitis pigmentosa 35	Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene.	DOVES_relaxed.owl
MONDO:0012477	biolink:NamedThing	retinitis pigmentosa 33	Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.	DOVES_relaxed.owl
MONDO:0012523	biolink:NamedThing	retinitis pigmentosa 36	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene.	DOVES_relaxed.owl
MONDO:0012625	biolink:NamedThing	retinitis pigmentosa 37	Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.	DOVES_relaxed.owl
MONDO:0012796	biolink:NamedThing	retinitis pigmentosa 41	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene.	DOVES_relaxed.owl
MONDO:0012813	biolink:NamedThing	retinitis pigmentosa 29	A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34.	DOVES_relaxed.owl
MONDO:0012943	biolink:NamedThing	retinitis pigmentosa 46	Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.	DOVES_relaxed.owl
MONDO:0013052	biolink:NamedThing	retinitis pigmentosa 42	Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene.	DOVES_relaxed.owl
MONDO:0013175	biolink:NamedThing	retinitis pigmentosa 50	Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.	DOVES_relaxed.owl
MONDO:0013263	biolink:NamedThing	retinitis pigmentosa 54	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene.	DOVES_relaxed.owl
MONDO:0013274	biolink:NamedThing	retinitis pigmentosa 51	Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene.	DOVES_relaxed.owl
MONDO:0013312	biolink:NamedThing	retinitis pigmentosa 55	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene.	DOVES_relaxed.owl
MONDO:0013314	biolink:NamedThing	retinitis pigmentosa 56	Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene.	DOVES_relaxed.owl
MONDO:0013315	biolink:NamedThing	retinitis pigmentosa 57	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene.	DOVES_relaxed.owl
MONDO:0013328	biolink:NamedThing	retinitis pigmentosa 58	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene.	DOVES_relaxed.owl
MONDO:0013348	biolink:NamedThing	cone-rod dystrophy 15	Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene.	DOVES_relaxed.owl
MONDO:0013395	biolink:NamedThing	retinitis pigmentosa 4	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene.	DOVES_relaxed.owl
MONDO:0013402	biolink:NamedThing	retinitis pigmentosa 27	Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene.	DOVES_relaxed.owl
MONDO:0013405	biolink:NamedThing	retinitis pigmentosa 49	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene.	DOVES_relaxed.owl
MONDO:0013407	biolink:NamedThing	retinitis pigmentosa 47	Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene.	DOVES_relaxed.owl
MONDO:0013413	biolink:NamedThing	retinitis pigmentosa 45	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.	DOVES_relaxed.owl
MONDO:0013414	biolink:NamedThing	retinitis pigmentosa 44	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene.	DOVES_relaxed.owl
MONDO:0013425	biolink:NamedThing	retinitis pigmentosa 20	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene.	DOVES_relaxed.owl
MONDO:0013429	biolink:NamedThing	retinitis pigmentosa 40	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene.	DOVES_relaxed.owl
MONDO:0013436	biolink:NamedThing	retinitis pigmentosa 39	Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene.	DOVES_relaxed.owl
MONDO:0013437	biolink:NamedThing	retinitis pigmentosa 43	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene.	DOVES_relaxed.owl
MONDO:0013447	biolink:NamedThing	retinitis pigmentosa 48	Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene.	DOVES_relaxed.owl
MONDO:0013468	biolink:NamedThing	retinitis pigmentosa 59	Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene.	DOVES_relaxed.owl
MONDO:0013469	biolink:NamedThing	retinitis pigmentosa 38	Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene.	DOVES_relaxed.owl
MONDO:0013516	biolink:NamedThing	retinitis pigmentosa 60	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.	DOVES_relaxed.owl
MONDO:0013610	biolink:NamedThing	retinitis pigmentosa 61	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene.	DOVES_relaxed.owl
MONDO:0013611	biolink:NamedThing	retinitis pigmentosa 62	Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene.	DOVES_relaxed.owl
MONDO:0013780	biolink:NamedThing	retinitis pigmentosa 63	A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23.	DOVES_relaxed.owl
MONDO:0013786	biolink:NamedThing	cone-rod dystrophy 16	Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene.	DOVES_relaxed.owl
MONDO:0014093	biolink:NamedThing	retinitis pigmentosa 66	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene.	DOVES_relaxed.owl
MONDO:0014186	biolink:NamedThing	retinitis pigmentosa with or without situs inversus	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene.	DOVES_relaxed.owl
MONDO:0014256	biolink:NamedThing	retinitis pigmentosa 67	Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene.	DOVES_relaxed.owl
MONDO:0014323	biolink:NamedThing	retinitis pigmentosa 68	Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene.	DOVES_relaxed.owl
MONDO:0014345	biolink:NamedThing	retinitis pigmentosa 69	Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene.	DOVES_relaxed.owl
MONDO:0014400	biolink:NamedThing	retinitis pigmentosa 70	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene.	DOVES_relaxed.owl
MONDO:0014522	biolink:NamedThing	retinal dystrophy and obesity		DOVES_relaxed.owl
MONDO:0014618	biolink:NamedThing	retinitis pigmentosa 71	Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene.	DOVES_relaxed.owl
MONDO:0014653	biolink:NamedThing	retinitis pigmentosa 72	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene.	DOVES_relaxed.owl
MONDO:0014687	biolink:NamedThing	retinitis pigmentosa 73	Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene.	DOVES_relaxed.owl
MONDO:0014692	biolink:NamedThing	retinitis pigmentosa 74	Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.	DOVES_relaxed.owl
MONDO:0014871	biolink:NamedThing	retinitis pigmentosa 75	Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene.	DOVES_relaxed.owl
MONDO:0014929	biolink:NamedThing	retinitis pigmentosa 76	Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.	DOVES_relaxed.owl
MONDO:0015013	biolink:NamedThing	retinitis pigmentosa 77	Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.	DOVES_relaxed.owl
MONDO:0030619	biolink:NamedThing	retinitis pigmentosa 92		DOVES_relaxed.owl
MONDO:0030797	biolink:NamedThing	retinitis pigmentosa 93		DOVES_relaxed.owl
MONDO:0032577	biolink:NamedThing	retinitis pigmentosa 83		DOVES_relaxed.owl
MONDO:0032604	biolink:NamedThing	retinitis pigmentosa 84		DOVES_relaxed.owl
MONDO:0032689	biolink:NamedThing	retinitis pigmentosa 85		DOVES_relaxed.owl
MONDO:0032834	biolink:NamedThing	retinitis pigmentosa 86		DOVES_relaxed.owl
MONDO:0032873	biolink:NamedThing	retinitis pigmentosa 87 with choroidal involvement		DOVES_relaxed.owl
MONDO:0032940	biolink:NamedThing	retinitis pigmentosa 88		DOVES_relaxed.owl
MONDO:0033563	biolink:NamedThing	retinitis pigmentosa 90		DOVES_relaxed.owl
MONDO:0036482	biolink:NamedThing	retinitis pigmentosa 81		DOVES_relaxed.owl
MONDO:0044314	biolink:NamedThing	retinitis pigmentosa 78		DOVES_relaxed.owl
MONDO:0044320	biolink:NamedThing	retinitis pigmentosa 79		DOVES_relaxed.owl
MONDO:0054708	biolink:NamedThing	retinitis pigmentosa 80		DOVES_relaxed.owl
MONDO:0800328	biolink:NamedThing	retinitis pigmentosa 94, variable age at onset		DOVES_relaxed.owl
MONDO:0800348	biolink:NamedThing	retinitis pigmentosa 53		DOVES_relaxed.owl
MONDO:0800352	biolink:NamedThing	retinitis pigmentosa 65		DOVES_relaxed.owl
MONDO:0800359	biolink:NamedThing	retinitis pigmentosa 64		DOVES_relaxed.owl
MONDO:0020605	biolink:NamedThing	X-linked recessive disease	X-linked recessive form of disease.	DOVES_relaxed.owl
MONDO:0010358	biolink:NamedThing	hypophosphatemic rickets, X-linked recessive	Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene.	DOVES_relaxed.owl
MONDO:0010385	biolink:NamedThing	X-linked lymphoproliferative disease due to XIAP deficiency	A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2.	DOVES_relaxed.owl
MONDO:0010563	biolink:NamedThing	blue cone monochromacy	Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia.	DOVES_relaxed.owl
MONDO:0010622	biolink:NamedThing	recessive X-linked ichthyosis	A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.	DOVES_relaxed.owl
MONDO:0017630	biolink:NamedThing	X-linked complicated spastic paraplegia type 1	An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain.	DOVES_relaxed.owl
MONDO:0021019	biolink:NamedThing	X-linked recessive ocular albinism	X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.	DOVES_relaxed.owl
MONDO:0024551	biolink:NamedThing	X-linked lymphoproliferative disease due to SH2D1A deficiency	A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.	DOVES_relaxed.owl
MONDO:0026763	biolink:NamedThing	holoprosencephaly 13, X-linked		DOVES_relaxed.owl
MONDO:0100213	biolink:NamedThing	IFAP syndrome with or without BRESHECK syndrome	An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome.	DOVES_relaxed.owl
MONDO:0000912	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 5	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12.	DOVES_relaxed.owl
MONDO:0009076	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 1A	An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.	DOVES_relaxed.owl
MONDO:0010807	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 2	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.	DOVES_relaxed.owl
MONDO:0010860	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 3	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene.	DOVES_relaxed.owl
MONDO:0010933	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 4	An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22.	DOVES_relaxed.owl
MONDO:0010965	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 6	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene.	DOVES_relaxed.owl
MONDO:0010967	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 7	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.	DOVES_relaxed.owl
MONDO:0010986	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 9	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene.	DOVES_relaxed.owl
MONDO:0010987	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 8	An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22.	DOVES_relaxed.owl
MONDO:0011067	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 12	An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.	DOVES_relaxed.owl
MONDO:0011160	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 15	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene.	DOVES_relaxed.owl
MONDO:0011192	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 18A	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene.	DOVES_relaxed.owl
MONDO:0011279	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 17	An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31.	DOVES_relaxed.owl
MONDO:0011286	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 13	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36.	DOVES_relaxed.owl
MONDO:0011351	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 21	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.	DOVES_relaxed.owl
MONDO:0011360	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 14	An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31.	DOVES_relaxed.owl
MONDO:0011364	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 16	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene.	DOVES_relaxed.owl
MONDO:0011392	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 20	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter.	DOVES_relaxed.owl
MONDO:0011553	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 26	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31.	DOVES_relaxed.owl
MONDO:0011602	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 27	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31.	DOVES_relaxed.owl
MONDO:0011762	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 22	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene.	DOVES_relaxed.owl
MONDO:0011767	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 31	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene.	DOVES_relaxed.owl
MONDO:0011774	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 30	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene.	DOVES_relaxed.owl
MONDO:0011799	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 33	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1.	DOVES_relaxed.owl
MONDO:0011912	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 37	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.	DOVES_relaxed.owl
MONDO:0011991	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 38	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27.	DOVES_relaxed.owl
MONDO:0012002	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 40	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.	DOVES_relaxed.owl
MONDO:0012003	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 39	An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness.	DOVES_relaxed.owl
MONDO:0012060	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 35	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene.	DOVES_relaxed.owl
MONDO:0012091	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 32	An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3.	DOVES_relaxed.owl
MONDO:0012170	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 36	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene.	DOVES_relaxed.owl
MONDO:0012273	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 48	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene.	DOVES_relaxed.owl
MONDO:0012293	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 23	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene.	DOVES_relaxed.owl
MONDO:0012326	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 42	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene.	DOVES_relaxed.owl
MONDO:0012327	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 46	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.	DOVES_relaxed.owl
MONDO:0012333	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 53	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.	DOVES_relaxed.owl
MONDO:0012355	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 28	An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.	DOVES_relaxed.owl
MONDO:0012370	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 51	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12.	DOVES_relaxed.owl
MONDO:0012375	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 47	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3.	DOVES_relaxed.owl
MONDO:0012376	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 55	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.	DOVES_relaxed.owl
MONDO:0012418	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 62	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23.	DOVES_relaxed.owl
MONDO:0012420	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 49	An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.	DOVES_relaxed.owl
MONDO:0012421	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 44	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene.	DOVES_relaxed.owl
MONDO:0012442	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 66	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene.	DOVES_relaxed.owl
MONDO:0012445	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 59	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene.	DOVES_relaxed.owl
MONDO:0012452	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 65	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3.	DOVES_relaxed.owl
MONDO:0012460	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 67	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene.	DOVES_relaxed.owl
MONDO:0012485	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 68	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene.	DOVES_relaxed.owl
MONDO:0012602	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 24	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene.	DOVES_relaxed.owl
MONDO:0012670	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 63	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene.	DOVES_relaxed.owl
MONDO:0012903	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 45	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44.	DOVES_relaxed.owl
MONDO:0012977	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 1B	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.	DOVES_relaxed.owl
MONDO:0013010	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 71	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3.	DOVES_relaxed.owl
MONDO:0013119	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 77	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene.	DOVES_relaxed.owl
MONDO:0013210	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 25	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene.	DOVES_relaxed.owl
MONDO:0013215	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 79	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene.	DOVES_relaxed.owl
MONDO:0013249	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 84A	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene.	DOVES_relaxed.owl
MONDO:0013250	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 85	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2.	DOVES_relaxed.owl
MONDO:0013269	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 91	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene.	DOVES_relaxed.owl
MONDO:0013365	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 83	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.	DOVES_relaxed.owl
MONDO:0013386	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 74	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene.	DOVES_relaxed.owl
MONDO:0013471	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 61	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene.	DOVES_relaxed.owl
MONDO:0013489	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 89	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene.	DOVES_relaxed.owl
MONDO:0013537	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 29	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene.	DOVES_relaxed.owl
MONDO:0013738	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 96	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13.	DOVES_relaxed.owl
MONDO:0013826	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 86	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.	DOVES_relaxed.owl
MONDO:0013929	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 98	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene.	DOVES_relaxed.owl
MONDO:0013963	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 93	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene.	DOVES_relaxed.owl
MONDO:0013978	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 70	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene.	DOVES_relaxed.owl
MONDO:0013984	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 84B	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene.	DOVES_relaxed.owl
MONDO:0013985	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 18B	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene.	DOVES_relaxed.owl
MONDO:0014182	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 88	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.	DOVES_relaxed.owl
MONDO:0014237	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 76	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene.	DOVES_relaxed.owl
MONDO:0014363	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 101	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene.	DOVES_relaxed.owl
MONDO:0014428	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 102	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene.	DOVES_relaxed.owl
MONDO:0014469	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 103	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene.	DOVES_relaxed.owl
MONDO:0014675	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 104	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene.	DOVES_relaxed.owl
MONDO:0014739	biolink:NamedThing	autosomal recessive nonsyndromic hearing loss 97	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene.	DOVES_relaxed.owl
MONDO:0029142	biolink:NamedThing	hearing loss, autosomal recessive 111		DOVES_relaxed.owl
MONDO:0030449	biolink:NamedThing	deafness, autosomal recessive 118, with cochlear aplasia		DOVES_relaxed.owl
MONDO:0030480	biolink:NamedThing	hearing loss, autosomal recessive 119		DOVES_relaxed.owl
MONDO:0030905	biolink:NamedThing	hearing loss, autosomal recessive 117		DOVES_relaxed.owl
MONDO:0032639	biolink:NamedThing	hearing loss, autosomal recessive 112		DOVES_relaxed.owl
MONDO:0032732	biolink:NamedThing	hearing loss, autosomal recessive 113		DOVES_relaxed.owl
MONDO:0032740	biolink:NamedThing	hearing loss, autosomal recessive 100		DOVES_relaxed.owl
MONDO:0032749	biolink:NamedThing	hearing loss, autosomal recessive 94		DOVES_relaxed.owl
MONDO:0032761	biolink:NamedThing	hearing loss, autosomal recessive 114		DOVES_relaxed.owl
MONDO:0032762	biolink:NamedThing	hearing loss, autosomal recessive 115		DOVES_relaxed.owl
MONDO:0032776	biolink:NamedThing	hearing loss, autosomal recessive 99		DOVES_relaxed.owl
MONDO:0033198	biolink:NamedThing	hearing loss, autosomal recessive 106		DOVES_relaxed.owl
MONDO:0033199	biolink:NamedThing	hearing loss, autosomal recessive 107		DOVES_relaxed.owl
MONDO:0033200	biolink:NamedThing	hearing loss, autosomal recessive 108		DOVES_relaxed.owl
MONDO:0033201	biolink:NamedThing	hearing loss, autosomal recessive 57		DOVES_relaxed.owl
MONDO:0033202	biolink:NamedThing	hearing loss, autosomal recessive 109		DOVES_relaxed.owl
MONDO:0033670	biolink:NamedThing	hearing loss, autosomal recessive 116		DOVES_relaxed.owl
MONDO:0054860	biolink:NamedThing	hearing loss, autosomal recessive 110		DOVES_relaxed.owl
MONDO:0000913	biolink:NamedThing	hereditary spherocytosis type 2	Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene.	DOVES_relaxed.owl
MONDO:0019350	biolink:NamedThing	hereditary spherocytosis	Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.	DOVES_relaxed.owl
MONDO:0008447	biolink:NamedThing	hereditary spherocytosis type 1	Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.	DOVES_relaxed.owl
MONDO:0010053	biolink:NamedThing	hereditary spherocytosis type 3	Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene.	DOVES_relaxed.owl
MONDO:0012981	biolink:NamedThing	hereditary spherocytosis type 4	Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene.	DOVES_relaxed.owl
MONDO:0012985	biolink:NamedThing	hereditary spherocytosis type 5	Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene.	DOVES_relaxed.owl
MONDO:0000914	biolink:NamedThing	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.	DOVES_relaxed.owl
MONDO:0014768	biolink:NamedThing	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene.	DOVES_relaxed.owl
MONDO:0004414	biolink:NamedThing	tamoxifen-related endometrial lesion	A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma.	DOVES_relaxed.owl
MONDO:0005133	biolink:NamedThing	endometriosis	The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.	DOVES_relaxed.owl
MONDO:0006096	biolink:NamedThing	atypical endometrial hyperplasia	An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear.	DOVES_relaxed.owl
MONDO:0010888	biolink:NamedThing	adenomyosis	The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia.	DOVES_relaxed.owl
MONDO:0000919	biolink:NamedThing	ampulla of vater cancer	A primary or metastatic malignant neoplasm involving the ampulla of Vater.	DOVES_relaxed.owl
MONDO:0021335	biolink:NamedThing	carcinoma of duodenum	A carcinoma that involves the duodenum.	DOVES_relaxed.owl
MONDO:0021321	biolink:NamedThing	malignant tumor of extrahepatic bile duct	A cancer that involves the extrahepatic bile duct.	DOVES_relaxed.owl
MONDO:0024658	biolink:NamedThing	extrahepatic bile duct sarcoma	A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.	DOVES_relaxed.owl
MONDO:0000955	biolink:NamedThing	ileum cancer	A malignant neoplasm involving the ileum	DOVES_relaxed.owl
MONDO:0001852	biolink:NamedThing	small intestine lymphoma	A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine.	DOVES_relaxed.owl
MONDO:0003361	biolink:NamedThing	small intestinal sarcoma	A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma.	DOVES_relaxed.owl
MONDO:0005522	biolink:NamedThing	small intestine carcinoma	A carcinoma that arises from epithelial cells of the small intestine	DOVES_relaxed.owl
MONDO:0006709	biolink:NamedThing	common bile duct neoplasm	Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi.	DOVES_relaxed.owl
MONDO:0000923	biolink:NamedThing	interstitial emphysema	Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome.	DOVES_relaxed.owl
MONDO:0004849	biolink:NamedThing	pulmonary emphysema	A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.	DOVES_relaxed.owl
MONDO:0000924	biolink:NamedThing	compensatory emphysema		DOVES_relaxed.owl
MONDO:0000925	biolink:NamedThing	hyperlucent lung	A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax.	DOVES_relaxed.owl
MONDO:0007536	biolink:NamedThing	congenital lobar emphysema	Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.	DOVES_relaxed.owl
MONDO:0000928	biolink:NamedThing	eyelid melanoma	A melanoma that arises from the upper or lower eyelid.	DOVES_relaxed.owl
MONDO:0005012	biolink:NamedThing	cutaneous melanoma	A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.	DOVES_relaxed.owl
MONDO:0000929	biolink:NamedThing	balloon cell malignant melanoma	A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion.	DOVES_relaxed.owl
MONDO:0000930	biolink:NamedThing	nodular malignant melanoma	An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance.	DOVES_relaxed.owl
MONDO:0003865	biolink:NamedThing	acral lentiginous melanoma	A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells.	DOVES_relaxed.owl
MONDO:0005208	biolink:NamedThing	amelanotic skin melanoma	A amelanotic melanoma that involves the zone of skin.	DOVES_relaxed.owl
MONDO:0020638	biolink:NamedThing	superficial spreading melanoma	A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi.	DOVES_relaxed.owl
MONDO:0023619	biolink:NamedThing	lentigo maligna melanoma	Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible.	DOVES_relaxed.owl
MONDO:0044785	biolink:NamedThing	desmoplastic melanoma	A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion.	DOVES_relaxed.owl
MONDO:0006325	biolink:NamedThing	ocular melanoma	A melanoma that arises from the structures of the eye or ocular adnexa.	DOVES_relaxed.owl
MONDO:0002096	biolink:NamedThing	malignant conjunctival melanoma	A malignant melanoma within the conjunctiva of the eye.	DOVES_relaxed.owl
MONDO:0004550	biolink:NamedThing	malignant cornea melanoma	A melanoma within the cornea of the eye.	DOVES_relaxed.owl
MONDO:0004561	biolink:NamedThing	retinal melanoma	A melanoma affecting the retinal portion of the eye. --2003	DOVES_relaxed.owl
MONDO:0006326	biolink:NamedThing	ocular melanoma with extraocular extension	A melanoma arising from and extending beyond the structures of the eye.	DOVES_relaxed.owl
MONDO:0006486	biolink:NamedThing	uveal melanoma	A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B.	DOVES_relaxed.owl
MONDO:0021313	biolink:NamedThing	eyelid cancer	A cancer that involves the eyelid.	DOVES_relaxed.owl
MONDO:0003876	biolink:NamedThing	eyelid carcinoma	A carcinoma that arises from epithelial cells of the eyelid.	DOVES_relaxed.owl
MONDO:0020175	biolink:NamedThing	malignant tumor of palpebral epidermis	A cancer that involves the skin of eyelid.	DOVES_relaxed.owl
MONDO:0000933	biolink:NamedThing	subglottis neoplasm	A benign or malignant neoplasm that affects the subglottic area of the larynx.	DOVES_relaxed.owl
MONDO:0002352	biolink:NamedThing	larynx cancer	A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas.	DOVES_relaxed.owl
MONDO:0002353	biolink:NamedThing	glottis neoplasm	A benign or malignant neoplasm that affects the glottic area of the larynx.	DOVES_relaxed.owl
MONDO:0002354	biolink:NamedThing	benign laryngeal neoplasm	A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma.	DOVES_relaxed.owl
MONDO:0004427	biolink:NamedThing	supraglottis neoplasm	A benign or malignant neoplasm that affects the supraglottic area of the larynx.	DOVES_relaxed.owl
MONDO:0000934	biolink:NamedThing	laryngeal leiomyoma	A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0001572	biolink:NamedThing	leiomyoma	A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0000938	biolink:NamedThing	gastric leiomyoma	A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT).	DOVES_relaxed.owl
MONDO:0001399	biolink:NamedThing	ureter leiomyoma	A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0001536	biolink:NamedThing	vaginal leiomyoma	A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0001634	biolink:NamedThing	bladder leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0002057	biolink:NamedThing	breast leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0002092	biolink:NamedThing	small intestine leiomyoma	A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0002222	biolink:NamedThing	urethra leiomyoma	A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0002318	biolink:NamedThing	trachea leiomyoma	A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0002452	biolink:NamedThing	prostate leiomyoma	A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0003284	biolink:NamedThing	mediastinum leiomyoma	A benign smooth muscle neoplasm arising from the mediastium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0003285	biolink:NamedThing	fallopian tube leiomyoma	A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0003287	biolink:NamedThing	central nervous system leiomyoma	A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity.	DOVES_relaxed.owl
MONDO:0003288	biolink:NamedThing	bizarre leiomyoma	A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm.	DOVES_relaxed.owl
MONDO:0003289	biolink:NamedThing	deep leiomyoma	A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0003293	biolink:NamedThing	lung leiomyoma	A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0003294	biolink:NamedThing	pericardium leiomyoma	A benign smooth muscle neoplasm arising from the pericardium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0003295	biolink:NamedThing	leiomyomatosis	A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body.	DOVES_relaxed.owl
MONDO:0003296	biolink:NamedThing	cellular leiomyoma	A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.	DOVES_relaxed.owl
MONDO:0003297	biolink:NamedThing	gallbladder leiomyoma	A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0003299	biolink:NamedThing	colorectal leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0004723	biolink:NamedThing	liver leiomyoma	A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0004832	biolink:NamedThing	esophagus leiomyoma	A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom.	DOVES_relaxed.owl
MONDO:0006053	biolink:NamedThing	renal leiomyoma	A leiomyoma that involves the kidney.	DOVES_relaxed.owl
MONDO:0006312	biolink:NamedThing	myofibroma	A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.	DOVES_relaxed.owl
MONDO:0007886	biolink:NamedThing	uterine corpus leiomyoma	A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0021273	biolink:NamedThing	leiomyoma of ciliary body	A leiomyoma that involves the ciliary body.	DOVES_relaxed.owl
MONDO:0022560	biolink:NamedThing	benign metastasizing leiomyoma	A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord.	DOVES_relaxed.owl
MONDO:0000935	biolink:NamedThing	larynx squamous papilloma	A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare.	DOVES_relaxed.owl
MONDO:0021446	biolink:NamedThing	benign neoplasm of epiglottis	A benign neoplasm that involves the epiglottis.	DOVES_relaxed.owl
MONDO:0021516	biolink:NamedThing	benign neoplasm of glottis	A benign neoplasm that involves the glottis.	DOVES_relaxed.owl
MONDO:0021530	biolink:NamedThing	benign neoplasm of subglottis	A benign neoplasm that involves the subglottis.	DOVES_relaxed.owl
MONDO:0023597	biolink:NamedThing	laryngeal papillomatosis	Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11.	DOVES_relaxed.owl
MONDO:0001825	biolink:NamedThing	squamous papilloma	A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva.	DOVES_relaxed.owl
MONDO:0001635	biolink:NamedThing	bladder squamous papilloma	A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium.	DOVES_relaxed.owl
MONDO:0001779	biolink:NamedThing	vaginal squamous papilloma	A benign papillary neoplasm that arises from the vagina and is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. There is no evidence of atypia or relation to human papillomavirus.	DOVES_relaxed.owl
MONDO:0003753	biolink:NamedThing	nasal vestibule squamous papilloma	A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule.	DOVES_relaxed.owl
MONDO:0004204	biolink:NamedThing	squamous cell skin papilloma	A squamous papilloma that involves the zone of skin.	DOVES_relaxed.owl
MONDO:0004788	biolink:NamedThing	cervix squamous papilloma	A papilloma that arises from the squamous epithelium of the cervix.	DOVES_relaxed.owl
MONDO:0004827	biolink:NamedThing	esophagus squamous cell papilloma	A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare.	DOVES_relaxed.owl
MONDO:0000936	biolink:NamedThing	syphilitic meningitis	An infectious meningitis caused by infection with Treponema.	DOVES_relaxed.owl
MONDO:0007000	biolink:NamedThing	Treponema infectious disease	An disease caused by infection with Treponema.	DOVES_relaxed.owl
MONDO:0021449	biolink:NamedThing	benign neoplasm of stomach	A benign neoplasm that involves the stomach.	DOVES_relaxed.owl
MONDO:0002414	biolink:NamedThing	gastric hemangioma	A hemangioma arising from the stomach.	DOVES_relaxed.owl
MONDO:0021437	biolink:NamedThing	lipoma of stomach	A lipoma that involves the stomach.	DOVES_relaxed.owl
MONDO:0004796	biolink:NamedThing	infectious meningitis	Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures.	DOVES_relaxed.owl
MONDO:0005874	biolink:NamedThing	neuroschistosomiasis	Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)	DOVES_relaxed.owl
MONDO:0006984	biolink:NamedThing	subdural empyema	An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid.	DOVES_relaxed.owl
MONDO:0024318	biolink:NamedThing	viral infection of central nervous system		DOVES_relaxed.owl
MONDO:0000941	biolink:NamedThing	eyelid degenerative disorder	A neurodegenerative disease that involves the eyelid.	DOVES_relaxed.owl
MONDO:0001008	biolink:NamedThing	blepharophimosis	The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0001334	biolink:NamedThing	hypertrichosis of eyelid	A hypertrichosis (disease) that involves the eyelid.	DOVES_relaxed.owl
MONDO:0001335	biolink:NamedThing	hypotrichosis of eyelid	A hypotrichosis that involves the eyelid.	DOVES_relaxed.owl
MONDO:0001519	biolink:NamedThing	entropion	The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0001604	biolink:NamedThing	lagophthalmos		DOVES_relaxed.owl
MONDO:0001767	biolink:NamedThing	stenosis of lacrimal punctum		DOVES_relaxed.owl
MONDO:0001768	biolink:NamedThing	stenosis of lacrimal passage		DOVES_relaxed.owl
MONDO:0002043	biolink:NamedThing	ectropion	The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0002235	biolink:NamedThing	eyelid neoplasm	A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma.	DOVES_relaxed.owl
MONDO:0002660	biolink:NamedThing	blepharochalasis	An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins.	DOVES_relaxed.owl
MONDO:0006561	biolink:NamedThing	eyelid hypopigmentation	Under-production of pigment in the eyelid.	DOVES_relaxed.owl
MONDO:0020153	biolink:NamedThing	cryptophthalmia	A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.	DOVES_relaxed.owl
MONDO:0020154	biolink:NamedThing	microblepharon-ablephara syndrome		DOVES_relaxed.owl
MONDO:0020155	biolink:NamedThing	eyelid border anomaly		DOVES_relaxed.owl
MONDO:0020158	biolink:NamedThing	eyelids malposition disorder		DOVES_relaxed.owl
MONDO:0020163	biolink:NamedThing	canthal anomaly		DOVES_relaxed.owl
MONDO:0020465	biolink:NamedThing	congenital eyelid retraction	Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.	DOVES_relaxed.owl
MONDO:0021607	biolink:NamedThing	eyelid seborrheic keratosis	A seborrheic keratosis that involves the eyelid.	DOVES_relaxed.owl
MONDO:0024480	biolink:NamedThing	dermatosis of eyelid		DOVES_relaxed.owl
MONDO:0001363	biolink:NamedThing	blind hypertensive eye		DOVES_relaxed.owl
MONDO:0001377	biolink:NamedThing	vitreous syneresis		DOVES_relaxed.owl
MONDO:0004885	biolink:NamedThing	choroidal sclerosis	A neurodegenerative disease that involves the optic choroid.	DOVES_relaxed.owl
MONDO:0008972	biolink:NamedThing	rhizomelic chondrodysplasia punctata type 1	A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.	DOVES_relaxed.owl
MONDO:0009319	biolink:NamedThing	pantothenate kinase-associated neurodegeneration	Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.	DOVES_relaxed.owl
MONDO:0010063	biolink:NamedThing	corneal-cerebellar syndrome	A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.	DOVES_relaxed.owl
MONDO:0011426	biolink:NamedThing	aceruloplasminemia	An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.	DOVES_relaxed.owl
MONDO:0014611	biolink:NamedThing	multiple mitochondrial dysfunctions syndrome 4	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene.	DOVES_relaxed.owl
MONDO:0017196	biolink:NamedThing	osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome	Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.	DOVES_relaxed.owl
MONDO:0100265	biolink:NamedThing	peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain	Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.	DOVES_relaxed.owl
MONDO:0044345	biolink:NamedThing	Schistosoma mansoni infectious disease	An infection that is caused by Schistosoma mansoni.	DOVES_relaxed.owl
MONDO:0022202	biolink:NamedThing	disseminated		DOVES_relaxed.owl
MONDO:0021136	biolink:NamedThing	rare	A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 persons at any given time. Here we take the European definition to be consistent with Orphanet.	DOVES_relaxed.owl
MONDO:0045036	biolink:NamedThing	primary infectious	A characteristic of an infectious disease in which the disease affects an immunologically normal host.	DOVES_relaxed.owl
MONDO:0005623	biolink:NamedThing	autoimmune thyroid disease	Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis.	DOVES_relaxed.owl
MONDO:0021127	biolink:NamedThing	has a syndromic presentation	An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features.	DOVES_relaxed.owl
MONDO:0700062	biolink:NamedThing	mosaic	A disease characteristic in which the cause of the disease is present in some of the cells of the organism.	DOVES_relaxed.owl
MONDO:0012268	biolink:NamedThing	AIDS	A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.	DOVES_relaxed.owl
MONDO:0021140	biolink:NamedThing	congenital	A characteristic of a disease in which the disease is present at birth, regardless of cause.	DOVES_relaxed.owl
MONDO:0005015	biolink:NamedThing	diabetes mellitus	A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.	DOVES_relaxed.owl
MONDO:0021141	biolink:NamedThing	acquired		DOVES_relaxed.owl
MONDO:0001106	biolink:NamedThing	kidney failure	An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood.	DOVES_relaxed.owl
MONDO:0021152	biolink:NamedThing	inherited	A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents.	DOVES_relaxed.owl
MONDO:0024495	biolink:NamedThing	tumor grade 1 or 2, general grading system		DOVES_relaxed.owl
MONDO:0045042	biolink:NamedThing	restricted to specific location		DOVES_relaxed.owl
MONDO:0021128	biolink:NamedThing	has an isolated presentation	An characteristic of a disease in which the disease is manifested as an isolated feature.	DOVES_relaxed.owl
MONDO:0045035	biolink:NamedThing	opportunistic infectious	A characteristic of an infectious disease in which the disease affects an immunologically compromised host.	DOVES_relaxed.owl
MONDO:0700005	biolink:NamedThing	idiopathic	A disease characteristic in which the disease has an uncertain or unknown cause.	DOVES_relaxed.owl
MONDO:0001030	biolink:NamedThing	keratoconus, stable condition		DOVES_relaxed.owl
MONDO:0007851	biolink:NamedThing	keratoconus 1	Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene.	DOVES_relaxed.owl
MONDO:0012069	biolink:NamedThing	keratoconus 3		DOVES_relaxed.owl
MONDO:0012158	biolink:NamedThing	keratoconus 2		DOVES_relaxed.owl
MONDO:0012236	biolink:NamedThing	keratoconus 4		DOVES_relaxed.owl
MONDO:0013830	biolink:NamedThing	keratoconus 5		DOVES_relaxed.owl
MONDO:0013831	biolink:NamedThing	keratoconus 6		DOVES_relaxed.owl
MONDO:0013832	biolink:NamedThing	keratoconus 8		DOVES_relaxed.owl
MONDO:0013833	biolink:NamedThing	keratoconus 7		DOVES_relaxed.owl
MONDO:0054771	biolink:NamedThing	keratoconus 9		DOVES_relaxed.owl
MONDO:0000944	biolink:NamedThing	cerebral artery occlusion		DOVES_relaxed.owl
MONDO:0001277	biolink:NamedThing	cerebral arteritis	An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery.	DOVES_relaxed.owl
MONDO:0003718	biolink:NamedThing	occlusion precerebral artery		DOVES_relaxed.owl
MONDO:0004648	biolink:NamedThing	vascular dementia	A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions.	DOVES_relaxed.owl
MONDO:0005098	biolink:NamedThing	stroke disorder	A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.	DOVES_relaxed.owl
MONDO:0005189	biolink:NamedThing	internal carotid artery stenosis	Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta.	DOVES_relaxed.owl
MONDO:0005269	biolink:NamedThing	carotid artery disorder	A disease involving the carotid artery segment.	DOVES_relaxed.owl
MONDO:0005394	biolink:NamedThing	brain infarction	Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.	DOVES_relaxed.owl
MONDO:0005620	biolink:NamedThing	cerebral amyloid angiopathy	Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.	DOVES_relaxed.owl
MONDO:0005621	biolink:NamedThing	vascular brain injury	Damage to the blood vessels of the brain	DOVES_relaxed.owl
MONDO:0006505	biolink:NamedThing	basal ganglia cerebrovascular disorder	A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis).	DOVES_relaxed.owl
MONDO:0006808	biolink:NamedThing	intracranial arterial disease	Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.	DOVES_relaxed.owl
MONDO:0006809	biolink:NamedThing	intracranial embolism	Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases.	DOVES_relaxed.owl
MONDO:0006812	biolink:NamedThing	intracranial vasospasm	Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain).	DOVES_relaxed.owl
MONDO:0009468	biolink:NamedThing	pseudotumor cerebri	Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.	DOVES_relaxed.owl
MONDO:0013792	biolink:NamedThing	intracerebral hemorrhage	Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma.	DOVES_relaxed.owl
MONDO:0017993	biolink:NamedThing	cerebral sinovenous thrombosis	A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents.	DOVES_relaxed.owl
MONDO:0018786	biolink:NamedThing	pontine autosomal dominant microangiopathy with leukoencephalopathy	A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres.	DOVES_relaxed.owl
MONDO:0018788	biolink:NamedThing	COL4A1 or COL4A2-related cerebral small vessel disease		DOVES_relaxed.owl
MONDO:0018791	biolink:NamedThing	Moyomoya angiopathy	A rare cerebral vasculopathy characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of abnormal collateral vessels.	DOVES_relaxed.owl
MONDO:0018831	biolink:NamedThing	HTRA1-related cerebral small vessel disease		DOVES_relaxed.owl
MONDO:0035551	biolink:NamedThing	cathepsin a-related arteriopathy-strokes-leukoencephalopathy	A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.	DOVES_relaxed.owl
MONDO:0020673	biolink:NamedThing	arterial occlusion	Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart.	DOVES_relaxed.owl
MONDO:0001258	biolink:NamedThing	vertebral artery occlusion		DOVES_relaxed.owl
MONDO:0001633	biolink:NamedThing	central retinal artery occlusion	Blockage of the central retinal artery.	DOVES_relaxed.owl
MONDO:0001733	biolink:NamedThing	occlusion of tributary of retinal vein		DOVES_relaxed.owl
MONDO:0002303	biolink:NamedThing	central retinal vein occlusion	Blockage of the central retinal vein.	DOVES_relaxed.owl
MONDO:0002996	biolink:NamedThing	cavernous sinus meningioma	A meningioma that affects the cavernous sinus.	DOVES_relaxed.owl
MONDO:0003032	biolink:NamedThing	superior vena cava angiosarcoma	A malignant vascular neoplasm arising from the superior vena cava.	DOVES_relaxed.owl
MONDO:0004206	biolink:NamedThing	pulmonary vein leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0004625	biolink:NamedThing	phlebitis	Inflammation of a vein.	DOVES_relaxed.owl
MONDO:0008638	biolink:NamedThing	varicose disease	A vascular disease characterized by the presence of enlarged and tortuous veins.	DOVES_relaxed.owl
MONDO:0015196	biolink:NamedThing	vein of Galen aneurysm	Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization.	DOVES_relaxed.owl
MONDO:0001298	biolink:NamedThing	congenital mitral valve insufficiency	Dysfunction of the mitral valve characterized by incomplete valve closure.	DOVES_relaxed.owl
MONDO:0001613	biolink:NamedThing	vertebrobasilar insufficiency	Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated.	DOVES_relaxed.owl
MONDO:0002870	biolink:NamedThing	tricuspid valve insufficiency	The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve.	DOVES_relaxed.owl
MONDO:0004622	biolink:NamedThing	chronic intestinal vascular insufficiency		DOVES_relaxed.owl
MONDO:0005648	biolink:NamedThing	aortic valve insufficiency	Dysfunction of the aortic valve characterized by incomplete valve closure.	DOVES_relaxed.owl
MONDO:0006978	biolink:NamedThing	splenic infarction	Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)	DOVES_relaxed.owl
MONDO:0021723	biolink:NamedThing	vaginismus	Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection.	DOVES_relaxed.owl
MONDO:0001132	biolink:NamedThing	sexual sadism disorder	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual.	DOVES_relaxed.owl
MONDO:0001139	biolink:NamedThing	sexual masochism disorder	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer.	DOVES_relaxed.owl
MONDO:0001780	biolink:NamedThing	premature ejaculation	A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it.	DOVES_relaxed.owl
MONDO:0001423	biolink:NamedThing	drug-induced mental disorder		DOVES_relaxed.owl
MONDO:0003265	biolink:NamedThing	adjustment disorder	A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present.	DOVES_relaxed.owl
MONDO:0005371	biolink:NamedThing	mood disorder	A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature.	DOVES_relaxed.owl
MONDO:0005485	biolink:NamedThing	psychotic disorder	An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities.	DOVES_relaxed.owl
MONDO:0005618	biolink:NamedThing	anxiety disorder	A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety.	DOVES_relaxed.owl
MONDO:0800106	biolink:NamedThing	disruptive behavior disorder	A mental disorder that includes conduct disorder (CD), oppositional defiant disorder (ODD), and attention Deficit Hyperactivity Disorder (ADHD). Features may include frequent aggression, deceitfulness, and defiance, and often persist through the lifespan.	DOVES_relaxed.owl
MONDO:0000948	biolink:NamedThing	xerophthalmia	Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma.	DOVES_relaxed.owl
MONDO:0000949	biolink:NamedThing	conjunctival degeneration		DOVES_relaxed.owl
MONDO:0001174	biolink:NamedThing	conjunctival vascular disorder	A disorder of the vasculature of the cornea.	DOVES_relaxed.owl
MONDO:0001331	biolink:NamedThing	conjunctival deposit		DOVES_relaxed.owl
MONDO:0001534	biolink:NamedThing	ocular hyperemia		DOVES_relaxed.owl
MONDO:0002931	biolink:NamedThing	conjunctivochalasis		DOVES_relaxed.owl
MONDO:0020203	biolink:NamedThing	pigmented conjunctival lesion		DOVES_relaxed.owl
MONDO:0020204	biolink:NamedThing	conjunctival tumor	A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma.	DOVES_relaxed.owl
MONDO:0000951	biolink:NamedThing	thymus lymphoma	A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.	DOVES_relaxed.owl
MONDO:0006451	biolink:NamedThing	thymic carcinoma	Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential.	DOVES_relaxed.owl
MONDO:0004021	biolink:NamedThing	mediastinal malignant lymphoma	A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.	DOVES_relaxed.owl
MONDO:0004020	biolink:NamedThing	mediastinal gray zone lymphoma	A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classical Hodgkin lymphomas are related entities.	DOVES_relaxed.owl
MONDO:0000952	biolink:NamedThing	cancer of long bone of lower limb	A cancer that involves the hindlimb long bone.	DOVES_relaxed.owl
MONDO:0024312	biolink:NamedThing	cancer of short bone of upper limb		DOVES_relaxed.owl
MONDO:0100085	biolink:NamedThing	cancer of long bone of upper limb	A cancer that involves the upper limb long bone.	DOVES_relaxed.owl
MONDO:0000954	biolink:NamedThing	Meckel diverticulum cancer	A cancer involving a Meckel's diverticulum.	DOVES_relaxed.owl
MONDO:0021082	biolink:NamedThing	Meckel diverticulum neoplasm	A neoplasm involving a Meckel's diverticulum.	DOVES_relaxed.owl
MONDO:0006801	biolink:NamedThing	ileal neoplasm	A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma.	DOVES_relaxed.owl
MONDO:0004251	biolink:NamedThing	small intestine neoplasm	A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma.	DOVES_relaxed.owl
MONDO:0002564	biolink:NamedThing	jejunal neoplasm	A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma.	DOVES_relaxed.owl
MONDO:0006419	biolink:NamedThing	small intestinal intraepithelial neoplasia	A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion.	DOVES_relaxed.owl
MONDO:0018506	biolink:NamedThing	mesenchymal tumor of small intestine		DOVES_relaxed.owl
MONDO:0018510	biolink:NamedThing	small intestine neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	DOVES_relaxed.owl
MONDO:0021501	biolink:NamedThing	benign neoplasm of small intestine	A benign neoplasm that involves the small intestine.	DOVES_relaxed.owl
MONDO:0000957	biolink:NamedThing	lacrimal passage granuloma		DOVES_relaxed.owl
MONDO:0001766	biolink:NamedThing	eversion of lacrimal punctum		DOVES_relaxed.owl
MONDO:0001793	biolink:NamedThing	excessive tearing	Profuse lacrimation.	DOVES_relaxed.owl
MONDO:0001851	biolink:NamedThing	primary lacrimal atrophy		DOVES_relaxed.owl
MONDO:0002124	biolink:NamedThing	secondary lacrimal atrophy		DOVES_relaxed.owl
MONDO:0002460	biolink:NamedThing	lacrimal system cancer	A cancer that involves the lacrimal apparatus.	DOVES_relaxed.owl
MONDO:0002511	biolink:NamedThing	stenosis of lacrimal sac		DOVES_relaxed.owl
MONDO:0019191	biolink:NamedThing	IgG4-related dacryoadenitis and sialadenitis	IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis.	DOVES_relaxed.owl
MONDO:0020193	biolink:NamedThing	secretory apparatus of the lacrimal system anomaly		DOVES_relaxed.owl
MONDO:0020195	biolink:NamedThing	excretory apparatus of the lacrimal system anomaly		DOVES_relaxed.owl
MONDO:0020196	biolink:NamedThing	anomaly of the secretory and excretory apparatus of the lacrimal system		DOVES_relaxed.owl
MONDO:0024625	biolink:NamedThing	disorder of lacrimal gland	A disease that involves the lacrimal gland.	DOVES_relaxed.owl
MONDO:0044984	biolink:NamedThing	nasolacrimal duct disorder	A disease or disorder that involves the nasolacrimal duct.	DOVES_relaxed.owl
MONDO:0000958	biolink:NamedThing	neuroretinitis	Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina.	DOVES_relaxed.owl
MONDO:0002121	biolink:NamedThing	mononeuritis simplex	Neuritis of a single nerve.	DOVES_relaxed.owl
MONDO:0003607	biolink:NamedThing	neuritis of upper limb	A neuritis that involves the forelimb.	DOVES_relaxed.owl
MONDO:0004004	biolink:NamedThing	motor nerve neuritis	Inflammation of the peripheral motor nerves.	DOVES_relaxed.owl
MONDO:0006008	biolink:NamedThing	vestibular neuronitis	Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)	DOVES_relaxed.owl
MONDO:0006682	biolink:NamedThing	brachial plexus neuritis	An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm.	DOVES_relaxed.owl
MONDO:0021718	biolink:NamedThing	polyneuritis	Inflammation of several peripheral nerves.	DOVES_relaxed.owl
MONDO:0003579	biolink:NamedThing	retinal nerve fibre layer disorder	A disease that involves the nerve fiber layer of retina.	DOVES_relaxed.owl
MONDO:0000959	biolink:NamedThing	malignant hypertensive renal disease		DOVES_relaxed.owl
MONDO:0006846	biolink:NamedThing	malignant hypertension	Severe hypertension that is characterized by rapid onset of extremely high blood pressure.	DOVES_relaxed.owl
MONDO:0001133	biolink:NamedThing	malignant essential hypertension	Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure.	DOVES_relaxed.owl
MONDO:0001784	biolink:NamedThing	malignant renovascular hypertension		DOVES_relaxed.owl
MONDO:0001785	biolink:NamedThing	malignant secondary hypertension		DOVES_relaxed.owl
MONDO:0005081	biolink:NamedThing	preeclampsia	Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.	DOVES_relaxed.owl
MONDO:0007080	biolink:NamedThing	glucocorticoid-remediable aldosteronism	Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.	DOVES_relaxed.owl
MONDO:0008071	biolink:NamedThing	autosomal dominant progressive nephropathy with hypertension		DOVES_relaxed.owl
MONDO:0011309	biolink:NamedThing	familial gestational hyperthyroidism		DOVES_relaxed.owl
MONDO:0011517	biolink:NamedThing	pseudohyperaldosteronism type 2	Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.	DOVES_relaxed.owl
MONDO:0012203	biolink:NamedThing	familial hyperthyroidism due to mutations in TSH receptor	Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.	DOVES_relaxed.owl
MONDO:0017148	biolink:NamedThing	heritable pulmonary arterial hypertension	Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.	DOVES_relaxed.owl
MONDO:0019162	biolink:NamedThing	pseudohypoaldosteronism type 2	A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.	DOVES_relaxed.owl
MONDO:0001304	biolink:NamedThing	benign hypertensive renal disease		DOVES_relaxed.owl
MONDO:0000960	biolink:NamedThing	diabetic peripheral angiopathy	Diabetic angiopathy is a form of angiopathy associated with diabetic complications.	DOVES_relaxed.owl
MONDO:0001576	biolink:NamedThing	telangiectasis	Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes.	DOVES_relaxed.owl
MONDO:0004745	biolink:NamedThing	priapism	Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications.	DOVES_relaxed.owl
MONDO:0005295	biolink:NamedThing	intermittent vascular claudication	A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate.	DOVES_relaxed.owl
MONDO:0005386	biolink:NamedThing	peripheral arterial disease	A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest.	DOVES_relaxed.owl
MONDO:0006855	biolink:NamedThing	mesenteric vascular occlusion	Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)	DOVES_relaxed.owl
MONDO:0008889	biolink:NamedThing	thromboangiitis obliterans	Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco.	DOVES_relaxed.owl
MONDO:0016028	biolink:NamedThing	erythromelalgia	A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders.	DOVES_relaxed.owl
MONDO:0043361	biolink:NamedThing	May-Thurner syndrome	A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation.	DOVES_relaxed.owl
MONDO:0044037	biolink:NamedThing	livedo reticularis	A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming.	DOVES_relaxed.owl
MONDO:0000961	biolink:NamedThing	endobronchial lipoma	A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree.	DOVES_relaxed.owl
MONDO:0021457	biolink:NamedThing	benign neoplasm of pleura	A benign neoplasm that involves the pleura.	DOVES_relaxed.owl
MONDO:0021461	biolink:NamedThing	benign neoplasm of hypopharynx	A benign neoplasm that involves the hypopharynx.	DOVES_relaxed.owl
MONDO:0021475	biolink:NamedThing	benign neoplasm of nasal cavity	A benign neoplasm that involves the nasal cavity.	DOVES_relaxed.owl
MONDO:0021478	biolink:NamedThing	benign neoplasm of nasopharynx	A benign neoplasm that involves the nasopharynx.	DOVES_relaxed.owl
MONDO:0021479	biolink:NamedThing	benign neoplasm of oropharynx	A benign neoplasm that involves the oropharynx.	DOVES_relaxed.owl
MONDO:0021513	biolink:NamedThing	benign neoplasm of tonsil	A benign neoplasm that involves the tonsil.	DOVES_relaxed.owl
MONDO:0021517	biolink:NamedThing	benign neoplasm of trachea	A benign neoplasm that involves the trachea.	DOVES_relaxed.owl
MONDO:0002807	biolink:NamedThing	bronchial neoplasm	Tumors or cancer of the bronchi.	DOVES_relaxed.owl
MONDO:0001672	biolink:NamedThing	bronchus cancer	A malignant neoplasm involving the bronchus	DOVES_relaxed.owl
MONDO:0003427	biolink:NamedThing	bronchus adenoma	A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative.	DOVES_relaxed.owl
MONDO:0003944	biolink:NamedThing	endobronchial leiomyoma	A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0019963	biolink:NamedThing	bronchial endocrine tumor	A neuroendocrine neoplasm that involves the bronchus.	DOVES_relaxed.owl
MONDO:0005106	biolink:NamedThing	lipoma	A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.	DOVES_relaxed.owl
MONDO:0000962	biolink:NamedThing	spindle cell lipoma	A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity.	DOVES_relaxed.owl
MONDO:0000963	biolink:NamedThing	esophageal lipoma	A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections.	DOVES_relaxed.owl
MONDO:0000965	biolink:NamedThing	liver lipoma	A rare benign adipose tissue neoplasm of the liver.	DOVES_relaxed.owl
MONDO:0000966	biolink:NamedThing	pleomorphic lipoma	A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei.	DOVES_relaxed.owl
MONDO:0000967	biolink:NamedThing	conventional lipoma	A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones.	DOVES_relaxed.owl
MONDO:0000968	biolink:NamedThing	kidney lipoma	A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain.	DOVES_relaxed.owl
MONDO:0000969	biolink:NamedThing	pleural lipoma	A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall.	DOVES_relaxed.owl
MONDO:0000970	biolink:NamedThing	breast lipoma	A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent.	DOVES_relaxed.owl
MONDO:0000971	biolink:NamedThing	chest wall lipoma	A benign adipose tissue neoplasm of the chest wall.	DOVES_relaxed.owl
MONDO:0000972	biolink:NamedThing	gallbladder lipoma	A benign adipose tissue neoplasm involving the gallbladder wall.	DOVES_relaxed.owl
MONDO:0000973	biolink:NamedThing	external ear lipoma	A benign adipose tissue neoplasm of the external ear.	DOVES_relaxed.owl
MONDO:0000974	biolink:NamedThing	axillary lipoma	A benign adipose tissue neoplasm of the axilla.	DOVES_relaxed.owl
MONDO:0000977	biolink:NamedThing	chondroid lipoma	A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females.	DOVES_relaxed.owl
MONDO:0002163	biolink:NamedThing	thymus lipoma	A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion.	DOVES_relaxed.owl
MONDO:0003841	biolink:NamedThing	heart lipoma	A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue.	DOVES_relaxed.owl
MONDO:0003844	biolink:NamedThing	central nervous system lipoma	A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels.	DOVES_relaxed.owl
MONDO:0003885	biolink:NamedThing	colorectal lipoma	A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum.	DOVES_relaxed.owl
MONDO:0003984	biolink:NamedThing	internal auditory canal lipoma	A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures.	DOVES_relaxed.owl
MONDO:0004075	biolink:NamedThing	infiltrating lipoma	A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas.	DOVES_relaxed.owl
MONDO:0004076	biolink:NamedThing	tendon sheath lipoma	A benign tumor, composed of mature adipocytes, that arises within the tendon sheath.	DOVES_relaxed.owl
MONDO:0006085	biolink:NamedThing	angiolipoma	A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms.	DOVES_relaxed.owl
MONDO:0007909	biolink:NamedThing	familial multiple lipomatosis	Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.	DOVES_relaxed.owl
MONDO:0021168	biolink:NamedThing	hibernoma	A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults.	DOVES_relaxed.owl
MONDO:0021630	biolink:NamedThing	lipoma of face	A lipoma that involves the face.	DOVES_relaxed.owl
MONDO:0044885	biolink:NamedThing	tonsillar lipoma	A benign adipose tissue neoplasm of the tonsils.	DOVES_relaxed.owl
MONDO:0001783	biolink:NamedThing	endometrial stromal nodule	A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia.	DOVES_relaxed.owl
MONDO:0004482	biolink:NamedThing	fibroosseous pseudotumor of the digits	A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion.	DOVES_relaxed.owl
MONDO:0006086	biolink:NamedThing	angiomyxoma	A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma.	DOVES_relaxed.owl
MONDO:0016611	biolink:NamedThing	lipoblastoma	A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient.	DOVES_relaxed.owl
MONDO:0020581	biolink:NamedThing	benign PEComa	A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures.	DOVES_relaxed.owl
MONDO:0024715	biolink:NamedThing	benign synovial neoplasm	A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath.	DOVES_relaxed.owl
MONDO:0044784	biolink:NamedThing	myxoma	A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation.	DOVES_relaxed.owl
MONDO:0006427	biolink:NamedThing	spindle cell melanoma	A melanoma characterized by the presence of malignant spindle-shaped melanocytes.	DOVES_relaxed.owl
MONDO:0044796	biolink:NamedThing	spindle cell nevus	A nevus characterized by the presence of spindle-shaped melanocytes.	DOVES_relaxed.owl
MONDO:0002404	biolink:NamedThing	liver hemangioma	A hemangioma arising from the liver.	DOVES_relaxed.owl
MONDO:0003062	biolink:NamedThing	intestinal benign neoplasm	A benign neoplasm that involves the intestine.	DOVES_relaxed.owl
MONDO:0003455	biolink:NamedThing	bile duct papillary neoplasm	A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts.	DOVES_relaxed.owl
MONDO:0008401	biolink:NamedThing	pleomorphic adenoma	A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma).	DOVES_relaxed.owl
MONDO:0021470	biolink:NamedThing	benign neoplasm of pancreas	A benign neoplasm that involves the pancreas.	DOVES_relaxed.owl
MONDO:0021503	biolink:NamedThing	benign neoplasm of gallbladder	A benign neoplasm that involves the gall bladder.	DOVES_relaxed.owl
MONDO:0006104	biolink:NamedThing	benign carotid body paraganglioma	A carotid body paraganglioma that is confined to the site of origin, without metastatic potential.	DOVES_relaxed.owl
MONDO:0006107	biolink:NamedThing	benign thyroid gland neoplasm	A benign neoplasm arising from the thyroid gland.	DOVES_relaxed.owl
MONDO:0016723	biolink:NamedThing	pineocytoma	Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.	DOVES_relaxed.owl
MONDO:0021463	biolink:NamedThing	benign neoplasm of parathyroid gland	A benign neoplasm that involves the parathyroid gland.	DOVES_relaxed.owl
MONDO:0021511	biolink:NamedThing	benign neoplasm of adrenal gland	A benign neoplasm that involves the adrenal gland.	DOVES_relaxed.owl
MONDO:0021512	biolink:NamedThing	benign neoplasm of thymus	A benign neoplasm that involves the thymus.	DOVES_relaxed.owl
MONDO:0002605	biolink:NamedThing	hepatic angiomyolipoma	An angiomyolipoma arising from the liver.	DOVES_relaxed.owl
MONDO:0002691	biolink:NamedThing	liver cancer	An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma.	DOVES_relaxed.owl
MONDO:0004705	biolink:NamedThing	liver solitary fibrous tumor	A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort.	DOVES_relaxed.owl
MONDO:0004726	biolink:NamedThing	liver inflammatory myofibroblastic tumor	A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.	DOVES_relaxed.owl
MONDO:0005304	biolink:NamedThing	biliary tract neoplasm	A neoplasm that involves the biliary tract.	DOVES_relaxed.owl
MONDO:0006241	biolink:NamedThing	hepatic granuloma	A granuloma located in the liver.	DOVES_relaxed.owl
MONDO:0015049	biolink:NamedThing	solitary necrotic nodule of the liver	Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.	DOVES_relaxed.owl
MONDO:0015795	biolink:NamedThing	undifferentiated embryonal sarcoma of the liver	Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.	DOVES_relaxed.owl
MONDO:0018308	biolink:NamedThing	liver mesenchymal hamartoma	A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good.	DOVES_relaxed.owl
MONDO:0018533	biolink:NamedThing	undifferentiated carcinoma of liver and intrahepatic biliary tract	Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated.	DOVES_relaxed.owl
MONDO:0019528	biolink:NamedThing	inflammatory pseudotumor of the liver	Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion.	DOVES_relaxed.owl
MONDO:0035312	biolink:NamedThing	fibrohistiocytic inflammatory pseudotumor of the liver	A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding.	DOVES_relaxed.owl
MONDO:0035313	biolink:NamedThing	lymphoplasmacytic inflammatory pseudotumor of the liver	A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding.	DOVES_relaxed.owl
MONDO:0035447	biolink:NamedThing	liver adenomatosis	A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases.	DOVES_relaxed.owl
MONDO:0002385	biolink:NamedThing	benign cystic nephroma	A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid.	DOVES_relaxed.owl
MONDO:0002396	biolink:NamedThing	nephrogenic adenofibroma	A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells.	DOVES_relaxed.owl
MONDO:0003825	biolink:NamedThing	kidney oncocytoma	A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions.	DOVES_relaxed.owl
MONDO:0004191	biolink:NamedThing	nephrogenic adenoma	So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria.	DOVES_relaxed.owl
MONDO:0004555	biolink:NamedThing	kidney angiomyolipoma	An angiomyolipoma arising from the kidney.	DOVES_relaxed.owl
MONDO:0018738	biolink:NamedThing	benign metanephric tumour	A benign neoplasm that involves the metanephros.	DOVES_relaxed.owl
MONDO:0021467	biolink:NamedThing	benign neoplasm of renal pelvis	A benign neoplasm that involves the renal pelvis.	DOVES_relaxed.owl
MONDO:0024889	biolink:NamedThing	benign mesonephroma	A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants.	DOVES_relaxed.owl
MONDO:0024326	biolink:NamedThing	pleural adenomatoid tumor	A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma.	DOVES_relaxed.owl
MONDO:0001011	biolink:NamedThing	breast cyst	A cystic lesion located in breast tissue.	DOVES_relaxed.owl
MONDO:0002055	biolink:NamedThing	benign eccrine breast spiradenoma	A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells.	DOVES_relaxed.owl
MONDO:0002056	biolink:NamedThing	breast fibroadenoma	A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported.	DOVES_relaxed.owl
MONDO:0002062	biolink:NamedThing	breast myofibroblastoma	A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass.	DOVES_relaxed.owl
MONDO:0002063	biolink:NamedThing	breast papillomatosis	A benign breast neoplasm characterized by the proliferation of multiple papillomas.	DOVES_relaxed.owl
MONDO:0002065	biolink:NamedThing	benign breast adenomyoepithelioma	A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation.	DOVES_relaxed.owl
MONDO:0014249	biolink:NamedThing	multiple fibroadenoma of the breast	Mammary polyadenomatosis is characterised by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns.	DOVES_relaxed.owl
MONDO:0015871	biolink:NamedThing	benign breast phyllodes tumor	A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors.	DOVES_relaxed.owl
MONDO:0015872	biolink:NamedThing	giant adenofibroma of the breast	Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement.	DOVES_relaxed.owl
MONDO:0021097	biolink:NamedThing	intraductal breast papilloma	A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units.	DOVES_relaxed.owl
MONDO:0021528	biolink:NamedThing	benign neoplasm of male breast	A non-metastasizing neoplasm that arises from the breast parenchyma in males.	DOVES_relaxed.owl
MONDO:0022972	biolink:NamedThing	diabetic mastopathy	Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es).	DOVES_relaxed.owl
MONDO:0003364	biolink:NamedThing	gallbladder leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0007888	biolink:NamedThing	hereditary leiomyomatosis and renal cell cancer	Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.	DOVES_relaxed.owl
MONDO:0008583	biolink:NamedThing	inherited torticollis	A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.	DOVES_relaxed.owl
MONDO:0011934	biolink:NamedThing	dermatofibrosarcoma protuberans	Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).	DOVES_relaxed.owl
MONDO:0018933	biolink:NamedThing	Mazabraud syndrome	Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.	DOVES_relaxed.owl
MONDO:0007660	biolink:NamedThing	familial ossifying fibroma	An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0008429	biolink:NamedThing	Singleton-Merten dysplasia	Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).	DOVES_relaxed.owl
MONDO:0009842	biolink:NamedThing	Pelger-Huet-like anomaly and episodic fever with abdominal pain	An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.	DOVES_relaxed.owl
MONDO:0011431	biolink:NamedThing	MASS syndrome	A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.	DOVES_relaxed.owl
MONDO:0011462	biolink:NamedThing	pyogenic arthritis-pyoderma gangrenosum-acne syndrome	A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.	DOVES_relaxed.owl
MONDO:0011939	biolink:NamedThing	Spondyloenchondrodysplasia with immune dysregulation		DOVES_relaxed.owl
MONDO:0012316	biolink:NamedThing	Majeed syndrome	Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.	DOVES_relaxed.owl
MONDO:0012892	biolink:NamedThing	bone fragility with contractures, arterial rupture, and deafness	A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.	DOVES_relaxed.owl
MONDO:0013021	biolink:NamedThing	sterile multifocal osteomyelitis with periostitis and pustulosis	An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.	DOVES_relaxed.owl
MONDO:0013626	biolink:NamedThing	psoriasis 14, pustular	Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene.	DOVES_relaxed.owl
MONDO:0014831	biolink:NamedThing	progeroid and marfanoid aspect-lipodystrophy syndrome		DOVES_relaxed.owl
MONDO:0014837	biolink:NamedThing	thrombocytopenia 6		DOVES_relaxed.owl
MONDO:0016542	biolink:NamedThing	immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.	DOVES_relaxed.owl
MONDO:0017310	biolink:NamedThing	Marfan and Marfan-related disorder		DOVES_relaxed.owl
MONDO:0017824	biolink:NamedThing	familial isolated pituitary adenoma		DOVES_relaxed.owl
MONDO:0017893	biolink:NamedThing	inherited acute myeloid leukemia	An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0017953	biolink:NamedThing	hereditary periodic fever syndrome	An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0017992	biolink:NamedThing	autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis		DOVES_relaxed.owl
MONDO:0018828	biolink:NamedThing	pseudo-TORCH syndrome 2		DOVES_relaxed.owl
MONDO:0021064	biolink:NamedThing	jugulotympanic paraganglioma	A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear.	DOVES_relaxed.owl
MONDO:0026777	biolink:NamedThing	VEXAS syndrome	An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death.	DOVES_relaxed.owl
MONDO:0031384	biolink:NamedThing	autoinflammatory syndrome, familial, Behcet-like		DOVES_relaxed.owl
MONDO:0021235	biolink:NamedThing	external ear neoplasm	A neoplasm (disease) that involves the external ear.	DOVES_relaxed.owl
MONDO:0003574	biolink:NamedThing	external ear cancer	A malignant neoplasm involving the external ear.	DOVES_relaxed.owl
MONDO:0021402	biolink:NamedThing	polyp of external auditory canal	A polyp that involves the external acoustic meatus.	DOVES_relaxed.owl
MONDO:0021474	biolink:NamedThing	benign neoplasm of ear	A benign neoplasm that involves the ear.	DOVES_relaxed.owl
MONDO:0021482	biolink:NamedThing	benign neoplasm of middle ear	A benign neoplasm that involves the middle ear.	DOVES_relaxed.owl
MONDO:0000975	biolink:NamedThing	lipoma of spermatic cord	A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions.	DOVES_relaxed.owl
MONDO:0021447	biolink:NamedThing	benign neoplasm of testis	A benign neoplasm that involves the testis.	DOVES_relaxed.owl
MONDO:0021458	biolink:NamedThing	benign neoplasm of penis	A benign neoplasm that involves the penis.	DOVES_relaxed.owl
MONDO:0021472	biolink:NamedThing	benign neoplasm of scrotum	A benign neoplasm that involves the scrotum.	DOVES_relaxed.owl
MONDO:0021473	biolink:NamedThing	benign neoplasm of epididymis	A benign neoplasm that involves the epididymis.	DOVES_relaxed.owl
MONDO:0021510	biolink:NamedThing	benign neoplasm of prostate	A benign neoplasm that involves the prostate gland.	DOVES_relaxed.owl
MONDO:0003283	biolink:NamedThing	epididymal neoplasm	A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma.	DOVES_relaxed.owl
MONDO:0003319	biolink:NamedThing	scrotum neoplasm	A benign or malignant neoplasm that affects the scrotum.	DOVES_relaxed.owl
MONDO:0006895	biolink:NamedThing	penile neoplasm	A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma.	DOVES_relaxed.owl
MONDO:0021348	biolink:NamedThing	neoplasm of testis	A neoplasm (disease) that involves the testis.	DOVES_relaxed.owl
MONDO:0000978	biolink:NamedThing	extrahepatic bile duct lipoma	A rare benign adipose tissue neoplasm of the extrahepatic bile duct.	DOVES_relaxed.owl
MONDO:0021385	biolink:NamedThing	extrahepatic bile duct neoplasm	A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma.	DOVES_relaxed.owl
MONDO:0003286	biolink:NamedThing	extrahepatic bile duct leiomyoma	A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0003445	biolink:NamedThing	extrahepatic bile duct adenoma	An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary.	DOVES_relaxed.owl
MONDO:0015073	biolink:NamedThing	gallbladder neuroendocrine tumor, grade 1/2	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder.	DOVES_relaxed.owl
MONDO:0018918	biolink:NamedThing	carcinoma of gallbladder and extrahepatic biliary tract	Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.	DOVES_relaxed.owl
MONDO:0000980	biolink:NamedThing	aortic atherosclerosis	A atherosclerosis that involves the aorta.	DOVES_relaxed.owl
MONDO:0005311	biolink:NamedThing	atherosclerosis	Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen.	DOVES_relaxed.owl
MONDO:0002275	biolink:NamedThing	generalized atherosclerosis	Atherosclerosis that is not localized.	DOVES_relaxed.owl
MONDO:0006694	biolink:NamedThing	cerebral atherosclerosis	Atherosclerosis of the cerebral vasculature.	DOVES_relaxed.owl
MONDO:0021661	biolink:NamedThing	coronary atherosclerosis	Atherosclerosis of the coronary vasculature.	DOVES_relaxed.owl
MONDO:0030702	biolink:NamedThing	autoimmune atherosclerosis	An autoimmune form of atherosclerosis.	DOVES_relaxed.owl
MONDO:0005561	biolink:NamedThing	aortic disorder	Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)	DOVES_relaxed.owl
MONDO:0001863	biolink:NamedThing	aorta atresia	An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.	DOVES_relaxed.owl
MONDO:0002286	biolink:NamedThing	renal artery disease	A disease involving the renal artery.	DOVES_relaxed.owl
MONDO:0004539	biolink:NamedThing	aortic malignant tumor	A cancer that involves the aorta.	DOVES_relaxed.owl
MONDO:0005160	biolink:NamedThing	aortic aneurysm	A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.	DOVES_relaxed.owl
MONDO:0005997	biolink:NamedThing	tricuspid valve stenosis	Narrowing or stricture of the tricuspid orifice of the heart.	DOVES_relaxed.owl
MONDO:0006656	biolink:NamedThing	aortitis	Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders.	DOVES_relaxed.owl
MONDO:0007001	biolink:NamedThing	tricuspid valve prolapse	Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus.	DOVES_relaxed.owl
MONDO:0015197	biolink:NamedThing	aneurysm of sinus of Valsalva	Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.	DOVES_relaxed.owl
MONDO:0850095	biolink:NamedThing	X-linked severe syndromic thoracic aortic aneurysm and dissection		DOVES_relaxed.owl
MONDO:0000981	biolink:NamedThing	Histoplasma pericarditis	An pericarditis (disease) caused by infection with Histoplasma.	DOVES_relaxed.owl
MONDO:0001049	biolink:NamedThing	Dressler syndrome	A pericarditis characterized by inflammation, occurring after injury, located in pericardium.	DOVES_relaxed.owl
MONDO:0006711	biolink:NamedThing	constrictive pericarditis	A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function.	DOVES_relaxed.owl
MONDO:0023164	biolink:NamedThing	viral pericarditis	Pericarditis that is caused by an infection with a viral agent.	DOVES_relaxed.owl
MONDO:0024655	biolink:NamedThing	rheumatic pericarditis		DOVES_relaxed.owl
MONDO:0002099	biolink:NamedThing	Histoplasma capsulatum infectious disease	An disease or disorder caused by infection with Histoplasma capsulatum.	DOVES_relaxed.owl
MONDO:0000983	biolink:NamedThing	exhibitionism	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.	DOVES_relaxed.owl
MONDO:0001135	biolink:NamedThing	voyeurism	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity.	DOVES_relaxed.owl
MONDO:0001504	biolink:NamedThing	fetishism	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects such as women's wearing apparel (the "fetish").	DOVES_relaxed.owl
MONDO:0001692	biolink:NamedThing	pedophilia	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children.	DOVES_relaxed.owl
MONDO:0004759	biolink:NamedThing	bestiality		DOVES_relaxed.owl
MONDO:0000984	biolink:NamedThing	thalassemia	An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.	DOVES_relaxed.owl
MONDO:0010519	biolink:NamedThing	alpha thalassemia-X-linked intellectual disability syndrome	X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.	DOVES_relaxed.owl
MONDO:0020459	biolink:NamedThing	unstable hemoglobin disease		DOVES_relaxed.owl
MONDO:0020989	biolink:NamedThing	hereditary persistence of fetal hemoglobin	The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin.	DOVES_relaxed.owl
MONDO:0000986	biolink:NamedThing	pleurisy	Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom.	DOVES_relaxed.owl
MONDO:0002037	biolink:NamedThing	pleural disorder	A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor.	DOVES_relaxed.owl
MONDO:0002076	biolink:NamedThing	pneumothorax	Abnormal presence of air in the pleural cavity.	DOVES_relaxed.owl
MONDO:0011331	biolink:NamedThing	congenital chylothorax	Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.	DOVES_relaxed.owl
MONDO:0018667	biolink:NamedThing	pleural empyema	The presence of pus in the thoracic cavity, between the visceral and parietal pleura.	DOVES_relaxed.owl
MONDO:0021065	biolink:NamedThing	pleural neoplasm	A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura.	DOVES_relaxed.owl
MONDO:0000987	biolink:NamedThing	cholesterolosis of gallbladder	A disorder characterized by a change in the gallbladder wall due to excess cholesterol.	DOVES_relaxed.owl
MONDO:0002155	biolink:NamedThing	cholecystitis	An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones.	DOVES_relaxed.owl
MONDO:0004858	biolink:NamedThing	occlusion of gallbladder	Blockage of the normal flow of the contents of the gallbladder.	DOVES_relaxed.owl
MONDO:0004859	biolink:NamedThing	hydrops of gallbladder		DOVES_relaxed.owl
MONDO:0005346	biolink:NamedThing	gallstones	Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin.	DOVES_relaxed.owl
MONDO:0005667	biolink:NamedThing	biliary dyskinesia	A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction.	DOVES_relaxed.owl
MONDO:0006698	biolink:NamedThing	cholecystolithiasis	Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity.	DOVES_relaxed.owl
MONDO:0012365	biolink:NamedThing	gallbladder disease 2		DOVES_relaxed.owl
MONDO:0012366	biolink:NamedThing	gallbladder disease 3		DOVES_relaxed.owl
MONDO:0012672	biolink:NamedThing	cholelithiasis	The presence of calculi in the gallbladder.	DOVES_relaxed.owl
MONDO:0021253	biolink:NamedThing	gallbladder neoplasm	A neoplasm (disease) that involves the gall bladder.	DOVES_relaxed.owl
MONDO:0021416	biolink:NamedThing	polyp of gallbladder	A polyp that involves the gall bladder.	DOVES_relaxed.owl
MONDO:0043291	biolink:NamedThing	Rokitansky-Aschoff sinuses of the gallbladder	An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones.	DOVES_relaxed.owl
MONDO:0000988	biolink:NamedThing	discharging ear	Discharge or drainage of fluid from the ear.	DOVES_relaxed.owl
MONDO:0002409	biolink:NamedThing	auditory system disorder	A disease involving the auditory system.	DOVES_relaxed.owl
MONDO:0001199	biolink:NamedThing	dislocation of ear ossicle	Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity.	DOVES_relaxed.owl
MONDO:0001234	biolink:NamedThing	adhesive otitis media	An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear.	DOVES_relaxed.owl
MONDO:0002453	biolink:NamedThing	retrocochlear disease	Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss.	DOVES_relaxed.owl
MONDO:0002467	biolink:NamedThing	inner ear disorder	A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems.	DOVES_relaxed.owl
MONDO:0002776	biolink:NamedThing	external ear disorder	A disease involving the external ear.	DOVES_relaxed.owl
MONDO:0003276	biolink:NamedThing	middle ear disorder	A disease involving the middle ear.	DOVES_relaxed.owl
MONDO:0004532	biolink:NamedThing	auditory system cancer	A malignant neoplasm involving the auditory system	DOVES_relaxed.owl
MONDO:0000989	biolink:NamedThing	mumps infectious disease	A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease.	DOVES_relaxed.owl
MONDO:0005896	biolink:NamedThing	Paramyxoviridae infectious disease	Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections.	DOVES_relaxed.owl
MONDO:0005660	biolink:NamedThing	Avulavirus infectious disease	Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl.	DOVES_relaxed.owl
MONDO:0005785	biolink:NamedThing	henipavirus infectious disease	Infections with viruses of the genus henipavirus, family paramyxoviridae.	DOVES_relaxed.owl
MONDO:0005857	biolink:NamedThing	morbillivirus infectious disease	Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions.	DOVES_relaxed.owl
MONDO:0005940	biolink:NamedThing	respirovirus infectious disease	Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface.	DOVES_relaxed.owl
MONDO:0100197	biolink:NamedThing	parainfluenza infectious disease	A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults.	DOVES_relaxed.owl
MONDO:0000990	biolink:NamedThing	acute subendocardial myocardial infarction	Acute form of subendocardial myocardial infarction.	DOVES_relaxed.owl
MONDO:0003674	biolink:NamedThing	subendocardial myocardial infarction	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart.	DOVES_relaxed.owl
MONDO:0001088	biolink:NamedThing	acute inferoposterior infarction		DOVES_relaxed.owl
MONDO:0001089	biolink:NamedThing	acute inferolateral myocardial infarction		DOVES_relaxed.owl
MONDO:0001090	biolink:NamedThing	acute anterolateral myocardial infarction	Acute form of anterolateral myocardial infarction.	DOVES_relaxed.owl
MONDO:0004780	biolink:NamedThing	strictly posterior acute myocardial infarction		DOVES_relaxed.owl
MONDO:0041656	biolink:NamedThing	ST-elevation myocardial infarction	A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG.	DOVES_relaxed.owl
MONDO:0005159	biolink:NamedThing	prostate carcinoma	A carcinoma that arises from epithelial cells of the prostate gland.	DOVES_relaxed.owl
MONDO:0002834	biolink:NamedThing	primary prostate urothelial carcinoma	An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra.	DOVES_relaxed.owl
MONDO:0004956	biolink:NamedThing	metastatic prostate carcinoma	A carcinoma that arises from the prostate gland and has spread to other anatomic sites.	DOVES_relaxed.owl
MONDO:0006390	biolink:NamedThing	prostate small cell carcinoma	A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells.	DOVES_relaxed.owl
MONDO:0056814	biolink:NamedThing	hormone-resistant prostate carcinoma	Prostate carcinoma that does not respond to hormone therapy.	DOVES_relaxed.owl
MONDO:0000994	biolink:NamedThing	malignant prostate phyllodes tumor	An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia.	DOVES_relaxed.owl
MONDO:0002367	biolink:NamedThing	kidney cancer	Primary or metastatic malignant neoplasm involving the kidney.	DOVES_relaxed.owl
MONDO:0004192	biolink:NamedThing	urethra cancer	A malignant neoplasm involving the urethra	DOVES_relaxed.owl
MONDO:0008627	biolink:NamedThing	ureter cancer	A malignant neoplasm involving the ureter	DOVES_relaxed.owl
MONDO:0040678	biolink:NamedThing	infiltrating urothelial carcinoma	A invasive carcinoma that involves the urothelium.	DOVES_relaxed.owl
MONDO:0040679	biolink:NamedThing	urothelial carcinoma	A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary.	DOVES_relaxed.owl
MONDO:0008315	biolink:NamedThing	prostate cancer	A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas.	DOVES_relaxed.owl
MONDO:0000996	biolink:NamedThing	prostate lymphoma	A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland.	DOVES_relaxed.owl
MONDO:0002854	biolink:NamedThing	prostate sarcoma	A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma.	DOVES_relaxed.owl
MONDO:0021102	biolink:NamedThing	prostate phyllodes tumor	An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma.	DOVES_relaxed.owl
MONDO:0037003	biolink:NamedThing	malignant phyllodes tumor	A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases.	DOVES_relaxed.owl
MONDO:0002489	biolink:NamedThing	malignant breast phyllodes tumor	A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present.	DOVES_relaxed.owl
MONDO:0000995	biolink:NamedThing	familial periodic paralysis	A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally.	DOVES_relaxed.owl
MONDO:0006507	biolink:NamedThing	hereditary hemochromatosis	An inherited metabolic disorder characterized by iron accumulation in the tissues.	DOVES_relaxed.owl
MONDO:0008713	biolink:NamedThing	acrodermatitis enteropathica	Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.	DOVES_relaxed.owl
MONDO:0008846	biolink:NamedThing	atransferrinemia	Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.	DOVES_relaxed.owl
MONDO:0010200	biolink:NamedThing	Wilson disease	A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.	DOVES_relaxed.owl
MONDO:0018100	biolink:NamedThing	familial primary hypomagnesemia	A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration.	DOVES_relaxed.owl
MONDO:0020480	biolink:NamedThing	sulfite oxidase deficiency due to molybdenum cofactor deficiency		DOVES_relaxed.owl
MONDO:0008222	biolink:NamedThing	Andersen-Tawil syndrome	Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.	DOVES_relaxed.owl
MONDO:0018344	biolink:NamedThing	periodic paralysis with transient compartment-like syndrome		DOVES_relaxed.owl
MONDO:0009501	biolink:NamedThing	metabolic myopathy due to lactate transporter defect	Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.	DOVES_relaxed.owl
MONDO:0009706	biolink:NamedThing	hereditary myopathy with lactic acidosis due to ISCU deficiency	Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.	DOVES_relaxed.owl
MONDO:0016117	biolink:NamedThing	muscular lipidosis		DOVES_relaxed.owl
MONDO:0016118	biolink:NamedThing	muscular glycogenosis		DOVES_relaxed.owl
MONDO:0005062	biolink:NamedThing	lymphoma	A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.	DOVES_relaxed.owl
MONDO:0001130	biolink:NamedThing	nasal cavity lymphoma	A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area.	DOVES_relaxed.owl
MONDO:0001381	biolink:NamedThing	bladder lymphoma	A lymphoma that involves the urinary bladder.	DOVES_relaxed.owl
MONDO:0001417	biolink:NamedThing	tracheal lymphoma	A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor.	DOVES_relaxed.owl
MONDO:0001499	biolink:NamedThing	retroperitoneal lymphoma	A lymphoma that involves the retroperitoneal space.	DOVES_relaxed.owl
MONDO:0001977	biolink:NamedThing	ureteral lymphoma	A lymphoma that involves the ureter.	DOVES_relaxed.owl
MONDO:0002227	biolink:NamedThing	ovarian lymphoma	A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected.	DOVES_relaxed.owl
MONDO:0003658	biolink:NamedThing	B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma	A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma.	DOVES_relaxed.owl
MONDO:0003661	biolink:NamedThing	breast lymphoma	A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare.	DOVES_relaxed.owl
MONDO:0003917	biolink:NamedThing	heart lymphoma	An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope.	DOVES_relaxed.owl
MONDO:0003985	biolink:NamedThing	chest wall lymphoma	A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas.	DOVES_relaxed.owl
MONDO:0003987	biolink:NamedThing	lung lymphoma	A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis.	DOVES_relaxed.owl
MONDO:0004034	biolink:NamedThing	eye lymphoma	A lymphoma that involves the eye.	DOVES_relaxed.owl
MONDO:0004699	biolink:NamedThing	gastrointestinal lymphoma	A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site.	DOVES_relaxed.owl
MONDO:0004952	biolink:NamedThing	Hodgkins lymphoma	Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes.	DOVES_relaxed.owl
MONDO:0005710	biolink:NamedThing	composite lymphoma	Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site.	DOVES_relaxed.owl
MONDO:0006078	biolink:NamedThing	AIDS-related primary central nervous system lymphoma	A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients.	DOVES_relaxed.owl
MONDO:0017207	biolink:NamedThing	primary organ-specific lymphoma		DOVES_relaxed.owl
MONDO:0019483	biolink:NamedThing	methotrexate-associated lymphoproliferative disorders	Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.	DOVES_relaxed.owl
MONDO:0043346	biolink:NamedThing	progressive transformation of germinal centers	Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma.	DOVES_relaxed.owl
MONDO:0000997	biolink:NamedThing	monocular esotropia	A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.	DOVES_relaxed.owl
MONDO:0004896	biolink:NamedThing	esotropia	A form of strabismus in which one or both eyes are deviated medially.	DOVES_relaxed.owl
MONDO:0004895	biolink:NamedThing	accommodative esotropia		DOVES_relaxed.owl
MONDO:0004913	biolink:NamedThing	alternating esotropia		DOVES_relaxed.owl
MONDO:0001000	biolink:NamedThing	mixed mineral dust pneumoconiosis	Pneumoconiosis caused by the inhalation of mixed mineral dust particles.	DOVES_relaxed.owl
MONDO:0015926	biolink:NamedThing	pneumoconiosis	An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis.	DOVES_relaxed.owl
MONDO:0001001	biolink:NamedThing	baritosis	A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops.	DOVES_relaxed.owl
MONDO:0001003	biolink:NamedThing	pneumoconiosis due to talc	Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities.	DOVES_relaxed.owl
MONDO:0001004	biolink:NamedThing	slate pneumoconiosis	Pneumoconiosis caused by exposure to slate dust.	DOVES_relaxed.owl
MONDO:0005690	biolink:NamedThing	Caplan syndrome	A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray.	DOVES_relaxed.owl
MONDO:0005960	biolink:NamedThing	silicosis	Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition.	DOVES_relaxed.owl
MONDO:0006653	biolink:NamedThing	anthracosilicosis	Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath.	DOVES_relaxed.owl
MONDO:0006654	biolink:NamedThing	anthracosis	A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners.	DOVES_relaxed.owl
MONDO:0006688	biolink:NamedThing	byssinosis	An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week.	DOVES_relaxed.owl
MONDO:0008346	biolink:NamedThing	pulmonary hemosiderosis	Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.	DOVES_relaxed.owl
MONDO:0015274	biolink:NamedThing	chronic beryllium disease	Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.	DOVES_relaxed.owl
MONDO:0016466	biolink:NamedThing	asbestosis	A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain.	DOVES_relaxed.owl
MONDO:0022745	biolink:NamedThing	mixed dust pneumoconiosis		DOVES_relaxed.owl
MONDO:0001005	biolink:NamedThing	kaolin pneumoconiosis	Pneumoconiosis caused by inhalation of kaolin dust.	DOVES_relaxed.owl
MONDO:0001006	biolink:NamedThing	glaucomatous atrophy of optic disc		DOVES_relaxed.owl
MONDO:0003608	biolink:NamedThing	optic atrophy	A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.	DOVES_relaxed.owl
MONDO:0001084	biolink:NamedThing	primary optic atrophy		DOVES_relaxed.owl
MONDO:0001086	biolink:NamedThing	partial optic atrophy		DOVES_relaxed.owl
MONDO:0001205	biolink:NamedThing	hypersecretion glaucoma		DOVES_relaxed.owl
MONDO:0001206	biolink:NamedThing	aqueous misdirection		DOVES_relaxed.owl
MONDO:0001554	biolink:NamedThing	phacogenic glaucoma	Secondary glaucoma caused by either excessive size or spheric shape of the lens.	DOVES_relaxed.owl
MONDO:0001626	biolink:NamedThing	traumatic glaucoma		DOVES_relaxed.owl
MONDO:0001744	biolink:NamedThing	angle-closure glaucoma	The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity.	DOVES_relaxed.owl
MONDO:0004744	biolink:NamedThing	borderline glaucoma		DOVES_relaxed.owl
MONDO:0004930	biolink:NamedThing	steroid-induced glaucoma		DOVES_relaxed.owl
MONDO:0005338	biolink:NamedThing	open-angle glaucoma	Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage.	DOVES_relaxed.owl
MONDO:0019783	biolink:NamedThing	neovascular glaucoma	Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.	DOVES_relaxed.owl
MONDO:0001007	biolink:NamedThing	chronic meningitis	Chronic form of meningitis (disease).	DOVES_relaxed.owl
MONDO:0021108	biolink:NamedThing	meningitis	A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.	DOVES_relaxed.owl
MONDO:0006662	biolink:NamedThing	aseptic meningitis	Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen.	DOVES_relaxed.owl
MONDO:0024620	biolink:NamedThing	meningitis caused by poliovirus		DOVES_relaxed.owl
MONDO:0024891	biolink:NamedThing	non-infectious meningitis		DOVES_relaxed.owl
MONDO:0001009	biolink:NamedThing	solitary cyst of breast	A single, fluid-filled cyst in the breast parenchyma.	DOVES_relaxed.owl
MONDO:0001099	biolink:NamedThing	lactocele	Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice.	DOVES_relaxed.owl
MONDO:0001014	biolink:NamedThing	chronic leukemia	A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.	DOVES_relaxed.owl
MONDO:0005059	biolink:NamedThing	leukemia	A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years.	DOVES_relaxed.owl
MONDO:0001394	biolink:NamedThing	chronic erythremia		DOVES_relaxed.owl
MONDO:0001606	biolink:NamedThing	central nervous system leukemia	Leukemia infiltrating the central nervous system structures.	DOVES_relaxed.owl
MONDO:0003730	biolink:NamedThing	aleukemic leukemia	A leukemia characterized by the absence of leukemic cells in the peripheral blood.	DOVES_relaxed.owl
MONDO:0004107	biolink:NamedThing	splenic manifestation of leukemia	A leukemia (disease) that involves the spleen.	DOVES_relaxed.owl
MONDO:0004600	biolink:NamedThing	monocytic leukemia		DOVES_relaxed.owl
MONDO:0004643	biolink:NamedThing	myeloid leukemia	A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia.	DOVES_relaxed.owl
MONDO:0005402	biolink:NamedThing	lymphoid leukemia	A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.	DOVES_relaxed.owl
MONDO:0020334	biolink:NamedThing	mast cell leukemia	Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells.	DOVES_relaxed.owl
MONDO:0001015	biolink:NamedThing	eosinophilic meningitis	Meningitis in which eosinophils predominate in the cerebrospinal fluid.	DOVES_relaxed.owl
MONDO:0001016	biolink:NamedThing	epididymis cancer	A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site.	DOVES_relaxed.owl
MONDO:0001325	biolink:NamedThing	penile cancer	A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma.	DOVES_relaxed.owl
MONDO:0001654	biolink:NamedThing	spermatic cord cancer	A malignant neoplasm involving the spermatic cord.	DOVES_relaxed.owl
MONDO:0004311	biolink:NamedThing	carcinoma of Cowper glands	A carcinoma that involves the bulbo-urethral gland.	DOVES_relaxed.owl
MONDO:0021112	biolink:NamedThing	scrotum cancer	A primary or metastatic malignant neoplasm affecting the scrotum.	DOVES_relaxed.owl
MONDO:0001019	biolink:NamedThing	suppression amblyopia	A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications.	DOVES_relaxed.owl
MONDO:0001021	biolink:NamedThing	ametropic amblyopia		DOVES_relaxed.owl
MONDO:0001022	biolink:NamedThing	disuse amblyopia		DOVES_relaxed.owl
MONDO:0004614	biolink:NamedThing	chronic monocytic leukemia	Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites.	DOVES_relaxed.owl
MONDO:0015687	biolink:NamedThing	chronic eosinophilic leukemia		DOVES_relaxed.owl
MONDO:0019451	biolink:NamedThing	chronic neutrophilic leukemia	A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene.	DOVES_relaxed.owl
MONDO:0019469	biolink:NamedThing	T-cell large granular lymphocyte leukemia	T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.	DOVES_relaxed.owl
MONDO:0020311	biolink:NamedThing	chronic myelomonocytic leukemia	A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.	DOVES_relaxed.owl
MONDO:0001640	biolink:NamedThing	gonococcal spondylitis	An spondylitis caused by infection with Neisseria gonorrhoeae.	DOVES_relaxed.owl
MONDO:0001719	biolink:NamedThing	gonococcal bursitis	An bursitis caused by infection with Neisseria gonorrhoeae.	DOVES_relaxed.owl
MONDO:0015455	biolink:NamedThing	gonococcal conjunctivitis	Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery.	DOVES_relaxed.owl
MONDO:0020971	biolink:NamedThing	gonococcal urethritis	Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact.	DOVES_relaxed.owl
MONDO:0021158	biolink:NamedThing	gonococcal epididymo-orchitis		DOVES_relaxed.owl
MONDO:0021161	biolink:NamedThing	gonococcal prostatitis	An prostatitis (disease) caused by infection with Neisseria gonorrhoeae.	DOVES_relaxed.owl
MONDO:0041903	biolink:NamedThing	gonococcal infection of joint		DOVES_relaxed.owl
MONDO:0004767	biolink:NamedThing	vesiculitis	An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle.	DOVES_relaxed.owl
MONDO:0004508	biolink:NamedThing	periapical periodontitis	Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess.	DOVES_relaxed.owl
MONDO:0005593	biolink:NamedThing	chronic periodontitis	A chronic inflammatory process that affects the tissues that surround and support the teeth.	DOVES_relaxed.owl
MONDO:0006899	biolink:NamedThing	pericoronitis	Inflammation of the gingiva surrounding the crown of a tooth.	DOVES_relaxed.owl
MONDO:0005975	biolink:NamedThing	suppurative otitis media	Inflammation of the middle ear with purulent discharge.	DOVES_relaxed.owl
MONDO:0001920	biolink:NamedThing	chronic purulent otitis media	Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane.	DOVES_relaxed.owl
MONDO:0001964	biolink:NamedThing	chronic tubotympanic suppurative otitis media	A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections.	DOVES_relaxed.owl
MONDO:0001032	biolink:NamedThing	Mooren ulcer		DOVES_relaxed.owl
MONDO:0004577	biolink:NamedThing	corneal ulcer	Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber.	DOVES_relaxed.owl
MONDO:0001033	biolink:NamedThing	mycotic corneal ulcer		DOVES_relaxed.owl
MONDO:0001034	biolink:NamedThing	marginal corneal ulcer		DOVES_relaxed.owl
MONDO:0001037	biolink:NamedThing	ring corneal ulcer		DOVES_relaxed.owl
MONDO:0001038	biolink:NamedThing	perforated corneal ulcer		DOVES_relaxed.owl
MONDO:0004918	biolink:NamedThing	central corneal ulcer		DOVES_relaxed.owl
MONDO:0001035	biolink:NamedThing	hypopyon ulcer		DOVES_relaxed.owl
MONDO:0001036	biolink:NamedThing	hypopyon	An accumulation of pus in the anterior chamber of the eye.	DOVES_relaxed.owl
MONDO:0004774	biolink:NamedThing	gonococcal iridocyclitis	An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae.	DOVES_relaxed.owl
MONDO:0005375	biolink:NamedThing	nasopharyngeal neoplasm	A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma.	DOVES_relaxed.owl
MONDO:0001041	biolink:NamedThing	dentin caries	A dental caries that involves the dentine.	DOVES_relaxed.owl
MONDO:0005276	biolink:NamedThing	dental caries	The decay of a tooth, in which it becomes softened, discolored, and/or porous.	DOVES_relaxed.owl
MONDO:0001349	biolink:NamedThing	odontoclasia		DOVES_relaxed.owl
MONDO:0002233	biolink:NamedThing	enamel caries	A dental caries that involves the enamel.	DOVES_relaxed.owl
MONDO:0005591	biolink:NamedThing	pit and fissure surface dental caries		DOVES_relaxed.owl
MONDO:0005592	biolink:NamedThing	smooth surface dental caries		DOVES_relaxed.owl
MONDO:0004857	biolink:NamedThing	tendinitis	Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body.	DOVES_relaxed.owl
MONDO:0001127	biolink:NamedThing	tibialis tendinitis	A tendinitis that involves the tibialis.	DOVES_relaxed.owl
MONDO:0001594	biolink:NamedThing	Achilles bursitis	An bursitis involving a pathogenic inflammatory response in the calcaneal tendon.	DOVES_relaxed.owl
MONDO:0001903	biolink:NamedThing	calcific tendinitis		DOVES_relaxed.owl
MONDO:0004855	biolink:NamedThing	tenosynovitis	Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced.	DOVES_relaxed.owl
MONDO:0100012	biolink:NamedThing	paratenonitis	Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium.	DOVES_relaxed.owl
MONDO:0001044	biolink:NamedThing	esophageal atresia	A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed.	DOVES_relaxed.owl
MONDO:0001221	biolink:NamedThing	esophageal varices	Abnormally dilated veins of the esophagus.	DOVES_relaxed.owl
MONDO:0001656	biolink:NamedThing	megaesophagus	An abnormal dilation of the esophagus not due to obstruction.	DOVES_relaxed.owl
MONDO:0004189	biolink:NamedThing	esophageal tuberculosis	A tuberculosis that involves the esophagus.	DOVES_relaxed.owl
MONDO:0004697	biolink:NamedThing	esophageal leukoplakia	A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma.	DOVES_relaxed.owl
MONDO:0004729	biolink:NamedThing	dyskinesia of esophagus	Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus).	DOVES_relaxed.owl
MONDO:0006754	biolink:NamedThing	esophageal diverticulosis	A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus.	DOVES_relaxed.owl
MONDO:0008698	biolink:NamedThing	achalasia	A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food.	DOVES_relaxed.owl
MONDO:0013662	biolink:NamedThing	Barrett esophagus	Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)	DOVES_relaxed.owl
MONDO:0019513	biolink:NamedThing	esophageal malformation		DOVES_relaxed.owl
MONDO:0044782	biolink:NamedThing	esophageal ulcer	An ulcerated lesion in the esophageal wall.	DOVES_relaxed.owl
MONDO:0001045	biolink:NamedThing	intestinal atresia	A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine.	DOVES_relaxed.owl
MONDO:0001075	biolink:NamedThing	steatorrhea	A finding of an excessive amount of fat in the stool.	DOVES_relaxed.owl
MONDO:0001138	biolink:NamedThing	angiodysplasia of intestine	A angiodysplasia that involves the intestine.	DOVES_relaxed.owl
MONDO:0001284	biolink:NamedThing	endometriosis of intestine	Endometriosis that affects the intesines.	DOVES_relaxed.owl
MONDO:0001560	biolink:NamedThing	hypertrophic pyloric stenosis	An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration.	DOVES_relaxed.owl
MONDO:0001671	biolink:NamedThing	mucocele of appendix	Accumulation of mucus within the appendix.	DOVES_relaxed.owl
MONDO:0004565	biolink:NamedThing	intestinal obstruction	Blockage of the normal flow of the intestinal contents within the bowel.	DOVES_relaxed.owl
MONDO:0004566	biolink:NamedThing	postgastrectomy syndrome	Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies.	DOVES_relaxed.owl
MONDO:0004880	biolink:NamedThing	bowel dysfunction	Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction.	DOVES_relaxed.owl
MONDO:0005288	biolink:NamedThing	intestinal polyp	Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base.	DOVES_relaxed.owl
MONDO:0005313	biolink:NamedThing	necrotizing enterocolitis	Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death.	DOVES_relaxed.owl
MONDO:0006807	biolink:NamedThing	intestinal perforation	A rupture in the wall of the small or large intestine due to traumatic or pathologic processes.	DOVES_relaxed.owl
MONDO:0006868	biolink:NamedThing	neurogenic bowel	Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body.	DOVES_relaxed.owl
MONDO:0006912	biolink:NamedThing	pneumatosis cystoides intestinalis	The presence of gas within the wall of the large or small intestine.	DOVES_relaxed.owl
MONDO:0008808	biolink:NamedThing	aplasia cutis congenita-intestinal lymphangiectasia syndrome	Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.	DOVES_relaxed.owl
MONDO:0015178	biolink:NamedThing	congenital intestinal transport defect		DOVES_relaxed.owl
MONDO:0015183	biolink:NamedThing	short bowel syndrome	Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.	DOVES_relaxed.owl
MONDO:0016208	biolink:NamedThing	solitary rectal ulcer syndrome	Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum.	DOVES_relaxed.owl
MONDO:0016996	biolink:NamedThing	NK-cell enteropathy	Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma.	DOVES_relaxed.owl
MONDO:0017418	biolink:NamedThing	chronic intestinal failure	Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease).	DOVES_relaxed.owl
MONDO:0018178	biolink:NamedThing	intestinal lymphangiectasia	Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies.	DOVES_relaxed.owl
MONDO:0018353	biolink:NamedThing	refractory celiac disease	Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia.	DOVES_relaxed.owl
MONDO:0018438	biolink:NamedThing	eosinophilic gastrointestinal disease		DOVES_relaxed.owl
MONDO:0018765	biolink:NamedThing	cryptogenic multifocal ulcerous stenosing enteritis		DOVES_relaxed.owl
MONDO:0018766	biolink:NamedThing	chronic enteropathy associated with SLCO2A1 gene		DOVES_relaxed.owl
MONDO:0018794	biolink:NamedThing	cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder		DOVES_relaxed.owl
MONDO:0018913	biolink:NamedThing	malakoplakia	Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.	DOVES_relaxed.owl
MONDO:0019126	biolink:NamedThing	intractable diarrhea of infancy	Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium.	DOVES_relaxed.owl
MONDO:0020598	biolink:NamedThing	malabsorption syndrome	A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea.	DOVES_relaxed.owl
MONDO:0020754	biolink:NamedThing	visceral myopathy		DOVES_relaxed.owl
MONDO:0021189	biolink:NamedThing	intestinal motility disease	A disease that has its basis in the disruption of intestinal motility.	DOVES_relaxed.owl
MONDO:0024635	biolink:NamedThing	small intestine disorder	A disease that involves the small intestine.	DOVES_relaxed.owl
MONDO:0034846	biolink:NamedThing	primary desmosis coli	A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.	DOVES_relaxed.owl
MONDO:0001046	biolink:NamedThing	imperforate anus	A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities.	DOVES_relaxed.owl
MONDO:0001177	biolink:NamedThing	anorectal stricture		DOVES_relaxed.owl
MONDO:0001274	biolink:NamedThing	anal spasm		DOVES_relaxed.owl
MONDO:0003046	biolink:NamedThing	anus neoplasm	A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma.	DOVES_relaxed.owl
MONDO:0060766	biolink:NamedThing	anal polyp	A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma.	DOVES_relaxed.owl
MONDO:0018916	biolink:NamedThing	isolated anorectal malformation	Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.	DOVES_relaxed.owl
MONDO:0007136	biolink:NamedThing	genetic anorectal anomalies		DOVES_relaxed.owl
MONDO:0015731	biolink:NamedThing	high anorectal malformation	High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence.	DOVES_relaxed.owl
MONDO:0015732	biolink:NamedThing	intermediate anorectal malformation	Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections.	DOVES_relaxed.owl
MONDO:0015733	biolink:NamedThing	low anorectal malformation	Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation.	DOVES_relaxed.owl
MONDO:0001048	biolink:NamedThing	orbital granuloma	A granuloma located on the orbit of the eye.	DOVES_relaxed.owl
MONDO:0001849	biolink:NamedThing	chronic orbital inflammation		DOVES_relaxed.owl
MONDO:0004769	biolink:NamedThing	orbital plasma cell granuloma	A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis).	DOVES_relaxed.owl
MONDO:0001052	biolink:NamedThing	chronic fungal otitis externa	Chronic form of otomycosis.	DOVES_relaxed.owl
MONDO:0001053	biolink:NamedThing	acute infection of pinna	An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.	DOVES_relaxed.owl
MONDO:0002240	biolink:NamedThing	acute perichondritis of pinna	Acute form of perichondritis of auricle.	DOVES_relaxed.owl
MONDO:0001054	biolink:NamedThing	double pterygium		DOVES_relaxed.owl
MONDO:0005085	biolink:NamedThing	pterygium	A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder.	DOVES_relaxed.owl
MONDO:0001055	biolink:NamedThing	conjunctival pterygium		DOVES_relaxed.owl
MONDO:0001179	biolink:NamedThing	pinguecula	A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus.	DOVES_relaxed.owl
MONDO:0001056	biolink:NamedThing	gastric cancer	A primary or metastatic malignant neoplasm involving the stomach.	DOVES_relaxed.owl
MONDO:0002131	biolink:NamedThing	jaw cancer	A malignant neoplasm involving the jaw skeleton	DOVES_relaxed.owl
MONDO:0005411	biolink:NamedThing	gallbladder cancer	A malignant neoplasm involving the gall bladder	DOVES_relaxed.owl
MONDO:0005515	biolink:NamedThing	oral cavity cancer	A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas.	DOVES_relaxed.owl
MONDO:0005966	biolink:NamedThing	spleen cancer	A malignant neoplasm involving the spleen	DOVES_relaxed.owl
MONDO:0006181	biolink:NamedThing	digestive system carcinoma	A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.	DOVES_relaxed.owl
MONDO:0007576	biolink:NamedThing	esophageal cancer	A primary or metastatic malignant neoplasm involving the esophagus.	DOVES_relaxed.owl
MONDO:0009831	biolink:NamedThing	malignant pancreatic neoplasm	A malignant neoplasm involving the pancreas.	DOVES_relaxed.owl
MONDO:0021320	biolink:NamedThing	malignant tumor of floor of mouth	A cancer that involves the mouth floor.	DOVES_relaxed.owl
MONDO:0003513	biolink:NamedThing	gastric teratoma	A mature or immature teratoma that arises from the stomach.	DOVES_relaxed.owl
MONDO:0006221	biolink:NamedThing	gastric adenoma	A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps.	DOVES_relaxed.owl
MONDO:0006224	biolink:NamedThing	gastric hamartomatous polyp	A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations.	DOVES_relaxed.owl
MONDO:0001057	biolink:NamedThing	malignant gastric granular cell tumor	A metastasizing granular cell tumor that arises from the stomach.	DOVES_relaxed.owl
MONDO:0001059	biolink:NamedThing	gastric lymphoma	An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.	DOVES_relaxed.owl
MONDO:0001061	biolink:NamedThing	pylorus cancer	A malignant neoplasm involving the pylorus.	DOVES_relaxed.owl
MONDO:0001063	biolink:NamedThing	cardia cancer	A malignant neoplasm involving the cardia of stomach.	DOVES_relaxed.owl
MONDO:0003367	biolink:NamedThing	gastric leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003592	biolink:NamedThing	gastric liposarcoma	A malignant adipose tissue neoplasm of the stomach.	DOVES_relaxed.owl
MONDO:0004950	biolink:NamedThing	gastric carcinoma	A carcinoma that arises from epithelial cells of the stomach.	DOVES_relaxed.owl
MONDO:0018502	biolink:NamedThing	hereditary gastric cancer	Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome.	DOVES_relaxed.owl
MONDO:0003252	biolink:NamedThing	granular cell cancer	An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity.	DOVES_relaxed.owl
MONDO:0003350	biolink:NamedThing	granular cell leiomyosarcoma	An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes.	DOVES_relaxed.owl
MONDO:0004314	biolink:NamedThing	malignant cutaneous granular cell skin tumor		DOVES_relaxed.owl
MONDO:0001188	biolink:NamedThing	esophagus lymphoma	An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.	DOVES_relaxed.owl
MONDO:0002114	biolink:NamedThing	pancreas lymphoma	A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas.	DOVES_relaxed.owl
MONDO:0004474	biolink:NamedThing	gallbladder lymphoma	A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site.	DOVES_relaxed.owl
MONDO:0004695	biolink:NamedThing	liver lymphoma	A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma.	DOVES_relaxed.owl
MONDO:0017604	biolink:NamedThing	marginal zone lymphoma	A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood.	DOVES_relaxed.owl
MONDO:0024656	biolink:NamedThing	colorectal lymphoma	An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas.	DOVES_relaxed.owl
MONDO:0001060	biolink:NamedThing	microinvasive gastric cancer	An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present.	DOVES_relaxed.owl
MONDO:0003835	biolink:NamedThing	gastric cardia adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the cardia of stomach.	DOVES_relaxed.owl
MONDO:0005017	biolink:NamedThing	diffuse gastric adenocarcinoma	An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration.	DOVES_relaxed.owl
MONDO:0006035	biolink:NamedThing	gastric tubular adenocarcinoma	A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules.	DOVES_relaxed.owl
MONDO:0006228	biolink:NamedThing	gastric papillary adenocarcinoma	A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores.	DOVES_relaxed.owl
MONDO:0006309	biolink:NamedThing	mucinous gastric adenocarcinoma	A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools.	DOVES_relaxed.owl
MONDO:0006409	biolink:NamedThing	signet ring cell gastric adenocarcinoma	A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin.	DOVES_relaxed.owl
MONDO:0001062	biolink:NamedThing	pyloric antrum cancer	A malignant neoplasm involving the pyloric antrum.	DOVES_relaxed.owl
MONDO:0002172	biolink:NamedThing	otosalpingitis	An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube.	DOVES_relaxed.owl
MONDO:0002170	biolink:NamedThing	chronic eustachian salpingitis	Chronic form of otosalpingitis.	DOVES_relaxed.owl
MONDO:0005468	biolink:NamedThing	hypotensive disorder	Blood pressure that is abnormally low.	DOVES_relaxed.owl
MONDO:0005469	biolink:NamedThing	orthostatic hypotension	Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up.	DOVES_relaxed.owl
MONDO:0005470	biolink:NamedThing	postprandial hypotension	Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines.	DOVES_relaxed.owl
MONDO:0005471	biolink:NamedThing	neurally mediated hypotension	Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal	DOVES_relaxed.owl
MONDO:0001066	biolink:NamedThing	late yaws	Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints.	DOVES_relaxed.owl
MONDO:0006019	biolink:NamedThing	yaws	An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease.	DOVES_relaxed.owl
MONDO:0001067	biolink:NamedThing	early yaws	Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly.	DOVES_relaxed.owl
MONDO:0040925	biolink:NamedThing	latent yaws		DOVES_relaxed.owl
MONDO:0042452	biolink:NamedThing	tertiary lesion of yaws		DOVES_relaxed.owl
MONDO:0001072	biolink:NamedThing	mild pre-eclampsia	A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.	DOVES_relaxed.owl
MONDO:0001641	biolink:NamedThing	severe pre-eclampsia	Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances.	DOVES_relaxed.owl
MONDO:0012264	biolink:NamedThing	preeclampsia/eclampsia 2		DOVES_relaxed.owl
MONDO:0012265	biolink:NamedThing	preeclampsia/eclampsia 3		DOVES_relaxed.owl
MONDO:0012266	biolink:NamedThing	preeclampsia/eclampsia 4	Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene.	DOVES_relaxed.owl
MONDO:0013817	biolink:NamedThing	preeclampsia/eclampsia 5	Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene.	DOVES_relaxed.owl
MONDO:0100467	biolink:NamedThing	preeclampsia/eclampsia 1		DOVES_relaxed.owl
MONDO:0001765	biolink:NamedThing	polyneuropathy in collagen vascular disease		DOVES_relaxed.owl
MONDO:0001904	biolink:NamedThing	polyneuropathy due to drug		DOVES_relaxed.owl
MONDO:0001957	biolink:NamedThing	critical illness polyneuropathy		DOVES_relaxed.owl
MONDO:0003334	biolink:NamedThing	demyelinating polyneuropathy	Polyneuropathy that is characterized by demyelination of axons.	DOVES_relaxed.owl
MONDO:0003335	biolink:NamedThing	chronic polyneuropathy	Polyneuropathy that is persistent or long-standing in nature.	DOVES_relaxed.owl
MONDO:0006645	biolink:NamedThing	alcoholic polyneuropathy	Any disease affecting more than one nerve.	DOVES_relaxed.owl
MONDO:0006888	biolink:NamedThing	paraneoplastic polyneuropathy	A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure.	DOVES_relaxed.owl
MONDO:0006915	biolink:NamedThing	polyradiculoneuropathy	Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.	DOVES_relaxed.owl
MONDO:0001076	biolink:NamedThing	glucose intolerance	The inability to regulate blood glucose levels resulting in hyperglycemia.	DOVES_relaxed.owl
MONDO:0002177	biolink:NamedThing	hyperinsulinism	Abnormally high levels of insulin in the blood.	DOVES_relaxed.owl
MONDO:0002909	biolink:NamedThing	hyperglycemia	Abnormally high level of glucose in the blood.	DOVES_relaxed.owl
MONDO:0004946	biolink:NamedThing	hypoglycemia	Abnormally low level of glucose in the blood.	DOVES_relaxed.owl
MONDO:0006920	biolink:NamedThing	prediabetes syndrome	A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes.	DOVES_relaxed.owl
MONDO:0014221	biolink:NamedThing	triosephosphate isomerase deficiency	Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.	DOVES_relaxed.owl
MONDO:0019225	biolink:NamedThing	disorder of gluconeogenesis	An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis.	DOVES_relaxed.owl
MONDO:0023263	biolink:NamedThing	glyceraldehyde-3-phosphate dehydrogenase deficiency		DOVES_relaxed.owl
MONDO:0001078	biolink:NamedThing	tropical sprue	A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common.	DOVES_relaxed.owl
MONDO:0005673	biolink:NamedThing	blind loop syndrome	A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis.	DOVES_relaxed.owl
MONDO:0015179	biolink:NamedThing	intestinal disease due to vitamin absorption anomaly		DOVES_relaxed.owl
MONDO:0015180	biolink:NamedThing	intestinal disease due to fat malabsorption		DOVES_relaxed.owl
MONDO:0019787	biolink:NamedThing	autoimmune enteropathy	Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.	DOVES_relaxed.owl
MONDO:0100345	biolink:NamedThing	lactose intolerance		DOVES_relaxed.owl
MONDO:0001079	biolink:NamedThing	pancreatic steatorrhea		DOVES_relaxed.owl
MONDO:0001683	biolink:NamedThing	pancreatic mucinous ductal ectasia		DOVES_relaxed.owl
MONDO:0001684	biolink:NamedThing	exocrine pancreatic insufficiency	Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders.	DOVES_relaxed.owl
MONDO:0001933	biolink:NamedThing	endocrine pancreas disorder	A disease involving the endocrine pancreas.	DOVES_relaxed.owl
MONDO:0017589	biolink:NamedThing	follicular cholangitis and pancreatitis	Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts.	DOVES_relaxed.owl
MONDO:0017783	biolink:NamedThing	congenital pancreatic cyst		DOVES_relaxed.owl
MONDO:0001080	biolink:NamedThing	acute gonococcal cervicitis	Acute form of gonococcal cervicitis.	DOVES_relaxed.owl
MONDO:0002029	biolink:NamedThing	chronic gonorrhea of cervix	Chronic form of gonococcal cervicitis.	DOVES_relaxed.owl
MONDO:0002030	biolink:NamedThing	chronic cervicitis	Chronic inflammation of the cervix.	DOVES_relaxed.owl
MONDO:0030708	biolink:NamedThing	Trichomonas cervicitis	An cervicitis (disease) caused by infection with Trichomonas vaginalis.	DOVES_relaxed.owl
MONDO:0009975	biolink:NamedThing	reticulum cell sarcoma	An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes.	DOVES_relaxed.owl
MONDO:0004528	biolink:NamedThing	lymph node palisaded myofibroblastoma	A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading.	DOVES_relaxed.owl
MONDO:0021443	biolink:NamedThing	benign neoplasm of lymph node	A benign neoplasm that involves the lymph node.	DOVES_relaxed.owl
MONDO:0006510	biolink:NamedThing	renal tubular transport disease	Genetic defects in the selective or non-selective transport functions of the kidney tubules.	DOVES_relaxed.owl
MONDO:0009550	biolink:NamedThing	renal hypomagnesemia 3	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.	DOVES_relaxed.owl
MONDO:0015612	biolink:NamedThing	Dent disease	Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.	DOVES_relaxed.owl
MONDO:0018638	biolink:NamedThing	pseudohypoaldosteronism	An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate.	DOVES_relaxed.owl
MONDO:0021568	biolink:NamedThing	renal tubule disorder	A disease that involves the renal tubule.	DOVES_relaxed.owl
MONDO:0003011	biolink:NamedThing	mucinous tubular and spindle renal cell carcinoma	A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain.	DOVES_relaxed.owl
MONDO:0001085	biolink:NamedThing	interstitial nephritis	Inflammation of the renal tubules and supporting tissues of the kidney.	DOVES_relaxed.owl
MONDO:0006938	biolink:NamedThing	pyelitis	Inflammation of the renal pelvis.	DOVES_relaxed.owl
MONDO:0001087	biolink:NamedThing	schizotypal personality disorder	A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance.	DOVES_relaxed.owl
MONDO:0001156	biolink:NamedThing	borderline personality disorder	A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior.	DOVES_relaxed.owl
MONDO:0001157	biolink:NamedThing	dependent personality disorder	A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life.	DOVES_relaxed.owl
MONDO:0001158	biolink:NamedThing	obsessive-compulsive personality disorder	A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics.	DOVES_relaxed.owl
MONDO:0001161	biolink:NamedThing	schizoid personality disorder	A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness.	DOVES_relaxed.owl
MONDO:0001163	biolink:NamedThing	paranoid personality disorder	A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted.	DOVES_relaxed.owl
MONDO:0001164	biolink:NamedThing	antisocial personality disorder	A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)	DOVES_relaxed.owl
MONDO:0002027	biolink:NamedThing	avoidant personality disorder	A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection.	DOVES_relaxed.owl
MONDO:0002411	biolink:NamedThing	narcissistic personality disorder	A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others.	DOVES_relaxed.owl
MONDO:0002613	biolink:NamedThing	histrionic personality disorder	A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior.	DOVES_relaxed.owl
MONDO:0006652	biolink:NamedThing	anterolateral myocardial infarction	Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction.	DOVES_relaxed.owl
MONDO:0001091	biolink:NamedThing	lipoma of colon	A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction.	DOVES_relaxed.owl
MONDO:0002278	biolink:NamedThing	benign colon neoplasm	A non-metastasizing neoplasm arising from the wall of the colon.	DOVES_relaxed.owl
MONDO:0001092	biolink:NamedThing	colon leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0003884	biolink:NamedThing	lipoma of the rectum	A benign adipose tissue neoplasm of the rectum.	DOVES_relaxed.owl
MONDO:0004125	biolink:NamedThing	rectum leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0002013	biolink:NamedThing	lymphangioma	A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation.	DOVES_relaxed.owl
MONDO:0002262	biolink:NamedThing	capillary lymphangioma	A lymphangioma that involves the capillary.	DOVES_relaxed.owl
MONDO:0006841	biolink:NamedThing	lymphangioendothelioma	A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques.	DOVES_relaxed.owl
MONDO:0015408	biolink:NamedThing	diffuse lymphatic malformation	A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality.	DOVES_relaxed.owl
MONDO:0018720	biolink:NamedThing	common cystic lymphatic malformation		DOVES_relaxed.owl
MONDO:0018735	biolink:NamedThing	multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome	Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas.	DOVES_relaxed.owl
MONDO:0024673	biolink:NamedThing	skin lymphangioma	A lymphangioma arising from the skin.	DOVES_relaxed.owl
MONDO:0001094	biolink:NamedThing	residual stage of open angle glaucoma		DOVES_relaxed.owl
MONDO:0006837	biolink:NamedThing	low tension glaucoma	A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure.	DOVES_relaxed.owl
MONDO:0008328	biolink:NamedThing	glaucoma 1, open angle, P		DOVES_relaxed.owl
MONDO:0013134	biolink:NamedThing	glaucoma 1, open angle, O	Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene.	DOVES_relaxed.owl
MONDO:0020367	biolink:NamedThing	juvenile open angle glaucoma	Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.	DOVES_relaxed.owl
MONDO:0003098	biolink:NamedThing	mediastinal neural neoplasm	A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma.	DOVES_relaxed.owl
MONDO:0001426	biolink:NamedThing	mediastinum neurofibroma	A neurofibroma that arises from the posterior mediastinum. Excision is usually curative.	DOVES_relaxed.owl
MONDO:0003097	biolink:NamedThing	childhood mediastinal neurogenic neoplasm		DOVES_relaxed.owl
MONDO:0004398	biolink:NamedThing	mediastinal schwannoma	A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative.	DOVES_relaxed.owl
MONDO:0021577	biolink:NamedThing	malignant mediastinal neural neoplasm		DOVES_relaxed.owl
MONDO:0005843	biolink:NamedThing	mediastinal cancer	A malignant neoplasm involving the mediastinum	DOVES_relaxed.owl
MONDO:0002972	biolink:NamedThing	posterior mediastinum cancer	A malignant neoplasm involving the posterior mediastinum.	DOVES_relaxed.owl
MONDO:0037743	biolink:NamedThing	mediastinal soft tissue cancer	A malignant neoplasm that arises from the soft tissues of the mediastinum.	DOVES_relaxed.owl
MONDO:0002433	biolink:NamedThing	malignant cranial nerve neoplasm	Abnormal malignant growth of the cells that comprise the cranial nerve.	DOVES_relaxed.owl
MONDO:0003303	biolink:NamedThing	neurofibroma of gallbladder	A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells.	DOVES_relaxed.owl
MONDO:0004477	biolink:NamedThing	adrenal gland ganglioneuroblastoma	A ganglioneuroblastoma arising from the adrenal gland.	DOVES_relaxed.owl
MONDO:0004752	biolink:NamedThing	neurofibroma of the heart	A rare neurofibroma that affects the heart.	DOVES_relaxed.owl
MONDO:0016751	biolink:NamedThing	malignant perineurioma	A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate.	DOVES_relaxed.owl
MONDO:0017827	biolink:NamedThing	malignant peripheral nerve sheath tumor	Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.	DOVES_relaxed.owl
MONDO:0035136	biolink:NamedThing	isolated melanotic schwannoma		DOVES_relaxed.owl
MONDO:0037738	biolink:NamedThing	cauda equina cancer	A cancer that involves the cauda equina.	DOVES_relaxed.owl
MONDO:0001096	biolink:NamedThing	mediastinum ganglioneuroblastoma	A ganglioneuroblastoma arising from the mediastinum.	DOVES_relaxed.owl
MONDO:0003327	biolink:NamedThing	peripheral ganglioneuroblastoma	A ganglioneuroblastoma arising from the peripheral nervous system.	DOVES_relaxed.owl
MONDO:0001098	biolink:NamedThing	separation anxiety disorder	An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning.	DOVES_relaxed.owl
MONDO:0001942	biolink:NamedThing	generalized anxiety disorder	An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months.	DOVES_relaxed.owl
MONDO:0003699	biolink:NamedThing	phobic disorder	An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable.	DOVES_relaxed.owl
MONDO:0005379	biolink:NamedThing	neurotic disorder	A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears.	DOVES_relaxed.owl
MONDO:0005383	biolink:NamedThing	panic disorder	An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia.	DOVES_relaxed.owl
MONDO:0005671	biolink:NamedThing	Blastocystis infectious disease	Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue.	DOVES_relaxed.owl
MONDO:0015474	biolink:NamedThing	cryptosporidiosis	Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea.	DOVES_relaxed.owl
MONDO:0001104	biolink:NamedThing	toxic diffuse goiter		DOVES_relaxed.owl
MONDO:0004425	biolink:NamedThing	hyperthyroidism	Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor.	DOVES_relaxed.owl
MONDO:0001252	biolink:NamedThing	Plummer disease	Nodular enlargement of the thyroid gland associated with hyperthyroidism.	DOVES_relaxed.owl
MONDO:0006996	biolink:NamedThing	thyroid crisis	Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone.	DOVES_relaxed.owl
MONDO:0007784	biolink:NamedThing	selective pituitary resistance to thyroid hormone	Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema.	DOVES_relaxed.owl
MONDO:0009043	biolink:NamedThing	generalized resistance to thyroid hormone	A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues.	DOVES_relaxed.owl
MONDO:0001105	biolink:NamedThing	renal hypertension	Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries.	DOVES_relaxed.owl
MONDO:0001200	biolink:NamedThing	secondary hypertension	High blood pressure caused by an underlying medical condition.	DOVES_relaxed.owl
MONDO:0001646	biolink:NamedThing	benign secondary hypertension	Mild to moderate high blood pressure that is caused by an underlying medical condition.	DOVES_relaxed.owl
MONDO:0005240	biolink:NamedThing	kidney disorder	A disease involving the kidney.	DOVES_relaxed.owl
MONDO:0001343	biolink:NamedThing	impaired renal function disease	Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction.	DOVES_relaxed.owl
MONDO:0001567	biolink:NamedThing	nephrocalcinosis	Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys.	DOVES_relaxed.owl
MONDO:0002004	biolink:NamedThing	atheroembolism of kidney	A cholesterol embolism that involves the kidney.	DOVES_relaxed.owl
MONDO:0002331	biolink:NamedThing	nephrosis	Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.	DOVES_relaxed.owl
MONDO:0002473	biolink:NamedThing	cystic kidney disease	A congenital or acquired kidney disorder characterized by the presence of renal cysts.	DOVES_relaxed.owl
MONDO:0002476	biolink:NamedThing	anuria	Absence of urine output.	DOVES_relaxed.owl
MONDO:0002674	biolink:NamedThing	stricture or kinking of ureter		DOVES_relaxed.owl
MONDO:0003634	biolink:NamedThing	proteinuria	The presence of abnormal amounts of protein in the urine.	DOVES_relaxed.owl
MONDO:0004369	biolink:NamedThing	renal infectious disease		DOVES_relaxed.owl
MONDO:0004782	biolink:NamedThing	diabetes insipidus	A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related.	DOVES_relaxed.owl
MONDO:0004838	biolink:NamedThing	orthostatic proteinuria		DOVES_relaxed.owl
MONDO:0004841	biolink:NamedThing	kidney hypertrophy	Global enlargement of the renal parenchyma in one or both kidneys.	DOVES_relaxed.owl
MONDO:0005300	biolink:NamedThing	chronic kidney disease	Impairment of the renal function secondary to chronic kidney damage persisting for three or more months.	DOVES_relaxed.owl
MONDO:0005510	biolink:NamedThing	hydronephrosis	Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria.	DOVES_relaxed.owl
MONDO:0006820	biolink:NamedThing	kidney cortex necrosis	Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity.	DOVES_relaxed.owl
MONDO:0006821	biolink:NamedThing	kidney papillary necrosis	A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure.	DOVES_relaxed.owl
MONDO:0006944	biolink:NamedThing	renal aminoaciduria	A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved.	DOVES_relaxed.owl
MONDO:0008171	biolink:NamedThing	nephrolithiasis	The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins.	DOVES_relaxed.owl
MONDO:0009724	biolink:NamedThing	nail-patella-like renal disease	A severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.	DOVES_relaxed.owl
MONDO:0017919	biolink:NamedThing	exstrophy-epispadias complex	A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.	DOVES_relaxed.owl
MONDO:0018559	biolink:NamedThing	fetal lower urinary tract obstruction		DOVES_relaxed.owl
MONDO:0019105	biolink:NamedThing	renal nutcracker syndrome	A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.	DOVES_relaxed.owl
MONDO:0019720	biolink:NamedThing	non-syndromic renal or urinary tract malformation	A renal or urinary tract malformation that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0021163	biolink:NamedThing	kidney neoplasm	A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma.	DOVES_relaxed.owl
MONDO:0021750	biolink:NamedThing	pyonephrosis	Pus within the collecting system of the kidney.	DOVES_relaxed.owl
MONDO:0023551	biolink:NamedThing	C1q nephropathy	C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome.	DOVES_relaxed.owl
MONDO:0034110	biolink:NamedThing	atypical Fanconi syndrome-neonatal hyperinsulinism syndrome		DOVES_relaxed.owl
MONDO:0035763	biolink:NamedThing	idiopathic non-lupus full-house nephropathy		DOVES_relaxed.owl
MONDO:0043112	biolink:NamedThing	lachiewicz sibley syndrome		DOVES_relaxed.owl
MONDO:0043549	biolink:NamedThing	crush syndrome	A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle.	DOVES_relaxed.owl
MONDO:0056796	biolink:NamedThing	obstructive nephropathy	Renal damage and impaired renal function secondary to urinary tract obstruction.	DOVES_relaxed.owl
MONDO:0100110	biolink:NamedThing	adenovirus renal infection		DOVES_relaxed.owl
MONDO:0800337	biolink:NamedThing	acute tubulointerstitial nephritis		DOVES_relaxed.owl
MONDO:0850089	biolink:NamedThing	Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation		DOVES_relaxed.owl
MONDO:0001108	biolink:NamedThing	broad ligament malignant neoplasm	A malignant neoplasm involving the broad ligament of uterus.	DOVES_relaxed.owl
MONDO:0001352	biolink:NamedThing	round ligament malignant neoplasm	A malignant neoplasm involving the round ligament of uterus.	DOVES_relaxed.owl
MONDO:0002403	biolink:NamedThing	synovium cancer	A cancer that involves the layer of synovial tissue.	DOVES_relaxed.owl
MONDO:0003612	biolink:NamedThing	uterine ligament cancer	A primary or metastatic malignant neoplasm that affects the uterine ligament.	DOVES_relaxed.owl
MONDO:0001351	biolink:NamedThing	uterine adnexa cancer		DOVES_relaxed.owl
MONDO:0045043	biolink:NamedThing	disorder of uterine broad ligament	A disease or disorder that involves the broad ligament of uterus.	DOVES_relaxed.owl
MONDO:0009813	biolink:NamedThing	chronic recurrent multifocal osteomyelitis	Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.	DOVES_relaxed.owl
MONDO:0003452	biolink:NamedThing	cochlear disorder	Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph).	DOVES_relaxed.owl
MONDO:0001110	biolink:NamedThing	chronic pyelonephritis	Persistent pyelonephritis.	DOVES_relaxed.owl
MONDO:0001184	biolink:NamedThing	chronic rapidly progressive glomerulonephritis	Chronic form of rapidly progressive glomerulonephritis.	DOVES_relaxed.owl
MONDO:0004375	biolink:NamedThing	end stage renal failure	Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min.	DOVES_relaxed.owl
MONDO:0024327	biolink:NamedThing	chronic renal failure syndrome	Impairment of the renal function due to chronic kidney damage.	DOVES_relaxed.owl
MONDO:0006939	biolink:NamedThing	pyelonephritis	An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion.	DOVES_relaxed.owl
MONDO:0001113	biolink:NamedThing	Fiedler's myocarditis		DOVES_relaxed.owl
MONDO:0004496	biolink:NamedThing	myocarditis	Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak.	DOVES_relaxed.owl
MONDO:0001114	biolink:NamedThing	bacterial myocarditis	Myocarditis that is caused by an infection with a bacterial agent.	DOVES_relaxed.owl
MONDO:0004485	biolink:NamedThing	interstitial myocarditis	Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present.	DOVES_relaxed.owl
MONDO:0004582	biolink:NamedThing	rheumatic myocarditis	Inflammation of the myocardium in acute rheumatic heart disease.	DOVES_relaxed.owl
MONDO:0022519	biolink:NamedThing	autoimmune myocarditis	Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended.	DOVES_relaxed.owl
MONDO:0023161	biolink:NamedThing	viral myocarditis	Myocarditis that is caused by an infection with a viral agent.	DOVES_relaxed.owl
MONDO:0001238	biolink:NamedThing	polycythemia neonatorum	A condition in which the red blood cell level is greater than established reference ranges in a newborn.	DOVES_relaxed.owl
MONDO:0002438	biolink:NamedThing	acquired polycythemia	An instance of polycythemia that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0004563	biolink:NamedThing	physiological polycythemia	Polycythemia that is not pathologic.	DOVES_relaxed.owl
MONDO:0009891	biolink:NamedThing	acquired polycythemia vera	Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.	DOVES_relaxed.owl
MONDO:0020115	biolink:NamedThing	secondary polycythemia	Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia).	DOVES_relaxed.owl
MONDO:0001116	biolink:NamedThing	mesenteric lymphadenitis	Inflammation of the mesenteric lymph nodes.	DOVES_relaxed.owl
MONDO:0003067	biolink:NamedThing	cervical lymphadenitis	Inflammation of the cervical lymph nodes.	DOVES_relaxed.owl
MONDO:0003068	biolink:NamedThing	postauricular lymphadenitis	Inflammation of the postauricular lymph nodes.	DOVES_relaxed.owl
MONDO:0003069	biolink:NamedThing	suppurative lymphadenitis	A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria.	DOVES_relaxed.owl
MONDO:0003070	biolink:NamedThing	axillary lymphadenitis	An infection of the lymph nodes in the axilla.	DOVES_relaxed.owl
MONDO:0006969	biolink:NamedThing	sialadenitis	Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common.	DOVES_relaxed.owl
MONDO:0012727	biolink:NamedThing	mucocutaneous lymph node syndrome	Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.	DOVES_relaxed.owl
MONDO:0018864	biolink:NamedThing	Kikuchi-Fujimoto disease	Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.	DOVES_relaxed.owl
MONDO:0001117	biolink:NamedThing	methemoglobinemia	An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood.	DOVES_relaxed.owl
MONDO:0044348	biolink:NamedThing	hemoglobinopathy		DOVES_relaxed.owl
MONDO:0006988	biolink:NamedThing	sulfhemoglobinemia	A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)	DOVES_relaxed.owl
MONDO:0044349	biolink:NamedThing	acquired hemoglobinopathy	An instance of hemoglobinopathy that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0001119	biolink:NamedThing	premature menopause	Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive.	DOVES_relaxed.owl
MONDO:0001889	biolink:NamedThing	ovarian dysfunction	The inability of the ovaries to function.	DOVES_relaxed.owl
MONDO:0005387	biolink:NamedThing	primary ovarian failure	Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries.	DOVES_relaxed.owl
MONDO:0019851	biolink:NamedThing	acquired primary ovarian failure	An instance of primary ovarian failure that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0044338	biolink:NamedThing	autoimmune primary ovarian failure	An autoimmune form of primary ovarian failure.	DOVES_relaxed.owl
MONDO:0001120	biolink:NamedThing	chronic frontal sinusitis	Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.	DOVES_relaxed.owl
MONDO:0001121	biolink:NamedThing	frontal sinusitis	An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus.	DOVES_relaxed.owl
MONDO:0006031	biolink:NamedThing	chronic rhinosinusitis	Chronic form of sinusitis.	DOVES_relaxed.owl
MONDO:0001122	biolink:NamedThing	chronic maxillary sinusitis	Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.	DOVES_relaxed.owl
MONDO:0001123	biolink:NamedThing	chronic sphenoidal sinusitis	Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.	DOVES_relaxed.owl
MONDO:0004757	biolink:NamedThing	chronic ethmoidal sinusitis	Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.	DOVES_relaxed.owl
MONDO:0001126	biolink:NamedThing	gastric ulcer	An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall.	DOVES_relaxed.owl
MONDO:0001155	biolink:NamedThing	gastrojejunal ulcer		DOVES_relaxed.owl
MONDO:0004242	biolink:NamedThing	active peptic ulcer disease		DOVES_relaxed.owl
MONDO:0004260	biolink:NamedThing	peptic ulcer perforation	Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity.	DOVES_relaxed.owl
MONDO:0005412	biolink:NamedThing	duodenal ulcer	An ulcer in the duodenal wall.	DOVES_relaxed.owl
MONDO:0006896	biolink:NamedThing	peptic esophagitis	Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum.	DOVES_relaxed.owl
MONDO:0001318	biolink:NamedThing	functional gastric disease		DOVES_relaxed.owl
MONDO:0001427	biolink:NamedThing	Dieulafoy lesion	Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly.	DOVES_relaxed.owl
MONDO:0001428	biolink:NamedThing	pylorospasm		DOVES_relaxed.owl
MONDO:0001469	biolink:NamedThing	cascade stomach		DOVES_relaxed.owl
MONDO:0001561	biolink:NamedThing	pyloric stenosis	Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.	DOVES_relaxed.owl
MONDO:0002569	biolink:NamedThing	gastric dilatation	Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation.	DOVES_relaxed.owl
MONDO:0002839	biolink:NamedThing	leather-bottle stomach	A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas.	DOVES_relaxed.owl
MONDO:0002976	biolink:NamedThing	stomach diverticulosis	A pathological condition characterized by the presence of a number of gastric diverticula in the stomach.	DOVES_relaxed.owl
MONDO:0007721	biolink:NamedThing	hiatus hernia	Herniation of the upper part of the stomach through the diaphragm.	DOVES_relaxed.owl
MONDO:0008277	biolink:NamedThing	stomach polyp	A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).	DOVES_relaxed.owl
MONDO:0024310	biolink:NamedThing	angiodysplasia of stomach	A angiodysplasia that involves the stomach.	DOVES_relaxed.owl
MONDO:0043465	biolink:NamedThing	achlorhydria	Absence of hydrochloric acid in the gastric juice.	DOVES_relaxed.owl
MONDO:0001128	biolink:NamedThing	nasal cavity cancer	A malignant neoplasm involving the nasal cavity	DOVES_relaxed.owl
MONDO:0001407	biolink:NamedThing	tracheal cancer	A malignant neoplasm involving the trachea	DOVES_relaxed.owl
MONDO:0008903	biolink:NamedThing	lung cancer	A malignant neoplasm involving the lung.	DOVES_relaxed.owl
MONDO:0018761	biolink:NamedThing	SMARCA4-deficient sarcoma of thorax		DOVES_relaxed.owl
MONDO:0002236	biolink:NamedThing	ocular cancer	A benign or malignant neoplasm affecting the structures of the eye.	DOVES_relaxed.owl
MONDO:0003277	biolink:NamedThing	malignant ear neoplasm	A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear.	DOVES_relaxed.owl
MONDO:0024649	biolink:NamedThing	optic tract astrocytoma	An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.	DOVES_relaxed.owl
MONDO:0004756	biolink:NamedThing	nasal cavity neoplasm	A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	DOVES_relaxed.owl
MONDO:0003065	biolink:NamedThing	nasal cavity inverting papilloma	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas.	DOVES_relaxed.owl
MONDO:0002038	biolink:NamedThing	head and neck carcinoma	A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.	DOVES_relaxed.owl
MONDO:0022454	biolink:NamedThing	angiosarcoma of the scalp	Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy.	DOVES_relaxed.owl
MONDO:0001129	biolink:NamedThing	nasal cavity olfactory neuroblastoma	An olfactory neuroblastoma arising in the nasal cavity.	DOVES_relaxed.owl
MONDO:0003212	biolink:NamedThing	nasal cavity carcinoma	A carcinoma that arises from epithelial cells of the nasal cavity	DOVES_relaxed.owl
MONDO:0001134	biolink:NamedThing	essential hypertension	Hypertension that presents without an identifiable cause.	DOVES_relaxed.owl
MONDO:0001151	biolink:NamedThing	benign essential hypertension	A condition of mild to moderate high blood pressure that has no identifiable cause.	DOVES_relaxed.owl
MONDO:0005044	biolink:NamedThing	hypertensive disorder	Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more.	DOVES_relaxed.owl
MONDO:0005149	biolink:NamedThing	pulmonary hypertension	Increased pressure within the pulmonary circulation due to lung or heart disorder.	DOVES_relaxed.owl
MONDO:0005430	biolink:NamedThing	early onset hypertension	A form of hypertension with early onset relative to normal range for a given population.	DOVES_relaxed.owl
MONDO:0005585	biolink:NamedThing	chemotherapy-induced hypertension	A form of hypertension that occurs as a direct result of chemotherapy treatment	DOVES_relaxed.owl
MONDO:0023530	biolink:NamedThing	kallikrein hypertension		DOVES_relaxed.owl
MONDO:0100078	biolink:NamedThing	resistant hypertension	A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatement with 3 or more antihypertensive drugs including diuretics are ineffective.	DOVES_relaxed.owl
MONDO:0001136	biolink:NamedThing	chylocele of tunica vaginalis		DOVES_relaxed.owl
MONDO:0001415	biolink:NamedThing	atrophy of testis	Loss of testicular volume.	DOVES_relaxed.owl
MONDO:0003279	biolink:NamedThing	testicular infarct	Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis.	DOVES_relaxed.owl
MONDO:0005437	biolink:NamedThing	testicular dysgenesis syndrome	A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis.	DOVES_relaxed.owl
MONDO:0001141	biolink:NamedThing	middle ear cholesterol granuloma	As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response.	DOVES_relaxed.owl
MONDO:0001212	biolink:NamedThing	non-suppurative otitis media	A otitis media which involves transudation of fluid in the middle ear without pus formation.	DOVES_relaxed.owl
MONDO:0021204	biolink:NamedThing	chronic otitis media	Chronic form of otitis media (disease).	DOVES_relaxed.owl
MONDO:0024330	biolink:NamedThing	infectious otitis media	Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space.	DOVES_relaxed.owl
MONDO:0024616	biolink:NamedThing	tympanitis	An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane.	DOVES_relaxed.owl
MONDO:0001143	biolink:NamedThing	paralytic strabismus		DOVES_relaxed.owl
MONDO:0003432	biolink:NamedThing	strabismus	Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.	DOVES_relaxed.owl
MONDO:0001286	biolink:NamedThing	exotropia	A form of strabismus in which the eyes are deviated laterally.	DOVES_relaxed.owl
MONDO:0001527	biolink:NamedThing	conjugate gaze palsy		DOVES_relaxed.owl
MONDO:0002152	biolink:NamedThing	intermittent squint		DOVES_relaxed.owl
MONDO:0003417	biolink:NamedThing	internuclear ophthalmoplegia		DOVES_relaxed.owl
MONDO:0004753	biolink:NamedThing	mechanical strabismus		DOVES_relaxed.owl
MONDO:0004893	biolink:NamedThing	hypertropia	Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye.	DOVES_relaxed.owl
MONDO:0004894	biolink:NamedThing	cyclotropia		DOVES_relaxed.owl
MONDO:0004897	biolink:NamedThing	hypotropia	Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye.	DOVES_relaxed.owl
MONDO:0004899	biolink:NamedThing	monofixation syndrome		DOVES_relaxed.owl
MONDO:0001144	biolink:NamedThing	partial third-nerve palsy		DOVES_relaxed.owl
MONDO:0001309	biolink:NamedThing	oculomotor nerve paralysis	Paralysis of the oculomotor nerve.	DOVES_relaxed.owl
MONDO:0001145	biolink:NamedThing	total third-nerve palsy		DOVES_relaxed.owl
MONDO:0001211	biolink:NamedThing	total internal ophthalmoplegia		DOVES_relaxed.owl
MONDO:0015083	biolink:NamedThing	nuclear oculomotor paralysis		DOVES_relaxed.owl
MONDO:0020257	biolink:NamedThing	supranuclear oculomotor palsy	Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement.	DOVES_relaxed.owl
MONDO:0001146	biolink:NamedThing	fourth cranial nerve palsy	A cranial nerve palsy that involves the trochlear nerve.	DOVES_relaxed.owl
MONDO:0002782	biolink:NamedThing	cranial nerve palsy	Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.	DOVES_relaxed.owl
MONDO:0001819	biolink:NamedThing	multiple cranial nerve palsy		DOVES_relaxed.owl
MONDO:0002781	biolink:NamedThing	glossopharyngeal nerve paralysis	Paralysis of the glossopharyngeal nerve.	DOVES_relaxed.owl
MONDO:0005665	biolink:NamedThing	Bell's palsy	Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur.	DOVES_relaxed.owl
MONDO:0007033	biolink:NamedThing	abducens nerve palsy	Paralysis of the abducens nerve.	DOVES_relaxed.owl
MONDO:0002642	biolink:NamedThing	trochlear nerve neoplasm	A neoplasm involving a trochlear nerve.	DOVES_relaxed.owl
MONDO:0001148	biolink:NamedThing	iliac vein thrombophlebitis	A thrombophlebitis that involves the iliac vein.	DOVES_relaxed.owl
MONDO:0002800	biolink:NamedThing	thrombophlebitis	Inflammation of the veins associated with the presence of a thrombus.	DOVES_relaxed.owl
MONDO:0001481	biolink:NamedThing	femoral vein thrombophlebitis	A thrombophlebitis that involves the femoral vein.	DOVES_relaxed.owl
MONDO:0001954	biolink:NamedThing	thrombophlebitis migrans	A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations.	DOVES_relaxed.owl
MONDO:0016054	biolink:NamedThing	cerebral malformation		DOVES_relaxed.owl
MONDO:0008811	biolink:NamedThing	XK aprosencephaly	XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.	DOVES_relaxed.owl
MONDO:0012462	biolink:NamedThing	autosomal recessive frontotemporal pachygyria		DOVES_relaxed.owl
MONDO:0013583	biolink:NamedThing	occipital pachygyria and polymicrogyria		DOVES_relaxed.owl
MONDO:0015660	biolink:NamedThing	sporadic fetal brain disruption sequence	Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.	DOVES_relaxed.owl
MONDO:0016608	biolink:NamedThing	megalencephaly	A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).	DOVES_relaxed.owl
MONDO:0017090	biolink:NamedThing	midline cerebral malformation		DOVES_relaxed.owl
MONDO:0017094	biolink:NamedThing	cerebral cortical dysplasia	Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay.	DOVES_relaxed.owl
MONDO:0017103	biolink:NamedThing	encephaloclastic disorder		DOVES_relaxed.owl
MONDO:0017868	biolink:NamedThing	diencephalic-mesencephalic junction dysplasia	Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.	DOVES_relaxed.owl
MONDO:0018430	biolink:NamedThing	partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome	A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.	DOVES_relaxed.owl
MONDO:0019484	biolink:NamedThing	hypothalamic hamartomas with gelastic seizures	A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.	DOVES_relaxed.owl
MONDO:0020492	biolink:NamedThing	hemimegalencephaly	Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy.	DOVES_relaxed.owl
MONDO:0035449	biolink:NamedThing	atelencephaly		DOVES_relaxed.owl
MONDO:0035450	biolink:NamedThing	aprosencephaly		DOVES_relaxed.owl
MONDO:0700092	biolink:NamedThing	neurodevelopmental disorder	A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.	DOVES_relaxed.owl
MONDO:0014224	biolink:NamedThing	developmental delay with autism spectrum disorder and gait instability	Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.	DOVES_relaxed.owl
MONDO:0014805	biolink:NamedThing	Hao-Fountain syndrome	A neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging. The cause of the disease is a mutation in the USP7 gene.	DOVES_relaxed.owl
MONDO:0016016	biolink:NamedThing	toluene embryopathy	Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.	DOVES_relaxed.owl
MONDO:0016210	biolink:NamedThing	alternating hemiplegia		DOVES_relaxed.owl
MONDO:0017746	biolink:NamedThing	atypical Rett syndrome	A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT).	DOVES_relaxed.owl
MONDO:0032566	biolink:NamedThing	squalene synthase deficiency		DOVES_relaxed.owl
MONDO:0035774	biolink:NamedThing	NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance	A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.	DOVES_relaxed.owl
MONDO:0044318	biolink:NamedThing	intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).	DOVES_relaxed.owl
MONDO:0044326	biolink:NamedThing	developmental delay and seizures with or without movement abnormalities	DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}).	DOVES_relaxed.owl
MONDO:0100485	biolink:NamedThing	KCNH1 associated disorder	Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.	DOVES_relaxed.owl
MONDO:0100503	biolink:NamedThing	DPH5-related diphthamide-deficiency syndrome	A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene, which is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages.	DOVES_relaxed.owl
MONDO:0001152	biolink:NamedThing	amnestic disorder	Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories.	DOVES_relaxed.owl
MONDO:0001627	biolink:NamedThing	dementia	Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders.	DOVES_relaxed.owl
MONDO:0045057	biolink:NamedThing	delirium	A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)	DOVES_relaxed.owl
MONDO:0001153	biolink:NamedThing	gender dysphoria	A marked difference between the individual's expressed/experienced gender and the gender others would assign him or her, and it must continue for at least six months. (from DSM-5)	DOVES_relaxed.owl
MONDO:0001693	biolink:NamedThing	ego-dystonic sexual orientation	A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation.	DOVES_relaxed.owl
MONDO:0001159	biolink:NamedThing	multiple personality disorder	A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition.	DOVES_relaxed.owl
MONDO:0001185	biolink:NamedThing	dissociative amnesia	A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition.	DOVES_relaxed.owl
MONDO:0001186	biolink:NamedThing	depersonalization disorder	A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality.	DOVES_relaxed.owl
MONDO:0001167	biolink:NamedThing	spastic diplegia	A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy.	DOVES_relaxed.owl
MONDO:0001168	biolink:NamedThing	spastic hemiplegia	A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body.	DOVES_relaxed.owl
MONDO:0001169	biolink:NamedThing	spastic monoplegia	A spastic cerebral palsy that affects only one limb.	DOVES_relaxed.owl
MONDO:0001170	biolink:NamedThing	hemiplegia	Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body.	DOVES_relaxed.owl
MONDO:0001590	biolink:NamedThing	quadriplegia	Paralysis of all four limbs.	DOVES_relaxed.owl
MONDO:0001835	biolink:NamedThing	facial paralysis	Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis.	DOVES_relaxed.owl
MONDO:0003425	biolink:NamedThing	ophthalmoplegia	Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis.	DOVES_relaxed.owl
MONDO:0003757	biolink:NamedThing	paraplegia	Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord.	DOVES_relaxed.owl
MONDO:0023054	biolink:NamedThing	klumpke's paralysis	Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months.	DOVES_relaxed.owl
MONDO:0043775	biolink:NamedThing	respiratory paralysis	Complete or severe weakness of the muscles of respiration. This condition may be associated with motor neuron diseases; peripheral nerve diseases; neuromuscular junction diseases; spinal cord diseases; injury to the phrenic nerve; and other disorders.	DOVES_relaxed.owl
MONDO:0001171	biolink:NamedThing	acute salpingo-oophoritis	Acute form of salpingo-oophoritis.	DOVES_relaxed.owl
MONDO:0001474	biolink:NamedThing	chronic salpingo-oophoritis	Chronic form of salpingo-oophoritis.	DOVES_relaxed.owl
MONDO:0001837	biolink:NamedThing	acute gonococcal salpingitis	Acute form of gonococcal salpingitis.	DOVES_relaxed.owl
MONDO:0021950	biolink:NamedThing	autoimmune oophoritis	Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions.	DOVES_relaxed.owl
MONDO:0001898	biolink:NamedThing	optic choroid disorder	A disease involving the optic choroid.	DOVES_relaxed.owl
MONDO:0002311	biolink:NamedThing	retinal vascular disorder	Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage.	DOVES_relaxed.owl
MONDO:0001175	biolink:NamedThing	immature cataract	A cataract disease in which the cataract contains some transparent protein	DOVES_relaxed.owl
MONDO:0001687	biolink:NamedThing	diabetic cataract		DOVES_relaxed.owl
MONDO:0001782	biolink:NamedThing	mature cataract	A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity.	DOVES_relaxed.owl
MONDO:0001811	biolink:NamedThing	tetanic cataract	A cataract resulting from hypocalcemia.	DOVES_relaxed.owl
MONDO:0004495	biolink:NamedThing	myotonic cataract	A cataract occurring as a sequela of myotonic dystrophy.	DOVES_relaxed.owl
MONDO:0004847	biolink:NamedThing	senile cataract	A cataract with no obvious cause occurring in persons over 50 years old.	DOVES_relaxed.owl
MONDO:0005408	biolink:NamedThing	diabetes mellitus type 2 associated cataract	Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism	DOVES_relaxed.owl
MONDO:0007281	biolink:NamedThing	cataract 4 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene.	DOVES_relaxed.owl
MONDO:0007285	biolink:NamedThing	cataract 1 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene.	DOVES_relaxed.owl
MONDO:0011060	biolink:NamedThing	early-onset non-syndromic cataract	Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.	DOVES_relaxed.owl
MONDO:0011104	biolink:NamedThing	cataract 3 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene.	DOVES_relaxed.owl
MONDO:0011413	biolink:NamedThing	cataract 9 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene.	DOVES_relaxed.owl
MONDO:0012175	biolink:NamedThing	cataract 28	A cataract that has material basis in variation in the region 6p12-q12.	DOVES_relaxed.owl
MONDO:0012395	biolink:NamedThing	cataract 18	Any cataract in which the cause of the disease is a mutation in the FYCO1 gene.	DOVES_relaxed.owl
MONDO:0012701	biolink:NamedThing	cataract 12 multiple types	A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.	DOVES_relaxed.owl
MONDO:0013067	biolink:NamedThing	cataract 34 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene.	DOVES_relaxed.owl
MONDO:0013484	biolink:NamedThing	cataract 36	Any cataract in which the cause of the disease is a mutation in the TDRD7 gene.	DOVES_relaxed.owl
MONDO:0022888	biolink:NamedThing	craniostenosis cataract		DOVES_relaxed.owl
MONDO:0030465	biolink:NamedThing	cataract 49		DOVES_relaxed.owl
MONDO:0032735	biolink:NamedThing	cataract 48		DOVES_relaxed.owl
MONDO:0045049	biolink:NamedThing	hypermature cataract		DOVES_relaxed.owl
MONDO:0045050	biolink:NamedThing	nuclear cataract	A cataract (disease) that involves the lens nucleus.	DOVES_relaxed.owl
MONDO:0045051	biolink:NamedThing	cortical cataract	A cataract (disease) that involves the lens cortex.	DOVES_relaxed.owl
MONDO:0100436	biolink:NamedThing	cataract 2, multiple types	Any cataract in which the cause of the disease is a mutation in the CRYGC gene.	DOVES_relaxed.owl
MONDO:0001180	biolink:NamedThing	bullous keratopathy	Keratopathy that is characterized by the presence of epithelial bullae.	DOVES_relaxed.owl
MONDO:0001181	biolink:NamedThing	secondary corneal edema		DOVES_relaxed.owl
MONDO:0001183	biolink:NamedThing	contact lens corneal edema		DOVES_relaxed.owl
MONDO:0017236	biolink:NamedThing	rapidly progressive glomerulonephritis	Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus.	DOVES_relaxed.owl
MONDO:0001192	biolink:NamedThing	esophageal melanoma	A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)	DOVES_relaxed.owl
MONDO:0001204	biolink:NamedThing	esophagus sarcoma	A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma.	DOVES_relaxed.owl
MONDO:0019086	biolink:NamedThing	carcinoma of esophagus	Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC).	DOVES_relaxed.owl
MONDO:0021324	biolink:NamedThing	malignant neoplasm of abdominal esophagus	A cancer that involves the abdominal part of esophagus.	DOVES_relaxed.owl
MONDO:0021325	biolink:NamedThing	malignant neoplasm of thoracic esophagus	A cancer that involves the thoracic part of esophagus.	DOVES_relaxed.owl
MONDO:0021326	biolink:NamedThing	malignant neoplasm of cervical esophagus	A cancer that involves the cervical part of esophagus.	DOVES_relaxed.owl
MONDO:0001190	biolink:NamedThing	Brucella suis brucellosis	An disease or disorder caused by infection with Brucella suis.	DOVES_relaxed.owl
MONDO:0001857	biolink:NamedThing	Brucella canis brucellosis	A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly.	DOVES_relaxed.owl
MONDO:0001972	biolink:NamedThing	Brucella melitensis brucellosis	A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain.	DOVES_relaxed.owl
MONDO:0001973	biolink:NamedThing	Brucella abortus brucellosis	A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia.	DOVES_relaxed.owl
MONDO:0003649	biolink:NamedThing	esophageal neuroendocrine tumor	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus.	DOVES_relaxed.owl
MONDO:0004116	biolink:NamedThing	esophageal small cell neuroendocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells.	DOVES_relaxed.owl
MONDO:0004484	biolink:NamedThing	gallbladder melanoma	A melanoma that arises from the gallbladder.	DOVES_relaxed.owl
MONDO:0006927	biolink:NamedThing	Rickettsiaceae infectious disease	Infections with bacteria of the family rickettsiaceae.	DOVES_relaxed.owl
MONDO:0005947	biolink:NamedThing	rickettsial pneumonia	Pneumonia caused by infection with bacteria of the family rickettsiaceae.	DOVES_relaxed.owl
MONDO:0700057	biolink:NamedThing	neurological pain disorder	A nervous system disorder that has pain as a major feature.	DOVES_relaxed.owl
MONDO:0008179	biolink:NamedThing	paroxysmal extreme pain disorder	Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.	DOVES_relaxed.owl
MONDO:0021146	biolink:NamedThing	headache disorder	Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)	DOVES_relaxed.owl
MONDO:0024317	biolink:NamedThing	chronic pain syndrome	Chronic form of disorder involving pain.	DOVES_relaxed.owl
MONDO:0043237	biolink:NamedThing	glossodynia	Painful sensations in the tongue, including a sensation of burning.	DOVES_relaxed.owl
MONDO:0001198	biolink:NamedThing	acquired thrombocytopenia	An instance of thrombocytopenia that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0002048	biolink:NamedThing	thrombocytopenia due to immune destruction	A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus).	DOVES_relaxed.owl
MONDO:0024277	biolink:NamedThing	neonatal thrombocytopenia		DOVES_relaxed.owl
MONDO:0001202	biolink:NamedThing	prostatic cyst		DOVES_relaxed.owl
MONDO:0001776	biolink:NamedThing	prostate calculus	A concretion in the prostate.	DOVES_relaxed.owl
MONDO:0010811	biolink:NamedThing	benign prostatic hyperplasia	A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.	DOVES_relaxed.owl
MONDO:0001203	biolink:NamedThing	prolapse of lacrimal gland		DOVES_relaxed.owl
MONDO:0021222	biolink:NamedThing	lacrimal gland neoplasm	A neoplasm (disease) that involves the lacrimal gland.	DOVES_relaxed.owl
MONDO:0018078	biolink:NamedThing	soft tissue sarcoma	A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.	DOVES_relaxed.owl
MONDO:0001374	biolink:NamedThing	bladder sarcoma	A malignant mesenchymal cell neoplasm that affects the urinary bladder.	DOVES_relaxed.owl
MONDO:0001387	biolink:NamedThing	penile sarcoma	A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma.	DOVES_relaxed.owl
MONDO:0001418	biolink:NamedThing	trachea sarcoma	A rare malignant soft tissue neoplasm that arises from the trachea.	DOVES_relaxed.owl
MONDO:0001501	biolink:NamedThing	retroperitoneal sarcoma	A sarcoma involving a retroperitoneal space.	DOVES_relaxed.owl
MONDO:0001758	biolink:NamedThing	paranasal sinus sarcoma	A malignant soft tissue neoplasm that arises from the paranasal sinus.	DOVES_relaxed.owl
MONDO:0002117	biolink:NamedThing	pancreas sarcoma	A rare malignant soft tissue neoplasm that occurs primarily in the pancreas.	DOVES_relaxed.owl
MONDO:0002140	biolink:NamedThing	vagina sarcoma	A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma.	DOVES_relaxed.owl
MONDO:0002142	biolink:NamedThing	undifferentiated pleomorphic sarcoma	An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma.	DOVES_relaxed.owl
MONDO:0002225	biolink:NamedThing	ovarian sarcoma	A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor.	DOVES_relaxed.owl
MONDO:0002397	biolink:NamedThing	liver sarcoma	A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma.	DOVES_relaxed.owl
MONDO:0002426	biolink:NamedThing	lung sarcoma	A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma.	DOVES_relaxed.owl
MONDO:0002448	biolink:NamedThing	laryngeal sarcoma	A rare malignant soft tissue neoplasm that arises from the larynx.	DOVES_relaxed.owl
MONDO:0002490	biolink:NamedThing	breast sarcoma	A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma.	DOVES_relaxed.owl
MONDO:0002621	biolink:NamedThing	extraosseous osteosarcoma	An osteosarcoma arising from the soft tissue.	DOVES_relaxed.owl
MONDO:0002852	biolink:NamedThing	mediastinum sarcoma	A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma.	DOVES_relaxed.owl
MONDO:0002857	biolink:NamedThing	gallbladder sarcoma	A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.	DOVES_relaxed.owl
MONDO:0002865	biolink:NamedThing	anus sarcoma	A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma.	DOVES_relaxed.owl
MONDO:0002926	biolink:NamedThing	clear cell sarcoma	A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases.	DOVES_relaxed.owl
MONDO:0002930	biolink:NamedThing	kidney sarcoma	A sarcoma involving a kidney.	DOVES_relaxed.owl
MONDO:0003028	biolink:NamedThing	thyroid sarcoma	A malignant soft tissue neoplasm primarily involving the thyroid gland.	DOVES_relaxed.owl
MONDO:0003354	biolink:NamedThing	heart sarcoma	A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas.	DOVES_relaxed.owl
MONDO:0005058	biolink:NamedThing	leiomyosarcoma	An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas.	DOVES_relaxed.owl
MONDO:0005060	biolink:NamedThing	liposarcoma	A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors.	DOVES_relaxed.owl
MONDO:0005164	biolink:NamedThing	fibrosarcoma	A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone.	DOVES_relaxed.owl
MONDO:0005212	biolink:NamedThing	rhabdomyosarcoma	A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites.	DOVES_relaxed.owl
MONDO:0005214	biolink:NamedThing	vulva sarcoma	A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma.	DOVES_relaxed.owl
MONDO:0006255	biolink:NamedThing	intimal sarcoma	A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor.	DOVES_relaxed.owl
MONDO:0006414	biolink:NamedThing	skin sarcoma	A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma.	DOVES_relaxed.owl
MONDO:0006863	biolink:NamedThing	myxosarcoma	An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation.	DOVES_relaxed.owl
MONDO:0010434	biolink:NamedThing	synovial sarcoma	Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).	DOVES_relaxed.owl
MONDO:0011655	biolink:NamedThing	alveolar soft part sarcoma	An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh.	DOVES_relaxed.owl
MONDO:0012825	biolink:NamedThing	extraskeletal myxoid chondrosarcoma	A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs.	DOVES_relaxed.owl
MONDO:0016982	biolink:NamedThing	angiosarcoma	A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma.	DOVES_relaxed.owl
MONDO:0017387	biolink:NamedThing	epithelioid sarcoma	An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma).	DOVES_relaxed.owl
MONDO:0018270	biolink:NamedThing	extraskeletal Ewing sarcoma	A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy.	DOVES_relaxed.owl
MONDO:0019202	biolink:NamedThing	myxofibrosarcoma	A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.	DOVES_relaxed.owl
MONDO:0019373	biolink:NamedThing	desmoplastic small round cell tumor	Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.	DOVES_relaxed.owl
MONDO:0020661	biolink:NamedThing	undifferentiated round cell sarcoma	An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio.	DOVES_relaxed.owl
MONDO:0044337	biolink:NamedThing	stromal sarcoma	A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma.	DOVES_relaxed.owl
MONDO:0001207	biolink:NamedThing	neonatal respiratory failure		DOVES_relaxed.owl
MONDO:0006932	biolink:NamedThing	pulmonary edema	Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure).	DOVES_relaxed.owl
MONDO:0002093	biolink:NamedThing	acanthoma	A benign skin neoplasm composed of epithelial cells.	DOVES_relaxed.owl
MONDO:0002536	biolink:NamedThing	skin papilloma	A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin.	DOVES_relaxed.owl
MONDO:0004273	biolink:NamedThing	breast apocrine adenoma	A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia.	DOVES_relaxed.owl
MONDO:0020593	biolink:NamedThing	trichoblastoma	A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty.	DOVES_relaxed.owl
MONDO:0024246	biolink:NamedThing	syringofibroadenoma	A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma.	DOVES_relaxed.owl
MONDO:0001210	biolink:NamedThing	enophthalmos	Abnormal recession of the eyeball within the eye socket.	DOVES_relaxed.owl
MONDO:0004751	biolink:NamedThing	disease of orbital part of eye adnexa	Diseases of the bony orbit and contents except the eyeball.	DOVES_relaxed.owl
MONDO:0001509	biolink:NamedThing	endocrine exophthalmos	Progressive inflammation and damage to tissues around the eyes, especially extraocular muscle, connective, and fatty tissue occurring in patients with hyperthyroidism or a history of hyperthyroidism due to Graves’ disease.	DOVES_relaxed.owl
MONDO:0001510	biolink:NamedThing	lateral displacement of eye		DOVES_relaxed.owl
MONDO:0001512	biolink:NamedThing	intermittent proptosis		DOVES_relaxed.owl
MONDO:0001513	biolink:NamedThing	pulsating exophthalmos		DOVES_relaxed.owl
MONDO:0001915	biolink:NamedThing	orbital cyst		DOVES_relaxed.owl
MONDO:0004929	biolink:NamedThing	constant exophthalmos		DOVES_relaxed.owl
MONDO:0001329	biolink:NamedThing	accommodative spasm		DOVES_relaxed.owl
MONDO:0005555	biolink:NamedThing	cycloplegia	Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation.	DOVES_relaxed.owl
MONDO:0002285	biolink:NamedThing	pupil disorder	A disease involving the pupil.	DOVES_relaxed.owl
MONDO:0001303	biolink:NamedThing	abnormal pupillary function		DOVES_relaxed.owl
MONDO:0031322	biolink:NamedThing	triopia	A craniofacial malformation with prosencephalic duplication; the presence of three eyes.	DOVES_relaxed.owl
MONDO:0001213	biolink:NamedThing	serous glue ear	Chronic form of serous otitis media.	DOVES_relaxed.owl
MONDO:0021203	biolink:NamedThing	serous otitis media		DOVES_relaxed.owl
MONDO:0021206	biolink:NamedThing	chronic non-suppurative otitis media	Chronic form of non-suppurative otitis media.	DOVES_relaxed.owl
MONDO:0005892	biolink:NamedThing	otitis media with effusion	Otitis media associated with accumulation of fluid in the middle ear.	DOVES_relaxed.owl
MONDO:0002307	biolink:NamedThing	blepharoconjunctivitis	Inflammation of both the eyelids and the conjunctiva.	DOVES_relaxed.owl
MONDO:0002309	biolink:NamedThing	papillary conjunctivitis	Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva.	DOVES_relaxed.owl
MONDO:0002314	biolink:NamedThing	chronic conjunctivitis	Conjunctivitis that is persistent and long-standing.	DOVES_relaxed.owl
MONDO:0004768	biolink:NamedThing	keratoconjunctivitis	Inflammation of both the cornea and the conjunctiva.	DOVES_relaxed.owl
MONDO:0004856	biolink:NamedThing	rosacea conjunctivitis		DOVES_relaxed.owl
MONDO:0043541	biolink:NamedThing	viral conjunctivitis	Conjunctivitis resulting from viral infection.	DOVES_relaxed.owl
MONDO:0001216	biolink:NamedThing	pulp degeneration	Deterioration of the normal pulp tissue.	DOVES_relaxed.owl
MONDO:0001326	biolink:NamedThing	dental pulp necrosis	Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification.	DOVES_relaxed.owl
MONDO:0001890	biolink:NamedThing	pulp erosion	A tooth erosion, non-bacterial that involves the dental pulp.	DOVES_relaxed.owl
MONDO:0003542	biolink:NamedThing	dental pulp calcification		DOVES_relaxed.owl
MONDO:0020812	biolink:NamedThing	exposure, dental pulp	The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment.	DOVES_relaxed.owl
MONDO:0020818	biolink:NamedThing	secondary dentine	Dentin formed by normal pulp after completion of root end formation.	DOVES_relaxed.owl
MONDO:0001217	biolink:NamedThing	pseudomembranous conjunctivitis	Conjunctivitis that is characterized by formation of a pseudomembrane.	DOVES_relaxed.owl
MONDO:0001219	biolink:NamedThing	serous conjunctivitis except viral		DOVES_relaxed.owl
MONDO:0001224	biolink:NamedThing	Angelucci syndrome	Atopic conjunctivitis that is of relatively short duration and that has a rapid onset.	DOVES_relaxed.owl
MONDO:0001226	biolink:NamedThing	acute contagious conjunctivitis	Acute inflammation of the conjunctiva characterized by pink or red color in the eyes.	DOVES_relaxed.owl
MONDO:0001228	biolink:NamedThing	conjunctival folliculosis		DOVES_relaxed.owl
MONDO:0005808	biolink:NamedThing	inclusion conjunctivitis	Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery.	DOVES_relaxed.owl
MONDO:0001220	biolink:NamedThing	hypoparathyroidism	Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body.	DOVES_relaxed.owl
MONDO:0001741	biolink:NamedThing	hyperparathyroidism	Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes.	DOVES_relaxed.owl
MONDO:0006354	biolink:NamedThing	parathyroid hyperplasia	A hyperplasia that involves the parathyroid gland.	DOVES_relaxed.owl
MONDO:0004869	biolink:NamedThing	pelvic varices	A varicose disease that involves the pelvic region of trunk.	DOVES_relaxed.owl
MONDO:0021643	biolink:NamedThing	mesenteric varices	A varicose disease that involves the mesentery.	DOVES_relaxed.owl
MONDO:0001222	biolink:NamedThing	congenital T-cell immunodeficiency	A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.	DOVES_relaxed.owl
MONDO:0003780	biolink:NamedThing	T-cell immunodeficiency	A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.	DOVES_relaxed.owl
MONDO:0005642	biolink:NamedThing	atopic conjunctivitis	Conjunctivitis due to hypersensitivity to various allergens.	DOVES_relaxed.owl
MONDO:0001225	biolink:NamedThing	opioid abuse	A substance abuse that involves the recurring use of opioid drugs despite negative consequences.	DOVES_relaxed.owl
MONDO:0002491	biolink:NamedThing	substance abuse	The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed.	DOVES_relaxed.owl
MONDO:0001345	biolink:NamedThing	antidepressant type abuse	A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.	DOVES_relaxed.owl
MONDO:0001585	biolink:NamedThing	hallucinogen abuse	A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences.	DOVES_relaxed.owl
MONDO:0002046	biolink:NamedThing	alcohol abuse	The use of alcoholic beverages to excess, either on individual occasions ("binge drinking") or as a regular practice.	DOVES_relaxed.owl
MONDO:0003969	biolink:NamedThing	amphetamine abuse	Disorders related or resulting from use of amphetamines.	DOVES_relaxed.owl
MONDO:0004456	biolink:NamedThing	cocaine abuse	Disorders related or resulting from use of cocaine.	DOVES_relaxed.owl
MONDO:0004599	biolink:NamedThing	barbiturate abuse	A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences.	DOVES_relaxed.owl
MONDO:0005912	biolink:NamedThing	phencyclidine abuse	The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning.	DOVES_relaxed.owl
MONDO:0001227	biolink:NamedThing	chronic tympanitis	Chronic form of tympanitis.	DOVES_relaxed.owl
MONDO:0001229	biolink:NamedThing	small intestine diverticulitis	A diverticulitis that involves the small intestine.	DOVES_relaxed.owl
MONDO:0002866	biolink:NamedThing	duodenal disorder	Pathological conditions in the duodenum region of the small intestine (intestine, small).	DOVES_relaxed.owl
MONDO:0005312	biolink:NamedThing	pouchitis	Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative).	DOVES_relaxed.owl
MONDO:0001231	biolink:NamedThing	orbital periostitis		DOVES_relaxed.owl
MONDO:0001232	biolink:NamedThing	orbital osteomyelitis		DOVES_relaxed.owl
MONDO:0001233	biolink:NamedThing	orbital tenonitis		DOVES_relaxed.owl
MONDO:0006881	biolink:NamedThing	orbital cellulitis	Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary.	DOVES_relaxed.owl
MONDO:0001235	biolink:NamedThing	appendix cancer	A malignant neoplasm involving the vermiform appendix	DOVES_relaxed.owl
MONDO:0021465	biolink:NamedThing	benign neoplasm of appendix	A benign neoplasm that involves the vermiform appendix.	DOVES_relaxed.owl
MONDO:0024501	biolink:NamedThing	appendix neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	DOVES_relaxed.owl
MONDO:0002034	biolink:NamedThing	cecum lymphoma	An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas.	DOVES_relaxed.owl
MONDO:0006029	biolink:NamedThing	cecum carcinoma	A carcinoma that arises from epithelial cells of the caecum	DOVES_relaxed.owl
MONDO:0006090	biolink:NamedThing	appendix hyperplastic polyp	A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia.	DOVES_relaxed.owl
MONDO:0001237	biolink:NamedThing	appendix lymphoma	A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare.	DOVES_relaxed.owl
MONDO:0003196	biolink:NamedThing	appendix carcinoma	A carcinoma that arises from epithelial cells of the vermiform appendix	DOVES_relaxed.owl
MONDO:0001239	biolink:NamedThing	anemia of prematurity	A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition.	DOVES_relaxed.owl
MONDO:0006567	biolink:NamedThing	kernicterus due to isoimmunization	Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus.	DOVES_relaxed.owl
MONDO:0001241	biolink:NamedThing	transient neonatal neutropenia		DOVES_relaxed.owl
MONDO:0001475	biolink:NamedThing	neutropenia	A decrease in the number of neutrophils found in the blood.	DOVES_relaxed.owl
MONDO:0015822	biolink:NamedThing	acquired neutropenia	An instance of neutropenia that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0002304	biolink:NamedThing	protein S deficiency	Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot.	DOVES_relaxed.owl
MONDO:0018896	biolink:NamedThing	thrombotic thrombocytopenic purpura	Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP.	DOVES_relaxed.owl
MONDO:0100240	biolink:NamedThing	inherited thrombophilia	An instance of thrombophilia that is inherited.	DOVES_relaxed.owl
MONDO:0001247	biolink:NamedThing	social phobia	An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable.	DOVES_relaxed.owl
MONDO:0003709	biolink:NamedThing	agoraphobia	An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop.	DOVES_relaxed.owl
MONDO:0001249	biolink:NamedThing	trachoma	A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis.	DOVES_relaxed.owl
MONDO:0005701	biolink:NamedThing	chlamydia trachomatis infectious disease	An infection that is caused by Chlamydia trachomatis.	DOVES_relaxed.owl
MONDO:0025598	biolink:NamedThing	pneumonia caused by chlamydia	An pneumonia caused by infection with Chlamydia.	DOVES_relaxed.owl
MONDO:0001251	biolink:NamedThing	chronic apical periodontitis	Chronic form of periapical periodontitis.	DOVES_relaxed.owl
MONDO:0001338	biolink:NamedThing	acute apical periodontitis		DOVES_relaxed.owl
MONDO:0006897	biolink:NamedThing	periapical granuloma	Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment.	DOVES_relaxed.owl
MONDO:0006989	biolink:NamedThing	suppurative periapical periodontitis	Localized collection of pus in the tissues that enclose the root of a tooth.	DOVES_relaxed.owl
MONDO:0012051	biolink:NamedThing	periodontitis, aggressive, 2		DOVES_relaxed.owl
MONDO:0001255	biolink:NamedThing	ventilation pneumonitis	An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.	DOVES_relaxed.owl
MONDO:0017853	biolink:NamedThing	hypersensitivity pneumonitis	Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized.	DOVES_relaxed.owl
MONDO:0001540	biolink:NamedThing	bagassosis	An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis.	DOVES_relaxed.owl
MONDO:0005865	biolink:NamedThing	mushroom workers' lung	An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes.	DOVES_relaxed.owl
MONDO:0005959	biolink:NamedThing	sick building syndrome	A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)	DOVES_relaxed.owl
MONDO:0017363	biolink:NamedThing	idiopathic chronic eosinophilic pneumonia	A very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss).	DOVES_relaxed.owl
MONDO:0020535	biolink:NamedThing	house allergic alveolitis	House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis.	DOVES_relaxed.owl
MONDO:0020537	biolink:NamedThing	occupational allergic alveolitis	Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise	DOVES_relaxed.owl
MONDO:0001257	biolink:NamedThing	retinal microaneurysm		DOVES_relaxed.owl
MONDO:0002089	biolink:NamedThing	retinal vascular occlusion	An occlusion of the retinal vasculature.	DOVES_relaxed.owl
MONDO:0003343	biolink:NamedThing	retinal hemangioblastoma	A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement.	DOVES_relaxed.owl
MONDO:0004348	biolink:NamedThing	retinal telangiectasia		DOVES_relaxed.owl
MONDO:0018148	biolink:NamedThing	vasoproliferative tumor of retina	Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.	DOVES_relaxed.owl
MONDO:0019516	biolink:NamedThing	exudative vitreoretinopathy	Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.	DOVES_relaxed.owl
MONDO:0042495	biolink:NamedThing	arteriosclerotic retinopathy	A arteriosclerosis disorder that involves the retina.	DOVES_relaxed.owl
MONDO:0004450	biolink:NamedThing	carotid artery occlusion	A occlusion precerebral artery that involves the carotid artery segment.	DOVES_relaxed.owl
MONDO:0001259	biolink:NamedThing	pituitary gland infarction	Ischemic necrosis of the pituitary gland.	DOVES_relaxed.owl
MONDO:0002721	biolink:NamedThing	necrosis of pituitary	Ischemic or hemorrhagic necrosis of the pituitary gland.	DOVES_relaxed.owl
MONDO:0001260	biolink:NamedThing	cercarial dermatitis	An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin.	DOVES_relaxed.owl
MONDO:0006001	biolink:NamedThing	urinary schistosomiasis	A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time.	DOVES_relaxed.owl
MONDO:0044344	biolink:NamedThing	Schistosoma japonicum infectious disease	An infection that is caused by Schistosoma japonicum.	DOVES_relaxed.owl
MONDO:0044351	biolink:NamedThing	Schistosoma intercalatum infectious disease	An disease or disorder caused by infection with Schistosoma intercalatum.	DOVES_relaxed.owl
MONDO:0001479	biolink:NamedThing	cutaneous diphtheria	A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla.	DOVES_relaxed.owl
MONDO:0001794	biolink:NamedThing	Pthirus pubis infestation	Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects.	DOVES_relaxed.owl
MONDO:0004525	biolink:NamedThing	scabies	A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows.	DOVES_relaxed.owl
MONDO:0004712	biolink:NamedThing	herpes simplex dermatitis	Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection.	DOVES_relaxed.owl
MONDO:0021033	biolink:NamedThing	herpes zoster dermatitis	Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve.	DOVES_relaxed.owl
MONDO:0021932	biolink:NamedThing	infection by Trypanosoma gambiense	Trypanosomiasis caused by infection by Trypanosoma brucei gambiense.	DOVES_relaxed.owl
MONDO:0002875	biolink:NamedThing	parasitic ectoparasitic infectious disease	Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods.	DOVES_relaxed.owl
MONDO:0005446	biolink:NamedThing	cutaneous leishmaniasis	Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas.	DOVES_relaxed.owl
MONDO:0024284	biolink:NamedThing	demodicidosis of sebaceous gland	A demodicidosis that involves the sebaceous gland.	DOVES_relaxed.owl
MONDO:0001261	biolink:NamedThing	Mobitz type II atrioventricular block	A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC)	DOVES_relaxed.owl
MONDO:0020744	biolink:NamedThing	Mobitz type I atrioventricular block	A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)	DOVES_relaxed.owl
MONDO:0001262	biolink:NamedThing	African histoplasmosis	An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii.	DOVES_relaxed.owl
MONDO:0001471	biolink:NamedThing	histoplasmosis meningitis	An infectious meningitis caused by infection with Histoplasma capsulatum.	DOVES_relaxed.owl
MONDO:0033821	biolink:NamedThing	fungal keratitis		DOVES_relaxed.owl
MONDO:0001265	biolink:NamedThing	schizophreniform disorder	A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning.	DOVES_relaxed.owl
MONDO:0004359	biolink:NamedThing	delusional disorder	A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s).	DOVES_relaxed.owl
MONDO:0004630	biolink:NamedThing	substance-induced psychosis		DOVES_relaxed.owl
MONDO:0005090	biolink:NamedThing	schizophrenia	A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.	DOVES_relaxed.owl
MONDO:0005465	biolink:NamedThing	methamphetamine-induced psychosis	Abnormal mental state resulting from an abuse of methamphetamine	DOVES_relaxed.owl
MONDO:0005487	biolink:NamedThing	schizoaffective disorder	A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms.	DOVES_relaxed.owl
MONDO:0021680	biolink:NamedThing	streptococcal infection	Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G.	DOVES_relaxed.owl
MONDO:0005114	biolink:NamedThing	pneumococcal infection	Infections with bacteria of the species streptococcus pneumoniae.	DOVES_relaxed.owl
MONDO:0005952	biolink:NamedThing	scarlet fever	A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever.	DOVES_relaxed.owl
MONDO:0020544	biolink:NamedThing	streptococcal toxic-shock syndrome	Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection.	DOVES_relaxed.owl
MONDO:0700218	biolink:NamedThing	group B streptococcal infection	A disease caused by infection with Group B Streptococcus.	DOVES_relaxed.owl
MONDO:0001268	biolink:NamedThing	gingival recession	A loss of gum tissue resulting in an exposure of the roots of the teeth.	DOVES_relaxed.owl
MONDO:0002021	biolink:NamedThing	gingival disorder	A disease involving the gingiva.	DOVES_relaxed.owl
MONDO:0002507	biolink:NamedThing	gingival overgrowth	Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)	DOVES_relaxed.owl
MONDO:0002508	biolink:NamedThing	gingivitis	A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth.	DOVES_relaxed.owl
MONDO:0021086	biolink:NamedThing	gingival neoplasm	A benign or malignant neoplasm that affects the upper or lower gingiva.	DOVES_relaxed.owl
MONDO:0022538	biolink:NamedThing	leukoplakia of gingiva	A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis.	DOVES_relaxed.owl
MONDO:0001270	biolink:NamedThing	stone in bladder diverticulum		DOVES_relaxed.owl
MONDO:0006678	biolink:NamedThing	bladder calculus	A concretion in the urinary bladder.	DOVES_relaxed.owl
MONDO:0001271	biolink:NamedThing	lens subluxation	A partial dislocation of the lens of the eye.	DOVES_relaxed.owl
MONDO:0001906	biolink:NamedThing	posterior dislocation of lens		DOVES_relaxed.owl
MONDO:0007202	biolink:NamedThing	blepharoptosis-myopia-ectopia lentis syndrome	This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia.	DOVES_relaxed.owl
MONDO:0011106	biolink:NamedThing	facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.	DOVES_relaxed.owl
MONDO:0012456	biolink:NamedThing	congenital primary aphakia	Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents.	DOVES_relaxed.owl
MONDO:0015997	biolink:NamedThing	ectopia lentis-chorioretinal dystrophy-myopia syndrome	Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0015998	biolink:NamedThing	isolated ectopia lentis	Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.	DOVES_relaxed.owl
MONDO:0001275	biolink:NamedThing	spinal meningioma	Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent.	DOVES_relaxed.owl
MONDO:0002778	biolink:NamedThing	epidural spinal canal meningioma	A meningioma that arises in the epidural spinal canal space.	DOVES_relaxed.owl
MONDO:0003770	biolink:NamedThing	thoracic spinal canal and spinal cord meningioma	A meningioma that arises from the meninges of the thoracic region of the spinal cord.	DOVES_relaxed.owl
MONDO:0004256	biolink:NamedThing	lumbar spinal canal and spinal cord meningioma	A meningioma that arises from the meninges of the lumbar region of the spinal cord.	DOVES_relaxed.owl
MONDO:0004317	biolink:NamedThing	multiple spinal canal and spinal cord meningioma	Multiple meningiomas that arises from the spinal meninges.	DOVES_relaxed.owl
MONDO:0004396	biolink:NamedThing	cervical spinal canal and spinal cord meningioma	A meningioma that arises from the meninges of the cervical region of the spinal cord.	DOVES_relaxed.owl
MONDO:0004498	biolink:NamedThing	sacral spinal canal and spinal cord meningioma	A meningioma that arises from the meninges of the sacral region of the spinal cord.	DOVES_relaxed.owl
MONDO:0001789	biolink:NamedThing	neurofibroma of spinal cord	A neurofibroma that arises from the spinal cord.	DOVES_relaxed.owl
MONDO:0002716	biolink:NamedThing	childhood spinal cord tumor	A benign or malignant neoplasm affecting the spinal cord during childhood.	DOVES_relaxed.owl
MONDO:0002719	biolink:NamedThing	conus medullaris neoplasm	A neoplasm (disease) that involves the conus medullaris.	DOVES_relaxed.owl
MONDO:0003108	biolink:NamedThing	cervicomedullary junction neoplasm		DOVES_relaxed.owl
MONDO:0004096	biolink:NamedThing	spinal cord dermoid cyst	A dermoid cyst that involves the spinal cord.	DOVES_relaxed.owl
MONDO:0021506	biolink:NamedThing	benign neoplasm of spinal cord	A benign neoplasm that involves the spinal cord.	DOVES_relaxed.owl
MONDO:0005695	biolink:NamedThing	central nervous system AIDS arteritis	Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections.	DOVES_relaxed.owl
MONDO:0022559	biolink:NamedThing	benign angiitis of the central nervous system	A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event.	DOVES_relaxed.owl
MONDO:0043494	biolink:NamedThing	arteritis	An inflammatory process affecting an artery.	DOVES_relaxed.owl
MONDO:0002341	biolink:NamedThing	granulomatous angiitis	Inflammation of the arteries that is characterized by the presence of granulomas.	DOVES_relaxed.owl
MONDO:0019124	biolink:NamedThing	microscopic polyangiitis	Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs.	DOVES_relaxed.owl
MONDO:0019170	biolink:NamedThing	polyarteritis nodosa	Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney.	DOVES_relaxed.owl
MONDO:0043576	biolink:NamedThing	endarteritis	Inflammation of the arterial intima.	DOVES_relaxed.owl
MONDO:0001280	biolink:NamedThing	choroiditis	An inflammatory process that affects the choroid.	DOVES_relaxed.owl
MONDO:0001666	biolink:NamedThing	retinal dystrophies primarily involving Bruch's membrane	A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation.	DOVES_relaxed.owl
MONDO:0007472	biolink:NamedThing	basal laminar drusen	A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3.	DOVES_relaxed.owl
MONDO:0010557	biolink:NamedThing	choroideremia	Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.	DOVES_relaxed.owl
MONDO:0021258	biolink:NamedThing	choroid neoplasm	A neoplasm (disease) that involves the optic choroid.	DOVES_relaxed.owl
MONDO:0006918	biolink:NamedThing	posterior uveitis	Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis.	DOVES_relaxed.owl
MONDO:0002783	biolink:NamedThing	Shwartzman phenomenon	Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow.	DOVES_relaxed.owl
MONDO:0006794	biolink:NamedThing	hypersensitivity vasculitis	A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer.	DOVES_relaxed.owl
MONDO:0015488	biolink:NamedThing	predominantly large-vessel vasculitis		DOVES_relaxed.owl
MONDO:0015489	biolink:NamedThing	predominantly medium-vessel vasculitis		DOVES_relaxed.owl
MONDO:0015490	biolink:NamedThing	predominantly small-vessel vasculitis		DOVES_relaxed.owl
MONDO:0018640	biolink:NamedThing	secondary vasculitis		DOVES_relaxed.owl
MONDO:0020576	biolink:NamedThing	cutaneous vasculitis	Inflammation of the blood vessel wall characterized by palpable purpura.	DOVES_relaxed.owl
MONDO:0025514	biolink:NamedThing	livedoid vasculopathy	Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.	DOVES_relaxed.owl
MONDO:0030703	biolink:NamedThing	autoimmune vasculitis	An autoimmune form of vasculitis.	DOVES_relaxed.owl
MONDO:0800113	biolink:NamedThing	necrotizing vasculitis	A type of vasculitis that is comprised of vasculitides that present with necrosis.	DOVES_relaxed.owl
MONDO:0001281	biolink:NamedThing	alternating exotropia	A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction.	DOVES_relaxed.owl
MONDO:0001392	biolink:NamedThing	monocular exotropia		DOVES_relaxed.owl
MONDO:0001282	biolink:NamedThing	fallopian tube endometriosis	Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse.	DOVES_relaxed.owl
MONDO:0024652	biolink:NamedThing	embryonic cyst of fallopian tube		DOVES_relaxed.owl
MONDO:0043762	biolink:NamedThing	tubal pregnancy	An abnormal pregnancy in which the conception is implanted in the fallopian tube.	DOVES_relaxed.owl
MONDO:0600025	biolink:NamedThing	hydrosalpinx	Fluid accumulation and dilatation of the fallopian tube due to tubal blockage.	DOVES_relaxed.owl
MONDO:0001285	biolink:NamedThing	endometriosis of pelvic peritoneum		DOVES_relaxed.owl
MONDO:0001287	biolink:NamedThing	endometriosis in cutaneous scar		DOVES_relaxed.owl
MONDO:0001288	biolink:NamedThing	endometriosis of rectovaginal septum and vagina	Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina.	DOVES_relaxed.owl
MONDO:0006337	biolink:NamedThing	ovarian endometriosis	A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions.	DOVES_relaxed.owl
MONDO:0001290	biolink:NamedThing	allergic cutaneous vasculitis	Inflammation of the small vessels of the skin that is mediated by the immune system.	DOVES_relaxed.owl
MONDO:0006514	biolink:NamedThing	recalcitrant atopic dermatitis	Moderate to severe atopic dermatitis with allergic sensitisation.	DOVES_relaxed.owl
MONDO:0006525	biolink:NamedThing	allergic contact dermatitis	An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak.	DOVES_relaxed.owl
MONDO:0006526	biolink:NamedThing	allergic urticaria	A urticaria with a basis in a pathological type I hypersensitivity reaction.	DOVES_relaxed.owl
MONDO:0007817	biolink:NamedThing	IgE responsiveness, atopic	Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue.	DOVES_relaxed.owl
MONDO:0011292	biolink:NamedThing	dermatitis, atopic		DOVES_relaxed.owl
MONDO:0019167	biolink:NamedThing	immunoglobulin a vasculitis	A systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement.	DOVES_relaxed.owl
MONDO:0001293	biolink:NamedThing	subglottis cancer	A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.	DOVES_relaxed.owl
MONDO:0001724	biolink:NamedThing	supraglottis cancer	A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.	DOVES_relaxed.owl
MONDO:0002351	biolink:NamedThing	glottis cancer	A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas.	DOVES_relaxed.owl
MONDO:0002358	biolink:NamedThing	laryngeal carcinoma	Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation.	DOVES_relaxed.owl
MONDO:0004637	biolink:NamedThing	aryepiglottic fold cancer	A malignant neoplasm involving the aryepiglottic fold.	DOVES_relaxed.owl
MONDO:0001294	biolink:NamedThing	Horner syndrome	Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause.	DOVES_relaxed.owl
MONDO:0001299	biolink:NamedThing	diabetic autonomic neuropathy	Autonomic neuropathy that is caused by diabetes mellitus.	DOVES_relaxed.owl
MONDO:0016040	biolink:NamedThing	harlequin syndrome	Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.	DOVES_relaxed.owl
MONDO:0018334	biolink:NamedThing	chronic hiccup	Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.	DOVES_relaxed.owl
MONDO:0018608	biolink:NamedThing	pure autonomic failure	Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.	DOVES_relaxed.owl
MONDO:0018617	biolink:NamedThing	baroreflex failure	Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques.	DOVES_relaxed.owl
MONDO:0043975	biolink:NamedThing	autonomic dysreflexia	A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)	DOVES_relaxed.owl
MONDO:0044872	biolink:NamedThing	dysautonomia	An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis.	DOVES_relaxed.owl
MONDO:0044993	biolink:NamedThing	sympathetic nervous system disorder	A disease or disorder that involves the sympathetic nervous system.	DOVES_relaxed.owl
MONDO:0044995	biolink:NamedThing	parasympathetic nervous system disorder	A disease or disorder that involves the parasympathetic nervous system.	DOVES_relaxed.owl
MONDO:0004588	biolink:NamedThing	night blindness	Inability to see clearly in dim light.	DOVES_relaxed.owl
MONDO:0001396	biolink:NamedThing	abnormal threshold of rods		DOVES_relaxed.owl
MONDO:0001297	biolink:NamedThing	cardiac tamponade	Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion.	DOVES_relaxed.owl
MONDO:0001370	biolink:NamedThing	pericardial effusion	Fluid collection within the pericardial sac, usually due to inflammation.	DOVES_relaxed.owl
MONDO:0005783	biolink:NamedThing	hemopericardium	An accumulation of blood within the pericardial sac.	DOVES_relaxed.owl
MONDO:0004910	biolink:NamedThing	mitral valve prolapse	A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.	DOVES_relaxed.owl
MONDO:0005852	biolink:NamedThing	mitral valve stenosis	Narrowing of the left atrioventricular mitral orifice.	DOVES_relaxed.owl
MONDO:0015109	biolink:NamedThing	congenital anomaly of the mitral subvalvular apparatus		DOVES_relaxed.owl
MONDO:0042967	biolink:NamedThing	rheumatic disease of mitral valve	A rheumatologic disorder that involves the mitral valve.	DOVES_relaxed.owl
MONDO:0001583	biolink:NamedThing	diabetic polyneuropathy		DOVES_relaxed.owl
MONDO:0001301	biolink:NamedThing	rumination disorder	Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment.	DOVES_relaxed.owl
MONDO:0001441	biolink:NamedThing	pica disease	An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development.	DOVES_relaxed.owl
MONDO:0005351	biolink:NamedThing	anorexia nervosa	A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea.	DOVES_relaxed.owl
MONDO:0005452	biolink:NamedThing	bulimia nervosa	A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image.	DOVES_relaxed.owl
MONDO:0005582	biolink:NamedThing	binge eating disorder	Recurrent episodes of over-eating.	DOVES_relaxed.owl
MONDO:0004903	biolink:NamedThing	deep keratitis		DOVES_relaxed.owl
MONDO:0001965	biolink:NamedThing	sclerosing keratitis		DOVES_relaxed.owl
MONDO:0002435	biolink:NamedThing	oculomotor nerve neoplasm	A neoplasm involving a oculomotor nerve.	DOVES_relaxed.owl
MONDO:0007043	biolink:NamedThing	Pfeiffer syndrome	Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.	DOVES_relaxed.owl
MONDO:0007276	biolink:NamedThing	cat-eye syndrome	Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.	DOVES_relaxed.owl
MONDO:0007404	biolink:NamedThing	Cri-du-chat syndrome	Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0007405	biolink:NamedThing	Crouzon syndrome	Crouzon disease is characterized by craniosynostosis and facial hypoplasia.	DOVES_relaxed.owl
MONDO:0008056	biolink:NamedThing	myotonic dystrophy type 1	Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.	DOVES_relaxed.owl
MONDO:0009764	biolink:NamedThing	ocular motor apraxia, Cogan type	Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.	DOVES_relaxed.owl
MONDO:0010679	biolink:NamedThing	Duchenne muscular dystrophy	Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.	DOVES_relaxed.owl
MONDO:0014119	biolink:NamedThing	intellectual disability-strabismus syndrome		DOVES_relaxed.owl
MONDO:0018065	biolink:NamedThing	isolated trigonocephaly	Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.	DOVES_relaxed.owl
MONDO:0018112	biolink:NamedThing	isolated scaphocephaly	Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.	DOVES_relaxed.owl
MONDO:0018113	biolink:NamedThing	isolated plagiocephaly	Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.	DOVES_relaxed.owl
MONDO:0018114	biolink:NamedThing	isolated brachycephaly	Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.	DOVES_relaxed.owl
MONDO:0018971	biolink:NamedThing	isolated oxycephaly	Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.	DOVES_relaxed.owl
MONDO:0020252	biolink:NamedThing	essential strabismus		DOVES_relaxed.owl
MONDO:0100339	biolink:NamedThing	Friedreich ataxia	An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty.	DOVES_relaxed.owl
MONDO:0001312	biolink:NamedThing	acute serous otitis media	A acute transudative otitis media with thin, watery and sterile effusion.	DOVES_relaxed.owl
MONDO:0002737	biolink:NamedThing	acute sanguinous otitis media	A acute transudative otitis media which involves bloody effusion.	DOVES_relaxed.owl
MONDO:0004865	biolink:NamedThing	blue drum syndrome	A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.	DOVES_relaxed.owl
MONDO:0001313	biolink:NamedThing	acute allergic serous otitis media	A acute serous otitis media caused by an allergen.	DOVES_relaxed.owl
MONDO:0002204	biolink:NamedThing	transient arthritis	Arthritis that is not permanent.	DOVES_relaxed.owl
MONDO:0005178	biolink:NamedThing	osteoarthritis	A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity.	DOVES_relaxed.owl
MONDO:0006898	biolink:NamedThing	periarthritis	Inflammation of the tissues around a joint. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0008383	biolink:NamedThing	rheumatoid arthritis	A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor.	DOVES_relaxed.owl
MONDO:0017376	biolink:NamedThing	reactive arthritis	Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis.	DOVES_relaxed.owl
MONDO:0019355	biolink:NamedThing	adult-onset Still disease	A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.	DOVES_relaxed.owl
MONDO:0024280	biolink:NamedThing	polyarticular arthritis	An arthritis affecting five or more separate joints.	DOVES_relaxed.owl
MONDO:0043152	biolink:NamedThing	negative rheumatoid factor polyarthritis		DOVES_relaxed.owl
MONDO:0043240	biolink:NamedThing	hemophilic arthropathy	A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space.	DOVES_relaxed.owl
MONDO:0001317	biolink:NamedThing	phlyctenulosis		DOVES_relaxed.owl
MONDO:0001440	biolink:NamedThing	neurotrophic keratoconjunctivitis		DOVES_relaxed.owl
MONDO:0001466	biolink:NamedThing	punctate epithelial keratoconjunctivitis		DOVES_relaxed.owl
MONDO:0004794	biolink:NamedThing	exposure keratitis		DOVES_relaxed.owl
MONDO:0001319	biolink:NamedThing	bladder lateral wall cancer		DOVES_relaxed.owl
MONDO:0001372	biolink:NamedThing	bladder neck cancer	A malignant neoplasm involving the neck of urinary bladder.	DOVES_relaxed.owl
MONDO:0001373	biolink:NamedThing	urinary bladder posterior wall cancer		DOVES_relaxed.owl
MONDO:0001376	biolink:NamedThing	urinary bladder anterior wall cancer		DOVES_relaxed.owl
MONDO:0001378	biolink:NamedThing	urachus cancer	A malignant neoplasm involving the urachus.	DOVES_relaxed.owl
MONDO:0001380	biolink:NamedThing	bladder dome cancer	Cancer of the upper, convex surface of the bladder.	DOVES_relaxed.owl
MONDO:0004986	biolink:NamedThing	urinary bladder carcinoma	A carcinoma that arises from epithelial cells of the urinary bladder	DOVES_relaxed.owl
MONDO:0001320	biolink:NamedThing	ring staphyloma		DOVES_relaxed.owl
MONDO:0001439	biolink:NamedThing	episcleritis periodica fugax		DOVES_relaxed.owl
MONDO:0001718	biolink:NamedThing	scleritis	Inflammation of the sclera.	DOVES_relaxed.owl
MONDO:0001799	biolink:NamedThing	localized anterior staphyloma		DOVES_relaxed.owl
MONDO:0001800	biolink:NamedThing	equatorial staphyloma		DOVES_relaxed.owl
MONDO:0001801	biolink:NamedThing	staphyloma posticum		DOVES_relaxed.owl
MONDO:0004170	biolink:NamedThing	nodular episcleritis		DOVES_relaxed.owl
MONDO:0001322	biolink:NamedThing	pericardium cancer	A malignant neoplasm involving the pericardium.	DOVES_relaxed.owl
MONDO:0001340	biolink:NamedThing	heart cancer	A malignant neoplasm involving the heart	DOVES_relaxed.owl
MONDO:0003687	biolink:NamedThing	endocardium cancer	A malignant neoplasm involving the endocardium.	DOVES_relaxed.owl
MONDO:0004749	biolink:NamedThing	myocardium cancer	A malignant neoplasm involving the myocardium.	DOVES_relaxed.owl
MONDO:0004432	biolink:NamedThing	mature pericardial teratoma	A benign teratoma that arises from the pericardium.	DOVES_relaxed.owl
MONDO:0021379	biolink:NamedThing	neoplasm of epicardium	A neoplasm (disease) that involves the epicardium.	DOVES_relaxed.owl
MONDO:0001323	biolink:NamedThing	infant gynecomastia	Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen.	DOVES_relaxed.owl
MONDO:0001571	biolink:NamedThing	gynecomastia disorder	Development of breast tissue in males.	DOVES_relaxed.owl
MONDO:0006361	biolink:NamedThing	penile fibromatosis	Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect.	DOVES_relaxed.owl
MONDO:0001327	biolink:NamedThing	pelvic muscle wasting		DOVES_relaxed.owl
MONDO:0001514	biolink:NamedThing	prolapse of urethra	Prolapse of the urethral mucosa from the exterior urethral opening.	DOVES_relaxed.owl
MONDO:0001559	biolink:NamedThing	perineocele		DOVES_relaxed.owl
MONDO:0001885	biolink:NamedThing	lateral cystocele		DOVES_relaxed.owl
MONDO:0001886	biolink:NamedThing	midline cystocele		DOVES_relaxed.owl
MONDO:0001328	biolink:NamedThing	thyroid hormone resistance syndrome	An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine.	DOVES_relaxed.owl
MONDO:0003366	biolink:NamedThing	hydrarthrosis	Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0003627	biolink:NamedThing	rheumatic pulmonary valve disease	A rheumatologic disorder that involves the pulmonary valve.	DOVES_relaxed.owl
MONDO:0005854	biolink:NamedThing	mixed connective tissue disease	Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms.	DOVES_relaxed.owl
MONDO:0016367	biolink:NamedThing	dermatomyositis	Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.	DOVES_relaxed.owl
MONDO:0016666	biolink:NamedThing	unexplained long-lasting fever/inflammatory syndrome		DOVES_relaxed.owl
MONDO:0016822	biolink:NamedThing	myalgia-eosinophilia syndrome associated with tryptophan	A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.	DOVES_relaxed.owl
MONDO:0017767	biolink:NamedThing	rheumatic fever	A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.	DOVES_relaxed.owl
MONDO:0018015	biolink:NamedThing	intermittent hydrarthrosis		DOVES_relaxed.owl
MONDO:0018783	biolink:NamedThing	fibroblastic rheumatism		DOVES_relaxed.owl
MONDO:0019199	biolink:NamedThing	interstitial granulomatous dermatitis with arthritis	Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes.	DOVES_relaxed.owl
MONDO:0020477	biolink:NamedThing	progeria-associated arthropathy		DOVES_relaxed.owl
MONDO:0044355	biolink:NamedThing	isolated sternocostoclavicular hyperostosis	Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.	DOVES_relaxed.owl
MONDO:0007610	biolink:NamedThing	gingival fibromatosis-hypertrichosis syndrome	Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.	DOVES_relaxed.owl
MONDO:0007693	biolink:NamedThing	hypertrichosis cubiti-short stature syndrome	Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.	DOVES_relaxed.owl
MONDO:0008894	biolink:NamedThing	cataract-hypertrichosis-intellectual disability syndrome	Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.	DOVES_relaxed.owl
MONDO:0009405	biolink:NamedThing	cervical hypertrichosis-peripheral neuropathy syndrome	Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.	DOVES_relaxed.owl
MONDO:0010887	biolink:NamedThing	isolated anterior cervical hypertrichosis	Anterior cervical hypertrichosis is a rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood.	DOVES_relaxed.owl
MONDO:0016380	biolink:NamedThing	acquired hypertrichosis lanuginosa	Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.	DOVES_relaxed.owl
MONDO:0016381	biolink:NamedThing	hypertrichosis lanuginosa congenita	Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.	DOVES_relaxed.owl
MONDO:0018777	biolink:NamedThing	autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome		DOVES_relaxed.owl
MONDO:0019940	biolink:NamedThing	hypertrichosis-acromegaloid facial appearance syndrome	Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type.	DOVES_relaxed.owl
MONDO:0011107	biolink:NamedThing	congenital hypotrichosis with juvenile macular dystrophy	A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.	DOVES_relaxed.owl
MONDO:0013017	biolink:NamedThing	hypotrichosis 5	A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3.	DOVES_relaxed.owl
MONDO:0014390	biolink:NamedThing	hypotrichosis 13	Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.	DOVES_relaxed.owl
MONDO:0018631	biolink:NamedThing	Marie Unna hereditary hypotrichosis	A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.	DOVES_relaxed.owl
MONDO:0021979	biolink:NamedThing	Basaran Yilmaz syndrome	A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region.	DOVES_relaxed.owl
MONDO:0022841	biolink:NamedThing	congenital hypotrichosis milia		DOVES_relaxed.owl
MONDO:0032649	biolink:NamedThing	hypotrichosis 14		DOVES_relaxed.owl
MONDO:0015308	biolink:NamedThing	laminopathy type Decaudain-Vigouroux	Laminopathy, type Decaudain-Vigouroux is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness.	DOVES_relaxed.owl
MONDO:0015902	biolink:NamedThing	major hypertriglyceridemia	Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential.	DOVES_relaxed.owl
MONDO:0015903	biolink:NamedThing	hyperalphalipoproteinemia	An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.	DOVES_relaxed.owl
MONDO:0001337	biolink:NamedThing	inflamed seborrheic keratosis		DOVES_relaxed.owl
MONDO:0006563	biolink:NamedThing	inverted follicular keratosis	Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies.	DOVES_relaxed.owl
MONDO:0006579	biolink:NamedThing	melanoacanthoma	A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes.	DOVES_relaxed.owl
MONDO:0006622	biolink:NamedThing	vulvar seborrheic keratosis	A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation.	DOVES_relaxed.owl
MONDO:0001787	biolink:NamedThing	hepatic infarction		DOVES_relaxed.owl
MONDO:0001788	biolink:NamedThing	nutmeg liver		DOVES_relaxed.owl
MONDO:0002387	biolink:NamedThing	liver angiosarcoma	A malignant vascular neoplasm arising from the liver.	DOVES_relaxed.owl
MONDO:0004717	biolink:NamedThing	peliosis hepatis	A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs.	DOVES_relaxed.owl
MONDO:0005080	biolink:NamedThing	portal hypertension	Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly.	DOVES_relaxed.owl
MONDO:0006786	biolink:NamedThing	hepatic vein thrombosis	A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon.	DOVES_relaxed.owl
MONDO:0010947	biolink:NamedThing	Budd-Chiari syndrome	Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.	DOVES_relaxed.owl
MONDO:0019514	biolink:NamedThing	hepatic veno-occlusive disease	Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins.	DOVES_relaxed.owl
MONDO:0035357	biolink:NamedThing	portosinusoidal vascular disease		DOVES_relaxed.owl
MONDO:0002095	biolink:NamedThing	vascular cancer	A malignant neoplasm arising from the blood vessels.	DOVES_relaxed.owl
MONDO:0006094	biolink:NamedThing	Askin tumor	A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma.	DOVES_relaxed.owl
MONDO:0021323	biolink:NamedThing	malignant neoplasm of chest wall	A cancer that involves the chest wall.	DOVES_relaxed.owl
MONDO:0003743	biolink:NamedThing	heart malignant hemangiopericytoma	A malignant hemangiopericytoma arising in the heart.	DOVES_relaxed.owl
MONDO:0019493	biolink:NamedThing	primary adult heart tumor	Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms).	DOVES_relaxed.owl
MONDO:0019494	biolink:NamedThing	primary pediatric heart tumor	Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.	DOVES_relaxed.owl
MONDO:0020589	biolink:NamedThing	cardiac germ cell tumor	A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors.	DOVES_relaxed.owl
MONDO:0021378	biolink:NamedThing	neoplasm of endocardium	A neoplasm (disease) that involves the endocardium.	DOVES_relaxed.owl
MONDO:0021380	biolink:NamedThing	neoplasm of myocardium	A neoplasm (disease) that involves the myocardium.	DOVES_relaxed.owl
MONDO:0001341	biolink:NamedThing	selective IgA deficiency disease	A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders.	DOVES_relaxed.owl
MONDO:0001342	biolink:NamedThing	dysgammaglobulinemia	An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins.	DOVES_relaxed.owl
MONDO:0003738	biolink:NamedThing	selective IgE deficiency disease	A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases.	DOVES_relaxed.owl
MONDO:0018039	biolink:NamedThing	selective IgM deficiency	Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement.	DOVES_relaxed.owl
MONDO:0045045	biolink:NamedThing	selective IgG immunodeficiency	A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity.	DOVES_relaxed.owl
MONDO:0004165	biolink:NamedThing	selective IgD deficiency disease	A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection.	DOVES_relaxed.owl
MONDO:0016106	biolink:NamedThing	progressive muscular dystrophy		DOVES_relaxed.owl
MONDO:0008116	biolink:NamedThing	oculopharyngeal muscular dystrophy	Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.	DOVES_relaxed.owl
MONDO:0014800	biolink:NamedThing	progressive scapulohumeroperoneal distal myopathy		DOVES_relaxed.owl
MONDO:0016899	biolink:NamedThing	Duchenne and Becker muscular dystrophy	Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.	DOVES_relaxed.owl
MONDO:0016971	biolink:NamedThing	limb-girdle muscular dystrophy	Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.	DOVES_relaxed.owl
MONDO:0018759	biolink:NamedThing	childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome		DOVES_relaxed.owl
MONDO:0025193	biolink:NamedThing	oculopharyngodistal myopathy	Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.	DOVES_relaxed.owl
MONDO:0001350	biolink:NamedThing	parametrium malignant neoplasm	A malignant neoplasm involving the parametrium.	DOVES_relaxed.owl
MONDO:0002178	biolink:NamedThing	placenta cancer	A malignant neoplasm involving the placenta.	DOVES_relaxed.owl
MONDO:0005213	biolink:NamedThing	uterine carcinoma	A carcinoma involving a uterus.	DOVES_relaxed.owl
MONDO:0006485	biolink:NamedThing	uterine carcinosarcoma	A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma.	DOVES_relaxed.owl
MONDO:0011962	biolink:NamedThing	endometrial cancer	Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity).	DOVES_relaxed.owl
MONDO:0002113	biolink:NamedThing	peritoneal carcinoma	A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement.	DOVES_relaxed.owl
MONDO:0003017	biolink:NamedThing	malignant peritoneal solitary fibrous tumor	A malignant form of peritoneal solitary fibrous tumor.	DOVES_relaxed.owl
MONDO:0005512	biolink:NamedThing	malignant peritoneal mesothelioma	An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites.	DOVES_relaxed.owl
MONDO:0001353	biolink:NamedThing	Bordetella parapertussis infectious disease	Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough.	DOVES_relaxed.owl
MONDO:0037872	biolink:NamedThing	bordetellosis	Any disease caused by infection with organisms of the genus Bordetella.	DOVES_relaxed.owl
MONDO:0001436	biolink:NamedThing	hemosiderosis	Accumulation of iron in internal organs.	DOVES_relaxed.owl
MONDO:0001358	biolink:NamedThing	bronchial disorder	A disease involving the bronchus.	DOVES_relaxed.owl
MONDO:0001360	biolink:NamedThing	blind hypotensive eye		DOVES_relaxed.owl
MONDO:0001503	biolink:NamedThing	primary eye hypotony		DOVES_relaxed.owl
MONDO:0001361	biolink:NamedThing	spontaneous ocular nystagmus	Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)	DOVES_relaxed.owl
MONDO:0004843	biolink:NamedThing	pathologic nystagmus	Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders.	DOVES_relaxed.owl
MONDO:0001655	biolink:NamedThing	dissociated nystagmus		DOVES_relaxed.owl
MONDO:0001364	biolink:NamedThing	regular astigmatism		DOVES_relaxed.owl
MONDO:0001831	biolink:NamedThing	irregular astigmatism		DOVES_relaxed.owl
MONDO:0003648	biolink:NamedThing	tympanic membrane disorder	A disease involving the tympanic membrane.	DOVES_relaxed.owl
MONDO:0004866	biolink:NamedThing	eustachian tube disorder	A disease involving the pharyngotympanic tube.	DOVES_relaxed.owl
MONDO:0006533	biolink:NamedThing	cholesteatoma of middle ear	A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear.	DOVES_relaxed.owl
MONDO:0021366	biolink:NamedThing	neoplasm of middle ear	A neoplasm (disease) that involves the middle ear.	DOVES_relaxed.owl
MONDO:0001366	biolink:NamedThing	splenic sequestration		DOVES_relaxed.owl
MONDO:0005967	biolink:NamedThing	splenic tuberculosis	Infection of the spleen with species of mycobacterium.	DOVES_relaxed.owl
MONDO:0006795	biolink:NamedThing	hypersplenism	Overactive functioning of the spleen, resulting in excessive destruction of blood cells.	DOVES_relaxed.owl
MONDO:0037251	biolink:NamedThing	congestive splenomegaly		DOVES_relaxed.owl
MONDO:0042963	biolink:NamedThing	wandering spleen	A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly.	DOVES_relaxed.owl
MONDO:0001367	biolink:NamedThing	chronic congestive splenomegaly	Chronic form of congestive splenomegaly.	DOVES_relaxed.owl
MONDO:0001368	biolink:NamedThing	phthisical cornea		DOVES_relaxed.owl
MONDO:0001983	biolink:NamedThing	peripheral degeneration of cornea		DOVES_relaxed.owl
MONDO:0002449	biolink:NamedThing	nodular degeneration of cornea		DOVES_relaxed.owl
MONDO:0041154	biolink:NamedThing	disorder of neck of urinary bladder		DOVES_relaxed.owl
MONDO:0001375	biolink:NamedThing	bladder trigone cancer	A malignant neoplasm involving the trigone of urinary bladder.	DOVES_relaxed.owl
MONDO:0001379	biolink:NamedThing	ureteric orifice cancer	A malignant neoplasm involving the ureteral orifice.	DOVES_relaxed.owl
MONDO:0004860	biolink:NamedThing	vitreous disorder	A disease involving the vitreous humor.	DOVES_relaxed.owl
MONDO:0007017	biolink:NamedThing	vitreous detachment	Detachment of the vitreous humor from the retina.	DOVES_relaxed.owl
MONDO:0006481	biolink:NamedThing	ureter carcinoma	A carcinoma that arises from epithelial cells of the ureter.	DOVES_relaxed.owl
MONDO:0008053	biolink:NamedThing	myopia 2, autosomal dominant		DOVES_relaxed.owl
MONDO:0009713	biolink:NamedThing	myopia 18, autosomal recessive		DOVES_relaxed.owl
MONDO:0010377	biolink:NamedThing	myopia 13, X-linked		DOVES_relaxed.owl
MONDO:0010685	biolink:NamedThing	myopia 1, X-linked		DOVES_relaxed.owl
MONDO:0011300	biolink:NamedThing	myopia 3, autosomal dominant		DOVES_relaxed.owl
MONDO:0012021	biolink:NamedThing	myopia 17, autosomal dominant		DOVES_relaxed.owl
MONDO:0012045	biolink:NamedThing	myopia 5, autosomal dominant		DOVES_relaxed.owl
MONDO:0012154	biolink:NamedThing	myopia 6	Any myopia in which the cause of the disease is a mutation in the SCO2 gene.	DOVES_relaxed.owl
MONDO:0012227	biolink:NamedThing	myopia 7		DOVES_relaxed.owl
MONDO:0012228	biolink:NamedThing	myopia 8		DOVES_relaxed.owl
MONDO:0012229	biolink:NamedThing	myopia 9		DOVES_relaxed.owl
MONDO:0012230	biolink:NamedThing	myopia 10		DOVES_relaxed.owl
MONDO:0012388	biolink:NamedThing	myopia 11, autosomal dominant		DOVES_relaxed.owl
MONDO:0012389	biolink:NamedThing	myopia 12, autosomal dominant		DOVES_relaxed.owl
MONDO:0012469	biolink:NamedThing	myopia 14		DOVES_relaxed.owl
MONDO:0012932	biolink:NamedThing	myopia 16, autosomal dominant		DOVES_relaxed.owl
MONDO:0012995	biolink:NamedThing	myopia 15, autosomal dominant		DOVES_relaxed.owl
MONDO:0013506	biolink:NamedThing	schizophrenia 16	A schizophrenia that has material basis in a mutation on chromosome 7q36.3.	DOVES_relaxed.owl
MONDO:0013508	biolink:NamedThing	myopia 19, autosomal dominant		DOVES_relaxed.owl
MONDO:0013603	biolink:NamedThing	myopia 20, autosomal dominant		DOVES_relaxed.owl
MONDO:0013604	biolink:NamedThing	myopia 21, autosomal dominant	Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene.	DOVES_relaxed.owl
MONDO:0013670	biolink:NamedThing	myopia, high, with cataract and vitreoretinal degeneration		DOVES_relaxed.owl
MONDO:0014177	biolink:NamedThing	myopia 22, autosomal dominant		DOVES_relaxed.owl
MONDO:0014183	biolink:NamedThing	myopia 23, autosomal recessive		DOVES_relaxed.owl
MONDO:0014411	biolink:NamedThing	myopia 24, autosomal dominant		DOVES_relaxed.owl
MONDO:0014982	biolink:NamedThing	myopia 25, autosomal dominant	Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene.	DOVES_relaxed.owl
MONDO:0030697	biolink:NamedThing	myopia 28, autosomal recessive		DOVES_relaxed.owl
MONDO:0032941	biolink:NamedThing	myopia 27		DOVES_relaxed.owl
MONDO:0049221	biolink:NamedThing	myopia 26, X-linked, female-limited		DOVES_relaxed.owl
MONDO:0001385	biolink:NamedThing	cortical blindness	Visual impairment due to visual cortex dysfunction.	DOVES_relaxed.owl
MONDO:0043310	biolink:NamedThing	amaurosis fugax	Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)	DOVES_relaxed.owl
MONDO:0003584	biolink:NamedThing	visual cortex disorder	A disease involving the visual cortex.	DOVES_relaxed.owl
MONDO:0001386	biolink:NamedThing	visual epilepsy	Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.'	DOVES_relaxed.owl
MONDO:0017768	biolink:NamedThing	reflex epilepsy	Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).	DOVES_relaxed.owl
MONDO:0002340	biolink:NamedThing	tactile epilepsy		DOVES_relaxed.owl
MONDO:0007560	biolink:NamedThing	reading seizures		DOVES_relaxed.owl
MONDO:0015644	biolink:NamedThing	audiogenic seizures	Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).	DOVES_relaxed.owl
MONDO:0015645	biolink:NamedThing	eating seizures		DOVES_relaxed.owl
MONDO:0015646	biolink:NamedThing	orgasm-induced seizures	Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.	DOVES_relaxed.owl
MONDO:0015647	biolink:NamedThing	thinking seizures	Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.	DOVES_relaxed.owl
MONDO:0015648	biolink:NamedThing	startle epilepsy	Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.	DOVES_relaxed.owl
MONDO:0015649	biolink:NamedThing	micturation-induced seizures	Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.	DOVES_relaxed.owl
MONDO:0001388	biolink:NamedThing	glans penis cancer	A malignant neoplasm involving the glans penis.	DOVES_relaxed.owl
MONDO:0004504	biolink:NamedThing	penile urethral cancer	A urethra cancer that involves the penis.	DOVES_relaxed.owl
MONDO:0006360	biolink:NamedThing	penile carcinoma	A carcinoma that arises from epithelial cells of the penis	DOVES_relaxed.owl
MONDO:0005356	biolink:NamedThing	coronary vasospasm	Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow.	DOVES_relaxed.owl
MONDO:0005436	biolink:NamedThing	postoperative ventricular dysfunction	Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality.	DOVES_relaxed.owl
MONDO:0006714	biolink:NamedThing	coronary aneurysm	Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease.	DOVES_relaxed.owl
MONDO:0006715	biolink:NamedThing	coronary stenosis	Narrowing of the coronary artery lumen diameter.	DOVES_relaxed.owl
MONDO:0006805	biolink:NamedThing	intermediate coronary syndrome	Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest.	DOVES_relaxed.owl
MONDO:0001391	biolink:NamedThing	indeterminate leprosy	A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.	DOVES_relaxed.owl
MONDO:0005125	biolink:NamedThing	borderline leprosy	A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms.	DOVES_relaxed.owl
MONDO:0005126	biolink:NamedThing	tuberculoid leprosy	A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others.	DOVES_relaxed.owl
MONDO:0005127	biolink:NamedThing	lepromatous leprosy	A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage.	DOVES_relaxed.owl
MONDO:0041751	biolink:NamedThing	multibacillary leprosy	A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response.	DOVES_relaxed.owl
MONDO:0041752	biolink:NamedThing	paucibacillary leprosy	A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response.	DOVES_relaxed.owl
MONDO:0001393	biolink:NamedThing	peripheral focal chorioretinitis		DOVES_relaxed.owl
MONDO:0001395	biolink:NamedThing	macular keratitis		DOVES_relaxed.owl
MONDO:0001465	biolink:NamedThing	superficial keratitis		DOVES_relaxed.owl
MONDO:0001760	biolink:NamedThing	photokeratitis	Injury to the cornea secondary to ultraviolet light.	DOVES_relaxed.owl
MONDO:0001816	biolink:NamedThing	scleroperikeratitis		DOVES_relaxed.owl
MONDO:0003082	biolink:NamedThing	filamentary keratitis		DOVES_relaxed.owl
MONDO:0006713	biolink:NamedThing	corneal neovascularization	New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation.	DOVES_relaxed.owl
MONDO:0021111	biolink:NamedThing	ureter neoplasm	A benign or malignant neoplasm that affects the ureter.	DOVES_relaxed.owl
MONDO:0021390	biolink:NamedThing	polyp of ureter	A polyp that involves the ureter.	DOVES_relaxed.owl
MONDO:0001400	biolink:NamedThing	schwannoma of ureter	A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter.	DOVES_relaxed.owl
MONDO:0004044	biolink:NamedThing	ureter urothelial papilloma	A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter.	DOVES_relaxed.owl
MONDO:0003168	biolink:NamedThing	cerebellar pilocytic astrocytoma	A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis.	DOVES_relaxed.owl
MONDO:0004820	biolink:NamedThing	peripheral nerve schwannoma	A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported.	DOVES_relaxed.owl
MONDO:0003926	biolink:NamedThing	neurilemmoma of the pleura	A schwannoma that involves the pleura.	DOVES_relaxed.owl
MONDO:0003980	biolink:NamedThing	schwannoma of jugular foramen	A rare intracranial schwannoma that affects the jugular foramen.	DOVES_relaxed.owl
MONDO:0056804	biolink:NamedThing	benign neoplasm of peripheral nervous system		DOVES_relaxed.owl
MONDO:0003154	biolink:NamedThing	hemangioma of peripheral nerve	A hemangioma arising from the peripheral nerves.	DOVES_relaxed.owl
MONDO:0003250	biolink:NamedThing	benign granular cell tumor	A granular cell tumor that is confined to the site of origin, without metastatic potential.	DOVES_relaxed.owl
MONDO:0006103	biolink:NamedThing	benign adrenal gland pheochromocytoma	A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral.	DOVES_relaxed.owl
MONDO:0037739	biolink:NamedThing	benign neoplasm of cauda equina	A benign neoplasm that involves the cauda equina.	DOVES_relaxed.owl
MONDO:0001401	biolink:NamedThing	female breast nipple and areola cancer		DOVES_relaxed.owl
MONDO:0004379	biolink:NamedThing	female breast carcinoma	A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females.	DOVES_relaxed.owl
MONDO:0001805	biolink:NamedThing	female breast central part cancer		DOVES_relaxed.owl
MONDO:0001850	biolink:NamedThing	female breast lower-outer quadrant cancer		DOVES_relaxed.owl
MONDO:0002067	biolink:NamedThing	female breast upper-inner quadrant cancer		DOVES_relaxed.owl
MONDO:0002068	biolink:NamedThing	female breast lower-inner quadrant cancer		DOVES_relaxed.owl
MONDO:0002069	biolink:NamedThing	female breast axillary tail cancer	A cancer that involves the UBERON:0035289.	DOVES_relaxed.owl
MONDO:0004878	biolink:NamedThing	female breast upper-outer quadrant cancer		DOVES_relaxed.owl
MONDO:0002991	biolink:NamedThing	adenocarcinofibroma	A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma.	DOVES_relaxed.owl
MONDO:0005636	biolink:NamedThing	adenosarcoma	A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites.	DOVES_relaxed.owl
MONDO:0020550	biolink:NamedThing	gestational choriocarcinoma	Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole.	DOVES_relaxed.owl
MONDO:0001403	biolink:NamedThing	labium majus cancer	A malignant neoplasm involving the labium majora.	DOVES_relaxed.owl
MONDO:0001526	biolink:NamedThing	labia minora cancer	A malignant neoplasm that affects the labia minora.	DOVES_relaxed.owl
MONDO:0001869	biolink:NamedThing	paraurethral gland cancer	A malignant neoplasm involving the paraurethral gland.	DOVES_relaxed.owl
MONDO:0002290	biolink:NamedThing	clitoris cancer	A malignant neoplasm that affects the clitoris.	DOVES_relaxed.owl
MONDO:0005215	biolink:NamedThing	vulvar carcinoma	A carcinoma that arises from epithelial cells of the mammalian vulva	DOVES_relaxed.owl
MONDO:0002898	biolink:NamedThing	skin cancer	A malignant neoplasm involving the zone of skin	DOVES_relaxed.owl
MONDO:0002206	biolink:NamedThing	sweat gland cancer	A malignant neoplasm that affects the sweat glands.	DOVES_relaxed.owl
MONDO:0002293	biolink:NamedThing	cutaneous ganglioneuroma	A ganglioneuroma arising from the skin.	DOVES_relaxed.owl
MONDO:0002656	biolink:NamedThing	skin carcinoma	A carcinoma that arises from epithelial cells of the zone of skin	DOVES_relaxed.owl
MONDO:0003363	biolink:NamedThing	malignant dermis tumor	A malignant neoplasm involving the dermis.	DOVES_relaxed.owl
MONDO:0037735	biolink:NamedThing	sebaceous gland cancer	A cancer that involves the sebaceous gland.	DOVES_relaxed.owl
MONDO:0001404	biolink:NamedThing	ecthyma	An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0021210	biolink:NamedThing	trachea neoplasm	A neoplasm (disease) that involves the trachea.	DOVES_relaxed.owl
MONDO:0001410	biolink:NamedThing	postmenopausal atrophic vaginitis	Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause.	DOVES_relaxed.owl
MONDO:0007019	biolink:NamedThing	vulvovaginitis	An inflammatory pathologic process that affects the vulva and the vagina.	DOVES_relaxed.owl
MONDO:0001412	biolink:NamedThing	conjunctival concretion		DOVES_relaxed.owl
MONDO:0006537	biolink:NamedThing	conjunctival pigmentation	Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron.	DOVES_relaxed.owl
MONDO:0001414	biolink:NamedThing	osteopoikilosis	A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones.	DOVES_relaxed.owl
MONDO:0007396	biolink:NamedThing	dysostosis, Stanescu type	Stanescu type dysostosis is a rare form of osteosclerosis.	DOVES_relaxed.owl
MONDO:0001420	biolink:NamedThing	trigeminal nerve neoplasm	Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure.	DOVES_relaxed.owl
MONDO:0002633	biolink:NamedThing	cranial nerve neoplasm	Abnormal growth of the cells that comprise the cranial nerves.	DOVES_relaxed.owl
MONDO:0001884	biolink:NamedThing	abducens nerve neoplasm	A neoplasm involving a abducens nerve.	DOVES_relaxed.owl
MONDO:0002101	biolink:NamedThing	facial nerve neoplasm	A neoplasm involving a facial nerve.	DOVES_relaxed.owl
MONDO:0002550	biolink:NamedThing	hypoglossal nerve neoplasm	A neoplasm involving a hypoglossal nerve.	DOVES_relaxed.owl
MONDO:0002626	biolink:NamedThing	spinal accessory nerve neoplasm	A neoplasm involving a accessory XI nerve spinal component.	DOVES_relaxed.owl
MONDO:0002638	biolink:NamedThing	glossopharyngeal nerve neoplasm	A neoplasm involving a glossopharyngeal nerve.	DOVES_relaxed.owl
MONDO:0021221	biolink:NamedThing	vestibulocochlear nerve neoplasm	A neoplasm (disease) that involves the vestibulocochlear nerve.	DOVES_relaxed.owl
MONDO:0015530	biolink:NamedThing	trigeminal autonomic cephalalgia	A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms.	DOVES_relaxed.owl
MONDO:0001421	biolink:NamedThing	frontal lobe neoplasm	A neoplasm involving a frontal lobe.	DOVES_relaxed.owl
MONDO:0004709	biolink:NamedThing	occipital lobe neoplasm	A neoplasm involving a occipital lobe.	DOVES_relaxed.owl
MONDO:0021372	biolink:NamedThing	neoplasm of temporal lobe	A neoplasm (disease) that involves the temporal lobe.	DOVES_relaxed.owl
MONDO:0021373	biolink:NamedThing	neoplasm of parietal lobe	A neoplasm (disease) that involves the parietal lobe.	DOVES_relaxed.owl
MONDO:0021497	biolink:NamedThing	benign neoplasm of cerebrum	A benign neoplasm that involves the telencephalon.	DOVES_relaxed.owl
MONDO:0021633	biolink:NamedThing	cerebral astrocytoma	An astrocytoma that arises from the cerebral hemispheres.	DOVES_relaxed.owl
MONDO:0001422	biolink:NamedThing	primary aldosteronism	An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache.	DOVES_relaxed.owl
MONDO:0001473	biolink:NamedThing	medulloadrenal hyperfunction		DOVES_relaxed.owl
MONDO:0006077	biolink:NamedThing	adrenal medullary hyperplasia	A hyperplasia that involves the adrenal medulla.	DOVES_relaxed.owl
MONDO:0006909	biolink:NamedThing	pituitary dwarfism	Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone.	DOVES_relaxed.owl
MONDO:0008211	biolink:NamedThing	pseudoleprechaunism syndrome, Patterson type	Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.	DOVES_relaxed.owl
MONDO:0009025	biolink:NamedThing	apparent mineralocorticoid excess	Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.	DOVES_relaxed.owl
MONDO:0009411	biolink:NamedThing	autoimmune polyendocrine syndrome type 1	Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.	DOVES_relaxed.owl
MONDO:0010288	biolink:NamedThing	adrenomyodystrophy	Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.	DOVES_relaxed.owl
MONDO:0012675	biolink:NamedThing	corticosteroid-binding globulin deficiency	Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists.	DOVES_relaxed.owl
MONDO:0013400	biolink:NamedThing	Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.	DOVES_relaxed.owl
MONDO:0015128	biolink:NamedThing	primary adrenal insufficiency	A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary.	DOVES_relaxed.owl
MONDO:0015900	biolink:NamedThing	hypoaldosteronism disease		DOVES_relaxed.owl
MONDO:0017366	biolink:NamedThing	hereditary pheochromocytoma-paraganglioma	Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas).	DOVES_relaxed.owl
MONDO:0018544	biolink:NamedThing	adrenoleukodystrophy	A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.	DOVES_relaxed.owl
MONDO:0043472	biolink:NamedThing	ectopic ACTH secretion syndrome	A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)	DOVES_relaxed.owl
MONDO:0016755	biolink:NamedThing	neurofibroma	An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.	DOVES_relaxed.owl
MONDO:0002383	biolink:NamedThing	Pacinian tumor	A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles.	DOVES_relaxed.owl
MONDO:0002675	biolink:NamedThing	neurofibrosarcoma	A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)	DOVES_relaxed.owl
MONDO:0003302	biolink:NamedThing	epithelioid neurofibroma	A rare neurofibroma with epithelioid morphology.	DOVES_relaxed.owl
MONDO:0003304	biolink:NamedThing	plexiform neurofibroma	An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)	DOVES_relaxed.owl
MONDO:0003305	biolink:NamedThing	cellular neurofibroma	A neurofibroma characterized by the presence of areas with increased cellularity.	DOVES_relaxed.owl
MONDO:0003306	biolink:NamedThing	atypical neurofibroma	A neurofibroma characterized by the presence of cellular pleomorphism.	DOVES_relaxed.owl
MONDO:0004837	biolink:NamedThing	neurofibroma of the esophagus	A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells.	DOVES_relaxed.owl
MONDO:0001429	biolink:NamedThing	transient arthropathy	Arthropathy that is not permanent.	DOVES_relaxed.owl
MONDO:0001468	biolink:NamedThing	synovial plica syndrome		DOVES_relaxed.owl
MONDO:0001798	biolink:NamedThing	hypermobility syndrome		DOVES_relaxed.owl
MONDO:0001935	biolink:NamedThing	neurogenic arthropathy	Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0002074	biolink:NamedThing	Behcet syndrome arthropathy	Arthropathy resulting from Behcet's syndrome.	DOVES_relaxed.owl
MONDO:0002257	biolink:NamedThing	ankylosis	Fixation and immobility of a joint.	DOVES_relaxed.owl
MONDO:0002528	biolink:NamedThing	synovium neoplasm	A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath.	DOVES_relaxed.owl
MONDO:0003816	biolink:NamedThing	articular cartilage disorder	A disease involving the articular cartilage of joint.	DOVES_relaxed.owl
MONDO:0004431	biolink:NamedThing	hemarthrosis	Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia.	DOVES_relaxed.owl
MONDO:0004874	biolink:NamedThing	ganglion or cyst of synovium/tendon/bursa		DOVES_relaxed.owl
MONDO:0005473	biolink:NamedThing	temporomandibular joint disorder	Any condition affecting the anatomic and functional characteristics of the temporomandibular joint.	DOVES_relaxed.owl
MONDO:0006721	biolink:NamedThing	de Quervain disease	Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis.	DOVES_relaxed.owl
MONDO:0006894	biolink:NamedThing	patellofemoral pain syndrome	A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome.	DOVES_relaxed.owl
MONDO:0006965	biolink:NamedThing	secondary hypertrophic osteoarthropathy	Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0006968	biolink:NamedThing	shoulder impingement syndrome	Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)	DOVES_relaxed.owl
MONDO:0022208	biolink:NamedThing	crystal arthropathy		DOVES_relaxed.owl
MONDO:0001430	biolink:NamedThing	deep corneal vascularisation		DOVES_relaxed.owl
MONDO:0001431	biolink:NamedThing	toxic or nutritional optic neuropathy	A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency.	DOVES_relaxed.owl
MONDO:0001688	biolink:NamedThing	toxic optic neuropathy		DOVES_relaxed.owl
MONDO:0024335	biolink:NamedThing	retrobulbar neuritis		DOVES_relaxed.owl
MONDO:0001434	biolink:NamedThing	inflammatory spondylopathy		DOVES_relaxed.owl
MONDO:0005306	biolink:NamedThing	ankylosing spondylitis	An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine.	DOVES_relaxed.owl
MONDO:0001435	biolink:NamedThing	bullous retinoschisis		DOVES_relaxed.owl
MONDO:0004579	biolink:NamedThing	retinoschisis	An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision.	DOVES_relaxed.owl
MONDO:0004578	biolink:NamedThing	flat retinoschisis		DOVES_relaxed.owl
MONDO:0009988	biolink:NamedThing	retinoschisis of fovea		DOVES_relaxed.owl
MONDO:0010725	biolink:NamedThing	X-linked retinoschisis	A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.	DOVES_relaxed.owl
MONDO:0002279	biolink:NamedThing	iron metabolism disease	Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization.	DOVES_relaxed.owl
MONDO:0001442	biolink:NamedThing	dysthymic disorder	A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression.	DOVES_relaxed.owl
MONDO:0001485	biolink:NamedThing	atypical depressive disorder	A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection.	DOVES_relaxed.owl
MONDO:0004572	biolink:NamedThing	cyclothymic disorder	An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood.	DOVES_relaxed.owl
MONDO:0001443	biolink:NamedThing	tympanosclerosis	The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing.	DOVES_relaxed.owl
MONDO:0001547	biolink:NamedThing	atrophic nonflaccid tympanic membrane		DOVES_relaxed.owl
MONDO:0001803	biolink:NamedThing	myringitis bullosa hemorrhagica	A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.	DOVES_relaxed.owl
MONDO:0003647	biolink:NamedThing	atrophic flaccid tympanic membrane		DOVES_relaxed.owl
MONDO:0001446	biolink:NamedThing	low compliance bladder		DOVES_relaxed.owl
MONDO:0006026	biolink:NamedThing	urinary bladder disorder	A disease involving the urinary bladder.	DOVES_relaxed.owl
MONDO:0001447	biolink:NamedThing	detrusor sphincter dyssynergia		DOVES_relaxed.owl
MONDO:0004160	biolink:NamedThing	female stress incontinence	The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause.	DOVES_relaxed.owl
MONDO:0006007	biolink:NamedThing	vesicoureteral reflux	Abnormal flow of urine from the urinary bladder back into the ureters.	DOVES_relaxed.owl
MONDO:0006624	biolink:NamedThing	overactive bladder	Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present.	DOVES_relaxed.owl
MONDO:0006679	biolink:NamedThing	bladder neck obstruction	Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra.	DOVES_relaxed.owl
MONDO:0006916	biolink:NamedThing	postcholecystectomy syndrome	Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal.	DOVES_relaxed.owl
MONDO:0007009	biolink:NamedThing	ureterolithiasis	The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins.	DOVES_relaxed.owl
MONDO:0019395	biolink:NamedThing	Hinman syndrome	Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits.	DOVES_relaxed.owl
MONDO:0007015	biolink:NamedThing	viral meningitis	Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection.	DOVES_relaxed.owl
MONDO:0015304	biolink:NamedThing	arachnoiditis	Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.	DOVES_relaxed.owl
MONDO:0005676	biolink:NamedThing	borna disease	An encephalomyelitis of horses, sheep and cattle caused by borna disease virus.	DOVES_relaxed.owl
MONDO:0005769	biolink:NamedThing	geniculate herpes zoster	A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption.	DOVES_relaxed.owl
MONDO:0001451	biolink:NamedThing	peripheral retinal degeneration	Degeneration of the peripheral retina.	DOVES_relaxed.owl
MONDO:0004580	biolink:NamedThing	retinal degeneration	Degeneration of the retina.	DOVES_relaxed.owl
MONDO:0800319	biolink:NamedThing	cone dystrophy 5, X-linked		DOVES_relaxed.owl
MONDO:0800320	biolink:NamedThing	cone dystrophy 1, X-linked		DOVES_relaxed.owl
MONDO:0001452	biolink:NamedThing	pseudoretinitis pigmentosa		DOVES_relaxed.owl
MONDO:0001453	biolink:NamedThing	senile reticular retinal degeneration		DOVES_relaxed.owl
MONDO:0001454	biolink:NamedThing	Blessig's cysts		DOVES_relaxed.owl
MONDO:0001455	biolink:NamedThing	retinal lattice degeneration		DOVES_relaxed.owl
MONDO:0001456	biolink:NamedThing	cobblestone retinal degeneration		DOVES_relaxed.owl
MONDO:0001457	biolink:NamedThing	secondary vitreoretinal degeneration		DOVES_relaxed.owl
MONDO:0001458	biolink:NamedThing	ulnar nerve lesion	A peripheral nerve lesion that involves the ulnar nerve.	DOVES_relaxed.owl
MONDO:0007006	biolink:NamedThing	ulnar neuropathy	Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)	DOVES_relaxed.owl
MONDO:0043982	biolink:NamedThing	cubital tunnel syndrome	Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)	DOVES_relaxed.owl
MONDO:0001543	biolink:NamedThing	lesion of sciatic nerve	A peripheral nerve lesion that involves the sciatic nerve.	DOVES_relaxed.owl
MONDO:0006759	biolink:NamedThing	femoral neuropathy	Neuropathy of the femoral nerve.	DOVES_relaxed.owl
MONDO:0006940	biolink:NamedThing	radial nerve lesion	A peripheral nerve lesion that involves the radial nerve.	DOVES_relaxed.owl
MONDO:0001459	biolink:NamedThing	radial neuropathy	Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus.	DOVES_relaxed.owl
MONDO:0002910	biolink:NamedThing	peroneal neuropathy	Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)	DOVES_relaxed.owl
MONDO:0006960	biolink:NamedThing	sciatic neuropathy	Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)	DOVES_relaxed.owl
MONDO:0006997	biolink:NamedThing	tibial neuropathy	Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)	DOVES_relaxed.owl
MONDO:0006683	biolink:NamedThing	brachial plexus neuropathy	A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand.	DOVES_relaxed.owl
MONDO:0003598	biolink:NamedThing	median nerve neuropathy	Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome).	DOVES_relaxed.owl
MONDO:0003700	biolink:NamedThing	brachial plexus neoplasm	A neoplasm (disease) that involves the brachial nerve plexus.	DOVES_relaxed.owl
MONDO:0004569	biolink:NamedThing	brachial plexus neuropathy from injury		DOVES_relaxed.owl
MONDO:0008076	biolink:NamedThing	amyotrophic neuralgia	An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.	DOVES_relaxed.owl
MONDO:0001460	biolink:NamedThing	dyshormonogenic goiter		DOVES_relaxed.owl
MONDO:0005397	biolink:NamedThing	goiter	Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing.	DOVES_relaxed.owl
MONDO:0001658	biolink:NamedThing	nontoxic goiter	Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy.	DOVES_relaxed.owl
MONDO:0005364	biolink:NamedThing	Graves disease	Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery.	DOVES_relaxed.owl
MONDO:0006833	biolink:NamedThing	lingual goiter	Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms.	DOVES_relaxed.owl
MONDO:0006986	biolink:NamedThing	substernal goiter	An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms.	DOVES_relaxed.owl
MONDO:0001462	biolink:NamedThing	descending colon cancer	A malignant neoplasm involving the descending colon.	DOVES_relaxed.owl
MONDO:0021063	biolink:NamedThing	malignant colon neoplasm	A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.	DOVES_relaxed.owl
MONDO:0001464	biolink:NamedThing	sigmoid colon cancer	A malignant neoplasm involving the sigmoid colon.	DOVES_relaxed.owl
MONDO:0002035	biolink:NamedThing	colon lymphoma	An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas.	DOVES_relaxed.owl
MONDO:0002238	biolink:NamedThing	ascending colon cancer	A malignant neoplasm involving the ascending colon.	DOVES_relaxed.owl
MONDO:0002361	biolink:NamedThing	transverse colon cancer	A malignant neoplasm involving the transverse colon.	DOVES_relaxed.owl
MONDO:0003352	biolink:NamedThing	colon sarcoma	A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.	DOVES_relaxed.owl
MONDO:0041448	biolink:NamedThing	metastasis from malignant tumor of colon		DOVES_relaxed.owl
MONDO:0001463	biolink:NamedThing	splenic flexure cancer	A malignant neoplasm involving the splenic flexure of colon.	DOVES_relaxed.owl
MONDO:0006971	biolink:NamedThing	sigmoid neoplasm	Tumors or cancer of the sigmoid colon.	DOVES_relaxed.owl
MONDO:0002423	biolink:NamedThing	rectosigmoid junction neoplasm	A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	DOVES_relaxed.owl
MONDO:0056802	biolink:NamedThing	synovial bursa disorder	A disease or disorder that involves the synovial bursa.	DOVES_relaxed.owl
MONDO:0001470	biolink:NamedThing	anal margin squamous cell carcinoma	A squamous cell carcinoma arising from the perianal skin.	DOVES_relaxed.owl
MONDO:0002765	biolink:NamedThing	plantar verrucous skin carcinoma	A verrucous carcinoma that involves the plantar part of pes.	DOVES_relaxed.owl
MONDO:0003499	biolink:NamedThing	sarcomatoid squamous cell skin carcinoma	A squamous cell carcinoma of the skin with a prominent spindle cell component.	DOVES_relaxed.owl
MONDO:0004091	biolink:NamedThing	skin basaloid carcinoma	A basaloid squamous cell carcinoma that involves the zone of skin.	DOVES_relaxed.owl
MONDO:0004316	biolink:NamedThing	acantholytic squamous cell skin carcinoma	A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis.	DOVES_relaxed.owl
MONDO:0004469	biolink:NamedThing	pseudovascular skin squamous cell carcinoma		DOVES_relaxed.owl
MONDO:0004523	biolink:NamedThing	clear cell squamous cell skin carcinoma	A squamous cell carcinoma of the skin with a prominent clear cell component.	DOVES_relaxed.owl
MONDO:0005341	biolink:NamedThing	skin basal cell carcinoma	The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas.	DOVES_relaxed.owl
MONDO:0020760	biolink:NamedThing	skin squamous cell carcinoma in situ	Intraepidermal squamous cell carcinoma, confined to the epidermis. There is no evidence of invasion.	DOVES_relaxed.owl
MONDO:0056818	biolink:NamedThing	skin adenosquamous carcinoma	An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components.	DOVES_relaxed.owl
MONDO:0002941	biolink:NamedThing	anal margin carcinoma	A carcinoma that arises from epithelial cells of the perianal skin	DOVES_relaxed.owl
MONDO:0004337	biolink:NamedThing	perianal skin Paget disease	Paget disease involving the perianal skin.	DOVES_relaxed.owl
MONDO:0006082	biolink:NamedThing	anal squamous cell carcinoma	A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC.	DOVES_relaxed.owl
MONDO:0004130	biolink:NamedThing	anus basaloid carcinoma	An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading.	DOVES_relaxed.owl
MONDO:0004132	biolink:NamedThing	anal canal squamous cell carcinoma	A squamous cell carcinoma arising from the mucosa of the anal canal.	DOVES_relaxed.owl
MONDO:0005723	biolink:NamedThing	Cryptococcal meningitis	Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)	DOVES_relaxed.owl
MONDO:0003125	biolink:NamedThing	testicular sex cord-stromal neoplasm	A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group.	DOVES_relaxed.owl
MONDO:0003395	biolink:NamedThing	testicular granulosa cell tumor	A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile.	DOVES_relaxed.owl
MONDO:0004324	biolink:NamedThing	testicular fibroma	A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization.	DOVES_relaxed.owl
MONDO:0004325	biolink:NamedThing	testicular thecoma	A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0700037	biolink:NamedThing	testicular fibrothecoma	A rare testicular sex cord-stromal neoplasm characterized by mixed features of both fibroma and thecoma.	DOVES_relaxed.owl
MONDO:0001575	biolink:NamedThing	chronic gonococcal salpingitis	Chronic form of gonococcal salpingitis.	DOVES_relaxed.owl
MONDO:0003616	biolink:NamedThing	salpingitis isthmica nodosa	Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy.	DOVES_relaxed.owl
MONDO:0001609	biolink:NamedThing	agranulocytosis	A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood.	DOVES_relaxed.owl
MONDO:0021758	biolink:NamedThing	acquired agranulocytosis	Agranulocytosis that is autoimmune in origin.	DOVES_relaxed.owl
MONDO:0002922	biolink:NamedThing	pyoderma	Any skin disease that is pyegenic.	DOVES_relaxed.owl
MONDO:0002237	biolink:NamedThing	carbuncle	An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration.	DOVES_relaxed.owl
MONDO:0002885	biolink:NamedThing	erythrasma	A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum.	DOVES_relaxed.owl
MONDO:0018824	biolink:NamedThing	pyoderma gangrenosum	Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.	DOVES_relaxed.owl
MONDO:0020076	biolink:NamedThing	myeloproliferative neoplasm	A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)	DOVES_relaxed.owl
MONDO:0001484	biolink:NamedThing	paranoid schizophrenia	A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect.	DOVES_relaxed.owl
MONDO:0005414	biolink:NamedThing	treatment-refractory schizophrenia	Schizophrenia which does not respond to commonly used treatments.	DOVES_relaxed.owl
MONDO:0008414	biolink:NamedThing	schizophrenia 1	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.	DOVES_relaxed.owl
MONDO:0010897	biolink:NamedThing	schizophrenia 3	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.	DOVES_relaxed.owl
MONDO:0011294	biolink:NamedThing	schizophrenia 5	A schizophrenia that has material basis in a mutation on chromosome 6q13-q26.	DOVES_relaxed.owl
MONDO:0011295	biolink:NamedThing	schizophrenia 7	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32.	DOVES_relaxed.owl
MONDO:0011298	biolink:NamedThing	schizophrenia 8	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p.	DOVES_relaxed.owl
MONDO:0011307	biolink:NamedThing	schizophrenia 2	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21.	DOVES_relaxed.owl
MONDO:0011552	biolink:NamedThing	schizophrenia 10	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15.	DOVES_relaxed.owl
MONDO:0011960	biolink:NamedThing	schizophrenia 11	A schizophrenia that has material basis in a mutation on chromosome 10q22.3.	DOVES_relaxed.owl
MONDO:0012054	biolink:NamedThing	schizophrenia 12	A schizophrenia that has material basis in a mutation on chromosome 1p36.2.	DOVES_relaxed.owl
MONDO:0013498	biolink:NamedThing	schizophrenia 15	A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.	DOVES_relaxed.owl
MONDO:0013696	biolink:NamedThing	chromosome 2p16.3 deletion syndrome		DOVES_relaxed.owl
MONDO:0019939	biolink:NamedThing	early-onset schizophrenia		DOVES_relaxed.owl
MONDO:0033312	biolink:NamedThing	schizophrenia 19		DOVES_relaxed.owl
MONDO:0800358	biolink:NamedThing	schizophrenia 17		DOVES_relaxed.owl
MONDO:0001487	biolink:NamedThing	intrahepatic bile duct cancer	A cancer that involves the intrahepatic bile duct.	DOVES_relaxed.owl
MONDO:0003059	biolink:NamedThing	bile duct cancer	A malignant neoplasm involving the bile duct	DOVES_relaxed.owl
MONDO:0002862	biolink:NamedThing	bile duct sarcoma	A sarcoma that involves the bile duct.	DOVES_relaxed.owl
MONDO:0001488	biolink:NamedThing	anterior corneal pigmentation		DOVES_relaxed.owl
MONDO:0001717	biolink:NamedThing	posterior corneal pigmentation		DOVES_relaxed.owl
MONDO:0006613	biolink:NamedThing	stromal corneal pigmentation	Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium.	DOVES_relaxed.owl
MONDO:0007375	biolink:NamedThing	epithelial basement membrane dystrophy		DOVES_relaxed.owl
MONDO:0007377	biolink:NamedThing	granular corneal dystrophy type I	Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.	DOVES_relaxed.owl
MONDO:0007380	biolink:NamedThing	lattice corneal dystrophy type I	Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.	DOVES_relaxed.owl
MONDO:0011185	biolink:NamedThing	Thiel-Behnke corneal dystrophy	Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.	DOVES_relaxed.owl
MONDO:0011855	biolink:NamedThing	granular corneal dystrophy type II	Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.	DOVES_relaxed.owl
MONDO:0012043	biolink:NamedThing	Reis-Bucklers corneal dystrophy	Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.	DOVES_relaxed.owl
MONDO:0012044	biolink:NamedThing	corneal dystrophy, lattice type 3A	Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically.	DOVES_relaxed.owl
MONDO:0001491	biolink:NamedThing	cough variant asthma	An asthma that is characterized by chronic nonproductive cough without shortness of breath.	DOVES_relaxed.owl
MONDO:0004979	biolink:NamedThing	asthma	A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.	DOVES_relaxed.owl
MONDO:0004765	biolink:NamedThing	intrinsic asthma	An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness.	DOVES_relaxed.owl
MONDO:0004766	biolink:NamedThing	status asthmaticus	An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators.	DOVES_relaxed.owl
MONDO:0004784	biolink:NamedThing	allergic asthma	A asthma with a basis in a pathological type I hypersensitivity reaction.	DOVES_relaxed.owl
MONDO:0005405	biolink:NamedThing	childhood onset asthma	Asthma that starts in childhood.	DOVES_relaxed.owl
MONDO:0022742	biolink:NamedThing	occupational asthma	Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE.	DOVES_relaxed.owl
MONDO:0800112	biolink:NamedThing	non-atopic asthma	A type of asthma that isn't related to an allergy trigger like pollen or dust, and is less common than atopic asthma.	DOVES_relaxed.owl
MONDO:0001492	biolink:NamedThing	kyphoscoliotic heart disease		DOVES_relaxed.owl
MONDO:0001493	biolink:NamedThing	chronic pulmonary heart disease	Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure.	DOVES_relaxed.owl
MONDO:0001999	biolink:NamedThing	primary pulmonary hypertension	Increased blood pressure in the arteries of the lungs; the etiology is unknown.	DOVES_relaxed.owl
MONDO:0004596	biolink:NamedThing	cor pulmonale	Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism.	DOVES_relaxed.owl
MONDO:0001498	biolink:NamedThing	varicocele	A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume.	DOVES_relaxed.owl
MONDO:0004872	biolink:NamedThing	hemorrhoid	Dilated veins in the anal canal.	DOVES_relaxed.owl
MONDO:0001502	biolink:NamedThing	retroperitoneum carcinoma	A carcinoma that arises from epithelial cells of the retroperitoneal space.	DOVES_relaxed.owl
MONDO:0002817	biolink:NamedThing	adrenal gland cancer	A malignant neoplasm involving the adrenal gland	DOVES_relaxed.owl
MONDO:0002472	biolink:NamedThing	carcinoma ex pleomorphic adenoma	A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases.	DOVES_relaxed.owl
MONDO:0002650	biolink:NamedThing	scrotal carcinoma	A carcinoma that arises from epithelial cells of the scrotum.	DOVES_relaxed.owl
MONDO:0003158	biolink:NamedThing	malignant myoepithelioma	An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.	DOVES_relaxed.owl
MONDO:0003389	biolink:NamedThing	epithelial-myoepithelial carcinoma	A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm.	DOVES_relaxed.owl
MONDO:0003570	biolink:NamedThing	lipid-rich carcinoma	A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma.	DOVES_relaxed.owl
MONDO:0003575	biolink:NamedThing	comedocarcinoma	A high grade carcinoma characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells.	DOVES_relaxed.owl
MONDO:0004989	biolink:NamedThing	breast carcinoma	A carcinoma that arises from epithelial cells of the breast	DOVES_relaxed.owl
MONDO:0005138	biolink:NamedThing	lung carcinoma	A carcinoma that arises from epithelial cells of the lung	DOVES_relaxed.owl
MONDO:0005206	biolink:NamedThing	renal carcinoma	A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms.	DOVES_relaxed.owl
MONDO:0005232	biolink:NamedThing	large cell carcinoma	A malignant epithelial neoplasm composed of large, atypical cells.	DOVES_relaxed.owl
MONDO:0005617	biolink:NamedThing	undifferentiated carcinoma	A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation.	DOVES_relaxed.owl
MONDO:0006102	biolink:NamedThing	basaloid carcinoma	A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading.	DOVES_relaxed.owl
MONDO:0006176	biolink:NamedThing	cribriform carcinoma	A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma.	DOVES_relaxed.owl
MONDO:0006206	biolink:NamedThing	fallopian tube carcinoma	A carcinoma that arises from epithelial cells of the fallopian tube.	DOVES_relaxed.owl
MONDO:0006282	biolink:NamedThing	lymphangiosarcoma	A malignant neoplasm arising from the endothelial cells of the lymphatic vessels.	DOVES_relaxed.owl
MONDO:0006406	biolink:NamedThing	sarcomatoid carcinoma	A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present.	DOVES_relaxed.owl
MONDO:0006474	biolink:NamedThing	transitional cell carcinoma	A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries.	DOVES_relaxed.owl
MONDO:0006509	biolink:NamedThing	papillary carcinoma	A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma.	DOVES_relaxed.owl
MONDO:0006824	biolink:NamedThing	Krebs 2 carcinoma	Carcinoma having known association to krebs2 gene mutation	DOVES_relaxed.owl
MONDO:0015075	biolink:NamedThing	thyroid gland carcinoma	A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic.	DOVES_relaxed.owl
MONDO:0015867	biolink:NamedThing	vaginal carcinoma	A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas.	DOVES_relaxed.owl
MONDO:0016718	biolink:NamedThing	choroid plexus carcinoma	A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0020804	biolink:NamedThing	basal cell carcinoma	A carcinoma involving the basal cells.	DOVES_relaxed.owl
MONDO:0021327	biolink:NamedThing	carcinoma of urethra	A carcinoma that involves the urethra.	DOVES_relaxed.owl
MONDO:0021659	biolink:NamedThing	combined carcinoid and adenocarcinoma	A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells.	DOVES_relaxed.owl
MONDO:0024878	biolink:NamedThing	secondary carcinoma	A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment.	DOVES_relaxed.owl
MONDO:0040677	biolink:NamedThing	invasive carcinoma	A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma.	DOVES_relaxed.owl
MONDO:0045055	biolink:NamedThing	glycogen-rich carcinoma	A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma.	DOVES_relaxed.owl
MONDO:0001505	biolink:NamedThing	alcoholic hepatitis	Acute hepatitis resulting from ingestion of alcohol.	DOVES_relaxed.owl
MONDO:0002184	biolink:NamedThing	drug-induced hepatitis	Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite.	DOVES_relaxed.owl
MONDO:0002252	biolink:NamedThing	granulomatous hepatitis	Hepatitis that is characterized by the presence of granulomas.	DOVES_relaxed.owl
MONDO:0005787	biolink:NamedThing	hepatic tuberculosis	Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests.	DOVES_relaxed.owl
MONDO:0007027	biolink:NamedThing	non-alcoholic steatohepatitis	Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure.	DOVES_relaxed.owl
MONDO:0016264	biolink:NamedThing	autoimmune hepatitis	Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma.	DOVES_relaxed.owl
MONDO:0018109	biolink:NamedThing	fulminant viral hepatitis	Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV.	DOVES_relaxed.owl
MONDO:0006644	biolink:NamedThing	alcoholic liver cirrhosis	A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages.	DOVES_relaxed.owl
MONDO:0021104	biolink:NamedThing	alcoholic fatty liver disease	Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated.	DOVES_relaxed.owl
MONDO:0020977	biolink:NamedThing	granulomatous prostatitis	An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue.	DOVES_relaxed.owl
MONDO:0022103	biolink:NamedThing	chronic prostatitis	An infectious or non-infectious chronic inflammatory process that affects the prostate gland.	DOVES_relaxed.owl
MONDO:0030705	biolink:NamedThing	Trichomonas prostatitis	Infection of the prostate gland caused by Trichomonas vaginalis.	DOVES_relaxed.owl
MONDO:0001507	biolink:NamedThing	viral labyrinthitis	An labyrinthitis caused by infection with Viruses.	DOVES_relaxed.owl
MONDO:0001739	biolink:NamedThing	purulent labyrinthitis	A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma.	DOVES_relaxed.owl
MONDO:0001820	biolink:NamedThing	focal labyrinthitis	A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma.	DOVES_relaxed.owl
MONDO:0001874	biolink:NamedThing	toxic labyrinthitis	A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic.	DOVES_relaxed.owl
MONDO:0002006	biolink:NamedThing	serous labyrinthitis	A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.	DOVES_relaxed.owl
MONDO:0001508	biolink:NamedThing	patulous eustachian tube	A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.	DOVES_relaxed.owl
MONDO:0001511	biolink:NamedThing	thyrotoxic exophthalmos		DOVES_relaxed.owl
MONDO:0001643	biolink:NamedThing	exophthalmic ophthalmoplegia		DOVES_relaxed.owl
MONDO:0004184	biolink:NamedThing	urethral disorder	A disease involving the urethra.	DOVES_relaxed.owl
MONDO:0001556	biolink:NamedThing	urethral obstruction	Blockage of the normal flow of urine in the urethra.	DOVES_relaxed.owl
MONDO:0001721	biolink:NamedThing	urethral intrinsic sphincter deficiency		DOVES_relaxed.owl
MONDO:0001730	biolink:NamedThing	urethral syndrome		DOVES_relaxed.owl
MONDO:0004760	biolink:NamedThing	urethral false passage		DOVES_relaxed.owl
MONDO:0004826	biolink:NamedThing	urethral calculus	A concretion in the urethra.	DOVES_relaxed.owl
MONDO:0004909	biolink:NamedThing	urethral gland abscess		DOVES_relaxed.owl
MONDO:0006550	biolink:NamedThing	fibroepithelial polyp of urethra	A benign polypoid lesion of mesodermal origin that arises from the urethra.	DOVES_relaxed.owl
MONDO:0021239	biolink:NamedThing	urethra neoplasm	A neoplasm (disease) that involves the urethra.	DOVES_relaxed.owl
MONDO:0003182	biolink:NamedThing	anterior horn disorder	Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis.	DOVES_relaxed.owl
MONDO:0001518	biolink:NamedThing	spastic entropion		DOVES_relaxed.owl
MONDO:0001591	biolink:NamedThing	senile entropion		DOVES_relaxed.owl
MONDO:0001636	biolink:NamedThing	mechanical entropion		DOVES_relaxed.owl
MONDO:0001637	biolink:NamedThing	cicatricial entropion		DOVES_relaxed.owl
MONDO:0020159	biolink:NamedThing	congenital entropion		DOVES_relaxed.owl
MONDO:0001520	biolink:NamedThing	kleptomania	A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft.	DOVES_relaxed.owl
MONDO:0001521	biolink:NamedThing	intermittent explosive disorder	A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use.	DOVES_relaxed.owl
MONDO:0001522	biolink:NamedThing	pyromania	A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting.	DOVES_relaxed.owl
MONDO:0040870	biolink:NamedThing	primary polydipsia	A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink.	DOVES_relaxed.owl
MONDO:0001525	biolink:NamedThing	thyrocalcitonin secretion disease		DOVES_relaxed.owl
MONDO:0004564	biolink:NamedThing	thyroid malformation	An anatomic abnormality of the thyroid gland.	DOVES_relaxed.owl
MONDO:0005333	biolink:NamedThing	hyperthyroxinemia	Abnormally elevated thyroxine level in the blood.	DOVES_relaxed.owl
MONDO:0005420	biolink:NamedThing	hypothyroidism	Abnormally low levels of thyroid hormone.	DOVES_relaxed.owl
MONDO:0006120	biolink:NamedThing	C-cell hyperplasia	Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism).	DOVES_relaxed.owl
MONDO:0006666	biolink:NamedThing	atrophy of thyroid	Tissue degeneration and diminished size of the thyroid gland.	DOVES_relaxed.owl
MONDO:0001530	biolink:NamedThing	secondary hyperparathyroidism of renal origin		DOVES_relaxed.owl
MONDO:0012850	biolink:NamedThing	hypophosphatemic nephrolithiasis/osteoporosis 1		DOVES_relaxed.owl
MONDO:0012851	biolink:NamedThing	hypophosphatemic nephrolithiasis/osteoporosis 2		DOVES_relaxed.owl
MONDO:0016383	biolink:NamedThing	nephrogenic diabetes insipidus	Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.	DOVES_relaxed.owl
MONDO:0006964	biolink:NamedThing	secondary hyperparathyroidism	Overproduction of parathyroid hormone in response to influence external to the parathyroid glands.	DOVES_relaxed.owl
MONDO:0001750	biolink:NamedThing	non-renal secondary hyperparathyroidism		DOVES_relaxed.owl
MONDO:0001533	biolink:NamedThing	pes anserinus tendinitis or bursitis		DOVES_relaxed.owl
MONDO:0001557	biolink:NamedThing	olecranon bursitis	A bursitis that involves the olecranon.	DOVES_relaxed.owl
MONDO:0001747	biolink:NamedThing	tibial collateral ligament bursitis		DOVES_relaxed.owl
MONDO:0004764	biolink:NamedThing	fibular collateral ligament bursitis		DOVES_relaxed.owl
MONDO:0001535	biolink:NamedThing	vagus nerve disorder	A disease involving the vagus nerve.	DOVES_relaxed.owl
MONDO:0004279	biolink:NamedThing	glossopharyngeal motor neuropathy	Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)	DOVES_relaxed.owl
MONDO:0016372	biolink:NamedThing	glossopharyngeal neuralgia	Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases.	DOVES_relaxed.owl
MONDO:0001680	biolink:NamedThing	vaginal mullerian papilloma	A benign papilloma that arises from the vagina in infants and young women.	DOVES_relaxed.owl
MONDO:0001731	biolink:NamedThing	benign vaginal mixed epithelial and mesenchymal neoplasm	A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements.	DOVES_relaxed.owl
MONDO:0001537	biolink:NamedThing	tuberculous epididymitis	An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis.	DOVES_relaxed.owl
MONDO:0004778	biolink:NamedThing	epididymo-orchitis	A disorder involving inflammation of the epididymis and testes.	DOVES_relaxed.owl
MONDO:0001855	biolink:NamedThing	rubeosis iridis		DOVES_relaxed.owl
MONDO:0004037	biolink:NamedThing	retinal edema		DOVES_relaxed.owl
MONDO:0006797	biolink:NamedThing	hypertensive retinopathy	Retinopathy due to hypertension.	DOVES_relaxed.owl
MONDO:0006843	biolink:NamedThing	macular holes	A hole in the macula of the retina.	DOVES_relaxed.owl
MONDO:0006952	biolink:NamedThing	retinopathy of prematurity	A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia.	DOVES_relaxed.owl
MONDO:0010371	biolink:NamedThing	Aland island eye disease	An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.	DOVES_relaxed.owl
MONDO:0010633	biolink:NamedThing	iris hypoplasia with glaucoma		DOVES_relaxed.owl
MONDO:0018460	biolink:NamedThing	Eales disease	Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.	DOVES_relaxed.owl
MONDO:0018616	biolink:NamedThing	central serous chorioretinopathy	Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals.	DOVES_relaxed.owl
MONDO:0019112	biolink:NamedThing	cancer-associated retinopathy	Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.	DOVES_relaxed.owl
MONDO:0019973	biolink:NamedThing	persistent placoid maculopathy	Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.	DOVES_relaxed.owl
MONDO:0022410	biolink:NamedThing	retinal ciliopathy		DOVES_relaxed.owl
MONDO:0023868	biolink:NamedThing	melanoma associated retinopathy	Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision.	DOVES_relaxed.owl
MONDO:0034978	biolink:NamedThing	isolated foveal hypoplasia	A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.	DOVES_relaxed.owl
MONDO:0700115	biolink:NamedThing	proliferative vitreoretinopathy	Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.	DOVES_relaxed.owl
MONDO:0800343	biolink:NamedThing	rhegmatogenous retinal detachment, autosomal dominant		DOVES_relaxed.owl
MONDO:0002681	biolink:NamedThing	choroid plexus cancer	A malignant neoplasm involving the choroid plexus	DOVES_relaxed.owl
MONDO:0003021	biolink:NamedThing	central nervous system angiosarcoma	A malignant vascular neoplasm arising from the brain, spinal cord or meninges.	DOVES_relaxed.owl
MONDO:0006700	biolink:NamedThing	choroid cancer	A malignant neoplasm involving the optic choroid.	DOVES_relaxed.owl
MONDO:0007672	biolink:NamedThing	glomuvenous malformation	Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin.	DOVES_relaxed.owl
MONDO:0007918	biolink:NamedThing	microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.	DOVES_relaxed.owl
MONDO:0007920	biolink:NamedThing	lymphatic malformation 5	A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.	DOVES_relaxed.owl
MONDO:0009760	biolink:NamedThing	Norman-Roberts syndrome	Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.	DOVES_relaxed.owl
MONDO:0020048	biolink:NamedThing	internal carotid agenesis	Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography.	DOVES_relaxed.owl
MONDO:0021053	biolink:NamedThing	carotid body paraganglioma	A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck.	DOVES_relaxed.owl
MONDO:0021487	biolink:NamedThing	benign neoplasm of choroid	A benign neoplasm that involves the optic choroid.	DOVES_relaxed.owl
MONDO:0021627	biolink:NamedThing	eyelid capillary hemangioma	A capillary hemangioma arising from the eyelid.	DOVES_relaxed.owl
MONDO:0024539	biolink:NamedThing	choroidal dystrophy, central areolar, 1	Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.	DOVES_relaxed.owl
MONDO:0031037	biolink:NamedThing	famililal cerebral cavernous malformations	A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.	DOVES_relaxed.owl
MONDO:0044764	biolink:NamedThing	benign choroid plexus neoplasm		DOVES_relaxed.owl
MONDO:0001539	biolink:NamedThing	retinal perforation	A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters.	DOVES_relaxed.owl
MONDO:0005464	biolink:NamedThing	rhegmatogenous retinal detachment	Retinal detachment secondary to retinal tear or break.	DOVES_relaxed.owl
MONDO:0001541	biolink:NamedThing	plantar nerve lesion	A peripheral nerve lesion that involves the plantar nerve.	DOVES_relaxed.owl
MONDO:0001542	biolink:NamedThing	common peroneal nerve lesion	A peripheral nerve lesion that involves the common fibular nerve.	DOVES_relaxed.owl
MONDO:0004797	biolink:NamedThing	mononeuritis of lower limb	A mononeuritis simplex that involves the hindlimb.	DOVES_relaxed.owl
MONDO:0001544	biolink:NamedThing	tibial nerve palsy		DOVES_relaxed.owl
MONDO:0001829	biolink:NamedThing	lumbosacral plexus lesion	A nerve plexus disease that involves the lumbosacral nerve plexus.	DOVES_relaxed.owl
MONDO:0004546	biolink:NamedThing	lumbar plexus neoplasm	A neoplasm (disease) that involves the lumbar nerve plexus.	DOVES_relaxed.owl
MONDO:0024454	biolink:NamedThing	sacral nerve plexus disorder	A disease that involves the sacral nerve plexus.	DOVES_relaxed.owl
MONDO:0024333	biolink:NamedThing	sciatica	A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina.	DOVES_relaxed.owl
MONDO:0001546	biolink:NamedThing	hypermobility of coccyx		DOVES_relaxed.owl
MONDO:0003940	biolink:NamedThing	Kummell disease	A disease that presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury.	DOVES_relaxed.owl
MONDO:0001548	biolink:NamedThing	hepatic coma	A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)	DOVES_relaxed.owl
MONDO:0009295	biolink:NamedThing	glycogen storage disease VII	Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.	DOVES_relaxed.owl
MONDO:0009340	biolink:NamedThing	non-spherocytic hemolytic anemia due to hexokinase deficiency	Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.	DOVES_relaxed.owl
MONDO:0009902	biolink:NamedThing	cutaneous porphyria	Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.	DOVES_relaxed.owl
MONDO:0009946	biolink:NamedThing	hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.	DOVES_relaxed.owl
MONDO:0010392	biolink:NamedThing	glycogen storage disease due to phosphoglycerate kinase 1 deficiency	Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.	DOVES_relaxed.owl
MONDO:0012143	biolink:NamedThing	hereditary cryohydrocytosis with reduced stomatin		DOVES_relaxed.owl
MONDO:0012700	biolink:NamedThing	renal tubular acidosis, distal, 4, with hemolytic anemia	Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia.	DOVES_relaxed.owl
MONDO:0012747	biolink:NamedThing	glycogen storage disease due to aldolase A deficiency	Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.	DOVES_relaxed.owl
MONDO:0019403	biolink:NamedThing	congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA.	DOVES_relaxed.owl
MONDO:0019531	biolink:NamedThing	hemolytic anemia due to glutathione reductase deficiency	Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes.	DOVES_relaxed.owl
MONDO:0020458	biolink:NamedThing	hemolytic anemia due to erythrocyte adenosine deaminase overproduction	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.	DOVES_relaxed.owl
MONDO:0060455	biolink:NamedThing	X-linked congenital hemolytic anemia		DOVES_relaxed.owl
MONDO:0007915	biolink:NamedThing	systemic lupus erythematosus	An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.	DOVES_relaxed.owl
MONDO:0007595	biolink:NamedThing	factor VII and Factor VIII, combined deficiency of		DOVES_relaxed.owl
MONDO:0008552	biolink:NamedThing	platelet-type bleeding disorder 16	An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.	DOVES_relaxed.owl
MONDO:0009009	biolink:NamedThing	hypoplasminogenemia	Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.	DOVES_relaxed.owl
MONDO:0009158	biolink:NamedThing	Ehlers-Danlos syndrome, fibronectinemic type	Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0009885	biolink:NamedThing	Scott syndrome	Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.	DOVES_relaxed.owl
MONDO:0010097	biolink:NamedThing	Tatsumi factor deficiency		DOVES_relaxed.owl
MONDO:0011588	biolink:NamedThing	platelet-type bleeding disorder 12	An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.	DOVES_relaxed.owl
MONDO:0012031	biolink:NamedThing	platelet-type bleeding disorder 10	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene.	DOVES_relaxed.owl
MONDO:0012354	biolink:NamedThing	platelet-type bleeding disorder 8	P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.	DOVES_relaxed.owl
MONDO:0013597	biolink:NamedThing	platelet-type bleeding disorder 14	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene.	DOVES_relaxed.owl
MONDO:0014386	biolink:NamedThing	platelet-type bleeding disorder 18	Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.	DOVES_relaxed.owl
MONDO:0018047	biolink:NamedThing	familial thrombomodulin anomalies		DOVES_relaxed.owl
MONDO:0019111	biolink:NamedThing	familial thrombocytosis	Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.	DOVES_relaxed.owl
MONDO:0019138	biolink:NamedThing	bleeding diathesis due to a collagen receptor defect		DOVES_relaxed.owl
MONDO:0100326	biolink:NamedThing	Glanzmann thrombasthenia		DOVES_relaxed.owl
MONDO:0001551	biolink:NamedThing	ulceration of vulva		DOVES_relaxed.owl
MONDO:0001938	biolink:NamedThing	vulvar dystrophy	A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness.	DOVES_relaxed.owl
MONDO:0001555	biolink:NamedThing	neonatal thyrotoxicosis	A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins.	DOVES_relaxed.owl
MONDO:0010138	biolink:NamedThing	thyrotoxicosis	A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis.	DOVES_relaxed.owl
MONDO:0005881	biolink:NamedThing	oligohydramnios	A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm.	DOVES_relaxed.owl
MONDO:0001562	biolink:NamedThing	displacement of cardia through esophageal hiatus		DOVES_relaxed.owl
MONDO:0003569	biolink:NamedThing	cranial nerve neuropathy	A neoplastic or non-neoplastic disorder that affects one of the cranial nerves.	DOVES_relaxed.owl
MONDO:0001584	biolink:NamedThing	ocular motility disease		DOVES_relaxed.owl
MONDO:0006930	biolink:NamedThing	pseudobulbar palsy	A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes.	DOVES_relaxed.owl
MONDO:0007946	biolink:NamedThing	jaw-winking syndrome	Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis.	DOVES_relaxed.owl
MONDO:0016374	biolink:NamedThing	cranial neuralgia	A neuralgia that involves the cranial neuron projection bundle.	DOVES_relaxed.owl
MONDO:0001565	biolink:NamedThing	abnormal retinal correspondence		DOVES_relaxed.owl
MONDO:0005557	biolink:NamedThing	calcium metabolic disease	Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.	DOVES_relaxed.owl
MONDO:0002123	biolink:NamedThing	calcinosis	Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer.	DOVES_relaxed.owl
MONDO:0400002	biolink:NamedThing	calcium-alkali syndrome	The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency.	DOVES_relaxed.owl
MONDO:0001569	biolink:NamedThing	acoustic neuroma	A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing.	DOVES_relaxed.owl
MONDO:0002546	biolink:NamedThing	schwannoma	A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported.	DOVES_relaxed.owl
MONDO:0002548	biolink:NamedThing	cellular schwannoma	A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies.	DOVES_relaxed.owl
MONDO:0002549	biolink:NamedThing	schwannoma of twelfth cranial nerve	A schwannoma that involves the hypoglossal nerve.	DOVES_relaxed.owl
MONDO:0002555	biolink:NamedThing	trigeminal schwannoma	A schwannoma that involves the trigeminal nerve.	DOVES_relaxed.owl
MONDO:0002556	biolink:NamedThing	microcystic/reticular schwannoma	The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue.	DOVES_relaxed.owl
MONDO:0002558	biolink:NamedThing	melanotic neurilemmoma	A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients.	DOVES_relaxed.owl
MONDO:0002559	biolink:NamedThing	plexiform schwannoma	A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck.	DOVES_relaxed.owl
MONDO:0002768	biolink:NamedThing	true hermaphroditism	A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia.	DOVES_relaxed.owl
MONDO:0017576	biolink:NamedThing	46,XX disorder of sex development	Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.	DOVES_relaxed.owl
MONDO:0017975	biolink:NamedThing	sex chromosome disorder of sex development	Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism.	DOVES_relaxed.owl
MONDO:0020040	biolink:NamedThing	46,XY disorder of sex development	Differences of sex development in individuals with 46,XY karyotype.	DOVES_relaxed.owl
MONDO:0024665	biolink:NamedThing	indeterminate sex and/or pseudohermaphroditism		DOVES_relaxed.owl
MONDO:0006106	biolink:NamedThing	benign smooth muscle neoplasm	A benign mesenchymal neoplasm arising from smooth muscle tissue.	DOVES_relaxed.owl
MONDO:0006767	biolink:NamedThing	gastric antral vascular ectasia	Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding.	DOVES_relaxed.owl
MONDO:0008094	biolink:NamedThing	familial multiple nevi flammei	A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.	DOVES_relaxed.owl
MONDO:0001577	biolink:NamedThing	respiratory syncytial virus infectious disease	Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children.	DOVES_relaxed.owl
MONDO:0005856	biolink:NamedThing	Mononegavirales infectious disease	Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections.	DOVES_relaxed.owl
MONDO:0005762	biolink:NamedThing	Filoviridae infectious disease	Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown.	DOVES_relaxed.owl
MONDO:0005944	biolink:NamedThing	Rhabdoviridae infectious disease	Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis.	DOVES_relaxed.owl
MONDO:0005812	biolink:NamedThing	influenza	An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system.	DOVES_relaxed.owl
MONDO:0006012	biolink:NamedThing	viral pneumonia	Inflammation of the lung parenchyma that is caused by a viral infection.	DOVES_relaxed.owl
MONDO:0001580	biolink:NamedThing	lacrimal duct cancer	A primary or metastatic malignant neoplasm affecting the lacrimal duct.	DOVES_relaxed.owl
MONDO:0002464	biolink:NamedThing	lacrimal gland cancer	A malignant neoplasm involving the lacrimal gland.	DOVES_relaxed.owl
MONDO:0001582	biolink:NamedThing	cicatricial ectropion		DOVES_relaxed.owl
MONDO:0001695	biolink:NamedThing	senile ectropion		DOVES_relaxed.owl
MONDO:0002042	biolink:NamedThing	mechanical ectropion	An ectropion with a mechanical etiology.	DOVES_relaxed.owl
MONDO:0002044	biolink:NamedThing	spastic ectropion		DOVES_relaxed.owl
MONDO:0020161	biolink:NamedThing	congenital ectropion		DOVES_relaxed.owl
MONDO:0009662	biolink:NamedThing	mucopolysaccharidosis type 7	Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.	DOVES_relaxed.owl
MONDO:0030524	biolink:NamedThing	mucopolysaccharidosis, type 10		DOVES_relaxed.owl
MONDO:0001588	biolink:NamedThing	chronic lacrimal gland enlargement		DOVES_relaxed.owl
MONDO:0004800	biolink:NamedThing	chronic dacryoadenitis	Chronic form of dacryoadenitis.	DOVES_relaxed.owl
MONDO:0001597	biolink:NamedThing	submandibular gland disorder	A disease involving the submandibular gland.	DOVES_relaxed.owl
MONDO:0001598	biolink:NamedThing	benign lymphoepithelial lesion of salivary gland	A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma.	DOVES_relaxed.owl
MONDO:0001600	biolink:NamedThing	mucocele of salivary gland	A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction.	DOVES_relaxed.owl
MONDO:0005899	biolink:NamedThing	parotid disorder	A disease involving the parotid gland.	DOVES_relaxed.owl
MONDO:0006864	biolink:NamedThing	necrotizing sialometaplasia	A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma.	DOVES_relaxed.owl
MONDO:0006970	biolink:NamedThing	sialolithiasis	A concretion in the salivary gland.	DOVES_relaxed.owl
MONDO:0001601	biolink:NamedThing	Plasmodium ovale malaria	An malaria caused by infection with Plasmodium ovale.	DOVES_relaxed.owl
MONDO:0001943	biolink:NamedThing	Plasmodium malariae malaria	Malaria resulting from infection by Plasmodium malariae.	DOVES_relaxed.owl
MONDO:0001944	biolink:NamedThing	mixed malaria	A malaria that involves infection with more than one species of Plasmodium at the same time.	DOVES_relaxed.owl
MONDO:0005670	biolink:NamedThing	blackwater fever	A complication of malaria resulting from hemolysis.	DOVES_relaxed.owl
MONDO:0005920	biolink:NamedThing	Plasmodium falciparum malaria	Malaria resulting from infection by Plasmodium falciparum.	DOVES_relaxed.owl
MONDO:0005921	biolink:NamedThing	Plasmodium vivax malaria	Malaria resulting from infection by Plasmodium vivax.	DOVES_relaxed.owl
MONDO:0001602	biolink:NamedThing	labia minora carcinoma	A carcinoma that arises from the labia minora.	DOVES_relaxed.owl
MONDO:0001702	biolink:NamedThing	labia majora carcinoma	A carcinoma that arises from the labia majora.	DOVES_relaxed.owl
MONDO:0002655	biolink:NamedThing	cutaneous Paget disease	A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.	DOVES_relaxed.owl
MONDO:0004083	biolink:NamedThing	Borst-Jadassohn intraepidermal carcinoma	A rare cutaneous lesion presenting as a scaly verrucous plaque. Morphologically, the plaque contains nests of basaloid cells.	DOVES_relaxed.owl
MONDO:0006973	biolink:NamedThing	skin appendage carcinoma	A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma.	DOVES_relaxed.owl
MONDO:0021010	biolink:NamedThing	skin lymphangiosarcoma	A malignant vascular neoplasm of the skin arising from the lymphatic vessels.	DOVES_relaxed.owl
MONDO:0002829	biolink:NamedThing	bartholin gland carcinoma	A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma.	DOVES_relaxed.owl
MONDO:0024873	biolink:NamedThing	clitoral carcinoma	A carcinoma that arises from the clitoris.	DOVES_relaxed.owl
MONDO:0001603	biolink:NamedThing	paralytic lagophthalmos		DOVES_relaxed.owl
MONDO:0001622	biolink:NamedThing	mechanical lagophthalmos		DOVES_relaxed.owl
MONDO:0001623	biolink:NamedThing	cicatricial lagophthalmos		DOVES_relaxed.owl
MONDO:0002327	biolink:NamedThing	intracranial cavernous angioma	A cavernous hemangioma arising from the brain and meninges.	DOVES_relaxed.owl
MONDO:0018935	biolink:NamedThing	hairy cell leukemia	Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections.	DOVES_relaxed.owl
MONDO:0004110	biolink:NamedThing	refractory hairy cell leukemia	Hairy cell leukemia that is resistant to treatment.	DOVES_relaxed.owl
MONDO:0017600	biolink:NamedThing	hairy cell leukemia variant	Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C).	DOVES_relaxed.owl
MONDO:0001608	biolink:NamedThing	vagus nerve neoplasm	A neoplasm involving a vagus nerve.	DOVES_relaxed.owl
MONDO:0003783	biolink:NamedThing	lymphopenia	Reduction in the number of lymphocytes.	DOVES_relaxed.owl
MONDO:0001611	biolink:NamedThing	phlegmonous dacryocystitis		DOVES_relaxed.owl
MONDO:0004925	biolink:NamedThing	chronic dacryocystitis	Chronic form of dacryocystitis.	DOVES_relaxed.owl
MONDO:0023023	biolink:NamedThing	neonatal dacryocystitis	Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection.	DOVES_relaxed.owl
MONDO:0001612	biolink:NamedThing	carotid stenosis	A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents.	DOVES_relaxed.owl
MONDO:0004763	biolink:NamedThing	carotid artery dissection	Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke.	DOVES_relaxed.owl
MONDO:0006690	biolink:NamedThing	carotid artery thrombosis	Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax.	DOVES_relaxed.owl
MONDO:0022535	biolink:NamedThing	autonomic facial cephalgia		DOVES_relaxed.owl
MONDO:0043479	biolink:NamedThing	adenoviridae infectious disease	An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis.	DOVES_relaxed.owl
MONDO:0001616	biolink:NamedThing	lobomycosis	A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol.	DOVES_relaxed.owl
MONDO:0001617	biolink:NamedThing	transient global amnesia	A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event.	DOVES_relaxed.owl
MONDO:0003040	biolink:NamedThing	retrograde amnesia	The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected.	DOVES_relaxed.owl
MONDO:0003398	biolink:NamedThing	anterograde amnesia	Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)	DOVES_relaxed.owl
MONDO:0021702	biolink:NamedThing	alcohol amnestic disorder	A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)	DOVES_relaxed.owl
MONDO:0001618	biolink:NamedThing	balanoposthitis		DOVES_relaxed.owl
MONDO:0001725	biolink:NamedThing	balanitis xerotica obliterans	A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis.	DOVES_relaxed.owl
MONDO:0024392	biolink:NamedThing	anaerobic balanitis		DOVES_relaxed.owl
MONDO:0001620	biolink:NamedThing	louse-borne relapsing fever	An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.	DOVES_relaxed.owl
MONDO:0006922	biolink:NamedThing	Anaplasmataceae infectious disease	Infections with bacteria of the family anaplasmataceae.	DOVES_relaxed.owl
MONDO:0001625	biolink:NamedThing	corpus luteum cyst	A ovarian cyst (disease) that involves the corpus luteum.	DOVES_relaxed.owl
MONDO:0003282	biolink:NamedThing	ovarian cyst		DOVES_relaxed.owl
MONDO:0002224	biolink:NamedThing	malignant ovarian cyst	A cystic cancerous tumor arising from the ovary.	DOVES_relaxed.owl
MONDO:0043154	biolink:NamedThing	neonatal ovarian cyst		DOVES_relaxed.owl
MONDO:0001630	biolink:NamedThing	branch retinal artery occlusion	An occlusion of a branch of the retinal artery.	DOVES_relaxed.owl
MONDO:0006948	biolink:NamedThing	retinal artery occlusion	An occlusion of the retinal artery.	DOVES_relaxed.owl
MONDO:0001985	biolink:NamedThing	partial arterial retinal occlusion	A partial occlusion of the retinal artery.	DOVES_relaxed.owl
MONDO:0004583	biolink:NamedThing	transient retinal arterial occlusion	A partial, temporary occlusion of the retinal artery.	DOVES_relaxed.owl
MONDO:0001856	biolink:NamedThing	splenic artery aneurysm		DOVES_relaxed.owl
MONDO:0002277	biolink:NamedThing	arteriosclerosis disorder	A vascular disorder characterized by thickening and hardening of the walls of the arteries.	DOVES_relaxed.owl
MONDO:0002641	biolink:NamedThing	subclavian artery aneurysm	A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm.	DOVES_relaxed.owl
MONDO:0003506	biolink:NamedThing	pulmonary artery choriocarcinoma	A rare choriocarcinoma that arises from a pulmonary artery.	DOVES_relaxed.owl
MONDO:0004207	biolink:NamedThing	pulmonary artery leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0005279	biolink:NamedThing	pulmonary embolism	The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung.	DOVES_relaxed.owl
MONDO:0005490	biolink:NamedThing	large artery stroke	Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain.	DOVES_relaxed.owl
MONDO:0006061	biolink:NamedThing	cervical artery dissection	A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery.	DOVES_relaxed.owl
MONDO:0008373	biolink:NamedThing	retinal arterial tortuosity		DOVES_relaxed.owl
MONDO:0008436	biolink:NamedThing	Sneddon syndrome	Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.	DOVES_relaxed.owl
MONDO:0018585	biolink:NamedThing	pediatric arterial ischemic stroke		DOVES_relaxed.owl
MONDO:0021727	biolink:NamedThing	aberrant subclavian artery	Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies..	DOVES_relaxed.owl
MONDO:0021896	biolink:NamedThing	anterior spinal artery stroke		DOVES_relaxed.owl
MONDO:0043187	biolink:NamedThing	pulmonary artery agenesis		DOVES_relaxed.owl
MONDO:0005264	biolink:NamedThing	transient ischemic attack	A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.	DOVES_relaxed.owl
MONDO:0001632	biolink:NamedThing	intracranial arteriosclerosis	Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis.	DOVES_relaxed.owl
MONDO:0003310	biolink:NamedThing	Monckeberg arteriosclerosis	A type of arteriosclerosis in which calcification of the tunica media is the predominant feature.	DOVES_relaxed.owl
MONDO:0004190	biolink:NamedThing	nephrogenic adenoma of urinary bladder	A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.	DOVES_relaxed.owl
MONDO:0044906	biolink:NamedThing	bladder urothelial papilloma	A benign neoplasm of the bladder that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma.	DOVES_relaxed.owl
MONDO:0001638	biolink:NamedThing	protein-deficiency anemia		DOVES_relaxed.owl
MONDO:0016625	biolink:NamedThing	acquired deficiency anemia	An instance of deficiency anemia that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0001642	biolink:NamedThing	hordeolum externum	A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis.	DOVES_relaxed.owl
MONDO:0004917	biolink:NamedThing	internal hordeolum	A hordeolum that results from infection of a meibomian gland.	DOVES_relaxed.owl
MONDO:0003134	biolink:NamedThing	proliferative glomerulonephritis	A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis.	DOVES_relaxed.owl
MONDO:0001645	biolink:NamedThing	crescentic glomerulonephritis	A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months.	DOVES_relaxed.owl
MONDO:0001647	biolink:NamedThing	benign renovascular hypertension		DOVES_relaxed.owl
MONDO:0006947	biolink:NamedThing	renovascular hypertension	High blood pressure secondary to renal artery stenosis.	DOVES_relaxed.owl
MONDO:0005361	biolink:NamedThing	eosinophilic esophagitis	Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs).	DOVES_relaxed.owl
MONDO:0022901	biolink:NamedThing	Crohn disease of the esophagus	An Crohn disease involving a pathogenic inflammatory response in the esophagus.	DOVES_relaxed.owl
MONDO:0001791	biolink:NamedThing	neonatal urinary tract infectious disease		DOVES_relaxed.owl
MONDO:0002649	biolink:NamedThing	scrotum Paget disease	A mammary Paget's disease that involves the scrotum.	DOVES_relaxed.owl
MONDO:0001652	biolink:NamedThing	scrotum melanoma	A melanoma (disease) that involves the scrotum.	DOVES_relaxed.owl
MONDO:0005105	biolink:NamedThing	melanoma	A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.	DOVES_relaxed.owl
MONDO:0002971	biolink:NamedThing	amelanotic melanoma	A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction.	DOVES_relaxed.owl
MONDO:0002973	biolink:NamedThing	epithelioid cell melanoma	A melanoma characterized by the presence of malignant large epithelioid melanocytes.	DOVES_relaxed.owl
MONDO:0002975	biolink:NamedThing	malignant breast melanoma	A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare.	DOVES_relaxed.owl
MONDO:0004141	biolink:NamedThing	melanomatosis		DOVES_relaxed.owl
MONDO:0006749	biolink:NamedThing	mixed epithelioid and spindle cell melanoma	A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes.	DOVES_relaxed.owl
MONDO:0015694	biolink:NamedThing	malignant melanoma of the mucosa	A melanoma (disease) that involves the mucosa.	DOVES_relaxed.owl
MONDO:0022623	biolink:NamedThing	CDK4 linked melanoma		DOVES_relaxed.owl
MONDO:0042494	biolink:NamedThing	childhood malignant melanoma	A melanoma that occurs during childhood.	DOVES_relaxed.owl
MONDO:0001660	biolink:NamedThing	proliferative diabetic retinopathy	Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness.	DOVES_relaxed.owl
MONDO:0001661	biolink:NamedThing	background diabetic retinopathy	An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels.	DOVES_relaxed.owl
MONDO:0004728	biolink:NamedThing	diabetic macular edema		DOVES_relaxed.owl
MONDO:0001663	biolink:NamedThing	hole retinal cyst		DOVES_relaxed.owl
MONDO:0001919	biolink:NamedThing	cystoid macular retinal degeneration		DOVES_relaxed.owl
MONDO:0002174	biolink:NamedThing	preretinal fibrosis	A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)	DOVES_relaxed.owl
MONDO:0004904	biolink:NamedThing	toxic maculopathy		DOVES_relaxed.owl
MONDO:0005150	biolink:NamedThing	age-related macular degeneration	Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.	DOVES_relaxed.owl
MONDO:0006949	biolink:NamedThing	retinal drusen	Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.	DOVES_relaxed.owl
MONDO:0001664	biolink:NamedThing	submucous uterine fibroid		DOVES_relaxed.owl
MONDO:0001745	biolink:NamedThing	subserous uterine fibroid		DOVES_relaxed.owl
MONDO:0001841	biolink:NamedThing	uterine corpus epithelioid leiomyoma	A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters.	DOVES_relaxed.owl
MONDO:0001842	biolink:NamedThing	uterine corpus dissecting leiomyoma	A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present.	DOVES_relaxed.owl
MONDO:0001843	biolink:NamedThing	uterus interstitial leiomyoma		DOVES_relaxed.owl
MONDO:0001844	biolink:NamedThing	uterine corpus myxoid leiomyoma	A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma.	DOVES_relaxed.owl
MONDO:0001845	biolink:NamedThing	uterine corpus lipoleiomyoma	A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm.	DOVES_relaxed.owl
MONDO:0001846	biolink:NamedThing	uterine corpus bizarre leiomyoma	A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei.	DOVES_relaxed.owl
MONDO:0003704	biolink:NamedThing	uterine corpus diffuse leiomyomatosis	An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus.	DOVES_relaxed.owl
MONDO:0004161	biolink:NamedThing	uterine corpus apoplectic leiomyoma	A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives.	DOVES_relaxed.owl
MONDO:0004162	biolink:NamedThing	uterine corpus cellular leiomyoma	A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.	DOVES_relaxed.owl
MONDO:0001923	biolink:NamedThing	vitreoretinal dystrophy		DOVES_relaxed.owl
MONDO:0001924	biolink:NamedThing	dystrophies primarily involving the retinal pigment epithelium		DOVES_relaxed.owl
MONDO:0001925	biolink:NamedThing	retinal dystrophy in systemic or cerebroretinal lipidoses		DOVES_relaxed.owl
MONDO:0007176	biolink:NamedThing	helicoid peripapillary chorioretinal degeneration	Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.	DOVES_relaxed.owl
MONDO:0007640	biolink:NamedThing	Sorsby fundus dystrophy	A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.	DOVES_relaxed.owl
MONDO:0008246	biolink:NamedThing	pigmented paravenous retinochoroidal atrophy	Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.	DOVES_relaxed.owl
MONDO:0008766	biolink:NamedThing	amaurosis-hypertrichosis syndrome	Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.	DOVES_relaxed.owl
MONDO:0009235	biolink:NamedThing	familial benign flecked retina	Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.	DOVES_relaxed.owl
MONDO:0009978	biolink:NamedThing	retinal degeneration-nanophthalmos-glaucoma syndrome	Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0009990	biolink:NamedThing	Revesz syndrome	Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.	DOVES_relaxed.owl
MONDO:0010558	biolink:NamedThing	choroideremia-deafness-obesity syndrome	Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.	DOVES_relaxed.owl
MONDO:0010722	biolink:NamedThing	X-linked retinal dysplasia		DOVES_relaxed.owl
MONDO:0010932	biolink:NamedThing	progressive bifocal chorioretinal atrophy	Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.	DOVES_relaxed.owl
MONDO:0011579	biolink:NamedThing	late-onset retinal degeneration	Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.	DOVES_relaxed.owl
MONDO:0012423	biolink:NamedThing	MORM syndrome	MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.	DOVES_relaxed.owl
MONDO:0014060	biolink:NamedThing	progressive retinal dystrophy due to retinol transport defect		DOVES_relaxed.owl
MONDO:0014195	biolink:NamedThing	microcornea-myopic chorioretinal atrophy		DOVES_relaxed.owl
MONDO:0014483	biolink:NamedThing	retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies		DOVES_relaxed.owl
MONDO:0015429	biolink:NamedThing	choroideremia-hypopituitarism syndrome		DOVES_relaxed.owl
MONDO:0015993	biolink:NamedThing	cone-rod dystrophy	Inherited retinal dystrophies that belong to the group of pigmentary retinopathies.	DOVES_relaxed.owl
MONDO:0016395	biolink:NamedThing	foveal hypoplasia-presenile cataract syndrome		DOVES_relaxed.owl
MONDO:0016979	biolink:NamedThing	MRCS syndrome	MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.	DOVES_relaxed.owl
MONDO:0018495	biolink:NamedThing	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.	DOVES_relaxed.owl
MONDO:0019151	biolink:NamedThing	oligocone trichromacy	Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal colour vision.	DOVES_relaxed.owl
MONDO:0019152	biolink:NamedThing	Oguchi disease	Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon.	DOVES_relaxed.owl
MONDO:0035002	biolink:NamedThing	isolated inherited retinal disorder		DOVES_relaxed.owl
MONDO:0100437	biolink:NamedThing	RPGR-related retinopathy	A retinopathy caused by a variant in the X-linked gene, RPGR.	DOVES_relaxed.owl
MONDO:0100438	biolink:NamedThing	AIPL1-related retinopathy	A retinopathy caused by biallelic variants in the AIPL1 gene.	DOVES_relaxed.owl
MONDO:0100442	biolink:NamedThing	RP2-related retinopathy	A retinopathy caused by variants in the X-linked gene, RP2.	DOVES_relaxed.owl
MONDO:0100443	biolink:NamedThing	RDH5-related retinopathy	A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina.	DOVES_relaxed.owl
MONDO:0100444	biolink:NamedThing	RLBP1-related retinopathy	A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina.	DOVES_relaxed.owl
MONDO:0100445	biolink:NamedThing	LCA5-related retinopathy	A retinopathy caused by biallelic variants in the LCA5 gene.	DOVES_relaxed.owl
MONDO:0100447	biolink:NamedThing	ATF6-related retinopathy	A retinopathy caused by biallelic variants in the AFT6 gene.	DOVES_relaxed.owl
MONDO:0100448	biolink:NamedThing	RAB28-related retinopathy	A retinopathy caused by biallelic variants in the RAB28 gene.	DOVES_relaxed.owl
MONDO:0100449	biolink:NamedThing	FLVCR1-related retinopathy with or without ataxia	A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.	DOVES_relaxed.owl
MONDO:0100454	biolink:NamedThing	GUCY2D retinopathy	Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.	DOVES_relaxed.owl
MONDO:0800098	biolink:NamedThing	SNRNP200-related dominant retinopathy	A retinopathy caused by heterozygous variants in the SNRNP200 gene.	DOVES_relaxed.owl
MONDO:0800099	biolink:NamedThing	RDH12-related recessive retinopathy	A retinopathy, typically severe, and early onset, caused by biallelic variants in the RDH12 gene.	DOVES_relaxed.owl
MONDO:0800100	biolink:NamedThing	RDH12-related dominant retinopathy	A retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision.	DOVES_relaxed.owl
MONDO:0800101	biolink:NamedThing	NMNAT1-related retinopathy	A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association.	DOVES_relaxed.owl
MONDO:0800102	biolink:NamedThing	CNGA3-related retinopathy	A retinopathy, typically described as achromatopsia, caused by biallelic variants in the CNGA3 gene.	DOVES_relaxed.owl
MONDO:0800391	biolink:NamedThing	EYS-related retinopathy	An inherited retinopathy caused by bi-allelic variants in the EYS gene.	DOVES_relaxed.owl
MONDO:0800392	biolink:NamedThing	GNAT2-related retinopathy	An inherited retinopathy caused by bi-allelic variants in the GNAT2 gene.	DOVES_relaxed.owl
MONDO:0800393	biolink:NamedThing	IDH3B-related retinopathy	An inherited retinopathy caused by bi-allelic variants in the IDH3B gene.	DOVES_relaxed.owl
MONDO:0800394	biolink:NamedThing	MERTK-related retinopathy	An inherited retinopathy caused by bi-allelic variants in the MERTK gene.	DOVES_relaxed.owl
MONDO:0800395	biolink:NamedThing	PRPF31-related retinopathy	An inherited retinopathy caused by variants in the PRPF31 gene.	DOVES_relaxed.owl
MONDO:0800396	biolink:NamedThing	GPR179-related retinopathy	An inherited retinopathy caused by bi-allelic variants in the GPR179 gene.	DOVES_relaxed.owl
MONDO:0800397	biolink:NamedThing	GRM6-related retinopathy	An inherited retinopathy caused by bi-allelic variants in the GRM6 gene.	DOVES_relaxed.owl
MONDO:0800398	biolink:NamedThing	ADAM9-related retinopathy	An inherited retinopathy caused by bi-allelic variants in the ADAM9 gene.	DOVES_relaxed.owl
MONDO:0800401	biolink:NamedThing	CERKL-related retinopathy	An inherited retinopathy caused by bi-allelic variants in the CERKL gene.	DOVES_relaxed.owl
MONDO:0800402	biolink:NamedThing	TRPM1-related retinoapthy	An inherited retinopathy caused by bi-allelic variants in the TRPM1 gene.	DOVES_relaxed.owl
MONDO:0800403	biolink:NamedThing	CNGB1-related retinopathy	An inherited retinopathy caused by bi-allelic variants in the CNGB1 gene.	DOVES_relaxed.owl
MONDO:0800404	biolink:NamedThing	PCARE-related retinopathy	An inherited retinopathy caused by bi-allelic variants in the PCARE gene.	DOVES_relaxed.owl
MONDO:0800405	biolink:NamedThing	CNGA1-related retinopathy	An inherited retinopathy caused by bi-allelic variants in the CNGA1 gene.	DOVES_relaxed.owl
MONDO:0800406	biolink:NamedThing	ABCA4-related retinoapthy	An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene.	DOVES_relaxed.owl
MONDO:0800407	biolink:NamedThing	NYX-related retinoapthy	An X-linked retinopathy caused by variants in the NYX gene.	DOVES_relaxed.owl
MONDO:0001667	biolink:NamedThing	streptobacillus infectious disease		DOVES_relaxed.owl
MONDO:0006705	biolink:NamedThing	Bacteroidaceae infectious disease	Infections with bacteria of the family BACTEROIDACEAE.	DOVES_relaxed.owl
MONDO:0006708	biolink:NamedThing	Desulfovibrionaceae infectious disease	Infections with bacteria of the family Desulfovibrionaceae.	DOVES_relaxed.owl
MONDO:0006781	biolink:NamedThing	Helicobacter pylori infectious disease	Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease.	DOVES_relaxed.owl
MONDO:0006878	biolink:NamedThing	Moraxellaceae infectious disease	Infections with bacteria of the family moraxellaceae.	DOVES_relaxed.owl
MONDO:0006924	biolink:NamedThing	Bartonellaceae infectious disease	Infections with bacteria of the family bartonellaceae.	DOVES_relaxed.owl
MONDO:0006925	biolink:NamedThing	Fusobacteriaceae infectious disease	Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria.	DOVES_relaxed.owl
MONDO:0020776	biolink:NamedThing	chlamydiaceae infections	Infections with bacteria of the family CHLAMYDIACEAE.	DOVES_relaxed.owl
MONDO:0041850	biolink:NamedThing	pneumonia caused by gram negative bacteria		DOVES_relaxed.owl
MONDO:0043953	biolink:NamedThing	burkholderia infectious disease	Infections with bacteria of the genus Burkholderia.	DOVES_relaxed.owl
MONDO:0001668	biolink:NamedThing	internal pathological resorption of tooth		DOVES_relaxed.owl
MONDO:0001670	biolink:NamedThing	tooth resorption	Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)	DOVES_relaxed.owl
MONDO:0001988	biolink:NamedThing	external pathological resorption		DOVES_relaxed.owl
MONDO:0001997	biolink:NamedThing	root resorption	Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0004038	biolink:NamedThing	dental enamel hypoplasia	Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth.	DOVES_relaxed.owl
MONDO:0004059	biolink:NamedThing	dentin sensitivity	Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli.	DOVES_relaxed.owl
MONDO:0006790	biolink:NamedThing	hypercementosis	A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0015613	biolink:NamedThing	dentin dysplasia	Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.	DOVES_relaxed.owl
MONDO:0001676	biolink:NamedThing	erythropoietic protoporphyria	A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.	DOVES_relaxed.owl
MONDO:0007369	biolink:NamedThing	hereditary coproporphyria	A form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.	DOVES_relaxed.owl
MONDO:0008297	biolink:NamedThing	variegate porphyria	Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.	DOVES_relaxed.owl
MONDO:0013000	biolink:NamedThing	porphyria due to ALA dehydratase deficiency	Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations.	DOVES_relaxed.owl
MONDO:0019800	biolink:NamedThing	chronic hepatic porphyria	Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare).	DOVES_relaxed.owl
MONDO:0019142	biolink:NamedThing	inherited porphyria	Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.	DOVES_relaxed.owl
MONDO:0017231	biolink:NamedThing	erythropoietic uroporphyria associated with myeloid malignancy		DOVES_relaxed.owl
MONDO:0022714	biolink:NamedThing	chester porphyria	Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic.	DOVES_relaxed.owl
MONDO:0100498	biolink:NamedThing	UROD-related inherited porphyria	Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene.	DOVES_relaxed.owl
MONDO:0800180	biolink:NamedThing	CPOX-related hereditary coproporphyria	Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the CPOX gene.	DOVES_relaxed.owl
MONDO:0006000	biolink:NamedThing	tuberculous peritonitis	A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia.	DOVES_relaxed.owl
MONDO:0002363	biolink:NamedThing	papilloma	A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma.	DOVES_relaxed.owl
MONDO:0002060	biolink:NamedThing	intraductal papilloma	An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma.	DOVES_relaxed.owl
MONDO:0002362	biolink:NamedThing	serous surface papilloma	A non-invasive papillary serous epithelial neoplasm usually arising from the ovary.	DOVES_relaxed.owl
MONDO:0002534	biolink:NamedThing	fallopian tube papilloma	A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells.	DOVES_relaxed.owl
MONDO:0002535	biolink:NamedThing	verrucous papilloma	A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance.	DOVES_relaxed.owl
MONDO:0002537	biolink:NamedThing	inverted papilloma	An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses.	DOVES_relaxed.owl
MONDO:0004787	biolink:NamedThing	cervical mullerian papilloma	A rare, benign, papillary neoplasm that arises from the cervix. It is characterized by the presence of a fibrovascular core covered by mucinous epithelial cells.	DOVES_relaxed.owl
MONDO:0005605	biolink:NamedThing	transitional cell papilloma	A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity.	DOVES_relaxed.owl
MONDO:0006278	biolink:NamedThing	lung papilloma	A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction.	DOVES_relaxed.owl
MONDO:0009837	biolink:NamedThing	choroid plexus papilloma	Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.	DOVES_relaxed.owl
MONDO:0021276	biolink:NamedThing	papilloma of buccal mucosa	A papilloma that involves the buccal mucosa.	DOVES_relaxed.owl
MONDO:0001682	biolink:NamedThing	diphtheritic peritonitis	A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae.	DOVES_relaxed.owl
MONDO:0001685	biolink:NamedThing	chronic follicular conjunctivitis		DOVES_relaxed.owl
MONDO:0001690	biolink:NamedThing	parasitic conjunctivitis		DOVES_relaxed.owl
MONDO:0002313	biolink:NamedThing	vernal conjunctivitis	Inflammation of the cornea that is seasonal in nature.	DOVES_relaxed.owl
MONDO:0004811	biolink:NamedThing	simple chronic conjunctivitis		DOVES_relaxed.owl
MONDO:0019946	biolink:NamedThing	ligneous conjunctivitis	Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia.	DOVES_relaxed.owl
MONDO:0001686	biolink:NamedThing	anatomical narrow angle borderline glaucoma		DOVES_relaxed.owl
MONDO:0001996	biolink:NamedThing	steroid-induced glaucoma - borderline		DOVES_relaxed.owl
MONDO:0001689	biolink:NamedThing	hypertrophy of tongue papillae		DOVES_relaxed.owl
MONDO:0006777	biolink:NamedThing	hairy tongue	A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black.	DOVES_relaxed.owl
MONDO:0007655	biolink:NamedThing	fissured tongue		DOVES_relaxed.owl
MONDO:0015384	biolink:NamedThing	digestive duplication cyst of the tongue	Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.	DOVES_relaxed.owl
MONDO:0001694	biolink:NamedThing	diffuse interstitial keratitis		DOVES_relaxed.owl
MONDO:0001700	biolink:NamedThing	megaloblastic anemia	Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs.	DOVES_relaxed.owl
MONDO:0007925	biolink:NamedThing	myelodysplastic syndrome associated with isolated del(5q)	A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0016595	biolink:NamedThing	inhalational anthrax	A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.	DOVES_relaxed.owl
MONDO:0045047	biolink:NamedThing	neurosarcoidosis	A sarcoidosis that involves the nervous system.	DOVES_relaxed.owl
MONDO:0001707	biolink:NamedThing	cardiac sarcoidosis	Sarcoidosis affecting the tissues of the heart.	DOVES_relaxed.owl
MONDO:0016345	biolink:NamedThing	non-familial restrictive cardiomyopathy		DOVES_relaxed.owl
MONDO:0018018	biolink:NamedThing	wild type ATTR amyloidosis		DOVES_relaxed.owl
MONDO:0019158	biolink:NamedThing	tropical endomyocardial fibrosis	Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.	DOVES_relaxed.owl
MONDO:0019159	biolink:NamedThing	Loeffler endocarditis	Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma.	DOVES_relaxed.owl
MONDO:0019338	biolink:NamedThing	sarcoidosis	Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.	DOVES_relaxed.owl
MONDO:0001708	biolink:NamedThing	pulmonary sarcoidosis	Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss.	DOVES_relaxed.owl
MONDO:0001709	biolink:NamedThing	hypercalcemic sarcoidosis	Sarcoidosis with a complication of hypercalcemia.	DOVES_relaxed.owl
MONDO:0006611	biolink:NamedThing	skin sarcoidosis	Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation.	DOVES_relaxed.owl
MONDO:0007011	biolink:NamedThing	uveoparotid fever	A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea.	DOVES_relaxed.owl
MONDO:0020666	biolink:NamedThing	Löfgren syndrome	A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain.	DOVES_relaxed.owl
MONDO:0017026	biolink:NamedThing	interstitial lung disease specific to adulthood		DOVES_relaxed.owl
MONDO:0017027	biolink:NamedThing	primary interstitial lung disease specific to adulthood		DOVES_relaxed.owl
MONDO:0017029	biolink:NamedThing	Langerhans cell histiocytosis specific to adulthood	Langerhans cell histiocytosis that occurs during adulthood.	DOVES_relaxed.owl
MONDO:0001710	biolink:NamedThing	perforation of bile duct	A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes.	DOVES_relaxed.owl
MONDO:0002887	biolink:NamedThing	bile duct disorder	A disease involving the bile duct.	DOVES_relaxed.owl
MONDO:0001751	biolink:NamedThing	cholestasis	Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system.	DOVES_relaxed.owl
MONDO:0002886	biolink:NamedThing	common bile duct disorder	A disease involving the common bile duct.	DOVES_relaxed.owl
MONDO:0018805	biolink:NamedThing	bile duct cyst	Cystic dilatation of the hepatic duct or bile duct.	DOVES_relaxed.owl
MONDO:0021662	biolink:NamedThing	bile duct neoplasm	A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma.	DOVES_relaxed.owl
MONDO:0041959	biolink:NamedThing	fibrosis of bile duct		DOVES_relaxed.owl
MONDO:0005489	biolink:NamedThing	dyslexia	A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension.	DOVES_relaxed.owl
MONDO:0015610	biolink:NamedThing	acquired aplastic anemia	An instance of aplastic anemia that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0001714	biolink:NamedThing	bejel	A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum.	DOVES_relaxed.owl
MONDO:0002896	biolink:NamedThing	primary syphilis	The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks.	DOVES_relaxed.owl
MONDO:0002897	biolink:NamedThing	secondary syphilis	The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage.	DOVES_relaxed.owl
MONDO:0005822	biolink:NamedThing	latent syphilis	A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease.	DOVES_relaxed.owl
MONDO:0006992	biolink:NamedThing	syphilitic aortitis	Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm.	DOVES_relaxed.owl
MONDO:0007025	biolink:NamedThing	chancre	The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection.	DOVES_relaxed.owl
MONDO:0001715	biolink:NamedThing	basilar artery occlusion		DOVES_relaxed.owl
MONDO:0001720	biolink:NamedThing	gonococcal synovitis	An synovitis (disease) caused by infection with Neisseria gonorrhoeae.	DOVES_relaxed.owl
MONDO:0001722	biolink:NamedThing	central pterygium		DOVES_relaxed.owl
MONDO:0001723	biolink:NamedThing	progressive peripheral pterygium		DOVES_relaxed.owl
MONDO:0004109	biolink:NamedThing	epiglottis neoplasm	A benign or malignant neoplasm that affects the epiglottis.	DOVES_relaxed.owl
MONDO:0001727	biolink:NamedThing	active cochleovestibular Meniere disease		DOVES_relaxed.owl
MONDO:0007972	biolink:NamedThing	Meniere disease	A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops.	DOVES_relaxed.owl
MONDO:0001728	biolink:NamedThing	active vestibular Meniere disease		DOVES_relaxed.owl
MONDO:0001729	biolink:NamedThing	active cochlear Meniere disease		DOVES_relaxed.owl
MONDO:0006951	biolink:NamedThing	retinal vein occlusion	An occlusion of the retinal vein.	DOVES_relaxed.owl
MONDO:0002088	biolink:NamedThing	partial retinal vein occlusion		DOVES_relaxed.owl
MONDO:0016756	biolink:NamedThing	inherited nervous system cancer-predisposing syndrome		DOVES_relaxed.owl
MONDO:0008840	biolink:NamedThing	ataxia telangiectasia	Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.	DOVES_relaxed.owl
MONDO:0007534	biolink:NamedThing	Beckwith-Wiedemann syndrome	Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.	DOVES_relaxed.owl
MONDO:0008681	biolink:NamedThing	WAGR syndrome	WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.	DOVES_relaxed.owl
MONDO:0009965	biolink:NamedThing	Perlman syndrome	Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0011578	biolink:NamedThing	familial papillary thyroid carcinoma with renal papillary neoplasia	Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC).	DOVES_relaxed.owl
MONDO:0011584	biolink:NamedThing	Fanconi anemia complementation group D1	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.	DOVES_relaxed.owl
MONDO:0018445	biolink:NamedThing	global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome		DOVES_relaxed.owl
MONDO:0018492	biolink:NamedThing	hereditary clear cell renal cell carcinoma	A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common.	DOVES_relaxed.owl
MONDO:0042983	biolink:NamedThing	neurocutaneous syndrome	A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.	DOVES_relaxed.owl
MONDO:0008667	biolink:NamedThing	von Hippel-Lindau disease	A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.	DOVES_relaxed.owl
MONDO:0018892	biolink:NamedThing	Wyburn-Mason syndrome	Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.	DOVES_relaxed.owl
MONDO:0006828	biolink:NamedThing	nasal cavity and paranasal sinus lethal midline granuloma	An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma.	DOVES_relaxed.owl
MONDO:0010528	biolink:NamedThing	anosmia	Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions.	DOVES_relaxed.owl
MONDO:0010921	biolink:NamedThing	nasal dermoid cyst	A dermoid cyst that involves the nose.	DOVES_relaxed.owl
MONDO:0001736	biolink:NamedThing	neonatal infective mastitis		DOVES_relaxed.owl
MONDO:0001737	biolink:NamedThing	tetanus neonatorum	A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production.	DOVES_relaxed.owl
MONDO:0002466	biolink:NamedThing	eye carcinoma	A carcinoma that arises from epithelial cells of the eye	DOVES_relaxed.owl
MONDO:0002463	biolink:NamedThing	lacrimal gland carcinoma	A carcinoma that arises from epithelial cells of the lacrimal gland.	DOVES_relaxed.owl
MONDO:0006327	biolink:NamedThing	ocular sebaceous carcinoma	Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases.	DOVES_relaxed.owl
MONDO:0003802	biolink:NamedThing	cornea cancer	A malignant neoplasm involving the cornea.	DOVES_relaxed.owl
MONDO:0001742	biolink:NamedThing	interval angle-closure glaucoma		DOVES_relaxed.owl
MONDO:0001868	biolink:NamedThing	primary angle-closure glaucoma	An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.	DOVES_relaxed.owl
MONDO:0001864	biolink:NamedThing	residual stage angle-closure glaucoma		DOVES_relaxed.owl
MONDO:0001966	biolink:NamedThing	chronic closed-angle glaucoma	Chronic form of angle-closure glaucoma.	DOVES_relaxed.owl
MONDO:0001746	biolink:NamedThing	optic disk drusen	Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)	DOVES_relaxed.owl
MONDO:0002003	biolink:NamedThing	papilledema	Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor.	DOVES_relaxed.owl
MONDO:0001748	biolink:NamedThing	maxillary sinus carcinoma	A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma.	DOVES_relaxed.owl
MONDO:0001756	biolink:NamedThing	frontal sinus cancer	A malignant neoplasm involving the frontal sinus.	DOVES_relaxed.owl
MONDO:0001763	biolink:NamedThing	ethmoid sinus cancer	A malignant neoplasm involving the ethmoid sinus.	DOVES_relaxed.owl
MONDO:0001994	biolink:NamedThing	sphenoidal sinus cancer	A malignant neoplasm involving the sphenoidal sinus.	DOVES_relaxed.owl
MONDO:0004682	biolink:NamedThing	retromolar area cancer	A malignant form of neoplasm of retromolar area.	DOVES_relaxed.owl
MONDO:0005837	biolink:NamedThing	mandibular cancer	A malignant neoplasm involving the mandible	DOVES_relaxed.owl
MONDO:0005192	biolink:NamedThing	exocrine pancreatic carcinoma	A carcinoma that arises from epithelial cells of the exocrine pancreas	DOVES_relaxed.owl
MONDO:0006182	biolink:NamedThing	digestive system mixed adenoneuroendocrine carcinoma	A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made.	DOVES_relaxed.owl
MONDO:0018531	biolink:NamedThing	carcinoma of liver and intrahepatic biliary tract	A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma.	DOVES_relaxed.owl
MONDO:0021343	biolink:NamedThing	carcinoma of floor of mouth	A carcinoma that involves the mouth floor.	DOVES_relaxed.owl
MONDO:0024331	biolink:NamedThing	colorectal carcinoma	A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.	DOVES_relaxed.owl
MONDO:0006850	biolink:NamedThing	maxillary sinus neoplasm	A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	DOVES_relaxed.owl
MONDO:0001749	biolink:NamedThing	cortical senile cataract	A senile cataract that involves the lens cortex.	DOVES_relaxed.owl
MONDO:0001847	biolink:NamedThing	nuclear senile cataract	A senile cataract that involves the lens nucleus.	DOVES_relaxed.owl
MONDO:0001754	biolink:NamedThing	eclampsia	A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures.	DOVES_relaxed.owl
MONDO:0045048	biolink:NamedThing	toxemia of pregnancy	A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.	DOVES_relaxed.owl
MONDO:0001757	biolink:NamedThing	frontal sinus neoplasm	A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	DOVES_relaxed.owl
MONDO:0005289	biolink:NamedThing	paranasal sinus neoplasm	A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	DOVES_relaxed.owl
MONDO:0001764	biolink:NamedThing	ethmoidal sinus neoplasm	A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	DOVES_relaxed.owl
MONDO:0043459	biolink:NamedThing	radiation-induced disorder	A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas.	DOVES_relaxed.owl
MONDO:0002470	biolink:NamedThing	photosensitive trichothiodystrophy	A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway	DOVES_relaxed.owl
MONDO:0015643	biolink:NamedThing	photosensitive epilepsy	An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.	DOVES_relaxed.owl
MONDO:0033838	biolink:NamedThing	radiation-induced plexopathy		DOVES_relaxed.owl
MONDO:0043458	biolink:NamedThing	radiation injury	Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES.	DOVES_relaxed.owl
MONDO:0043735	biolink:NamedThing	osteoradionecrosis	Necrosis of bone following radiation injury.	DOVES_relaxed.owl
MONDO:0043771	biolink:NamedThing	radiodermatitis	A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation.	DOVES_relaxed.owl
MONDO:0043919	biolink:NamedThing	radiation pneumonitis	Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation.	DOVES_relaxed.owl
MONDO:0001761	biolink:NamedThing	favism	A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis.	DOVES_relaxed.owl
MONDO:0005775	biolink:NamedThing	G6PD deficiency	An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs.	DOVES_relaxed.owl
MONDO:0040671	biolink:NamedThing	class V glucose-6-phosphate dehydrogenase deficiency		DOVES_relaxed.owl
MONDO:0001762	biolink:NamedThing	dentine erosion	A tooth erosion, non-bacterial that involves the dentine.	DOVES_relaxed.owl
MONDO:0004014	biolink:NamedThing	ethmoid sinus ectopic meningioma	An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus.	DOVES_relaxed.owl
MONDO:0001769	biolink:NamedThing	acquired tear duct stenosis		DOVES_relaxed.owl
MONDO:0001833	biolink:NamedThing	lacrimal duct obstruction	Blockage of the tear duct.	DOVES_relaxed.owl
MONDO:0001770	biolink:NamedThing	gastrin secretion abnormality		DOVES_relaxed.owl
MONDO:0001962	biolink:NamedThing	abnormality of glucagon secretion		DOVES_relaxed.owl
MONDO:0002239	biolink:NamedThing	post-surgical hypoinsulinemia		DOVES_relaxed.owl
MONDO:0004058	biolink:NamedThing	pancreatic cholera	A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells.	DOVES_relaxed.owl
MONDO:0012520	biolink:NamedThing	insulin-resistance syndrome type A	Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.	DOVES_relaxed.owl
MONDO:0016464	biolink:NamedThing	insulin-resistance syndrome type B	Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction.	DOVES_relaxed.owl
MONDO:0002127	biolink:NamedThing	urethral stricture	Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms.	DOVES_relaxed.owl
MONDO:0001773	biolink:NamedThing	post-vaccinal encephalitis	An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)	DOVES_relaxed.owl
MONDO:0005845	biolink:NamedThing	meningoencephalitis	Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan.	DOVES_relaxed.owl
MONDO:0015588	biolink:NamedThing	limbic encephalitis	A group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy.	DOVES_relaxed.owl
MONDO:0020640	biolink:NamedThing	autoimmune encephalitis	Inflammation of the brain secondary to an immune response triggered by the body itself.	DOVES_relaxed.owl
MONDO:0850104	biolink:NamedThing	paraneoplastic isolated brainstem encephalitis		DOVES_relaxed.owl
MONDO:0001774	biolink:NamedThing	posterior scleritis		DOVES_relaxed.owl
MONDO:0001804	biolink:NamedThing	anterior scleritis		DOVES_relaxed.owl
MONDO:0006884	biolink:NamedThing	panophthalmitis	Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture.	DOVES_relaxed.owl
MONDO:0040699	biolink:NamedThing	necrotizing scleritis	A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern.	DOVES_relaxed.owl
MONDO:0001775	biolink:NamedThing	chronic duodenal ileus		DOVES_relaxed.owl
MONDO:0002688	biolink:NamedThing	duodenal obstruction	Blockage of the normal flow of stomach contents through the duodenum.	DOVES_relaxed.owl
MONDO:0043166	biolink:NamedThing	pancreatic lipomatosis duodenal stenosis		DOVES_relaxed.owl
MONDO:0004828	biolink:NamedThing	lower urinary tract calculus	A urolithiasis that involves the lower urinary tract.	DOVES_relaxed.owl
MONDO:0001777	biolink:NamedThing	acute gonococcal cystitis	Acute form of gonococcal cystitis.	DOVES_relaxed.owl
MONDO:0001778	biolink:NamedThing	dermoid cyst of skin	A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure.	DOVES_relaxed.owl
MONDO:0002378	biolink:NamedThing	dermoid cyst	A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin.	DOVES_relaxed.owl
MONDO:0008167	biolink:NamedThing	dermoid cyst of ovary	A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral.	DOVES_relaxed.owl
MONDO:0015380	biolink:NamedThing	facial dermoid cyst	Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.	DOVES_relaxed.owl
MONDO:0002300	biolink:NamedThing	dermis tumor	A benign, intermediate, or malignant neoplasm that arises from the dermis.	DOVES_relaxed.owl
MONDO:0004134	biolink:NamedThing	benign dermal neurilemmoma		DOVES_relaxed.owl
MONDO:0005173	biolink:NamedThing	actinic keratosis	A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants.	DOVES_relaxed.owl
MONDO:0007476	biolink:NamedThing	familial Dupuytren contracture	Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared).	DOVES_relaxed.owl
MONDO:0021424	biolink:NamedThing	hemangiopericytoma of skin	A hemangiopericytoma that involves the zone of skin.	DOVES_relaxed.owl
MONDO:0021583	biolink:NamedThing	melanocytic skin neoplasm	A melanocytic neoplasm that involves the zone of skin.	DOVES_relaxed.owl
MONDO:0021634	biolink:NamedThing	epithelial skin neoplasm	A epithelial neoplasm that involves the zone of skin.	DOVES_relaxed.owl
MONDO:0022057	biolink:NamedThing	calcifying epithelial odontogenic tumor	A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases.	DOVES_relaxed.owl
MONDO:0001781	biolink:NamedThing	uterine corpus adenomatoid tumor	A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures.	DOVES_relaxed.owl
MONDO:0002112	biolink:NamedThing	benign peritoneal mesothelioma	A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent.	DOVES_relaxed.owl
MONDO:0003328	biolink:NamedThing	fallopian tube adenomatoid tumor	A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding.	DOVES_relaxed.owl
MONDO:0004227	biolink:NamedThing	epididymal adenomatoid tumor	A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis.	DOVES_relaxed.owl
MONDO:0004230	biolink:NamedThing	adenomatoid tumor	A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis.	DOVES_relaxed.owl
MONDO:0003237	biolink:NamedThing	adenomyoma of uterine corpus	A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue.	DOVES_relaxed.owl
MONDO:0003458	biolink:NamedThing	uterine corpus adenofibroma	A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core.	DOVES_relaxed.owl
MONDO:0004526	biolink:NamedThing	mixed endometrial stromal and smooth muscle tumor	A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma.	DOVES_relaxed.owl
MONDO:0004221	biolink:NamedThing	uterine corpus perivascular epithelioid cell tumor	A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall.	DOVES_relaxed.owl
MONDO:0016260	biolink:NamedThing	uterine corpus rhabdomyosarcoma	A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor.	DOVES_relaxed.owl
MONDO:0016262	biolink:NamedThing	leiomyosarcoma of the corpus uteri	An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0001790	biolink:NamedThing	spinal cord lipoma	A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare.	DOVES_relaxed.owl
MONDO:0003843	biolink:NamedThing	cerebral hemisphere lipoma	A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum.	DOVES_relaxed.owl
MONDO:0003943	biolink:NamedThing	central nervous system hibernoma	A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system.	DOVES_relaxed.owl
MONDO:0002717	biolink:NamedThing	spinal cord intramedullary teratoma		DOVES_relaxed.owl
MONDO:0001792	biolink:NamedThing	epiphora due to insufficient drainage		DOVES_relaxed.owl
MONDO:0001918	biolink:NamedThing	epiphora due to excess lacrimation		DOVES_relaxed.owl
MONDO:0003472	biolink:NamedThing	lice infestation	A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash.	DOVES_relaxed.owl
MONDO:0003471	biolink:NamedThing	Pediculus humanus capitis infestation	A infectious disease involving Pediculus humanus capitis.	DOVES_relaxed.owl
MONDO:0003482	biolink:NamedThing	Pediculus humanus corporis infestation	A infectious disease involving the Pediculus humanus corporis.	DOVES_relaxed.owl
MONDO:0002594	biolink:NamedThing	monkeypox	An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks.	DOVES_relaxed.owl
MONDO:0004656	biolink:NamedThing	rubella	A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body.	DOVES_relaxed.owl
MONDO:0005161	biolink:NamedThing	human papilloma virus infection	An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth.	DOVES_relaxed.owl
MONDO:0005194	biolink:NamedThing	Rotavirus infection	Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice.	DOVES_relaxed.owl
MONDO:0005641	biolink:NamedThing	aleutian mink disease	A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible.	DOVES_relaxed.owl
MONDO:0005658	biolink:NamedThing	Astroviridae infectious disease	Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets.	DOVES_relaxed.owl
MONDO:0005687	biolink:NamedThing	Caliciviridae infectious disease	Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans.	DOVES_relaxed.owl
MONDO:0005720	biolink:NamedThing	cowpox	A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal.	DOVES_relaxed.owl
MONDO:0005786	biolink:NamedThing	Hepadnaviridae infectious disease	Virus diseases caused by the hepadnaviridae.	DOVES_relaxed.owl
MONDO:0005794	biolink:NamedThing	Herpesviridae infectious disease	Virus diseases caused by the herpesviridae.	DOVES_relaxed.owl
MONDO:0005876	biolink:NamedThing	Nidovirales infectious disease	Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections.	DOVES_relaxed.owl
MONDO:0005914	biolink:NamedThing	Picornaviridae infectious disease	Virus diseases caused by the picornaviridae.	DOVES_relaxed.owl
MONDO:0005927	biolink:NamedThing	polyomavirus infectious disease	Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal).	DOVES_relaxed.owl
MONDO:0005985	biolink:NamedThing	Togaviridae infectious disease	Virus diseases caused by the togaviridae.	DOVES_relaxed.owl
MONDO:0021184	biolink:NamedThing	deltaretrovirus infections	Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED).	DOVES_relaxed.owl
MONDO:0021682	biolink:NamedThing	viral sexually transmitted disease	Viral diseases which are potentially transmitted or propagated by sexual conduct.	DOVES_relaxed.owl
MONDO:0022034	biolink:NamedThing	lentivirus infection	Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection.	DOVES_relaxed.owl
MONDO:0021697	biolink:NamedThing	chlamydia infectious disease	Infections with bacteria of the genus CHLAMYDIA.	DOVES_relaxed.owl
MONDO:0002532	biolink:NamedThing	squamous cell neoplasm	A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example.	DOVES_relaxed.owl
MONDO:0003495	biolink:NamedThing	ovarian squamous cell neoplasm	A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor.	DOVES_relaxed.owl
MONDO:0024475	biolink:NamedThing	squamous cell intraepithelial neoplasia		DOVES_relaxed.owl
MONDO:0001812	biolink:NamedThing	parasitic eyelid infestation		DOVES_relaxed.owl
MONDO:0001813	biolink:NamedThing	squamous blepharitis		DOVES_relaxed.owl
MONDO:0002137	biolink:NamedThing	noninfectious dermatoses of eyelid		DOVES_relaxed.owl
MONDO:0004799	biolink:NamedThing	ulcerative blepharitis		DOVES_relaxed.owl
MONDO:0005878	biolink:NamedThing	ocular onchocerciasis	Onchocerciasis affecting the eye.	DOVES_relaxed.owl
MONDO:0005879	biolink:NamedThing	ocular toxoplasmosis	Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids.	DOVES_relaxed.owl
MONDO:0001818	biolink:NamedThing	facial neuralgia	Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions.	DOVES_relaxed.owl
MONDO:0016371	biolink:NamedThing	combined hyperactive dysfunction syndrome of the cranial nerves		DOVES_relaxed.owl
MONDO:0003100	biolink:NamedThing	nerve plexus neoplasm	A neoplasm (disease) that involves the nerve plexus.	DOVES_relaxed.owl
MONDO:0001848	biolink:NamedThing	Morgagni cataract	A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag.	DOVES_relaxed.owl
MONDO:0001853	biolink:NamedThing	contact blepharoconjunctivitis		DOVES_relaxed.owl
MONDO:0002306	biolink:NamedThing	angular blepharoconjunctivitis	A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area.	DOVES_relaxed.owl
MONDO:0002308	biolink:NamedThing	giant papillary conjunctivitis	Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva.	DOVES_relaxed.owl
MONDO:0001859	biolink:NamedThing	algoneurodystrophy		DOVES_relaxed.owl
MONDO:0019369	biolink:NamedThing	complex regional pain syndrome	Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb.	DOVES_relaxed.owl
MONDO:0001867	biolink:NamedThing	phaeohyphomycosis	An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions.	DOVES_relaxed.owl
MONDO:0005772	biolink:NamedThing	geotrichosis	Infection due to the fungus Geotrichum.	DOVES_relaxed.owl
MONDO:0016426	biolink:NamedThing	fusariosis	Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.	DOVES_relaxed.owl
MONDO:0045037	biolink:NamedThing	hyalohyphomycosis	An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host.	DOVES_relaxed.owl
MONDO:0002461	biolink:NamedThing	membranoproliferative glomerulonephritis	Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli.	DOVES_relaxed.owl
MONDO:0003133	biolink:NamedThing	exudative glomerulonephritis	Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes.	DOVES_relaxed.owl
MONDO:0003135	biolink:NamedThing	focal embolic glomerulonephritis	Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia.	DOVES_relaxed.owl
MONDO:0003136	biolink:NamedThing	anti-basement membrane glomerulonephritis	Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function.	DOVES_relaxed.owl
MONDO:0003137	biolink:NamedThing	diffuse glomerulonephritis	Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure.	DOVES_relaxed.owl
MONDO:0003139	biolink:NamedThing	mesangial proliferative glomerulonephritis	Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure.	DOVES_relaxed.owl
MONDO:0003140	biolink:NamedThing	immune-complex glomerulonephritis	Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function.	DOVES_relaxed.owl
MONDO:0005342	biolink:NamedThing	IgA glomerulonephritis	Inflammation of a specific segment of glomeruli within the kidney.	DOVES_relaxed.owl
MONDO:0005376	biolink:NamedThing	membranous glomerulonephritis	A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome.	DOVES_relaxed.owl
MONDO:0005556	biolink:NamedThing	lupus nephritis	Glomerulonephritis in the context of systemic lupus erythematosus.	DOVES_relaxed.owl
MONDO:0006835	biolink:NamedThing	lipoid nephrosis	A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome.	DOVES_relaxed.owl
MONDO:0018904	biolink:NamedThing	primary membranoproliferative glomerulonephritis	A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.	DOVES_relaxed.owl
MONDO:0019641	biolink:NamedThing	pauci-immune glomerulonephritis	Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA.	DOVES_relaxed.owl
MONDO:0019991	biolink:NamedThing	immunotactoid glomerulopathy	Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases.	DOVES_relaxed.owl
MONDO:0021260	biolink:NamedThing	sensory ganglionopathy	A disease or disorder that involves the sensory ganglion.	DOVES_relaxed.owl
MONDO:0016172	biolink:NamedThing	acquired sensory ganglionopathy	An instance of sensory ganglionopathy that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0001876	biolink:NamedThing	renal artery atheroma	A atherosclerosis that involves the renal artery.	DOVES_relaxed.owl
MONDO:0006044	biolink:NamedThing	nephrosclerosis	Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia.	DOVES_relaxed.owl
MONDO:0006945	biolink:NamedThing	renal artery obstruction	Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular).	DOVES_relaxed.owl
MONDO:0001877	biolink:NamedThing	infertility due to extratesticular cause		DOVES_relaxed.owl
MONDO:0001913	biolink:NamedThing	oligospermia	Decreased number of spermatozoa in the semen.	DOVES_relaxed.owl
MONDO:0009049	biolink:NamedThing	Cushing syndrome due to macronodular adrenal hyperplasia	A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.	DOVES_relaxed.owl
MONDO:0009420	biolink:NamedThing	primary hypergonadotropic hypogonadism-partial alopecia syndrome	This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.	DOVES_relaxed.owl
MONDO:0009857	biolink:NamedThing	persistent Mullerian duct syndrome	Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.	DOVES_relaxed.owl
MONDO:0009916	biolink:NamedThing	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.	DOVES_relaxed.owl
MONDO:0015607	biolink:NamedThing	partial chromosome Y deletion	Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.	DOVES_relaxed.owl
MONDO:0015779	biolink:NamedThing	45,X/46,XY mixed gonadal dysgenesis	45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.	DOVES_relaxed.owl
MONDO:0016385	biolink:NamedThing	hypogonadism-mitral valve prolapse-intellectual disability syndrome	This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.	DOVES_relaxed.owl
MONDO:0016674	biolink:NamedThing	46,XY partial gonadal dysgenesis	46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.	DOVES_relaxed.owl
MONDO:0017173	biolink:NamedThing	non-syndromic male infertility due to sperm motility disorder	Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.	DOVES_relaxed.owl
MONDO:0017967	biolink:NamedThing	testicular agenesis		DOVES_relaxed.owl
MONDO:0017973	biolink:NamedThing	non-classic congenital lipoid adrenal hyperplasia due to STAR deficency		DOVES_relaxed.owl
MONDO:0018393	biolink:NamedThing	male infertility with azoospermia or oligozoospermia due to single gene mutation	Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.	DOVES_relaxed.owl
MONDO:0018394	biolink:NamedThing	male infertility with teratozoospermia due to single gene mutation	Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.	DOVES_relaxed.owl
MONDO:0019928	biolink:NamedThing	48,XXXY syndrome	The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.	DOVES_relaxed.owl
MONDO:0019929	biolink:NamedThing	49,XXXXY syndrome	The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.	DOVES_relaxed.owl
MONDO:0020469	biolink:NamedThing	48,XYYY syndrome	48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.	DOVES_relaxed.owl
MONDO:0023554	biolink:NamedThing	acquired testicular failure	Testicular failure, the cause of which is not present at birth.	DOVES_relaxed.owl
MONDO:0035153	biolink:NamedThing	male infertility due to acephalic spermatozoa		DOVES_relaxed.owl
MONDO:0042605	biolink:NamedThing	Y chromosome infertility due to DAZ1 deletion		DOVES_relaxed.owl
MONDO:0100249	biolink:NamedThing	46,XX testicular disorder of sex development	46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.	DOVES_relaxed.owl
MONDO:0100459	biolink:NamedThing	azoospermia	A male infertility disease characterized by the absence of any measurable level of sperm in semen.	DOVES_relaxed.owl
MONDO:8000017	biolink:NamedThing	testicular regression syndrome	A developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.	DOVES_relaxed.owl
MONDO:0001878	biolink:NamedThing	acquired hypertrophic pyloric stenosis	An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0001879	biolink:NamedThing	anus cancer	A malignant neoplasm involving the anus	DOVES_relaxed.owl
MONDO:0003045	biolink:NamedThing	anal gland neoplasm	Tumors or cancer of the anal gland.	DOVES_relaxed.owl
MONDO:0021469	biolink:NamedThing	benign neoplasm of anus	A benign neoplasm that involves the anus.	DOVES_relaxed.owl
MONDO:0006519	biolink:NamedThing	rectal cancer	A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma.	DOVES_relaxed.owl
MONDO:0002166	biolink:NamedThing	rectum lymphoma	An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas.	DOVES_relaxed.owl
MONDO:0002168	biolink:NamedThing	rectum sarcoma	A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.	DOVES_relaxed.owl
MONDO:0002425	biolink:NamedThing	rectosigmoid junction cancer	A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma.	DOVES_relaxed.owl
MONDO:0001880	biolink:NamedThing	median rhomboid glossitis		DOVES_relaxed.owl
MONDO:0001989	biolink:NamedThing	atrophic glossitis		DOVES_relaxed.owl
MONDO:0005631	biolink:NamedThing	actinomycosis	Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious.	DOVES_relaxed.owl
MONDO:0015306	biolink:NamedThing	Lemierre syndrome	Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.	DOVES_relaxed.owl
MONDO:0001882	biolink:NamedThing	bacteriuria	The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection.	DOVES_relaxed.owl
MONDO:0002118	biolink:NamedThing	urinary system disorder	A disease involving the renal system.	DOVES_relaxed.owl
MONDO:0001926	biolink:NamedThing	ureteral disorder	A non-neoplastic or neoplastic disorder affecting the ureter.	DOVES_relaxed.owl
MONDO:0001953	biolink:NamedThing	pyuria	The presence of excessive white blood cells in the urine as determined by urinalysis.	DOVES_relaxed.owl
MONDO:0003330	biolink:NamedThing	urinary tract obstruction	Blockage of the normal flow of contents of the urinary tract.	DOVES_relaxed.owl
MONDO:0024483	biolink:NamedThing	urothelial hyperplasia	Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003	DOVES_relaxed.owl
MONDO:0024647	biolink:NamedThing	urolithiasis	Stone(s) within the urinary tract.	DOVES_relaxed.owl
MONDO:0001883	biolink:NamedThing	blue toe syndrome	A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation.	DOVES_relaxed.owl
MONDO:0001888	biolink:NamedThing	anus lymphoma	A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men.	DOVES_relaxed.owl
MONDO:0003199	biolink:NamedThing	anal carcinoma	A carcinoma that arises from epithelial cells of the anus	DOVES_relaxed.owl
MONDO:0002775	biolink:NamedThing	anovulation	The absence of ovulation.	DOVES_relaxed.owl
MONDO:0004194	biolink:NamedThing	ovarian stromal hyperthecosis	A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels.	DOVES_relaxed.owl
MONDO:0011972	biolink:NamedThing	ovarian hyperstimulation syndrome	A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries.	DOVES_relaxed.owl
MONDO:0025956	biolink:NamedThing	ovarian remnant syndrome	Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function.	DOVES_relaxed.owl
MONDO:0044098	biolink:NamedThing	ovarian ectopic pregnancy	An abnormal pregnancy in which the conception is implanted on the ovary.	DOVES_relaxed.owl
MONDO:0001892	biolink:NamedThing	spinal cord lymphoma	A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion.	DOVES_relaxed.owl
MONDO:0044887	biolink:NamedThing	central nervous system non-hodgkin lymphoma	A non-Hodgkin lymphoma that arises from the central nervous system.	DOVES_relaxed.owl
MONDO:0001893	biolink:NamedThing	spinal cord melanoma	A melanoma (disease) that involves the spinal cord.	DOVES_relaxed.owl
MONDO:0001894	biolink:NamedThing	spinal cord sarcoma	A sarcoma that arises from the spinal cord.	DOVES_relaxed.owl
MONDO:0002542	biolink:NamedThing	spinal cord glioma	A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma.	DOVES_relaxed.owl
MONDO:0004151	biolink:NamedThing	spinal meninges cancer	A malignant neoplasm involving the meninx of spinal cord.	DOVES_relaxed.owl
MONDO:0006426	biolink:NamedThing	spinal cord primitive neuroectodermal tumor	A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord.	DOVES_relaxed.owl
MONDO:0044912	biolink:NamedThing	metastatic malignant neoplasm in the spinal cord	A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma.	DOVES_relaxed.owl
MONDO:0003761	biolink:NamedThing	leptomeningeal melanoma	A melanoma that arises from leptomeningeal melanocytes.	DOVES_relaxed.owl
MONDO:0004512	biolink:NamedThing	meningeal melanomatosis	A meningeal melanoma with secondary diffuse meningeal spread. (WHO)	DOVES_relaxed.owl
MONDO:0002216	biolink:NamedThing	brain sarcoma	A sarcoma arising from the brain.	DOVES_relaxed.owl
MONDO:0002850	biolink:NamedThing	central nervous system rhabdomyosarcoma	A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system.	DOVES_relaxed.owl
MONDO:0003349	biolink:NamedThing	central nervous system leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003882	biolink:NamedThing	central nervous system fibrosarcoma	A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	DOVES_relaxed.owl
MONDO:0004308	biolink:NamedThing	meningeal sarcoma	A rare sarcoma arising from the meninges.	DOVES_relaxed.owl
MONDO:0004392	biolink:NamedThing	intracranial extraskeletal myxoid chondrosarcoma	An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium.	DOVES_relaxed.owl
MONDO:0004423	biolink:NamedThing	central nervous system extraskeletal osteosarcoma	An osteosarcoma arising from the brain or spinal cord.	DOVES_relaxed.owl
MONDO:0001896	biolink:NamedThing	obstructive hydrocephalus	An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space.	DOVES_relaxed.owl
MONDO:0002045	biolink:NamedThing	communicating hydrocephalus	An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations.	DOVES_relaxed.owl
MONDO:0007401	biolink:NamedThing	craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome	Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.	DOVES_relaxed.owl
MONDO:0043164	biolink:NamedThing	palmer pagon syndrome		DOVES_relaxed.owl
MONDO:0001897	biolink:NamedThing	bilateral hyperactive labyrinth		DOVES_relaxed.owl
MONDO:0001959	biolink:NamedThing	labyrinthine bilateral reactive loss		DOVES_relaxed.owl
MONDO:0002106	biolink:NamedThing	labyrinthine unilateral reactive loss		DOVES_relaxed.owl
MONDO:0002107	biolink:NamedThing	unilateral hyperactive labyrinth		DOVES_relaxed.owl
MONDO:0003567	biolink:NamedThing	bilateral hypoactive labyrinth		DOVES_relaxed.owl
MONDO:0004801	biolink:NamedThing	unilateral hypoactive labyrinth		DOVES_relaxed.owl
MONDO:0005349	biolink:NamedThing	otosclerosis	Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs.	DOVES_relaxed.owl
MONDO:0008015	biolink:NamedThing	motion sickness	A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting.	DOVES_relaxed.owl
MONDO:0010576	biolink:NamedThing	X-linked mixed hearing loss with perilymphatic gusher	X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.	DOVES_relaxed.owl
MONDO:0022518	biolink:NamedThing	autoimmune inner ear disease	A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible.	DOVES_relaxed.owl
MONDO:0024320	biolink:NamedThing	inner ear neoplasm	A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma.	DOVES_relaxed.owl
MONDO:0002289	biolink:NamedThing	iris disorder	A disease involving the iris.	DOVES_relaxed.owl
MONDO:0021225	biolink:NamedThing	uvea neoplasm	A neoplasm (disease) that involves the uvea.	DOVES_relaxed.owl
MONDO:0001899	biolink:NamedThing	rheumatic congestive heart failure		DOVES_relaxed.owl
MONDO:0005009	biolink:NamedThing	congestive heart failure	Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.	DOVES_relaxed.owl
MONDO:0006727	biolink:NamedThing	diastolic heart failure	Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling.	DOVES_relaxed.owl
MONDO:0006993	biolink:NamedThing	systolic heart failure	Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying.	DOVES_relaxed.owl
MONDO:0001901	biolink:NamedThing	selective IgG subclass deficiency	A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria.	DOVES_relaxed.owl
MONDO:0015697	biolink:NamedThing	immunoglobulin heavy chain deficiency		DOVES_relaxed.owl
MONDO:0001905	biolink:NamedThing	bicipital tenosynovitis		DOVES_relaxed.owl
MONDO:0002517	biolink:NamedThing	tenosynovitis of foot and ankle		DOVES_relaxed.owl
MONDO:0001907	biolink:NamedThing	adult dermatomyositis	Dermatomyositis in an adult.	DOVES_relaxed.owl
MONDO:0008054	biolink:NamedThing	juvenile dermatomyositis	Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations.	DOVES_relaxed.owl
MONDO:0018359	biolink:NamedThing	neonatal dermatomyositis		DOVES_relaxed.owl
MONDO:0043317	biolink:NamedThing	amyopathic dermatomyositis	Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.	DOVES_relaxed.owl
MONDO:0001911	biolink:NamedThing	tracheal calcification	Abnormal deposits of calcium in the tracheal tissue.	DOVES_relaxed.owl
MONDO:0002568	biolink:NamedThing	tracheal stenosis	Narrowing of the lumen of the trachea.	DOVES_relaxed.owl
MONDO:0005002	biolink:NamedThing	chronic obstructive pulmonary disease	A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema.	DOVES_relaxed.owl
MONDO:0001914	biolink:NamedThing	scleromalacia perforans	A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur.	DOVES_relaxed.owl
MONDO:0001917	biolink:NamedThing	chronic perichondritis of pinna	Chronic form of perichondritis of auricle.	DOVES_relaxed.owl
MONDO:0001921	biolink:NamedThing	chronic atticoantral disease	A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection.	DOVES_relaxed.owl
MONDO:0003329	biolink:NamedThing	ureteral obstruction	Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy.	DOVES_relaxed.owl
MONDO:0005993	biolink:NamedThing	Trichomonas vaginitis urogenital infection	A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse.	DOVES_relaxed.owl
MONDO:0001927	biolink:NamedThing	pulmonary valve insufficiency	Dysfunction of the pulmonary valve characterized by incomplete valve closure.	DOVES_relaxed.owl
MONDO:0006936	biolink:NamedThing	pulmonary valve stenosis	The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.	DOVES_relaxed.owl
MONDO:0001928	biolink:NamedThing	suppurative cholangitis	Cholangitis that is characterized by pyogenic organisms.	DOVES_relaxed.owl
MONDO:0001929	biolink:NamedThing	ascending cholangitis	Acute infection of the bile ducts caused by bacteria ascending from the small intestine.	DOVES_relaxed.owl
MONDO:0001931	biolink:NamedThing	pericholangitis	Inflammation of the tissue surrounding the biliary ducts.	DOVES_relaxed.owl
MONDO:0004786	biolink:NamedThing	chronic cholangitis	Cholangitis that is persistent and long-standing.	DOVES_relaxed.owl
MONDO:0018646	biolink:NamedThing	sclerosing cholangitis	A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure.	DOVES_relaxed.owl
MONDO:0034189	biolink:NamedThing	primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome		DOVES_relaxed.owl
MONDO:0001936	biolink:NamedThing	brawny scleritis		DOVES_relaxed.owl
MONDO:0001939	biolink:NamedThing	skin epithelioid hemangioma	A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells.	DOVES_relaxed.owl
MONDO:0002323	biolink:NamedThing	cherry hemangioma	A capillary hemangioma of the skin, presenting as a red papular lesion.	DOVES_relaxed.owl
MONDO:0003143	biolink:NamedThing	angiokeratoma	A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli).	DOVES_relaxed.owl
MONDO:0003951	biolink:NamedThing	scrotal hemangioma	A hemangioma arising from the skin of the scrotum.	DOVES_relaxed.owl
MONDO:0011927	biolink:NamedThing	tufted angioma	Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood.	DOVES_relaxed.owl
MONDO:0018734	biolink:NamedThing	verrucous hemangioma	A skin hemangioma characterized by the presence of epidermal hyperplasia.	DOVES_relaxed.owl
MONDO:0019803	biolink:NamedThing	angioma serpiginosum	Angioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.	DOVES_relaxed.owl
MONDO:0003897	biolink:NamedThing	breast epithelioid hemangioma	A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast.	DOVES_relaxed.owl
MONDO:0003945	biolink:NamedThing	bone epithelioid hemangioma	A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells.	DOVES_relaxed.owl
MONDO:0001940	biolink:NamedThing	pleuropneumonia	Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura.	DOVES_relaxed.owl
MONDO:0004649	biolink:NamedThing	anaerobic pneumonia	A pneumonia caused by anaerobic bacteria.	DOVES_relaxed.owl
MONDO:0005682	biolink:NamedThing	bronchopneumonia	Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain.	DOVES_relaxed.owl
MONDO:0005716	biolink:NamedThing	contagious pleuropneumonia	A pleuropneumonia of cattle and goats caused by species of mycoplasma.	DOVES_relaxed.owl
MONDO:0005749	biolink:NamedThing	eosinophilic pneumonia	An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss.	DOVES_relaxed.owl
MONDO:0005936	biolink:NamedThing	recurrent pneumonia	Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae.	DOVES_relaxed.owl
MONDO:0800123	biolink:NamedThing	bronchiolocentric pattern of interstitial pneumonia	An interstitial lung disease characterized histologically by fibrosis and/or inflammation confined to the alveolar interstitium around bronchovascular bundles, overlapping with peribronchial metaplasia, fibrosis in some series and the lack of interstitial granulomas.	DOVES_relaxed.owl
MONDO:0001945	biolink:NamedThing	postencephalitic Parkinson disease	A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism.	DOVES_relaxed.owl
MONDO:0021095	biolink:NamedThing	parkinsonian disorder	A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.	DOVES_relaxed.owl
MONDO:0010482	biolink:NamedThing	X-linked parkinsonism-spasticity syndrome	X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.	DOVES_relaxed.owl
MONDO:0010709	biolink:NamedThing	early-onset parkinsonism-intellectual disability syndrome	A basal ganglia disorder characterised by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.	DOVES_relaxed.owl
MONDO:0012205	biolink:NamedThing	autosomal dominant striatal neurodegeneration type 1	Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia.	DOVES_relaxed.owl
MONDO:0013208	biolink:NamedThing	cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome		DOVES_relaxed.owl
MONDO:0017636	biolink:NamedThing	hemiparkinsonism-hemiatrophy syndrome	Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated.	DOVES_relaxed.owl
MONDO:0017639	biolink:NamedThing	carbon monoxide-induced parkinsonism		DOVES_relaxed.owl
MONDO:0017640	biolink:NamedThing	cyanide-induced parkinsonism	Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.	DOVES_relaxed.owl
MONDO:0018321	biolink:NamedThing	atypical juvenile parkinsonism	Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.	DOVES_relaxed.owl
MONDO:0019977	biolink:NamedThing	parkinsonism with dementia of Guadeloupe	Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.	DOVES_relaxed.owl
MONDO:0020352	biolink:NamedThing	multiple system atrophy, parkinsonian type	Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).	DOVES_relaxed.owl
MONDO:0034901	biolink:NamedThing	ATP13A2-related parkinsonism		DOVES_relaxed.owl
MONDO:0001947	biolink:NamedThing	suppurative thyroiditis	Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis.	DOVES_relaxed.owl
MONDO:0044014	biolink:NamedThing	postpartum thyroiditis	A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum	DOVES_relaxed.owl
MONDO:0001951	biolink:NamedThing	Norwegian scabies	A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia.	DOVES_relaxed.owl
MONDO:0024275	biolink:NamedThing	amebic dysentery	Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites.	DOVES_relaxed.owl
MONDO:0043555	biolink:NamedThing	infantile diarrhea	Diarrhea occurring in infants from newborn to 24-months old.	DOVES_relaxed.owl
MONDO:0001967	biolink:NamedThing	gonadal dysgenesis	A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.	DOVES_relaxed.owl
MONDO:0005758	biolink:NamedThing	eunuchism	The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones.	DOVES_relaxed.owl
MONDO:0023820	biolink:NamedThing	Moebius axonal neuropathy hypogonadism		DOVES_relaxed.owl
MONDO:0001969	biolink:NamedThing	mixed gonadal dysgenesis	A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution.	DOVES_relaxed.owl
MONDO:0019499	biolink:NamedThing	Turner syndrome	Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.	DOVES_relaxed.owl
MONDO:0020466	biolink:NamedThing	monosomy X		DOVES_relaxed.owl
MONDO:0020472	biolink:NamedThing	Turner syndrome due to structural X chromosome anomalies		DOVES_relaxed.owl
MONDO:0001971	biolink:NamedThing	farmer's lung disease	Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs.	DOVES_relaxed.owl
MONDO:0005668	biolink:NamedThing	bird fancier's lung	Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis.	DOVES_relaxed.owl
MONDO:0001975	biolink:NamedThing	cavernous hemangioma of orbit	A cavernous hemangioma arising from the orbit.	DOVES_relaxed.owl
MONDO:0002526	biolink:NamedThing	dermal unilateral segmental cavernous angioma		DOVES_relaxed.owl
MONDO:0003643	biolink:NamedThing	giant hemangioma	A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage.	DOVES_relaxed.owl
MONDO:0003645	biolink:NamedThing	cavernous hemangioma of face	A cavernous hemangioma arising from the face.	DOVES_relaxed.owl
MONDO:0006267	biolink:NamedThing	liver cavernous hemangioma	A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females.	DOVES_relaxed.owl
MONDO:0008979	biolink:NamedThing	chorea, benign familial	Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.	DOVES_relaxed.owl
MONDO:0021011	biolink:NamedThing	hereditary progressive chorea without dementia		DOVES_relaxed.owl
MONDO:0001978	biolink:NamedThing	regional ureteric cancer	Carcinoma of the ureter without spread to any other region.	DOVES_relaxed.owl
MONDO:0004030	biolink:NamedThing	ureter transitional cell carcinoma	A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria.	DOVES_relaxed.owl
MONDO:0006482	biolink:NamedThing	ureter small cell carcinoma	A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor.	DOVES_relaxed.owl
MONDO:0006641	biolink:NamedThing	afferent loop syndrome	A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid.	DOVES_relaxed.owl
MONDO:0015531	biolink:NamedThing	non-Langerhans cell histiocytosis	Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES).	DOVES_relaxed.owl
MONDO:0006412	biolink:NamedThing	sinus histiocytosis with massive lymphadenopathy	A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously.	DOVES_relaxed.owl
MONDO:0007725	biolink:NamedThing	hereditary progressive mucinous histiocytosis	Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.	DOVES_relaxed.owl
MONDO:0010017	biolink:NamedThing	sea-blue histiocyte syndrome	A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.	DOVES_relaxed.owl
MONDO:0015532	biolink:NamedThing	generalized eruptive histiocytosis		DOVES_relaxed.owl
MONDO:0015533	biolink:NamedThing	benign cephalic histiocytosis		DOVES_relaxed.owl
MONDO:0015534	biolink:NamedThing	juvenile xanthogranuloma	A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules.	DOVES_relaxed.owl
MONDO:0015535	biolink:NamedThing	xanthoma disseminatum		DOVES_relaxed.owl
MONDO:0015536	biolink:NamedThing	papular xanthoma	Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.	DOVES_relaxed.owl
MONDO:0015537	biolink:NamedThing	necrobiotic xanthogranuloma	A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement.	DOVES_relaxed.owl
MONDO:0015538	biolink:NamedThing	indeterminate dendritic cell tumor	A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable.	DOVES_relaxed.owl
MONDO:0015539	biolink:NamedThing	progressive nodular histiocytosis	Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.	DOVES_relaxed.owl
MONDO:0018153	biolink:NamedThing	Erdheim-Chester disease	Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.	DOVES_relaxed.owl
MONDO:0024617	biolink:NamedThing	xanthogranuloma		DOVES_relaxed.owl
MONDO:0009218	biolink:NamedThing	Farber lipogranulomatosis	A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.	DOVES_relaxed.owl
MONDO:0012719	biolink:NamedThing	encephalopathy due to prosaposin deficiency	Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.	DOVES_relaxed.owl
MONDO:0017719	biolink:NamedThing	gangliosidosis	A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.	DOVES_relaxed.owl
MONDO:0018129	biolink:NamedThing	autosomal recessive cerebellar ataxia with late-onset spasticity	Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.	DOVES_relaxed.owl
MONDO:0001986	biolink:NamedThing	Argyll Robertson pupil		DOVES_relaxed.owl
MONDO:0001990	biolink:NamedThing	malignant cardiac peripheral nerve sheath neoplasm	A very rare malignant peripheral nerve sheath tumor that arises from the heart.	DOVES_relaxed.owl
MONDO:0003353	biolink:NamedThing	heart leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003742	biolink:NamedThing	heart fibrosarcoma	A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	DOVES_relaxed.owl
MONDO:0003863	biolink:NamedThing	malignant melanocytic neoplasm of the peripheral nerve sheath	A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin.	DOVES_relaxed.owl
MONDO:0004345	biolink:NamedThing	childhood malignant schwannoma	A malignant peripheral nerve sheath tumor occurring in children.	DOVES_relaxed.owl
MONDO:0004540	biolink:NamedThing	epithelioid malignant peripheral nerve sheath tumor	A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells.	DOVES_relaxed.owl
MONDO:0004545	biolink:NamedThing	adult malignant schwannoma	A malignant peripheral nerve sheath tumor occurring during adulthood.	DOVES_relaxed.owl
MONDO:0004559	biolink:NamedThing	malignant glandular tumor of peripheral nerve sheath	A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium.	DOVES_relaxed.owl
MONDO:0016757	biolink:NamedThing	malignant triton tumor	Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation.	DOVES_relaxed.owl
MONDO:0003562	biolink:NamedThing	rete testis neoplasm	A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma.	DOVES_relaxed.owl
MONDO:0002790	biolink:NamedThing	seminal vesicle tumor	A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma.	DOVES_relaxed.owl
MONDO:0003609	biolink:NamedThing	seminal vesicle cystadenoma	A rare benign cystadenoma that arises from the seminal vesicle.	DOVES_relaxed.owl
MONDO:0001995	biolink:NamedThing	sphenoid sinus squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	DOVES_relaxed.owl
MONDO:0002301	biolink:NamedThing	frontal sinus squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	DOVES_relaxed.owl
MONDO:0002416	biolink:NamedThing	ethmoid sinus squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	DOVES_relaxed.owl
MONDO:0001998	biolink:NamedThing	Foster-Kennedy syndrome	Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect.	DOVES_relaxed.owl
MONDO:0006671	biolink:NamedThing	Bacteroides infectious disease	Infections with bacteria of the genus bacteroides.	DOVES_relaxed.owl
MONDO:0006765	biolink:NamedThing	Fusobacterium infectious disease	Infections with bacteria of the genus fusobacterium.	DOVES_relaxed.owl
MONDO:0006921	biolink:NamedThing	Actinomycetales infectious disease	Infections with bacteria of the order actinomycetales.	DOVES_relaxed.owl
MONDO:0024388	biolink:NamedThing	Clostridium infectious disease	Infections with bacteria of the genus clostridium.	DOVES_relaxed.owl
MONDO:0024410	biolink:NamedThing	infection caused by Bifidobacterium	A disease caused by infection with Bifidobacterium.	DOVES_relaxed.owl
MONDO:0024412	biolink:NamedThing	Peptostreptococcus infectious disease	A disease caused by infection with Peptostreptococcus.	DOVES_relaxed.owl
MONDO:0024414	biolink:NamedThing	anaerobic cellulitis		DOVES_relaxed.owl
MONDO:0002002	biolink:NamedThing	postsurgical hypothyroidism		DOVES_relaxed.owl
MONDO:0003271	biolink:NamedThing	iodine hypothyroidism		DOVES_relaxed.owl
MONDO:0009718	biolink:NamedThing	myxedema	A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance.	DOVES_relaxed.owl
MONDO:0015777	biolink:NamedThing	adult hypothyroidism	A hypothyroidism that occurs in an adult.	DOVES_relaxed.owl
MONDO:0002012	biolink:NamedThing	methylmalonic acidemia	A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.	DOVES_relaxed.owl
MONDO:0009283	biolink:NamedThing	glutaric acidemia type 3	Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0009556	biolink:NamedThing	malonic aciduria	Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).	DOVES_relaxed.owl
MONDO:0009563	biolink:NamedThing	maple syrup urine disease	An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.	DOVES_relaxed.owl
MONDO:0013579	biolink:NamedThing	methylmalonate semialdehyde dehydrogenase deficiency		DOVES_relaxed.owl
MONDO:0016815	biolink:NamedThing	Leigh syndrome with leukodystrophy		DOVES_relaxed.owl
MONDO:0019215	biolink:NamedThing	classic organic aciduria		DOVES_relaxed.owl
MONDO:0002934	biolink:NamedThing	intravascular angioleiomyoma	A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels.	DOVES_relaxed.owl
MONDO:0015293	biolink:NamedThing	segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.	DOVES_relaxed.owl
MONDO:0024286	biolink:NamedThing	benign blood vessel neoplasm	A benign neoplasm arising from arteries or veins.	DOVES_relaxed.owl
MONDO:0016230	biolink:NamedThing	simple vascular malformation		DOVES_relaxed.owl
MONDO:0016231	biolink:NamedThing	capillary malformation		DOVES_relaxed.owl
MONDO:0016311	biolink:NamedThing	Bockenheimer syndrome		DOVES_relaxed.owl
MONDO:0019175	biolink:NamedThing	primary lymphedema	A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection.	DOVES_relaxed.owl
MONDO:0020296	biolink:NamedThing	congenital arteriovenous fistula	An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth.	DOVES_relaxed.owl
MONDO:0003909	biolink:NamedThing	Bartholin gland adenomyoma	A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture.	DOVES_relaxed.owl
MONDO:0006493	biolink:NamedThing	Warthin tumor	An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland.	DOVES_relaxed.owl
MONDO:0020805	biolink:NamedThing	benign basal cell neoplasm	A neoplasm composed of basal cells that remains localized and does not metastasize to other anatomic sites.	DOVES_relaxed.owl
MONDO:0036915	biolink:NamedThing	benign ovarian mucinous tumor	A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma.	DOVES_relaxed.owl
MONDO:0002016	biolink:NamedThing	benign familial neonatal epilepsy	A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5)	DOVES_relaxed.owl
MONDO:0019367	biolink:NamedThing	regional odontodysplasia	Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.	DOVES_relaxed.owl
MONDO:0004844	biolink:NamedThing	oral mucosa leukoplakia	A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.	DOVES_relaxed.owl
MONDO:0021370	biolink:NamedThing	neoplasm of minor salivary gland	A neoplasm (disease) that involves the minor salivary gland.	DOVES_relaxed.owl
MONDO:0700096	biolink:NamedThing	human disease		DOVES_relaxed.owl
MONDO:0005071	biolink:NamedThing	nervous system disorder	A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.	DOVES_relaxed.owl
MONDO:0005137	biolink:NamedThing	nutritional disorder	Any condition related to a disturbance between proper intake and utilization of nourishment.	DOVES_relaxed.owl
MONDO:0021178	biolink:NamedThing	injury	Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity.	DOVES_relaxed.owl
MONDO:0024458	biolink:NamedThing	disorder of visual system	A disease that involves the visual system.	DOVES_relaxed.owl
MONDO:0029000	biolink:NamedThing	poisoning	A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent.	DOVES_relaxed.owl
MONDO:0043543	biolink:NamedThing	iatrogenic disease	Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment.	DOVES_relaxed.owl
MONDO:0044970	biolink:NamedThing	mitochondrial disease		DOVES_relaxed.owl
MONDO:0044991	biolink:NamedThing	upper digestive tract disorder	A disease or disorder that involves the upper digestive tract.	DOVES_relaxed.owl
MONDO:0045024	biolink:NamedThing	cancer or benign tumor	Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions.	DOVES_relaxed.owl
MONDO:0100086	biolink:NamedThing	perinatal disease	A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth.	DOVES_relaxed.owl
MONDO:0100336	biolink:NamedThing	infectious disease or post-infectious disorder	A disease or disorder that result from the presence and activity of a microbial, viral, fungal or parasitic agent, or a disorder that follows infection with an infectious agent but is distinct from the usual manifestations of the infection itself.	DOVES_relaxed.owl
MONDO:0100366	biolink:NamedThing	occupational disorder	Any disorder that is realized in response to an exposure to occupation.	DOVES_relaxed.owl
MONDO:0700003	biolink:NamedThing	obstetric disorder	Disorder associated with pregnancy, childbirth, and puerperium.	DOVES_relaxed.owl
MONDO:0006154	biolink:NamedThing	colon mucosa-associated lymphoid tissue lymphoma	An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon.	DOVES_relaxed.owl
MONDO:0021698	biolink:NamedThing	alcohol-related disorders	Disorders related to or resulting from abuse or mis-use of alcohol.	DOVES_relaxed.owl
MONDO:0007079	biolink:NamedThing	alcohol dependence	Physical and psychological dependence on alcohol.	DOVES_relaxed.owl
MONDO:0005019	biolink:NamedThing	diffuse scleroderma	A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement.	DOVES_relaxed.owl
MONDO:0008418	biolink:NamedThing	scleroderma, familial progressive		DOVES_relaxed.owl
MONDO:0016356	biolink:NamedThing	diffuse cutaneous systemic sclerosis	Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).	DOVES_relaxed.owl
MONDO:0016358	biolink:NamedThing	limited cutaneous systemic sclerosis	Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.	DOVES_relaxed.owl
MONDO:0016359	biolink:NamedThing	limited systemic sclerosis	Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin.	DOVES_relaxed.owl
MONDO:0003448	biolink:NamedThing	benign spiradenoma	A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported.	DOVES_relaxed.owl
MONDO:0021047	biolink:NamedThing	breast phyllodes tumor	A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component.	DOVES_relaxed.owl
MONDO:0002061	biolink:NamedThing	intraductal papillary breast neoplasm	A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma.	DOVES_relaxed.owl
MONDO:0004007	biolink:NamedThing	breast intraductal proliferative lesion	A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma.	DOVES_relaxed.owl
MONDO:0040675	biolink:NamedThing	myofibroblastoma	A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma.	DOVES_relaxed.owl
MONDO:0021098	biolink:NamedThing	papillomatosis	Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site.	DOVES_relaxed.owl
MONDO:0004226	biolink:NamedThing	diffuse intraductal papillomatosis		DOVES_relaxed.owl
MONDO:0004254	biolink:NamedThing	focal intraductal papillomatosis		DOVES_relaxed.owl
MONDO:0004267	biolink:NamedThing	squamous papillomatosis	A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site.	DOVES_relaxed.owl
MONDO:0021099	biolink:NamedThing	intraductal papillomatosis	A neoplastic process characterized by the presence of multiple intraductal papillomas.	DOVES_relaxed.owl
MONDO:0002066	biolink:NamedThing	breast adenomyoepithelioma	A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases.	DOVES_relaxed.owl
MONDO:0003990	biolink:NamedThing	malignant breast myoepithelioma	An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported.	DOVES_relaxed.owl
MONDO:0004262	biolink:NamedThing	breast myoepitheliosis	A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts.	DOVES_relaxed.owl
MONDO:0002071	biolink:NamedThing	supratentorial cancer	Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation.	DOVES_relaxed.owl
MONDO:0002214	biolink:NamedThing	brain germinoma	A germinoma (disease) that involves the brain.	DOVES_relaxed.owl
MONDO:0002682	biolink:NamedThing	cerebral ventricle cancer	A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure.	DOVES_relaxed.owl
MONDO:0003107	biolink:NamedThing	infratentorial cancer	Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces.	DOVES_relaxed.owl
MONDO:0003142	biolink:NamedThing	intracranial primitive neuroectodermal tumor	A primitive neuroectodermal tumor that involves the brain.	DOVES_relaxed.owl
MONDO:0005499	biolink:NamedThing	brain glioma	A malignant glioma that involves the brain.	DOVES_relaxed.owl
MONDO:0021317	biolink:NamedThing	cancer of cerebellum	A cancer that involves the cerebellum.	DOVES_relaxed.owl
MONDO:0003405	biolink:NamedThing	adult central nervous system germ cell tumor	A germ cell tumor of the central nervous system occurring in adults.	DOVES_relaxed.owl
MONDO:0003750	biolink:NamedThing	childhood central nervous system germ cell tumor	A germ cell tumor of the central nervous system occurring in children.	DOVES_relaxed.owl
MONDO:0020574	biolink:NamedThing	central nervous system nongerminomatous germ cell tumor	Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor.	DOVES_relaxed.owl
MONDO:0003249	biolink:NamedThing	pineal gland cancer	Abnormal malignant growth of the cells that comprise the pineal parenchyma.	DOVES_relaxed.owl
MONDO:0003171	biolink:NamedThing	pineal gland astrocytoma	A astrocytoma that involves the pineal body.	DOVES_relaxed.owl
MONDO:0016722	biolink:NamedThing	pineoblastoma	Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.	DOVES_relaxed.owl
MONDO:0002075	biolink:NamedThing	spontaneous tension pneumothorax		DOVES_relaxed.owl
MONDO:0004813	biolink:NamedThing	tuberculous pneumothorax	A pneumothorax in which air enters into the pleural cavity.	DOVES_relaxed.owl
MONDO:0006783	biolink:NamedThing	hemopneumothorax	Collection of air and blood in the pleural cavity.	DOVES_relaxed.owl
MONDO:0008259	biolink:NamedThing	familial spontaneous pneumothorax	Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.	DOVES_relaxed.owl
MONDO:0022098	biolink:NamedThing	catamenial pneumothorax	Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery.	DOVES_relaxed.owl
MONDO:0002077	biolink:NamedThing	low implantation of placenta		DOVES_relaxed.owl
MONDO:0005918	biolink:NamedThing	placenta praevia	Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor.	DOVES_relaxed.owl
MONDO:0002083	biolink:NamedThing	Richter syndrome	Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm.	DOVES_relaxed.owl
MONDO:0011424	biolink:NamedThing	Carney triad	Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.	DOVES_relaxed.owl
MONDO:0017799	biolink:NamedThing	Meigs syndrome	A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass.	DOVES_relaxed.owl
MONDO:0017807	biolink:NamedThing	growing teratoma syndrome	A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment.	DOVES_relaxed.owl
MONDO:0018881	biolink:NamedThing	myelodysplastic syndrome	A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0019610	biolink:NamedThing	Zollinger-Ellison syndrome	Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion.	DOVES_relaxed.owl
MONDO:0024674	biolink:NamedThing	Pancoast syndrome	A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent.	DOVES_relaxed.owl
MONDO:0045072	biolink:NamedThing	ectopic hormone secretion syndrome associated with neoplasia	Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body.	DOVES_relaxed.owl
MONDO:0024882	biolink:NamedThing	secondary neoplasm	A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.	DOVES_relaxed.owl
MONDO:0004412	biolink:NamedThing	malignant spiradenoma	A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs.	DOVES_relaxed.owl
MONDO:0024883	biolink:NamedThing	metastatic neoplasm	A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology.	DOVES_relaxed.owl
MONDO:0002086	biolink:NamedThing	clear cell acanthoma	An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm.	DOVES_relaxed.owl
MONDO:0002961	biolink:NamedThing	large cell acanthoma		DOVES_relaxed.owl
MONDO:0002962	biolink:NamedThing	epidermolytic acanthoma	A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis.	DOVES_relaxed.owl
MONDO:0002963	biolink:NamedThing	acantholytic acanthoma	A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis.	DOVES_relaxed.owl
MONDO:0006907	biolink:NamedThing	pilar sheath acanthoma	A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes.	DOVES_relaxed.owl
MONDO:0019077	biolink:NamedThing	warty dyskeratoma	A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug.	DOVES_relaxed.owl
MONDO:0002090	biolink:NamedThing	eccrine sweat gland neoplasm	A neoplasm involving a eccrine sweat gland.	DOVES_relaxed.owl
MONDO:0002381	biolink:NamedThing	sweat gland neoplasm	A benign or malignant neoplasm arising from the sweat glands.	DOVES_relaxed.owl
MONDO:0002191	biolink:NamedThing	syringoma	A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis.	DOVES_relaxed.owl
MONDO:0003686	biolink:NamedThing	apocrine sweat gland neoplasm	A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma.	DOVES_relaxed.owl
MONDO:0021121	biolink:NamedThing	hemangioendothelioma	A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics.	DOVES_relaxed.owl
MONDO:0003454	biolink:NamedThing	conjunctival cancer	A malignant neoplasm involving the conjunctiva.	DOVES_relaxed.owl
MONDO:0017907	biolink:NamedThing	primary lymphoma of the conjunctiva	Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.	DOVES_relaxed.owl
MONDO:0015382	biolink:NamedThing	lower lip fistula	A cysts and fistulae of the face and oral cavity that involves the lower lip.	DOVES_relaxed.owl
MONDO:0043653	biolink:NamedThing	herpes labialis	A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region.	DOVES_relaxed.owl
MONDO:0002105	biolink:NamedThing	toxic megacolon	An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis.	DOVES_relaxed.owl
MONDO:0002108	biolink:NamedThing	thyroid cancer	A malignant neoplasm involving the thyroid gland	DOVES_relaxed.owl
MONDO:0003806	biolink:NamedThing	thyroid hyalinizing trabecular adenoma	A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course.	DOVES_relaxed.owl
MONDO:0008565	biolink:NamedThing	familial thyroglossal duct cyst	Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.	DOVES_relaxed.owl
MONDO:0002109	biolink:NamedThing	pituitary cancer	A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract.	DOVES_relaxed.owl
MONDO:0002988	biolink:NamedThing	cervix melanoma	An aggressive malignant tumor of melanocytic origin that arises from the cervix.	DOVES_relaxed.owl
MONDO:0020541	biolink:NamedThing	maligant granulosa cell tumor of ovary	An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites.	DOVES_relaxed.owl
MONDO:0021311	biolink:NamedThing	malignant tumor of parathyroid gland	A cancer that involves the parathyroid gland.	DOVES_relaxed.owl
MONDO:0002889	biolink:NamedThing	orbital cancer	A primary or metastatic malignant neoplasm involving the orbit.	DOVES_relaxed.owl
MONDO:0002892	biolink:NamedThing	skull base chordoma	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells..	DOVES_relaxed.owl
MONDO:0003766	biolink:NamedThing	thalamic cancer	A cancer involving a dorsal plus ventral thalamus.	DOVES_relaxed.owl
MONDO:0003257	biolink:NamedThing	posterior pituitary gland neoplasm	A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma.	DOVES_relaxed.owl
MONDO:0003430	biolink:NamedThing	prolactin producing pituitary tumor	An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin.	DOVES_relaxed.owl
MONDO:0003603	biolink:NamedThing	non-functioning pituitary gland neoplasm	A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome.	DOVES_relaxed.owl
MONDO:0003604	biolink:NamedThing	functioning pituitary gland neoplasm	A hormone producing pituitary gland tumor, associated with a hormonal syndrome.	DOVES_relaxed.owl
MONDO:0019927	biolink:NamedThing	growth hormone-producing pituitary gland neoplasm	An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone.	DOVES_relaxed.owl
MONDO:0045058	biolink:NamedThing	ACTH-producing pituitary gland neoplasm	An adenoma or carcinoma of the pituitary gland that produces corticotropin.	DOVES_relaxed.owl
MONDO:0006183	biolink:NamedThing	disseminated peritoneal leiomyomatosis	A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously.	DOVES_relaxed.owl
MONDO:0006363	biolink:NamedThing	peritoneal multicystic mesothelioma	A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare.	DOVES_relaxed.owl
MONDO:0006364	biolink:NamedThing	peritoneal well differentiated papillary mesothelioma	A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma.	DOVES_relaxed.owl
MONDO:0002116	biolink:NamedThing	malignant exocrine pancreas neoplasm	A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.	DOVES_relaxed.owl
MONDO:0021076	biolink:NamedThing	pancreatic exocrine neoplasm	A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.	DOVES_relaxed.owl
MONDO:0002809	biolink:NamedThing	pancreatic cystadenoma	A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas.	DOVES_relaxed.owl
MONDO:0002810	biolink:NamedThing	pancreatic serous cystic neoplasm	A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma.	DOVES_relaxed.owl
MONDO:0021441	biolink:NamedThing	benign neoplasm of exocrine pancreas	A benign neoplasm that involves the exocrine pancreas.	DOVES_relaxed.owl
MONDO:0044880	biolink:NamedThing	cystic tumor of the pancreas		DOVES_relaxed.owl
MONDO:0002477	biolink:NamedThing	prostate neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas.	DOVES_relaxed.owl
MONDO:0005369	biolink:NamedThing	carcinoid tumor	A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement.	DOVES_relaxed.owl
MONDO:0005454	biolink:NamedThing	lung neuroendocrine neoplasm	A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma.	DOVES_relaxed.owl
MONDO:0015071	biolink:NamedThing	middle ear neuroendocrine tumor	A neuroendocrine neoplasm that involves the middle ear.	DOVES_relaxed.owl
MONDO:0019964	biolink:NamedThing	thymic neuroendocrine tumor	Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively.	DOVES_relaxed.owl
MONDO:0021650	biolink:NamedThing	uterine corpus neuroendocrine neoplasm	An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.	DOVES_relaxed.owl
MONDO:0043207	biolink:NamedThing	urethral obstruction sequence		DOVES_relaxed.owl
MONDO:0002128	biolink:NamedThing	mononeuritis multiplex	A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome.	DOVES_relaxed.owl
MONDO:0002130	biolink:NamedThing	upper limb mononeuronitis	A disease affecting a single peripheral nerve of the upper limb.	DOVES_relaxed.owl
MONDO:0005841	biolink:NamedThing	maxillary neoplasm	Cancer or tumors of the maxilla or upper jaw.	DOVES_relaxed.owl
MONDO:0015528	biolink:NamedThing	congenital epulis	A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative.	DOVES_relaxed.owl
MONDO:0037744	biolink:NamedThing	neoplasm of retromolar area		DOVES_relaxed.owl
MONDO:0002785	biolink:NamedThing	skull base neoplasm	A benign or malignant neoplasm that affects the skull base.	DOVES_relaxed.owl
MONDO:0004186	biolink:NamedThing	cranial nodular fasciitis	A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.	DOVES_relaxed.owl
MONDO:0002133	biolink:NamedThing	chronic rheumatic pericarditis	Chronic form of rheumatic pericarditis.	DOVES_relaxed.owl
MONDO:0002136	biolink:NamedThing	eczematous dermatitis of eyelid		DOVES_relaxed.owl
MONDO:0002138	biolink:NamedThing	allergic contact dermatitis of eyelid	A allergic contact dermatitis that involves the eyelid.	DOVES_relaxed.owl
MONDO:0004706	biolink:NamedThing	discoid lupus erythematosus of eyelid		DOVES_relaxed.owl
MONDO:0004718	biolink:NamedThing	xeroderma of eyelid		DOVES_relaxed.owl
MONDO:0006596	biolink:NamedThing	photoallergic dermatitis	A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin.	DOVES_relaxed.owl
MONDO:0006616	biolink:NamedThing	toxicodendron dermatitis	An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0022323	biolink:NamedThing	2-hydroxyethyl methacrylate sensitization		DOVES_relaxed.owl
MONDO:0002881	biolink:NamedThing	vaginal adenosarcoma	A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component.	DOVES_relaxed.owl
MONDO:0016094	biolink:NamedThing	vaginal germ cell malignant tumor	A malignant germ cell tumor that involves the vagina.	DOVES_relaxed.owl
MONDO:0037746	biolink:NamedThing	malignant vaginal mixed epithelial and mesenchymal neoplasm	A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma.	DOVES_relaxed.owl
MONDO:0002141	biolink:NamedThing	cutaneous undifferentiated pleomorphic sarcoma	An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm.	DOVES_relaxed.owl
MONDO:0003561	biolink:NamedThing	malignant giant cell tumor of soft parts	An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism.	DOVES_relaxed.owl
MONDO:0006480	biolink:NamedThing	undifferentiated pleomorphic sarcoma, inflammatory variant	An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells.	DOVES_relaxed.owl
MONDO:0003029	biolink:NamedThing	skin angiosarcoma	A malignant vascular neoplasm arising from the skin.	DOVES_relaxed.owl
MONDO:0003362	biolink:NamedThing	cutaneous leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003600	biolink:NamedThing	cutaneous liposarcoma	A malignant adipose tissue neoplasm of the skin.	DOVES_relaxed.owl
MONDO:0002989	biolink:NamedThing	benign fibrous histiocytoma	A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage.	DOVES_relaxed.owl
MONDO:0002617	biolink:NamedThing	bone angiosarcoma	A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation.	DOVES_relaxed.owl
MONDO:0002618	biolink:NamedThing	undifferentiated high grade pleomorphic sarcoma of bone	A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs.	DOVES_relaxed.owl
MONDO:0002619	biolink:NamedThing	bone fibrosarcoma	A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	DOVES_relaxed.owl
MONDO:0002624	biolink:NamedThing	bone leiomyosarcoma	A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0002625	biolink:NamedThing	Ewing sarcoma of bone	A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor.	DOVES_relaxed.owl
MONDO:0002629	biolink:NamedThing	bone osteosarcoma	A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.	DOVES_relaxed.owl
MONDO:0002634	biolink:NamedThing	liposarcoma of bone	A very rare malignant adipose tissue neoplasm that arises from the bone.	DOVES_relaxed.owl
MONDO:0003680	biolink:NamedThing	periosteal chondrosarcoma	A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling.	DOVES_relaxed.owl
MONDO:0003684	biolink:NamedThing	clear cell chondrosarcoma	A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones.	DOVES_relaxed.owl
MONDO:0005013	biolink:NamedThing	dedifferentiated chondrosarcoma	An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor.	DOVES_relaxed.owl
MONDO:0005674	biolink:NamedThing	bone giant cell tumor	A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint.	DOVES_relaxed.owl
MONDO:0006287	biolink:NamedThing	malignancy in giant cell tumor of bone	A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor).	DOVES_relaxed.owl
MONDO:0002143	biolink:NamedThing	vaginal yolk sac tumor	A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge.	DOVES_relaxed.owl
MONDO:0005744	biolink:NamedThing	yolk sac tumor	A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum.	DOVES_relaxed.owl
MONDO:0003400	biolink:NamedThing	childhood endodermal sinus tumor	A yolk sac tumor that occurs during childhood.	DOVES_relaxed.owl
MONDO:0003402	biolink:NamedThing	testicular yolk sac tumor	A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation.	DOVES_relaxed.owl
MONDO:0003404	biolink:NamedThing	adult yolk sac tumor	A yolk sac tumor that occurs in an adult.	DOVES_relaxed.owl
MONDO:0006344	biolink:NamedThing	ovarian yolk sac tumor	A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular.	DOVES_relaxed.owl
MONDO:0023726	biolink:NamedThing	mediastinal yolk sac tumor	An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome.	DOVES_relaxed.owl
MONDO:0008097	biolink:NamedThing	linear nevus sebaceous syndrome	Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).	DOVES_relaxed.owl
MONDO:0008280	biolink:NamedThing	Peutz-Jeghers syndrome	Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.	DOVES_relaxed.owl
MONDO:0009512	biolink:NamedThing	lethal Larsen-like syndrome	Larsen-like syndrome, lethal type, is characterised by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out.	DOVES_relaxed.owl
MONDO:0009914	biolink:NamedThing	pseudodiastrophic dysplasia	Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.	DOVES_relaxed.owl
MONDO:0010592	biolink:NamedThing	focal dermal hypoplasia	A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.	DOVES_relaxed.owl
MONDO:0011035	biolink:NamedThing	neurofibromatosis-Noonan syndrome	A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS).	DOVES_relaxed.owl
MONDO:0013574	biolink:NamedThing	cutis laxa - Marfanoid syndrome		DOVES_relaxed.owl
MONDO:0015193	biolink:NamedThing	hydrops fetalis	Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).	DOVES_relaxed.owl
MONDO:0015330	biolink:NamedThing	overgrowth/obesity syndrome		DOVES_relaxed.owl
MONDO:0015333	biolink:NamedThing	progeroid syndrome	A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are.	DOVES_relaxed.owl
MONDO:0015334	biolink:NamedThing	branchial arch or oral-acral syndrome		DOVES_relaxed.owl
MONDO:0016064	biolink:NamedThing	cleft palate	Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees.	DOVES_relaxed.owl
MONDO:0016677	biolink:NamedThing	toxic or drug-related embryofetopathy	Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.	DOVES_relaxed.owl
MONDO:0016678	biolink:NamedThing	maternal disease-related embryofetopathy		DOVES_relaxed.owl
MONDO:0017623	biolink:NamedThing	PTEN hamartoma tumor syndrome	A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS.	DOVES_relaxed.owl
MONDO:0017793	biolink:NamedThing	marfanoid habitus-inguinal hernia-advanced bone age syndrome		DOVES_relaxed.owl
MONDO:0019042	biolink:NamedThing	multiple congenital anomalies/dysmorphic syndrome		DOVES_relaxed.owl
MONDO:0019054	biolink:NamedThing	congenital limb malformation		DOVES_relaxed.owl
MONDO:0019356	biolink:NamedThing	urogenital tract malformation		DOVES_relaxed.owl
MONDO:0020018	biolink:NamedThing	cranial malformation		DOVES_relaxed.owl
MONDO:0020019	biolink:NamedThing	digestive tract malformation		DOVES_relaxed.owl
MONDO:0020020	biolink:NamedThing	visceral malformation of the liver, biliary tract, pancreas or spleen		DOVES_relaxed.owl
MONDO:0020021	biolink:NamedThing	diaphragmatic or abdominal wall malformation		DOVES_relaxed.owl
MONDO:0020022	biolink:NamedThing	central nervous system malformation		DOVES_relaxed.owl
MONDO:0020023	biolink:NamedThing	respiratory or mediastinal malformation		DOVES_relaxed.owl
MONDO:0100367	biolink:NamedThing	port-wine nevi-mega cisterna magna-hydrocephalus syndrome	A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.	DOVES_relaxed.owl
MONDO:0002150	biolink:NamedThing	hypothalamic disorder	Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders.	DOVES_relaxed.owl
MONDO:0002153	biolink:NamedThing	telogen effluvium	A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress.	DOVES_relaxed.owl
MONDO:0004907	biolink:NamedThing	alopecia	Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions.	DOVES_relaxed.owl
MONDO:0005483	biolink:NamedThing	chemotherapy-induced alopecia	Hair loss as a result of chemotherapy treatment.	DOVES_relaxed.owl
MONDO:0006551	biolink:NamedThing	alopecia mucinosa	A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma.	DOVES_relaxed.owl
MONDO:0008847	biolink:NamedThing	atrichia with papular lesions	Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.	DOVES_relaxed.owl
MONDO:0011019	biolink:NamedThing	alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome	This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.	DOVES_relaxed.owl
MONDO:0013136	biolink:NamedThing	hereditary hypotrichosis with recurrent skin vesicles	Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.	DOVES_relaxed.owl
MONDO:0015082	biolink:NamedThing	alopecia antibody deficiency		DOVES_relaxed.owl
MONDO:0015261	biolink:NamedThing	pseudopelade of Brocq	Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.	DOVES_relaxed.owl
MONDO:0016776	biolink:NamedThing	frontal fibrosing alopecia	Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.	DOVES_relaxed.owl
MONDO:0018103	biolink:NamedThing	Quinquaud's folliculitis decalvans	Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.	DOVES_relaxed.owl
MONDO:0018858	biolink:NamedThing	Graham Little-Piccardi-Lassueur syndrome	Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.	DOVES_relaxed.owl
MONDO:0018879	biolink:NamedThing	lichen planopilaris	Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.	DOVES_relaxed.owl
MONDO:0018914	biolink:NamedThing	hypotrichosis simplex	Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.	DOVES_relaxed.owl
MONDO:0019080	biolink:NamedThing	alopecia totalis	Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.	DOVES_relaxed.owl
MONDO:0019575	biolink:NamedThing	hypotrichosis simplex of the scalp	Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.	DOVES_relaxed.owl
MONDO:0021208	biolink:NamedThing	endocrine alopecia		DOVES_relaxed.owl
MONDO:0021851	biolink:NamedThing	alopecia universalis onychodystrophy vitiligo	A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurrs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun.	DOVES_relaxed.owl
MONDO:0043139	biolink:NamedThing	microcephaly sparse hair intellectual disability seizures		DOVES_relaxed.owl
MONDO:0005388	biolink:NamedThing	primary biliary cholangitis	Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.	DOVES_relaxed.owl
MONDO:0006699	biolink:NamedThing	choledocholithiasis	Presence or formation of gallstones in the common bile duct.	DOVES_relaxed.owl
MONDO:0008265	biolink:NamedThing	polycystic liver disease 1	A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.	DOVES_relaxed.owl
MONDO:0010913	biolink:NamedThing	Caroli disease	Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.	DOVES_relaxed.owl
MONDO:0018808	biolink:NamedThing	Caroli syndrome		DOVES_relaxed.owl
MONDO:0018816	biolink:NamedThing	isolated neonatal sclerosing cholangitis	Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.	DOVES_relaxed.owl
MONDO:0018840	biolink:NamedThing	isolated congenital hepatic fibrosis	A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts.	DOVES_relaxed.owl
MONDO:0033853	biolink:NamedThing	congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome		DOVES_relaxed.owl
MONDO:0002159	biolink:NamedThing	fallopian tube leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0002162	biolink:NamedThing	fallopian tube adenosarcoma	An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component.	DOVES_relaxed.owl
MONDO:0004792	biolink:NamedThing	cancer of isthmus of fallopian tube	A cancer that involves the UBERON:0016632.	DOVES_relaxed.owl
MONDO:0003347	biolink:NamedThing	inflammatory leiomyosarcoma	A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells.	DOVES_relaxed.owl
MONDO:0003348	biolink:NamedThing	conventional leiomyosarcoma	An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion.	DOVES_relaxed.owl
MONDO:0003351	biolink:NamedThing	colon leiomyosarcoma	An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003355	biolink:NamedThing	ovary leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003356	biolink:NamedThing	epithelioid leiomyosarcoma	A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.	DOVES_relaxed.owl
MONDO:0003357	biolink:NamedThing	lung leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003359	biolink:NamedThing	myxoid leiomyosarcoma	A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.	DOVES_relaxed.owl
MONDO:0003360	biolink:NamedThing	small intestine leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003365	biolink:NamedThing	esophagus leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003368	biolink:NamedThing	prostate leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003369	biolink:NamedThing	vagina leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003370	biolink:NamedThing	retroperitoneal leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003371	biolink:NamedThing	breast leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003372	biolink:NamedThing	vulvar leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003373	biolink:NamedThing	kidney leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003374	biolink:NamedThing	laryngeal leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003376	biolink:NamedThing	mediastinum leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003378	biolink:NamedThing	liver leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0003379	biolink:NamedThing	rectum leiomyosarcoma	An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0004208	biolink:NamedThing	superior vena cava leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0016283	biolink:NamedThing	leiomyosarcoma of the cervix uteri	Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.	DOVES_relaxed.owl
MONDO:0002876	biolink:NamedThing	cervical adenosarcoma	A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements.	DOVES_relaxed.owl
MONDO:0002878	biolink:NamedThing	uterine corpus adenosarcoma	A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection.	DOVES_relaxed.owl
MONDO:0002880	biolink:NamedThing	ovarian adenosarcoma	A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases.	DOVES_relaxed.owl
MONDO:0006159	biolink:NamedThing	colorectal gastrointestinal stromal tumor	A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course.	DOVES_relaxed.owl
MONDO:0006160	biolink:NamedThing	colorectal hamartoma	A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp.	DOVES_relaxed.owl
MONDO:0015068	biolink:NamedThing	neuroendocrine tumor of rectum, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum.	DOVES_relaxed.owl
MONDO:0002169	biolink:NamedThing	rectum adenocarcinoma	An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.	DOVES_relaxed.owl
MONDO:0002424	biolink:NamedThing	rectosigmoid carcinoma	A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area.	DOVES_relaxed.owl
MONDO:0004196	biolink:NamedThing	rectal sarcomatoid carcinoma	A biphasic rectal carcinoma with a spindle cell, sarcomatoid component.	DOVES_relaxed.owl
MONDO:0004725	biolink:NamedThing	rectum carcinoma in situ	A in situ carcinoma that involves the rectum.	DOVES_relaxed.owl
MONDO:0018515	biolink:NamedThing	squamous cell carcinoma of rectum	A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.	DOVES_relaxed.owl
MONDO:0002927	biolink:NamedThing	spindle cell sarcoma	A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas.	DOVES_relaxed.owl
MONDO:0004309	biolink:NamedThing	sarcomatosis	The occurrence of several sarcomas in different anatomic locations.	DOVES_relaxed.owl
MONDO:0004943	biolink:NamedThing	orbit sarcoma	A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas.	DOVES_relaxed.owl
MONDO:0005104	biolink:NamedThing	aJCC grade 1 sarcoma	Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)	DOVES_relaxed.owl
MONDO:0006232	biolink:NamedThing	giant cell tumor of soft tissue	A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes.	DOVES_relaxed.owl
MONDO:0006745	biolink:NamedThing	endometrioid stromal sarcoma	A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma.	DOVES_relaxed.owl
MONDO:0006861	biolink:NamedThing	myeloid sarcoma	A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0006974	biolink:NamedThing	small cell sarcoma	A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.	DOVES_relaxed.owl
MONDO:0009807	biolink:NamedThing	osteosarcoma	A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs.	DOVES_relaxed.owl
MONDO:0012817	biolink:NamedThing	Ewing sarcoma	A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.	DOVES_relaxed.owl
MONDO:0016280	biolink:NamedThing	sarcoma of cervix uteri	A sarcoma involving a uterine cervix.	DOVES_relaxed.owl
MONDO:0006163	biolink:NamedThing	colorectal serrated adenocarcinoma	A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture.	DOVES_relaxed.owl
MONDO:0044336	biolink:NamedThing	colorectal signet ring cell carcinoma	An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate.	DOVES_relaxed.owl
MONDO:0002181	biolink:NamedThing	exostosis	Non-neoplastic overgrowth of bone.	DOVES_relaxed.owl
MONDO:0007764	biolink:NamedThing	autosomal dominant osteosclerosis, Worth type	A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.	DOVES_relaxed.owl
MONDO:0009031	biolink:NamedThing	craniodiaphyseal dysplasia	Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.	DOVES_relaxed.owl
MONDO:0009395	biolink:NamedThing	hyperostosis corticalis generalisata	Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.	DOVES_relaxed.owl
MONDO:0010541	biolink:NamedThing	X-linked calvarial hyperostosis		DOVES_relaxed.owl
MONDO:0002189	biolink:NamedThing	nodular hidradenoma	A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative.	DOVES_relaxed.owl
MONDO:0006738	biolink:NamedThing	eccrine acrospiroma	A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors.	DOVES_relaxed.owl
MONDO:0006787	biolink:NamedThing	hidrocystoma	A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative.	DOVES_relaxed.owl
MONDO:0021812	biolink:NamedThing	adnexal spiradenoma/cylindroma of a sweat gland	A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.	DOVES_relaxed.owl
MONDO:0024247	biolink:NamedThing	benign eccrine neoplasm	A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma.	DOVES_relaxed.owl
MONDO:0002805	biolink:NamedThing	hidradenoma	A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma.	DOVES_relaxed.owl
MONDO:0003446	biolink:NamedThing	papillary hidradenoma	A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative.	DOVES_relaxed.owl
MONDO:0003447	biolink:NamedThing	clear cell hidradenoma	An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells.	DOVES_relaxed.owl
MONDO:0003519	biolink:NamedThing	malignant syringoma	A malignant form of syringoma.	DOVES_relaxed.owl
MONDO:0003954	biolink:NamedThing	angiokeratoma of Fordyce	An angiokeratoma that is located on the scrotum or vulva.	DOVES_relaxed.owl
MONDO:0020597	biolink:NamedThing	angiokeratoma of scrotum	An angiokeratoma that is located on the scrotum.	DOVES_relaxed.owl
MONDO:0002193	biolink:NamedThing	Bartholin gland benign neoplasm	A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.	DOVES_relaxed.owl
MONDO:0007070	biolink:NamedThing	adiposis dolorosa	Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy.	DOVES_relaxed.owl
MONDO:0007908	biolink:NamedThing	multiple symmetric lipomatosis	Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).	DOVES_relaxed.owl
MONDO:0021496	biolink:NamedThing	benign neoplasm of lip	A benign neoplasm that involves the lip.	DOVES_relaxed.owl
MONDO:0005198	biolink:NamedThing	vulvar intraepithelial neoplasia	Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type.	DOVES_relaxed.owl
MONDO:0002196	biolink:NamedThing	perinatal intestinal perforation		DOVES_relaxed.owl
MONDO:0002221	biolink:NamedThing	urethral urothelial papilloma	Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. Papilloma's of the urethra typically occur just within or on the external meatus. - 2003	DOVES_relaxed.owl
MONDO:0004464	biolink:NamedThing	nephrogenic adenoma of the urethra	A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.	DOVES_relaxed.owl
MONDO:0002200	biolink:NamedThing	eccrine mixed tumor of skin	A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures.	DOVES_relaxed.owl
MONDO:0003450	biolink:NamedThing	eccrine papillary adenoma	A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections.	DOVES_relaxed.owl
MONDO:0005506	biolink:NamedThing	eccrine sweat gland cancer	An cancer with eccrine differentiation arising from the sweat glands.B	DOVES_relaxed.owl
MONDO:0024482	biolink:NamedThing	eccrine sweat gland hamartoma	A hamartoma characterized by localized eccrine sweat gland malformation.	DOVES_relaxed.owl
MONDO:0002478	biolink:NamedThing	mixed germ cell-sex cord-stromal tumor	A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable.	DOVES_relaxed.owl
MONDO:0003272	biolink:NamedThing	mixed epithelial stromal tumor		DOVES_relaxed.owl
MONDO:0003811	biolink:NamedThing	ovarian seromucinous tumor	A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous.	DOVES_relaxed.owl
MONDO:0016255	biolink:NamedThing	uterine corpus mixed epithelial and mesenchymal neoplasm	A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma.	DOVES_relaxed.owl
MONDO:0021045	biolink:NamedThing	fibroepithelial neoplasm	A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor.	DOVES_relaxed.owl
MONDO:0002202	biolink:NamedThing	outlet dysfunction constipation		DOVES_relaxed.owl
MONDO:0002203	biolink:NamedThing	constipation disorder	Irregular and infrequent or difficult evacuation of the bowels.	DOVES_relaxed.owl
MONDO:0100187	biolink:NamedThing	opioid-induced constipation	A constipation disorder caused by use of opiods. OIC may present immediately when a patient takes the opioid, or it may present gradually during opioid therapy.	DOVES_relaxed.owl
MONDO:0002207	biolink:NamedThing	vulval Paget disease	An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei.	DOVES_relaxed.owl
MONDO:0008177	biolink:NamedThing	extramammary Paget disease	A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva.	DOVES_relaxed.owl
MONDO:0002651	biolink:NamedThing	anal Paget disease	A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO).	DOVES_relaxed.owl
MONDO:0002653	biolink:NamedThing	Paget disease of the penis	A premalignant condition morphologically characterised by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003	DOVES_relaxed.owl
MONDO:0003636	biolink:NamedThing	vulvar sebaceous carcinoma	A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests.	DOVES_relaxed.owl
MONDO:0003853	biolink:NamedThing	Bartholin gland adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the major vestibular gland.	DOVES_relaxed.owl
MONDO:0003861	biolink:NamedThing	vulvar eccrine adenocarcinoma	An eccrine adenocarcinoma that arises from the sweat glands in the vulva.	DOVES_relaxed.owl
MONDO:0003881	biolink:NamedThing	vulvar apocrine adenocarcinoma	An apocrine adenocarcinoma that arises from the sweat glands in the vulva.	DOVES_relaxed.owl
MONDO:0004173	biolink:NamedThing	adenocarcinoma of skene gland origin	A rare adenocarcinoma arising from Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma.	DOVES_relaxed.owl
MONDO:0004283	biolink:NamedThing	vulvar clear cell hidradenocarcinoma	A vulvar sweat gland carcinoma characterized by the presence of clear cells.	DOVES_relaxed.owl
MONDO:0002209	biolink:NamedThing	heel spur	A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related.	DOVES_relaxed.owl
MONDO:0020706	biolink:NamedThing	Heberden's node	Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis.	DOVES_relaxed.owl
MONDO:0003778	biolink:NamedThing	inborn error of immunity	A disorder in which the immune system is unable to mount an adequate immune response.	DOVES_relaxed.owl
MONDO:0009464	biolink:NamedThing	immunodeficiency with defective T-cell response to interleukin 1		DOVES_relaxed.owl
MONDO:0010386	biolink:NamedThing	immunodeficiency 33	Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene.	DOVES_relaxed.owl
MONDO:0010504	biolink:NamedThing	immunodeficiency 47	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene.	DOVES_relaxed.owl
MONDO:0010625	biolink:NamedThing	immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein		DOVES_relaxed.owl
MONDO:0010713	biolink:NamedThing	properdin deficiency, X-linked	A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.	DOVES_relaxed.owl
MONDO:0013953	biolink:NamedThing	immunodeficiency 28	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene.	DOVES_relaxed.owl
MONDO:0014491	biolink:NamedThing	immunodeficiency 37	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene.	DOVES_relaxed.owl
MONDO:0014597	biolink:NamedThing	immunodeficiency 39	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene.	DOVES_relaxed.owl
MONDO:0015135	biolink:NamedThing	primary immunodeficiency due to a genetic defect in innate immunity		DOVES_relaxed.owl
MONDO:0015541	biolink:NamedThing	genetic hemophagocytic lymphohistiocytosis	An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual.	DOVES_relaxed.owl
MONDO:0015823	biolink:NamedThing	primary immunodeficiency due to a defect in adaptive immunity		DOVES_relaxed.owl
MONDO:0033969	biolink:NamedThing	inflammatory bowel disease-recurrent sinopulmonary infections syndrome		DOVES_relaxed.owl
MONDO:0100222	biolink:NamedThing	A20 haploinsufficiency	Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene.	DOVES_relaxed.owl
MONDO:0010627	biolink:NamedThing	X-linked lymphoproliferative syndrome	X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).	DOVES_relaxed.owl
MONDO:0010954	biolink:NamedThing	Wiskott-Aldrich syndrome, autosomal dominant form		DOVES_relaxed.owl
MONDO:0011664	biolink:NamedThing	immunodeficiency due to CD25 deficiency		DOVES_relaxed.owl
MONDO:0012383	biolink:NamedThing	primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.	DOVES_relaxed.owl
MONDO:0013408	biolink:NamedThing	FADD-related immunodeficiency	A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.	DOVES_relaxed.owl
MONDO:0013779	biolink:NamedThing	Wiskott-Aldrich syndrome 2	Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene.	DOVES_relaxed.owl
MONDO:0014353	biolink:NamedThing	immunodeficiency 23		DOVES_relaxed.owl
MONDO:0014727	biolink:NamedThing	immunodeficiency 45		DOVES_relaxed.owl
MONDO:0015131	biolink:NamedThing	combined immunodeficiency	A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.	DOVES_relaxed.owl
MONDO:0018636	biolink:NamedThing	autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome		DOVES_relaxed.owl
MONDO:0019093	biolink:NamedThing	immunodeficiency due to selective anti-polysaccharide antibody deficiency	Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).	DOVES_relaxed.owl
MONDO:0020849	biolink:NamedThing	immunodeficiency 57		DOVES_relaxed.owl
MONDO:0023655	biolink:NamedThing	immunodeficiency 14b, autosomal recessive		DOVES_relaxed.owl
MONDO:0024777	biolink:NamedThing	immunodeficiency 98 with autoinflammation, X-linked	An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia.	DOVES_relaxed.owl
MONDO:0024781	biolink:NamedThing	immunodeficiency 102	An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation.	DOVES_relaxed.owl
MONDO:0026767	biolink:NamedThing	immunodeficiency 74, COVID-19-related, X-linked		DOVES_relaxed.owl
MONDO:0030013	biolink:NamedThing	immunodeficiency 66		DOVES_relaxed.owl
MONDO:0030266	biolink:NamedThing	immunodeficiency 80 with or without congenital cardiomyopathy	An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported.	DOVES_relaxed.owl
MONDO:0030302	biolink:NamedThing	immunodeficiency 81	A human immunodeficiency characterized by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation, caused by a variation in the SLP76 gene.	DOVES_relaxed.owl
MONDO:0030308	biolink:NamedThing	immunodeficiency 82 with systemic inflammation	A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway.	DOVES_relaxed.owl
MONDO:0030333	biolink:NamedThing	immunodeficiency 84		DOVES_relaxed.owl
MONDO:0030428	biolink:NamedThing	immunodeficiency 85 and autoimmunity		DOVES_relaxed.owl
MONDO:0030448	biolink:NamedThing	immunodeficiency 86		DOVES_relaxed.owl
MONDO:0030457	biolink:NamedThing	immunodeficiency 87 and autoimmunity	An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation.	DOVES_relaxed.owl
MONDO:0030483	biolink:NamedThing	immunodeficiency 88	An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines.	DOVES_relaxed.owl
MONDO:0030484	biolink:NamedThing	immunodeficiency 89 and autoimmunity		DOVES_relaxed.owl
MONDO:0030491	biolink:NamedThing	immunodeficiency 91 and hyperinflammation	An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease.	DOVES_relaxed.owl
MONDO:0030498	biolink:NamedThing	immunodeficiency 92	An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative.	DOVES_relaxed.owl
MONDO:0030528	biolink:NamedThing	immunodeficiency 93 and hypertrophic cardiomyopathy	An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects.	DOVES_relaxed.owl
MONDO:0030692	biolink:NamedThing	immunodeficiency 95		DOVES_relaxed.owl
MONDO:0030693	biolink:NamedThing	immunodeficiency 96	An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair.	DOVES_relaxed.owl
MONDO:0030717	biolink:NamedThing	immunodeficiency 97 with autoinflammation	An autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported.	DOVES_relaxed.owl
MONDO:0030798	biolink:NamedThing	immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias	An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment.	DOVES_relaxed.owl
MONDO:0030813	biolink:NamedThing	immunodeficiency 101 (varicella zoster virus-specific)		DOVES_relaxed.owl
MONDO:0030858	biolink:NamedThing	immunodeficiency 75		DOVES_relaxed.owl
MONDO:0030898	biolink:NamedThing	immunodeficiency 76	An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood.	DOVES_relaxed.owl
MONDO:0030970	biolink:NamedThing	immunodeficiency 106, susceptibility to viral infections		DOVES_relaxed.owl
MONDO:0030971	biolink:NamedThing	immunodeficiency 78 with autoimmunity and developmental delay		DOVES_relaxed.owl
MONDO:0030973	biolink:NamedThing	immunodeficiency 77		DOVES_relaxed.owl
MONDO:0031030	biolink:NamedThing	immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection		DOVES_relaxed.owl
MONDO:0032599	biolink:NamedThing	immunodeficiency 15a		DOVES_relaxed.owl
MONDO:0032723	biolink:NamedThing	immunodeficiency 60		DOVES_relaxed.owl
MONDO:0032763	biolink:NamedThing	immunodeficiency 62		DOVES_relaxed.owl
MONDO:0032782	biolink:NamedThing	immunodeficiency 63 with lymphoproliferation and autoimmunity		DOVES_relaxed.owl
MONDO:0032803	biolink:NamedThing	immunodeficiency 64		DOVES_relaxed.owl
MONDO:0032848	biolink:NamedThing	immunodeficiency 65, susceptibility to viral infections		DOVES_relaxed.owl
MONDO:0033541	biolink:NamedThing	immunodeficiency 69		DOVES_relaxed.owl
MONDO:0033542	biolink:NamedThing	immunodeficiency 70		DOVES_relaxed.owl
MONDO:0033551	biolink:NamedThing	immunodeficiency 72 with autoinflammation		DOVES_relaxed.owl
MONDO:0042982	biolink:NamedThing	GATA2 deficiency with susceptibility to MDS/AML	A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]).	DOVES_relaxed.owl
MONDO:0044725	biolink:NamedThing	combined immunodeficiency due to GINS1 deficiency		DOVES_relaxed.owl
MONDO:0054696	biolink:NamedThing	immunodeficiency 53		DOVES_relaxed.owl
MONDO:0054697	biolink:NamedThing	immunodeficiency 11b with atopic dermatitis		DOVES_relaxed.owl
MONDO:0100162	biolink:NamedThing	IKBKG-related immunodeficiency with or without ectodermal dysplasia	Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID).	DOVES_relaxed.owl
MONDO:0100432	biolink:NamedThing	FNIP1-associated syndrome	Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome.	DOVES_relaxed.owl
MONDO:0800134	biolink:NamedThing	primary immunodeficiency due to calcium channel deficiency	An immunodeficiency disease caused by a variation in the CRACR2A gene.	DOVES_relaxed.owl
MONDO:0800142	biolink:NamedThing	chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency	An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS).	DOVES_relaxed.owl
MONDO:0004383	biolink:NamedThing	adult central nervous system germinoma	A central nervous system germinoma that occurs in an adult.	DOVES_relaxed.owl
MONDO:0004452	biolink:NamedThing	childhood central nervous system germinoma	A germinoma arising from the central nervous system during childhood.	DOVES_relaxed.owl
MONDO:0003777	biolink:NamedThing	renal pelvis urothelial papilloma	A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma.	DOVES_relaxed.owl
MONDO:0021109	biolink:NamedThing	inverted urothelial papilloma	An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas.	DOVES_relaxed.owl
MONDO:0002223	biolink:NamedThing	ovarian malignant mesothelioma	A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement.	DOVES_relaxed.owl
MONDO:0003805	biolink:NamedThing	malignant pericardial mesothelioma	A rare neoplasm of mesothelial origin that arises from the pericardium.	DOVES_relaxed.owl
MONDO:0005599	biolink:NamedThing	malignant epithelioid mesothelioma	A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity.	DOVES_relaxed.owl
MONDO:0006109	biolink:NamedThing	malignant biphasic mesothelioma	A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features.	DOVES_relaxed.owl
MONDO:0006407	biolink:NamedThing	sarcomatoid mesothelioma	A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.	DOVES_relaxed.owl
MONDO:0002230	biolink:NamedThing	ovarian Wilms tumor	An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass.	DOVES_relaxed.owl
MONDO:0003879	biolink:NamedThing	ovarian endometrioid adenocarcinofibroma	A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma.	DOVES_relaxed.owl
MONDO:0018365	biolink:NamedThing	malignant non-epithelial tumor of ovary		DOVES_relaxed.owl
MONDO:0002380	biolink:NamedThing	myoepithelial tumor	A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.	DOVES_relaxed.owl
MONDO:0002994	biolink:NamedThing	pancreatic delta cell neuroendocrine tumor	A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning).	DOVES_relaxed.owl
MONDO:0004255	biolink:NamedThing	Wolffian adnexal tumor	A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass.	DOVES_relaxed.owl
MONDO:0006720	biolink:NamedThing	cystic, mucinous, and serous neoplasm	Neoplasms containing cyst-like formations or producing mucin or serum.	DOVES_relaxed.owl
MONDO:0018079	biolink:NamedThing	thymic epithelial neoplasm	An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas.	DOVES_relaxed.owl
MONDO:0020799	biolink:NamedThing	basal cell neoplasm	A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas.	DOVES_relaxed.owl
MONDO:0021096	biolink:NamedThing	papillary epithelial neoplasm		DOVES_relaxed.owl
MONDO:0024888	biolink:NamedThing	mesonephric neoplasm	An epithelial neoplasm of the female reproductive system arising from mesonephric remnants.	DOVES_relaxed.owl
MONDO:0037254	biolink:NamedThing	transitional cell neoplasm		DOVES_relaxed.owl
MONDO:0006058	biolink:NamedThing	Wilms tumor	An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.	DOVES_relaxed.owl
MONDO:0006144	biolink:NamedThing	cervical Wilms tumor	An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney.	DOVES_relaxed.owl
MONDO:0019004	biolink:NamedThing	kidney Wilms tumor	An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver.	DOVES_relaxed.owl
MONDO:0002770	biolink:NamedThing	vaginal discharge	Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer.	DOVES_relaxed.owl
MONDO:0004679	biolink:NamedThing	leukoplakia of vagina	Leukoplakia of the vagina.	DOVES_relaxed.owl
MONDO:0021394	biolink:NamedThing	polyp of vagina	A polyp that involves the vagina.	DOVES_relaxed.owl
MONDO:0008387	biolink:NamedThing	ring dermoid of cornea	Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.	DOVES_relaxed.owl
MONDO:0017050	biolink:NamedThing	intraocular medulloepithelioma	Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.	DOVES_relaxed.owl
MONDO:0018607	biolink:NamedThing	combined hamartoma of the retina and retinal pigment epithelium		DOVES_relaxed.owl
MONDO:0018885	biolink:NamedThing	orbital leiomyoma	Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.	DOVES_relaxed.owl
MONDO:0019336	biolink:NamedThing	Gardner syndrome	Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.	DOVES_relaxed.owl
MONDO:0021454	biolink:NamedThing	benign neoplasm of eye	A benign neoplasm that involves the eye.	DOVES_relaxed.owl
MONDO:0002241	biolink:NamedThing	factor XIII deficiency	An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII.	DOVES_relaxed.owl
MONDO:0008560	biolink:NamedThing	thrombophilia due to activated protein C resistance	A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.	DOVES_relaxed.owl
MONDO:0018660	biolink:NamedThing	hemophilia	Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.	DOVES_relaxed.owl
MONDO:0020586	biolink:NamedThing	factor V deficiency	A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.	DOVES_relaxed.owl
MONDO:0020599	biolink:NamedThing	acquired coagulation factor deficiency	Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease.	DOVES_relaxed.owl
MONDO:0024574	biolink:NamedThing	von Willebrand disease (hereditary or acquired)	Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding.	DOVES_relaxed.owl
MONDO:0035742	biolink:NamedThing	factor V short isoforms-related bleeding disorder		DOVES_relaxed.owl
MONDO:0035743	biolink:NamedThing	factor V amsterdam bleeding disorder		DOVES_relaxed.owl
MONDO:0035759	biolink:NamedThing	factor V atlanta bleeding disorder		DOVES_relaxed.owl
MONDO:0035776	biolink:NamedThing	combined deficiency of factor VII and factor X		DOVES_relaxed.owl
MONDO:0002250	biolink:NamedThing	basilar artery insufficiency	A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function.	DOVES_relaxed.owl
MONDO:0002253	biolink:NamedThing	spondylosis	A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue.	DOVES_relaxed.owl
MONDO:0005541	biolink:NamedThing	spondylolysis	A defect in the pars interarticularis of a vertebral bone.	DOVES_relaxed.owl
MONDO:0024467	biolink:NamedThing	apocrine sweat gland disorder	A disease that involves the apocrine sweat gland.	DOVES_relaxed.owl
MONDO:0022171	biolink:NamedThing	chromhidrosis	A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms.	DOVES_relaxed.owl
MONDO:0002268	biolink:NamedThing	dyspepsia	An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease.	DOVES_relaxed.owl
MONDO:0006769	biolink:NamedThing	gastroparesis	Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine.	DOVES_relaxed.owl
MONDO:0003978	biolink:NamedThing	colon small cell neuroendocrine carcinoma	An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells.	DOVES_relaxed.owl
MONDO:0004663	biolink:NamedThing	colon carcinoma in situ	A in situ carcinoma that involves the colon.	DOVES_relaxed.owl
MONDO:0018513	biolink:NamedThing	squamous cell carcinoma of colon	A squamous cell carcinoma that involves the colon.	DOVES_relaxed.owl
MONDO:0002272	biolink:NamedThing	polyclonal hypergammaglobulinemia	A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines.	DOVES_relaxed.owl
MONDO:0002274	biolink:NamedThing	monoclonal paraproteinemia disease	A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma.	DOVES_relaxed.owl
MONDO:0005190	biolink:NamedThing	macroglobulinemia	Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life.	DOVES_relaxed.owl
MONDO:0004225	biolink:NamedThing	monoclonal gammopathy of uncertain significance	A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases.	DOVES_relaxed.owl
MONDO:0019604	biolink:NamedThing	acquired monoclonal Ig light chain-associated Fanconi syndrome	A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia.	DOVES_relaxed.owl
MONDO:0002882	biolink:NamedThing	colon neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	DOVES_relaxed.owl
MONDO:0006152	biolink:NamedThing	colon inflammatory polyp	A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis.	DOVES_relaxed.owl
MONDO:0006153	biolink:NamedThing	colon juvenile polyp	A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.	DOVES_relaxed.owl
MONDO:0021462	biolink:NamedThing	benign neoplasm of rectum	A benign neoplasm that involves the rectum.	DOVES_relaxed.owl
MONDO:0003019	biolink:NamedThing	potassium deficiency disease	Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia.	DOVES_relaxed.owl
MONDO:0056803	biolink:NamedThing	sulfur metabolism disease	A disease that has its basis in the disruption of sulfur compound metabolic process.	DOVES_relaxed.owl
MONDO:0002970	biolink:NamedThing	ciliary body disorder	A disease involving the ciliary body.	DOVES_relaxed.owl
MONDO:0006814	biolink:NamedThing	iritis	Inflammation of the iris.	DOVES_relaxed.owl
MONDO:0019172	biolink:NamedThing	aniridia	Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia).	DOVES_relaxed.owl
MONDO:0021224	biolink:NamedThing	iris neoplasm	A neoplasm (disease) that involves the iris.	DOVES_relaxed.owl
MONDO:0024456	biolink:NamedThing	anterior segment dysgenesis 3	An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)	DOVES_relaxed.owl
MONDO:0041775	biolink:NamedThing	intraoperative floppy iris syndrome		DOVES_relaxed.owl
MONDO:0002287	biolink:NamedThing	glandular cystitis	A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells.	DOVES_relaxed.owl
MONDO:0002291	biolink:NamedThing	cutaneous granular cell tumor	A granular cell tumor that involves the zone of skin.	DOVES_relaxed.owl
MONDO:0002295	biolink:NamedThing	skin glomus tumor	A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site.	DOVES_relaxed.owl
MONDO:0006717	biolink:NamedThing	cutaneous fibrous histiocytoma	A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern.	DOVES_relaxed.owl
MONDO:0019023	biolink:NamedThing	cutaneous mastocytosis	Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.	DOVES_relaxed.owl
MONDO:0006235	biolink:NamedThing	granular cell tumor	An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast.	DOVES_relaxed.owl
MONDO:0003251	biolink:NamedThing	esophageal granular cell tumor	A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003	DOVES_relaxed.owl
MONDO:0003255	biolink:NamedThing	mediastinal granular cell myoblastoma	An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum.	DOVES_relaxed.owl
MONDO:0003256	biolink:NamedThing	neurohypophysis granular cell tumor	A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0018327	biolink:NamedThing	glomus tumor	A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities.	DOVES_relaxed.owl
MONDO:0002299	biolink:NamedThing	glomangioma	A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions.	DOVES_relaxed.owl
MONDO:0024323	biolink:NamedThing	glomangiomyoma	A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle.	DOVES_relaxed.owl
MONDO:0002298	biolink:NamedThing	cutaneous glomangioma	A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells.	DOVES_relaxed.owl
MONDO:0003341	biolink:NamedThing	subungual glomus tumor	A glomus tumor arising in the finger and usually associated with pain.	DOVES_relaxed.owl
MONDO:0024325	biolink:NamedThing	cutaneous glomangiomyoma	A glomangiomyoma that involves the zone of skin.	DOVES_relaxed.owl
MONDO:0021154	biolink:NamedThing	dermis disorder	A disease that involves the dermis.	DOVES_relaxed.owl
MONDO:0006583	biolink:NamedThing	necrobiosis lipoidica	Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring.	DOVES_relaxed.owl
MONDO:0007118	biolink:NamedThing	isolated anhidrosis with normal sweat glands	Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.	DOVES_relaxed.owl
MONDO:0008153	biolink:NamedThing	progressive osseous heteroplasia	A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.	DOVES_relaxed.owl
MONDO:0008339	biolink:NamedThing	antecubital pterygium syndrome		DOVES_relaxed.owl
MONDO:0009094	biolink:NamedThing	dermochondrocorneal dystrophy	Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0015301	biolink:NamedThing	primary cutaneous amyloidosis	Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis.	DOVES_relaxed.owl
MONDO:0015371	biolink:NamedThing	linear atrophoderma of Moulin	Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.	DOVES_relaxed.owl
MONDO:0018432	biolink:NamedThing	lichen myxedematosus		DOVES_relaxed.owl
MONDO:0019033	biolink:NamedThing	primary cutis verticis gyrata	Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG).	DOVES_relaxed.owl
MONDO:0019292	biolink:NamedThing	dermis elastic tissue disorder		DOVES_relaxed.owl
MONDO:0019294	biolink:NamedThing	mixed dermis disorder		DOVES_relaxed.owl
MONDO:0004618	biolink:NamedThing	diplegia of upper limb		DOVES_relaxed.owl
MONDO:0005287	biolink:NamedThing	developmental disability	Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)	DOVES_relaxed.owl
MONDO:0005391	biolink:NamedThing	restless legs syndrome	A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs.	DOVES_relaxed.owl
MONDO:0005527	biolink:NamedThing	toxic encephalopathy	A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives.	DOVES_relaxed.owl
MONDO:0005773	biolink:NamedThing	Gerstmann syndrome	Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.	DOVES_relaxed.owl
MONDO:0006731	biolink:NamedThing	drug-induced akathisia	An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications.	DOVES_relaxed.owl
MONDO:0006732	biolink:NamedThing	drug-induced dyskinesia	Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)	DOVES_relaxed.owl
MONDO:0008503	biolink:NamedThing	Worster-Drought syndrome	Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking.	DOVES_relaxed.owl
MONDO:0010840	biolink:NamedThing	pachygyria-intellectual disability-epilepsy syndrome	A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.	DOVES_relaxed.owl
MONDO:0011036	biolink:NamedThing	porencephaly-cerebellar hypoplasia-internal malformations syndrome	Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.	DOVES_relaxed.owl
MONDO:0015145	biolink:NamedThing	neurovascular malformation		DOVES_relaxed.owl
MONDO:0015269	biolink:NamedThing	symmetrical thalamic calcifications	Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.	DOVES_relaxed.owl
MONDO:0015315	biolink:NamedThing	neonatal brainstem dysfunction	Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.	DOVES_relaxed.owl
MONDO:0015914	biolink:NamedThing	primary orthostatic hypotension	Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.	DOVES_relaxed.owl
MONDO:0016139	biolink:NamedThing	qualitative or quantitative protein defects in neuromuscular diseases		DOVES_relaxed.owl
MONDO:0016225	biolink:NamedThing	specific learning disability	Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)	DOVES_relaxed.owl
MONDO:0016392	biolink:NamedThing	cerebellar hypoplasia-tapetoretinal degeneration syndrome	Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.	DOVES_relaxed.owl
MONDO:0016428	biolink:NamedThing	multiple sclerosis variant		DOVES_relaxed.owl
MONDO:0016567	biolink:NamedThing	locked-in syndrome	Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.	DOVES_relaxed.owl
MONDO:0017297	biolink:NamedThing	chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids		DOVES_relaxed.owl
MONDO:0017577	biolink:NamedThing	spontaneous periodic hypothermia	Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.	DOVES_relaxed.owl
MONDO:0017648	biolink:NamedThing	Sydenham chorea	A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures.	DOVES_relaxed.owl
MONDO:0018211	biolink:NamedThing	Balint syndrome	Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.	DOVES_relaxed.owl
MONDO:0018215	biolink:NamedThing	paraneoplastic neurologic syndrome	A paraneoplastic syndrome that involves the nervous system.	DOVES_relaxed.owl
MONDO:0018546	biolink:NamedThing	serotonin syndrome	Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).	DOVES_relaxed.owl
MONDO:0018752	biolink:NamedThing	exercise-induced malignant hyperthermia		DOVES_relaxed.owl
MONDO:0019000	biolink:NamedThing	perineural cyst	Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy.	DOVES_relaxed.owl
MONDO:0019100	biolink:NamedThing	neuromyelitis optica	Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.	DOVES_relaxed.owl
MONDO:0020495	biolink:NamedThing	PEHO-like syndrome	PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.	DOVES_relaxed.owl
MONDO:0021017	biolink:NamedThing	synaptopathy	A disease caused by dysfunction of synapses.	DOVES_relaxed.owl
MONDO:0024183	biolink:NamedThing	wet beriberi		DOVES_relaxed.owl
MONDO:0024251	biolink:NamedThing	Minamata disease	A neurological syndrome caused by severe mercury poisoning.	DOVES_relaxed.owl
MONDO:0033926	biolink:NamedThing	prepubertal anorexia nervosa		DOVES_relaxed.owl
MONDO:0035014	biolink:NamedThing	primary orthostatic disorder		DOVES_relaxed.owl
MONDO:0035383	biolink:NamedThing	FOXG1 syndrome	A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum.	DOVES_relaxed.owl
MONDO:0043280	biolink:NamedThing	Wallerian degeneration	A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness.	DOVES_relaxed.owl
MONDO:0044745	biolink:NamedThing	nervous system injury	Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures.	DOVES_relaxed.owl
MONDO:0100081	biolink:NamedThing	sleep disorder	A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep.	DOVES_relaxed.owl
MONDO:0100153	biolink:NamedThing	tubulinopathy	A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene.	DOVES_relaxed.owl
MONDO:0700002	biolink:NamedThing	ATP1A3-associated neurological disorder	Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3.	DOVES_relaxed.owl
MONDO:0700055	biolink:NamedThing	KIF1A related neurological disorder	KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A	DOVES_relaxed.owl
MONDO:0003896	biolink:NamedThing	breast capillary hemangioma	A capillary hemangioma arising from the breast.	DOVES_relaxed.owl
MONDO:0022096	biolink:NamedThing	pyogenic granuloma	A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma.	DOVES_relaxed.owl
MONDO:0002328	biolink:NamedThing	intracranial hemangioma	A hemangioma arising from the brain and meninges.	DOVES_relaxed.owl
MONDO:0003428	biolink:NamedThing	brain hemangioma	A hemangioma arising from the brain.	DOVES_relaxed.owl
MONDO:0003901	biolink:NamedThing	cerebellar hemangioblastoma	A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26).	DOVES_relaxed.owl
MONDO:0003902	biolink:NamedThing	brain stem hemangioblastoma	A hemangioblastoma that involves the brainstem.	DOVES_relaxed.owl
MONDO:0021499	biolink:NamedThing	benign neoplasm of cerebellum	A benign neoplasm that involves the cerebellum.	DOVES_relaxed.owl
MONDO:0006702	biolink:NamedThing	chronic inflammatory demyelinating polyradiculoneuropathy	A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse.	DOVES_relaxed.owl
MONDO:0004224	biolink:NamedThing	chronic metabolic polyneuropathy		DOVES_relaxed.owl
MONDO:0004372	biolink:NamedThing	chronic toxic polyneuropathy		DOVES_relaxed.owl
MONDO:0016170	biolink:NamedThing	chronic polyradiculoneuropathy	Chronic form of polyradiculoneuropathy.	DOVES_relaxed.owl
MONDO:0002342	biolink:NamedThing	chondromalacia	Pathological processes involving the chondral tissue (cartilage).	DOVES_relaxed.owl
MONDO:0002343	biolink:NamedThing	splenic hemangioma	A hemangioma arising from the spleen.	DOVES_relaxed.owl
MONDO:0021500	biolink:NamedThing	benign neoplasm of spleen	A benign neoplasm that involves the spleen.	DOVES_relaxed.owl
MONDO:0002347	biolink:NamedThing	barbiturate dependence	A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.	DOVES_relaxed.owl
MONDO:0005303	biolink:NamedThing	drug dependence	Drug dependence - replaced the term "drug addiction" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug.	DOVES_relaxed.owl
MONDO:0004939	biolink:NamedThing	hallucinogen dependence	A drug dependence for a hallucinogenic substance.	DOVES_relaxed.owl
MONDO:0005186	biolink:NamedThing	cocaine dependence	A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance.	DOVES_relaxed.owl
MONDO:0005419	biolink:NamedThing	metamphetamine dependence	A drug dependence that is a psychological dependency on the regular use of metamphetamine.	DOVES_relaxed.owl
MONDO:0005432	biolink:NamedThing	alcohol and nicotine codependence	A drug dependence that is the physiological result of being addicted to alcohol and nicotine.	DOVES_relaxed.owl
MONDO:0005530	biolink:NamedThing	opiate dependence	Disorders related or resulting from abuse or mis-use of opioids.	DOVES_relaxed.owl
MONDO:0005689	biolink:NamedThing	cannabis dependence	Physical and psychological dependence on the drug cannabis.	DOVES_relaxed.owl
MONDO:0008575	biolink:NamedThing	nicotine dependence	Physical and psychological dependence on nicotine.	DOVES_relaxed.owl
MONDO:0031008	biolink:NamedThing	nephrotic syndrome, type 24		DOVES_relaxed.owl
MONDO:0043156	biolink:NamedThing	nephrotic syndrome ocular anomalies		DOVES_relaxed.owl
MONDO:0044765	biolink:NamedThing	steroid-resistant nephrotic syndrome	Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids.	DOVES_relaxed.owl
MONDO:0002355	biolink:NamedThing	glottis carcinoma	A carcinoma that arises from epithelial cells of the glottis.	DOVES_relaxed.owl
MONDO:0004357	biolink:NamedThing	carcinoma of supraglottis	A carcinoma of the larynx that arises from the supraglottic area.	DOVES_relaxed.owl
MONDO:0004358	biolink:NamedThing	subglottis carcinoma	A carcinoma of the larynx that arises from the subglottic area.	DOVES_relaxed.owl
MONDO:0006265	biolink:NamedThing	laryngeal small cell carcinoma	A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course.	DOVES_relaxed.owl
MONDO:0002357	biolink:NamedThing	hepatic flexure cancer	A malignant neoplasm involving the hepatic flexure of colon.	DOVES_relaxed.owl
MONDO:0002522	biolink:NamedThing	tenosynovial giant cell tumor	A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse.	DOVES_relaxed.owl
MONDO:0003301	biolink:NamedThing	dartoic leiomyoma	A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora.	DOVES_relaxed.owl
MONDO:0004315	biolink:NamedThing	cholangiolocellular carcinoma	An intrahepatic cholangiocarcinoma that arises from the canals of Hering.	DOVES_relaxed.owl
MONDO:0006209	biolink:NamedThing	fibroblastic neoplasm	A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts.	DOVES_relaxed.owl
MONDO:0021354	biolink:NamedThing	tumor of adipose tissue	A neoplasm (disease) that involves the adipose tissue.	DOVES_relaxed.owl
MONDO:0002518	biolink:NamedThing	gallbladder papillary neoplasm	A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present.	DOVES_relaxed.owl
MONDO:0003443	biolink:NamedThing	papillary urothelial neoplasm	A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003	DOVES_relaxed.owl
MONDO:0003813	biolink:NamedThing	ovarian papillary tumor	A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma.	DOVES_relaxed.owl
MONDO:0006190	biolink:NamedThing	endolymphatic sac tumor	An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor.	DOVES_relaxed.owl
MONDO:0006349	biolink:NamedThing	papillary cystic neoplasm	A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures.	DOVES_relaxed.owl
MONDO:0002365	biolink:NamedThing	kidney hemangiopericytoma	A hemangiopericytoma arising from the kidney.	DOVES_relaxed.owl
MONDO:0005094	biolink:NamedThing	hemangiopericytoma	An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces.	DOVES_relaxed.owl
MONDO:0003223	biolink:NamedThing	meninges hemangiopericytoma	A solitary fibrous tumor/hemangiopericytoma that arises from the meninges.	DOVES_relaxed.owl
MONDO:0003857	biolink:NamedThing	adult intracranial malignant hemangiopericytoma	A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population.	DOVES_relaxed.owl
MONDO:0009330	biolink:NamedThing	hemangiopericytoma, malignant	An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone.	DOVES_relaxed.owl
MONDO:0002386	biolink:NamedThing	mixed epithelial stromal tumor of the kidney	A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria.	DOVES_relaxed.owl
MONDO:0002730	biolink:NamedThing	childhood kidney neoplasm	A kidney neoplasm that occurs during childhood.	DOVES_relaxed.owl
MONDO:0003719	biolink:NamedThing	renal pelvis neoplasm	A neoplasm (disease) that involves the renal pelvis.	DOVES_relaxed.owl
MONDO:0019463	biolink:NamedThing	non-amyloid monoclonal immunoglobulin deposition disease		DOVES_relaxed.owl
MONDO:0019983	biolink:NamedThing	multiloculated renal cyst		DOVES_relaxed.owl
MONDO:0002547	biolink:NamedThing	nerve sheath neoplasm	A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor.	DOVES_relaxed.owl
MONDO:0003103	biolink:NamedThing	nerve root neoplasm	Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression.	DOVES_relaxed.owl
MONDO:0002368	biolink:NamedThing	papillary serous cystadenocarcinoma	A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.	DOVES_relaxed.owl
MONDO:0005074	biolink:NamedThing	papillary cystadenocarcinoma	A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.	DOVES_relaxed.owl
MONDO:0024621	biolink:NamedThing	serous cystadenocarcinoma	A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures.	DOVES_relaxed.owl
MONDO:0003630	biolink:NamedThing	pancreatic serous cystadenocarcinoma	A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain.	DOVES_relaxed.owl
MONDO:0006046	biolink:NamedThing	ovarian serous cystadenocarcinoma	A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features.	DOVES_relaxed.owl
MONDO:0002370	biolink:NamedThing	ovarian Brenner tumor	A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature.	DOVES_relaxed.owl
MONDO:0003756	biolink:NamedThing	ovarian mucinous neoplasm	A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract.	DOVES_relaxed.owl
MONDO:0003887	biolink:NamedThing	ovarian mucinous adenofibroma	A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma.	DOVES_relaxed.owl
MONDO:0016093	biolink:NamedThing	borderline epithelial tumor of ovary	A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion.	DOVES_relaxed.owl
MONDO:0037255	biolink:NamedThing	ovarian serous tumor	A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage.	DOVES_relaxed.owl
MONDO:0003118	biolink:NamedThing	testicular Brenner tumor	An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma.	DOVES_relaxed.owl
MONDO:0002371	biolink:NamedThing	breast pericanalicular fibroadenoma	A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures.	DOVES_relaxed.owl
MONDO:0002377	biolink:NamedThing	breast intracanalicular fibroadenoma	A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells.	DOVES_relaxed.owl
MONDO:0004150	biolink:NamedThing	breast giant fibroadenoma	A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity.	DOVES_relaxed.owl
MONDO:0002372	biolink:NamedThing	ovarian monodermal and highly specialized teratoma	A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue.	DOVES_relaxed.owl
MONDO:0003331	biolink:NamedThing	ovarian monodermal teratoma	A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer.	DOVES_relaxed.owl
MONDO:0005065	biolink:NamedThing	mesothelioma	A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.	DOVES_relaxed.owl
MONDO:0003308	biolink:NamedThing	pleural mesothelioma	A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath.	DOVES_relaxed.owl
MONDO:0003688	biolink:NamedThing	well differentiated papillary mesothelioma	A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma.	DOVES_relaxed.owl
MONDO:0006963	biolink:NamedThing	sebaceous gland neoplasm	A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma.	DOVES_relaxed.owl
MONDO:0020176	biolink:NamedThing	palpebral sebaceous gland tumor	A neoplasm (disease) that involves the sebaceous gland of eyelid.	DOVES_relaxed.owl
MONDO:0002527	biolink:NamedThing	keratoacanthoma	A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin.	DOVES_relaxed.owl
MONDO:0002376	biolink:NamedThing	spleen angiosarcoma	A malignant vascular neoplasm arising from the spleen.	DOVES_relaxed.owl
MONDO:0003022	biolink:NamedThing	pediatric angiosarcoma	An angiosarcoma occurring in childhood.	DOVES_relaxed.owl
MONDO:0003023	biolink:NamedThing	aorta angiosarcoma	A malignant vascular neoplasm arising from the aorta.	DOVES_relaxed.owl
MONDO:0003024	biolink:NamedThing	breast angiosarcoma	A malignant vascular neoplasm arising from the breast.	DOVES_relaxed.owl
MONDO:0003025	biolink:NamedThing	conventional angiosarcoma	An angiosarcoma characterized by the presence of malignant spindle endothelial cells.	DOVES_relaxed.owl
MONDO:0003026	biolink:NamedThing	gallbladder angiosarcoma	An angiosarcoma that is located in the gallbladder.	DOVES_relaxed.owl
MONDO:0003027	biolink:NamedThing	thyroid gland angiosarcoma	A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter.	DOVES_relaxed.owl
MONDO:0003033	biolink:NamedThing	prostate angiosarcoma	A malignant vascular neoplasm arising from the prostate.	DOVES_relaxed.owl
MONDO:0003034	biolink:NamedThing	mediastinum angiosarcoma	A malignant vascular neoplasm arising from the mediastinum.	DOVES_relaxed.owl
MONDO:0003035	biolink:NamedThing	ovarian angiosarcoma	A malignant vascular neoplasm arising from the ovary.	DOVES_relaxed.owl
MONDO:0002379	biolink:NamedThing	cystic teratoma		DOVES_relaxed.owl
MONDO:0003281	biolink:NamedThing	ovarian cystic teratoma	A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst.	DOVES_relaxed.owl
MONDO:0004099	biolink:NamedThing	adult cystic teratoma	A cystic teratoma that occurs in an adult.	DOVES_relaxed.owl
MONDO:0002601	biolink:NamedThing	teratoma	A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.	DOVES_relaxed.owl
MONDO:0002718	biolink:NamedThing	central nervous system teratoma	A mature or immature teratoma that affects the central nervous system.	DOVES_relaxed.owl
MONDO:0003514	biolink:NamedThing	malignant teratoma	A malignant form of teratoma.	DOVES_relaxed.owl
MONDO:0003515	biolink:NamedThing	fallopian tube teratoma	A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally.	DOVES_relaxed.owl
MONDO:0003516	biolink:NamedThing	adult teratoma	A teratoma that occurs in an adult.	DOVES_relaxed.owl
MONDO:0003517	biolink:NamedThing	mature teratoma	A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.	DOVES_relaxed.owl
MONDO:0003518	biolink:NamedThing	mediastinum teratoma	A teratoma that involves the mediastinum.	DOVES_relaxed.owl
MONDO:0006233	biolink:NamedThing	gonadal teratoma	A teratoma that arises from the testis or ovary.	DOVES_relaxed.owl
MONDO:0006444	biolink:NamedThing	teratoma with malignant transformation	A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous.	DOVES_relaxed.owl
MONDO:0015391	biolink:NamedThing	nasopharyngeal teratoma	A teratoma that involves the nasopharynx.	DOVES_relaxed.owl
MONDO:0024746	biolink:NamedThing	immature teratoma	A teratoma composed of immature, fetal-type tissues.	DOVES_relaxed.owl
MONDO:0019311	biolink:NamedThing	woolly hair nevus	Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.	DOVES_relaxed.owl
MONDO:0021539	biolink:NamedThing	hamartoma of skin appendage	A hamartoma (disease) that involves the cutaneous appendage.	DOVES_relaxed.owl
MONDO:0006615	biolink:NamedThing	sweat gland disorder	A disease involving the sweat gland.	DOVES_relaxed.owl
MONDO:0006527	biolink:NamedThing	anhidrosis	Lack of sweating or the ability to sweat when provoked by the appropriate stimulus.	DOVES_relaxed.owl
MONDO:0006540	biolink:NamedThing	dyshidrosis	A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0006553	biolink:NamedThing	Fox-Fordyce disease	Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants.	DOVES_relaxed.owl
MONDO:0002849	biolink:NamedThing	liver rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver.	DOVES_relaxed.owl
MONDO:0003866	biolink:NamedThing	liver extraskeletal osteosarcoma	An osteosarcoma arising from the liver.	DOVES_relaxed.owl
MONDO:0004435	biolink:NamedThing	liver fibrosarcoma	A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	DOVES_relaxed.owl
MONDO:0005102	biolink:NamedThing	undifferentiated (embryonal) sarcoma	An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells.	DOVES_relaxed.owl
MONDO:0002388	biolink:NamedThing	intracystic papillary adenoma	A papillary epithelial neoplasm arising in a cystically dilated breast duct.	DOVES_relaxed.owl
MONDO:0004421	biolink:NamedThing	sclerosing breast papilloma	A breast papilloma characterized by the presence of predominant sclerosing architectural features.	DOVES_relaxed.owl
MONDO:0004505	biolink:NamedThing	central breast papilloma	A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge.	DOVES_relaxed.owl
MONDO:0004506	biolink:NamedThing	microscopic breast papilloma	A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic.	DOVES_relaxed.owl
MONDO:0004507	biolink:NamedThing	atypical breast papilloma	An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia.	DOVES_relaxed.owl
MONDO:0005078	biolink:NamedThing	phyllodes tumor	A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.	DOVES_relaxed.owl
MONDO:0003060	biolink:NamedThing	biliary tract cancer	A malignant neoplasm involving the biliary tree	DOVES_relaxed.owl
MONDO:0006122	biolink:NamedThing	calcifying nested epithelial stromal tumor of the liver	A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present.	DOVES_relaxed.owl
MONDO:0003460	biolink:NamedThing	clear cell adenofibroma	A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma.	DOVES_relaxed.owl
MONDO:0003462	biolink:NamedThing	papillary adenofibroma	A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma.	DOVES_relaxed.owl
MONDO:0003464	biolink:NamedThing	cystadenofibroma	A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue.	DOVES_relaxed.owl
MONDO:0024886	biolink:NamedThing	serous adenofibroma	A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential.	DOVES_relaxed.owl
MONDO:0002399	biolink:NamedThing	tenosynovial giant cell tumor, localized type	A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site.	DOVES_relaxed.owl
MONDO:0002401	biolink:NamedThing	malignant tenosynovial giant cell tumor	An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well.	DOVES_relaxed.owl
MONDO:0002523	biolink:NamedThing	cutaneous mucinosis	The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses).	DOVES_relaxed.owl
MONDO:0004605	biolink:NamedThing	chronic ulcer of skin		DOVES_relaxed.owl
MONDO:0005326	biolink:NamedThing	sunburn	An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering.	DOVES_relaxed.owl
MONDO:0005594	biolink:NamedThing	severe cutaneous adverse reaction	A permanent mark left on the skin in the process of wound healing.	DOVES_relaxed.owl
MONDO:0005898	biolink:NamedThing	paronychia	An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans.	DOVES_relaxed.owl
MONDO:0006545	biolink:NamedThing	erythema multiforme	Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN).	DOVES_relaxed.owl
MONDO:0006546	biolink:NamedThing	erythematosquamous dermatosis	A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff.	DOVES_relaxed.owl
MONDO:0006548	biolink:NamedThing	facial dermatosis	Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder.	DOVES_relaxed.owl
MONDO:0006556	biolink:NamedThing	hand dermatosis	Skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual.	DOVES_relaxed.owl
MONDO:0006569	biolink:NamedThing	leg dermatosis	A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)	DOVES_relaxed.owl
MONDO:0006570	biolink:NamedThing	lichen disease	A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin.	DOVES_relaxed.owl
MONDO:0006582	biolink:NamedThing	mongolian spot	A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The colour is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot.	DOVES_relaxed.owl
MONDO:0006603	biolink:NamedThing	reactive cutaneous fibrous lesion	A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing.	DOVES_relaxed.owl
MONDO:0006604	biolink:NamedThing	rosacea	A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids.	DOVES_relaxed.owl
MONDO:0006605	biolink:NamedThing	scalp dermatosis	Dermotosis of scalp	DOVES_relaxed.owl
MONDO:0006610	biolink:NamedThing	skin atrophy	The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging.	DOVES_relaxed.owl
MONDO:0006617	biolink:NamedThing	vesiculobullous skin disease	Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)	DOVES_relaxed.owl
MONDO:0007313	biolink:NamedThing	cheilitis glandularis	Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.	DOVES_relaxed.owl
MONDO:0007570	biolink:NamedThing	erythema palmare hereditarium	A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.	DOVES_relaxed.owl
MONDO:0007990	biolink:NamedThing	multiple benign circumferential skin creases on limbs		DOVES_relaxed.owl
MONDO:0008017	biolink:NamedThing	hereditary mucoepithelial dysplasia	A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.	DOVES_relaxed.owl
MONDO:0008273	biolink:NamedThing	actinic prurigo		DOVES_relaxed.owl
MONDO:0008492	biolink:NamedThing	stiff skin syndrome	A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy.	DOVES_relaxed.owl
MONDO:0009198	biolink:NamedThing	congenital lethal erythroderma	A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.	DOVES_relaxed.owl
MONDO:0010146	biolink:NamedThing	Kerion celsi	A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.	DOVES_relaxed.owl
MONDO:0010523	biolink:NamedThing	X-linked reticulate pigmentary disorder	X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.	DOVES_relaxed.owl
MONDO:0010535	biolink:NamedThing	Bazex-Dupre-Christol syndrome	Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas.	DOVES_relaxed.owl
MONDO:0015294	biolink:NamedThing	nephrogenic systemic fibrosis	Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.	DOVES_relaxed.owl
MONDO:0016379	biolink:NamedThing	erosive pustular dermatosis of the scalp	Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.	DOVES_relaxed.owl
MONDO:0016448	biolink:NamedThing	pseudoxanthoma elasticum-like papillary dermal elastolysis	Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.	DOVES_relaxed.owl
MONDO:0017396	biolink:NamedThing	toxic dermatosis		DOVES_relaxed.owl
MONDO:0017772	biolink:NamedThing	oral erosive lichen		DOVES_relaxed.owl
MONDO:0018025	biolink:NamedThing	chronic actinic dermatitis		DOVES_relaxed.owl
MONDO:0018051	biolink:NamedThing	Jessner lymphocytic infiltration of the skin	Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.	DOVES_relaxed.owl
MONDO:0018302	biolink:NamedThing	acquired kinky hair syndrome	Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.	DOVES_relaxed.owl
MONDO:0018679	biolink:NamedThing	primary cutaneous plasmacytosis		DOVES_relaxed.owl
MONDO:0018680	biolink:NamedThing	cutaneous pseudolymphoma	A pseudolymphoma of the skin.	DOVES_relaxed.owl
MONDO:0018900	biolink:NamedThing	corticosteroid-sensitive aseptic abscess syndrome	Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.	DOVES_relaxed.owl
MONDO:0019268	biolink:NamedThing	epidermal disease	A skin disease that involves the epidermis.	DOVES_relaxed.owl
MONDO:0019547	biolink:NamedThing	Wells syndrome	Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia.	DOVES_relaxed.owl
MONDO:0019945	biolink:NamedThing	solar urticaria	Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation.	DOVES_relaxed.owl
MONDO:0021036	biolink:NamedThing	keratosis pilaris	A form of dry skin characterised by hair follicles plugged by scale.	DOVES_relaxed.owl
MONDO:0021913	biolink:NamedThing	aquagenic pruritus	Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success.	DOVES_relaxed.owl
MONDO:0022020	biolink:NamedThing	Boudhina Yedes Khiari syndrome	Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions	DOVES_relaxed.owl
MONDO:0022749	biolink:NamedThing	non-neoplastic nevus	A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth.	DOVES_relaxed.owl
MONDO:0022907	biolink:NamedThing	cutaneous sclerosis		DOVES_relaxed.owl
MONDO:0023388	biolink:NamedThing	pityriasis rotunda	Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda.	DOVES_relaxed.owl
MONDO:0023679	biolink:NamedThing	hematohidrosis	Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting.	DOVES_relaxed.owl
MONDO:0026045	biolink:NamedThing	prurigo nodularis	Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities.	DOVES_relaxed.owl
MONDO:0035879	biolink:NamedThing	granuloma faciale		DOVES_relaxed.owl
MONDO:0043783	biolink:NamedThing	sclerema neonatorum	A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life.	DOVES_relaxed.owl
MONDO:0002408	biolink:NamedThing	hereditary hyperbilirubinemia	An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome.	DOVES_relaxed.owl
MONDO:0017755	biolink:NamedThing	inborn disorder of bilirubin metabolism	An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0019008	biolink:NamedThing	benign recurrent intrahepatic cholestasis	Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC).	DOVES_relaxed.owl
MONDO:0024288	biolink:NamedThing	hyperbilirubinemia	A disease characterized by elevated level of the pigment bilirubin in the blood.	DOVES_relaxed.owl
MONDO:0700040	biolink:NamedThing	neonatal jaundice due to ABO incompatibility	Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility.	DOVES_relaxed.owl
MONDO:0002410	biolink:NamedThing	pyeloureteritis cystica		DOVES_relaxed.owl
MONDO:0015454	biolink:NamedThing	multiple carboxylase deficiency	Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.	DOVES_relaxed.owl
MONDO:0017688	biolink:NamedThing	disorder of glycolysis		DOVES_relaxed.owl
MONDO:0017689	biolink:NamedThing	disorder of fructose metabolism		DOVES_relaxed.owl
MONDO:0017690	biolink:NamedThing	disorder of galactose metabolism		DOVES_relaxed.owl
MONDO:0017706	biolink:NamedThing	disorder of carbohydrate transmembrane transport and absorption		DOVES_relaxed.owl
MONDO:0018605	biolink:NamedThing	disorders of pentose/polyol metabolism		DOVES_relaxed.owl
MONDO:0019227	biolink:NamedThing	inborn disorder of glycerol metabolism	An inherited metabolic disease that is has its basis in the disruption of glycerol metabolic process.	DOVES_relaxed.owl
MONDO:0800044	biolink:NamedThing	congenital disorder of deglycosylation 1	A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.	DOVES_relaxed.owl
MONDO:0800152	biolink:NamedThing	disorder of galactose and fructose metabolism	An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process.	DOVES_relaxed.owl
MONDO:0009290	biolink:NamedThing	glycogen storage disease II	Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.	DOVES_relaxed.owl
MONDO:0009291	biolink:NamedThing	glycogen storage disease III	Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.	DOVES_relaxed.owl
MONDO:0009292	biolink:NamedThing	glycogen storage disease due to glycogen branching enzyme deficiency	Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.	DOVES_relaxed.owl
MONDO:0009293	biolink:NamedThing	glycogen storage disease V	Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.	DOVES_relaxed.owl
MONDO:0009294	biolink:NamedThing	glycogen storage disease VI	Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.	DOVES_relaxed.owl
MONDO:0009414	biolink:NamedThing	glycogen storage disorder due to hepatic glycogen synthase deficiency	Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.	DOVES_relaxed.owl
MONDO:0009865	biolink:NamedThing	glycogen storage disease due to phosphoglycerate mutase deficiency	A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.	DOVES_relaxed.owl
MONDO:0009867	biolink:NamedThing	lethal congenital glycogen storage disease of heart	Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.	DOVES_relaxed.owl
MONDO:0009868	biolink:NamedThing	glycogen storage disease IXb	Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.	DOVES_relaxed.owl
MONDO:0010281	biolink:NamedThing	Danon disease	Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.	DOVES_relaxed.owl
MONDO:0010362	biolink:NamedThing	glycogen storage disease IXd	A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.	DOVES_relaxed.owl
MONDO:0012693	biolink:NamedThing	glycogen storage disease due to muscle and heart glycogen synthase deficiency	A glycogen storage disease characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.	DOVES_relaxed.owl
MONDO:0013046	biolink:NamedThing	glycogen storage disease due to muscle beta-enolase deficiency	Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.	DOVES_relaxed.owl
MONDO:0013291	biolink:NamedThing	glycogen storage disease XV	Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.	DOVES_relaxed.owl
MONDO:0014389	biolink:NamedThing	polyglucosan body myopathy 1 with or without immunodeficiency	A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.	DOVES_relaxed.owl
MONDO:0014526	biolink:NamedThing	polyglucosan body myopathy type 2	Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.	DOVES_relaxed.owl
MONDO:0016527	biolink:NamedThing	glycogen storage disease due to lactate dehydrogenase deficiency		DOVES_relaxed.owl
MONDO:0100439	biolink:NamedThing	glycogen storage disease IXa2	Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes.	DOVES_relaxed.owl
MONDO:0006201	biolink:NamedThing	ethmoid sinus adenoid cystic carcinoma	An adenoid cystic carcinoma that affects the ethmoid sinus.	DOVES_relaxed.owl
MONDO:0004332	biolink:NamedThing	lung hilum cancer	A malignant neoplasm involving the lung hilus.	DOVES_relaxed.owl
MONDO:0006883	biolink:NamedThing	malignant superior sulcus neoplasm	A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.	DOVES_relaxed.owl
MONDO:0023275	biolink:NamedThing	Graham-Boyle-Troxell syndrome	Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.	DOVES_relaxed.owl
MONDO:0006277	biolink:NamedThing	lung lymphangioleiomyomatosis	Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course.	DOVES_relaxed.owl
MONDO:0014310	biolink:NamedThing	hereditary sclerosing poikiloderma with tendon and pulmonary involvement	Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.	DOVES_relaxed.owl
MONDO:0016214	biolink:NamedThing	pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome	Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.	DOVES_relaxed.owl
MONDO:0002432	biolink:NamedThing	malignant neoplasm of acoustic nerve	A malignant neoplasm involving the vestibulocochlear nerve.	DOVES_relaxed.owl
MONDO:0002434	biolink:NamedThing	oculomotor nerve cancer	A cancer involving a oculomotor nerve.	DOVES_relaxed.owl
MONDO:0003234	biolink:NamedThing	optic nerve astrocytoma	A astrocytoma (excluding glioblastoma) that involves the cranial nerve II.	DOVES_relaxed.owl
MONDO:0003275	biolink:NamedThing	middle ear cancer	A malignant neoplasm involving the middle ear	DOVES_relaxed.owl
MONDO:0003278	biolink:NamedThing	inner ear cancer	A malignant neoplasm involving the internal ear.	DOVES_relaxed.owl
MONDO:0002437	biolink:NamedThing	dehydration polycythemia	Polycythemia resulting from dehydration.	DOVES_relaxed.owl
MONDO:0016541	biolink:NamedThing	acquired secondary polycythemia	An instance of secondary polycythemia that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0002440	biolink:NamedThing	erythropoietin polycythemia	Polycythemia that is caused by excess erythropoietin.	DOVES_relaxed.owl
MONDO:0005572	biolink:NamedThing	polycythemia due to hypoxia	Polycythemia resulting from hypoxia.	DOVES_relaxed.owl
MONDO:0019538	biolink:NamedThing	Gaisbock syndrome	Polycythemia that is caused by stress.	DOVES_relaxed.owl
MONDO:0002441	biolink:NamedThing	Jervell and Lange-Nielsen syndrome	An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.	DOVES_relaxed.owl
MONDO:0010958	biolink:NamedThing	cardiac arrhythmia, ankyrin-B-related		DOVES_relaxed.owl
MONDO:0011377	biolink:NamedThing	long QT syndrome 3	An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.	DOVES_relaxed.owl
MONDO:0012736	biolink:NamedThing	long QT syndrome 9	Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.	DOVES_relaxed.owl
MONDO:0012737	biolink:NamedThing	long QT syndrome 10	Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene.	DOVES_relaxed.owl
MONDO:0012738	biolink:NamedThing	long QT syndrome 11	Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene.	DOVES_relaxed.owl
MONDO:0013062	biolink:NamedThing	long QT syndrome 12	Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene.	DOVES_relaxed.owl
MONDO:0013279	biolink:NamedThing	long QT syndrome 13	Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene.	DOVES_relaxed.owl
MONDO:0013367	biolink:NamedThing	long QT syndrome 2	An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.	DOVES_relaxed.owl
MONDO:0013370	biolink:NamedThing	long QT syndrome 6	Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene.	DOVES_relaxed.owl
MONDO:0013372	biolink:NamedThing	long QT syndrome 5	Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene.	DOVES_relaxed.owl
MONDO:0014548	biolink:NamedThing	long QT syndrome 14	Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene.	DOVES_relaxed.owl
MONDO:0014550	biolink:NamedThing	long QT syndrome 15	Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene.	DOVES_relaxed.owl
MONDO:0032756	biolink:NamedThing	long qt syndrome 8		DOVES_relaxed.owl
MONDO:0032915	biolink:NamedThing	long QT syndrome 16		DOVES_relaxed.owl
MONDO:0100316	biolink:NamedThing	long QT syndrome 1		DOVES_relaxed.owl
MONDO:0800323	biolink:NamedThing	long QT syndrome 4		DOVES_relaxed.owl
MONDO:0002443	biolink:NamedThing	bruxism	Excessive clenching of the jaw and grinding of the teeth.	DOVES_relaxed.owl
MONDO:0003406	biolink:NamedThing	sleep-wake disorder	Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle.	DOVES_relaxed.owl
MONDO:0004617	biolink:NamedThing	recurrent hypersomnia	Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)	DOVES_relaxed.owl
MONDO:0005466	biolink:NamedThing	hypersomnia	A sleep disorder characterized by excessive sleepiness.	DOVES_relaxed.owl
MONDO:0005905	biolink:NamedThing	periodic limb movement disorder	Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)	DOVES_relaxed.owl
MONDO:0005937	biolink:NamedThing	REM sleep behavior disorder	A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)	DOVES_relaxed.owl
MONDO:0011397	biolink:NamedThing	autosomal dominant cerebellar ataxia, deafness and narcolepsy	Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.	DOVES_relaxed.owl
MONDO:0024361	biolink:NamedThing	circadian rhythm sleep disorder	A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)	DOVES_relaxed.owl
MONDO:0024376	biolink:NamedThing	sleep disorder, initiating and maintaining sleep		DOVES_relaxed.owl
MONDO:0005131	biolink:NamedThing	cervical carcinoma	A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.	DOVES_relaxed.owl
MONDO:0021532	biolink:NamedThing	fibroma of prostate	A fibroma that involves the prostate gland.	DOVES_relaxed.owl
MONDO:0002455	biolink:NamedThing	exocervical carcinoma	A carcinoma that arises from the squamous epithelium of the exocervix.	DOVES_relaxed.owl
MONDO:0006132	biolink:NamedThing	cervical adenoid basal carcinoma	A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations.	DOVES_relaxed.owl
MONDO:0006138	biolink:NamedThing	cervical large cell neuroendocrine carcinoma	A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli.	DOVES_relaxed.owl
MONDO:0006142	biolink:NamedThing	cervical small cell carcinoma	A small cell carcinoma arising from the cervix.	DOVES_relaxed.owl
MONDO:0016285	biolink:NamedThing	papillary carcinoma of the cervix uteri	A papillary carcinoma that involves the uterine cervix.	DOVES_relaxed.owl
MONDO:0042487	biolink:NamedThing	uterine cervix carcinoma in situ	Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003	DOVES_relaxed.owl
MONDO:0015161	biolink:NamedThing	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		DOVES_relaxed.owl
MONDO:0007059	biolink:NamedThing	acrorenal syndrome	Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.	DOVES_relaxed.owl
MONDO:0007198	biolink:NamedThing	Ascher syndrome	Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.	DOVES_relaxed.owl
MONDO:0007252	biolink:NamedThing	Gordon syndrome	An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.	DOVES_relaxed.owl
MONDO:0007337	biolink:NamedThing	cleft palate-lateral synechia syndrome	Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.	DOVES_relaxed.owl
MONDO:0007395	biolink:NamedThing	craniofacial-deafness-hand syndrome	Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features.	DOVES_relaxed.owl
MONDO:0007409	biolink:NamedThing	cryptomicrotia-brachydactyly-excess fingertip arch syndrome	Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.	DOVES_relaxed.owl
MONDO:0007428	biolink:NamedThing	deafness-craniofacial syndrome	Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.	DOVES_relaxed.owl
MONDO:0007461	biolink:NamedThing	short stature-valvular heart disease-characteristic facies syndrome	Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.	DOVES_relaxed.owl
MONDO:0007604	biolink:NamedThing	femoral-facial syndrome	Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.	DOVES_relaxed.owl
MONDO:0007680	biolink:NamedThing	multinodular goiter-cystic kidney-polydactyly syndrome	Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.	DOVES_relaxed.owl
MONDO:0007795	biolink:NamedThing	mullerian duct anomalies-limb anomalies syndrome	Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0007904	biolink:NamedThing	median nodule of the upper lip	Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion.	DOVES_relaxed.owl
MONDO:0007943	biolink:NamedThing	Nager acrofacial dysostosis	Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.	DOVES_relaxed.owl
MONDO:0007953	biolink:NamedThing	Binder syndrome	A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.	DOVES_relaxed.owl
MONDO:0008113	biolink:NamedThing	Schilbach-Rott syndrome	Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.	DOVES_relaxed.owl
MONDO:0008182	biolink:NamedThing	nasopalpebral lipoma-coloboma syndrome	Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.	DOVES_relaxed.owl
MONDO:0008312	biolink:NamedThing	autosomal dominant prognathism	Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).	DOVES_relaxed.owl
MONDO:0008335	biolink:NamedThing	short stature-craniofacial anomalies-genital hypoplasia syndrome	Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.	DOVES_relaxed.owl
MONDO:0008404	biolink:NamedThing	scalp-ear-nipple syndrome	Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0008421	biolink:NamedThing	flat face-microstomia-ear anomaly syndrome	Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.	DOVES_relaxed.owl
MONDO:0008467	biolink:NamedThing	Czeizel-Losonci syndrome	Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.	DOVES_relaxed.owl
MONDO:0008490	biolink:NamedThing	otospondylomegaepiphyseal dysplasia, autosomal dominant	A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.	DOVES_relaxed.owl
MONDO:0008642	biolink:NamedThing	VACTERL/vater association	VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.	DOVES_relaxed.owl
MONDO:0008645	biolink:NamedThing	ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome	This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.	DOVES_relaxed.owl
MONDO:0008673	biolink:NamedThing	acrofacial dysostosis, Weyers type	Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.	DOVES_relaxed.owl
MONDO:0008706	biolink:NamedThing	Ackerman syndrome	Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.	DOVES_relaxed.owl
MONDO:0008707	biolink:NamedThing	acro-renal-mandibular syndrome	Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.	DOVES_relaxed.owl
MONDO:0008712	biolink:NamedThing	acrocraniofacial dysostosis	Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.	DOVES_relaxed.owl
MONDO:0008741	biolink:NamedThing	PAGOD syndrome	PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.	DOVES_relaxed.owl
MONDO:0008744	biolink:NamedThing	alar cartilages hypoplasia-coloboma-telecanthus syndrome	Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.	DOVES_relaxed.owl
MONDO:0008750	biolink:NamedThing	microcephaly-albinism-digital anomalies syndrome	Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.	DOVES_relaxed.owl
MONDO:0008850	biolink:NamedThing	Cooper-Jabs syndrome	Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive.	DOVES_relaxed.owl
MONDO:0008857	biolink:NamedThing	Beemer-Ertbruggen syndrome	Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.	DOVES_relaxed.owl
MONDO:0008875	biolink:NamedThing	blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome	Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0008898	biolink:NamedThing	camptodactyly syndrome, Guadalajara type 1	Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.	DOVES_relaxed.owl
MONDO:0008991	biolink:NamedThing	Verloove Vanhorick-Brubakk syndrome	Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.	DOVES_relaxed.owl
MONDO:0008992	biolink:NamedThing	Juberg-Hayward syndrome	Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.	DOVES_relaxed.owl
MONDO:0009008	biolink:NamedThing	heart defect - tongue hamartoma - polysyndactyly syndrome		DOVES_relaxed.owl
MONDO:0009121	biolink:NamedThing	von Voss-Cherstvoy syndrome	Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.	DOVES_relaxed.owl
MONDO:0009233	biolink:NamedThing	Fibulo-ulnar hypoplasia-renal anomalies syndrome	Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.	DOVES_relaxed.owl
MONDO:0009270	biolink:NamedThing	genito-palato-cardiac syndrome	Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.	DOVES_relaxed.owl
MONDO:0009342	biolink:NamedThing	Hirschsprung disease-hearing loss-polydactyly syndrome	An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.	DOVES_relaxed.owl
MONDO:0009363	biolink:NamedThing	hydrocephaly-tall stature-joint laxity syndrome	Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.	DOVES_relaxed.owl
MONDO:0009367	biolink:NamedThing	McKusick-Kaufman syndrome	McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.	DOVES_relaxed.owl
MONDO:0009402	biolink:NamedThing	acrofrontofacionasal dysostosis 2	A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.	DOVES_relaxed.owl
MONDO:0009533	biolink:NamedThing	Dahlberg-Borer-Newcomer syndrome	Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.	DOVES_relaxed.owl
MONDO:0009547	biolink:NamedThing	macrosomia-microphthalmia-cleft palate syndrome	Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.	DOVES_relaxed.owl
MONDO:0009589	biolink:NamedThing	mesomelic dwarfism-cleft palate-camptodactyly syndrome	Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0009670	biolink:NamedThing	lethal congenital contracture syndrome 1	Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.	DOVES_relaxed.owl
MONDO:0009716	biolink:NamedThing	Richieri Costa-da Silva syndrome		DOVES_relaxed.owl
MONDO:0009720	biolink:NamedThing	Keipert syndrome	A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.	DOVES_relaxed.owl
MONDO:0009731	biolink:NamedThing	nephrosis-deafness-urinary tract-digital malformations syndrome	Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant.	DOVES_relaxed.owl
MONDO:0009859	biolink:NamedThing	PHAVER syndrome	Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.	DOVES_relaxed.owl
MONDO:0009900	biolink:NamedThing	polysyndactyly-cardiac malformation syndrome	Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).	DOVES_relaxed.owl
MONDO:0009969	biolink:NamedThing	renal-genital-middle ear anomalies		DOVES_relaxed.owl
MONDO:0009998	biolink:NamedThing	Richieri Costa-Pereira syndrome	Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0010129	biolink:NamedThing	thymic-renal-anal-lung dysplasia	This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.	DOVES_relaxed.owl
MONDO:0010154	biolink:NamedThing	trigonocephaly-bifid nose-acral anomalies syndrome	Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges.	DOVES_relaxed.owl
MONDO:0010408	biolink:NamedThing	syndactyly-telecanthus-anogenital and renal malformations syndrome	This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.	DOVES_relaxed.owl
MONDO:0010554	biolink:NamedThing	Abruzzo-Erickson syndrome	Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.	DOVES_relaxed.owl
MONDO:0010742	biolink:NamedThing	pentalogy of Cantrell	Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.	DOVES_relaxed.owl
MONDO:0010855	biolink:NamedThing	short tarsus-absence of lower eyelashes syndrome	Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	DOVES_relaxed.owl
MONDO:0010867	biolink:NamedThing	PARC syndrome	PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.	DOVES_relaxed.owl
MONDO:0010883	biolink:NamedThing	pectus excavatum-macrocephaly-dysplastic nails syndrome	Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.	DOVES_relaxed.owl
MONDO:0010925	biolink:NamedThing	velo-facial-skeletal syndrome	Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.	DOVES_relaxed.owl
MONDO:0011007	biolink:NamedThing	diaphragmatic defect-limb deficiency-skull defect syndrome	This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive foetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four foetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies.	DOVES_relaxed.owl
MONDO:0011008	biolink:NamedThing	cleft lip/palate-intestinal malrotation-cardiopathy syndrome	Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997.	DOVES_relaxed.owl
MONDO:0011010	biolink:NamedThing	Matthew-Wood syndrome	Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.	DOVES_relaxed.owl
MONDO:0011081	biolink:NamedThing	dislocation of the hip-dysmorphism syndrome	Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.	DOVES_relaxed.owl
MONDO:0011243	biolink:NamedThing	grange syndrome	Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.	DOVES_relaxed.owl
MONDO:0011795	biolink:NamedThing	anonychia-microcephaly syndrome	Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.	DOVES_relaxed.owl
MONDO:0011868	biolink:NamedThing	lethal congenital contracture syndrome 2	Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.	DOVES_relaxed.owl
MONDO:0011911	biolink:NamedThing	craniolenticulosutural dysplasia	Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.	DOVES_relaxed.owl
MONDO:0011977	biolink:NamedThing	8q22.1 microdeletion syndrome	The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.	DOVES_relaxed.owl
MONDO:0012032	biolink:NamedThing	Braddock syndrome	Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.	DOVES_relaxed.owl
MONDO:0012165	biolink:NamedThing	BNAR syndrome	BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.	DOVES_relaxed.owl
MONDO:0012324	biolink:NamedThing	Frias syndrome	A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.	DOVES_relaxed.owl
MONDO:0012656	biolink:NamedThing	lethal congenital contracture syndrome 3	Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.	DOVES_relaxed.owl
MONDO:0012853	biolink:NamedThing	Fontaine progeroid syndrome	A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.	DOVES_relaxed.owl
MONDO:0013252	biolink:NamedThing	Warsaw breakage syndrome	A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.	DOVES_relaxed.owl
MONDO:0014801	biolink:NamedThing	even-plus syndrome		DOVES_relaxed.owl
MONDO:0015240	biolink:NamedThing	digitotalar dysmorphism	Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis.	DOVES_relaxed.owl
MONDO:0015284	biolink:NamedThing	heart-hand syndrome type 2	Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).	DOVES_relaxed.owl
MONDO:0015326	biolink:NamedThing	night blindness-skeletal anomalies-dysmorphism syndrome	This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).	DOVES_relaxed.owl
MONDO:0015367	biolink:NamedThing	Charlie M syndrome	Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.	DOVES_relaxed.owl
MONDO:0016031	biolink:NamedThing	facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome		DOVES_relaxed.owl
MONDO:0016219	biolink:NamedThing	dysmorphism-pectus carinatum-joint laxity syndrome	Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.	DOVES_relaxed.owl
MONDO:0016294	biolink:NamedThing	Hirschsprung disease-type D brachydactyly syndrome	Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.	DOVES_relaxed.owl
MONDO:0017788	biolink:NamedThing	contractures - webbed neck - micrognathia - hypoplastic nipples syndrome		DOVES_relaxed.owl
MONDO:0019178	biolink:NamedThing	auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome	The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.	DOVES_relaxed.owl
MONDO:0019387	biolink:NamedThing	macrostomia-preauricular tags-external ophthalmoplegia syndrome	Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0019388	biolink:NamedThing	pelvis syndrome	PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.	DOVES_relaxed.owl
MONDO:0020470	biolink:NamedThing	49,XYYYY syndrome	49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.	DOVES_relaxed.owl
MONDO:0007073	biolink:NamedThing	hypoglossia-hypodactyly syndrome	Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0008465	biolink:NamedThing	Patterson-Stevenson-Fontaine syndrome	Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.	DOVES_relaxed.owl
MONDO:0011154	biolink:NamedThing	acrofacial dysostosis, Palagonia type	Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.	DOVES_relaxed.owl
MONDO:0013271	biolink:NamedThing	frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome		DOVES_relaxed.owl
MONDO:0016510	biolink:NamedThing	epibulbar lipodermoid-preauricular appendage-polythelia syndrome	Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.	DOVES_relaxed.owl
MONDO:0018980	biolink:NamedThing	acrofacial dysostosis, Kennedy-Teebi type	Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.	DOVES_relaxed.owl
MONDO:0015483	biolink:NamedThing	mandibulofacial dysostosis	A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0017240	biolink:NamedThing	acrodysostosis with multiple hormone resistance		DOVES_relaxed.owl
MONDO:0023129	biolink:NamedThing	Fara Chlupackova syndrome		DOVES_relaxed.owl
MONDO:0007167	biolink:NamedThing	atelosteogenesis type I	Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.	DOVES_relaxed.owl
MONDO:0007168	biolink:NamedThing	atelosteogenesis type III	A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	DOVES_relaxed.owl
MONDO:0007987	biolink:NamedThing	Kniest dysplasia	Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).	DOVES_relaxed.owl
MONDO:0009727	biolink:NamedThing	atelosteogenesis type II	A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.	DOVES_relaxed.owl
MONDO:0018571	biolink:NamedThing	contractures-developmental delay-Pierre Robin syndrome		DOVES_relaxed.owl
MONDO:0007137	biolink:NamedThing	isolated congenital anosmia	This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome.	DOVES_relaxed.owl
MONDO:0007233	biolink:NamedThing	second branchial cleft anomaly	A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck.	DOVES_relaxed.owl
MONDO:0019634	biolink:NamedThing	familial nasal acilia	Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.	DOVES_relaxed.owl
MONDO:0023682	biolink:NamedThing	tympanic paraganglioma	A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss.	DOVES_relaxed.owl
MONDO:0044720	biolink:NamedThing	cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome		DOVES_relaxed.owl
MONDO:8000018	biolink:NamedThing	benign paroxysmal positional vertigo	Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed.	DOVES_relaxed.owl
MONDO:8000019	biolink:NamedThing	vertigo, benign recurrent, 1		DOVES_relaxed.owl
MONDO:0007735	biolink:NamedThing	congenital Horner syndrome	Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.	DOVES_relaxed.owl
MONDO:0008209	biolink:NamedThing	Char syndrome	Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.	DOVES_relaxed.owl
MONDO:0008340	biolink:NamedThing	ptosis, hereditary congenital, 1	Congenital ptosis is characterized by superior eyelid drop present at birth.	DOVES_relaxed.owl
MONDO:0008341	biolink:NamedThing	ptosis-strabismus-ectopic pupils syndrome	Ptosis-strabismus-ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0008665	biolink:NamedThing	ptosis-vocal cord paralysis syndrome	Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.	DOVES_relaxed.owl
MONDO:0009123	biolink:NamedThing	dopamine beta-hydroxylase deficiency	Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.	DOVES_relaxed.owl
MONDO:0009920	biolink:NamedThing	Acrootoocular syndrome	Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.	DOVES_relaxed.owl
MONDO:0010181	biolink:NamedThing	oculogastrointestinal muscular dystrophy	Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.	DOVES_relaxed.owl
MONDO:0011266	biolink:NamedThing	myotonic dystrophy type 2	Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.	DOVES_relaxed.owl
MONDO:0016457	biolink:NamedThing	ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome	Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.	DOVES_relaxed.owl
MONDO:0018997	biolink:NamedThing	Noonan syndrome	Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.	DOVES_relaxed.owl
MONDO:0020461	biolink:NamedThing	epiblepharon		DOVES_relaxed.owl
MONDO:0033809	biolink:NamedThing	isolated blepharochalasis		DOVES_relaxed.owl
MONDO:0044715	biolink:NamedThing	metopic ridging-ptosis-facial dysmorphism syndrome		DOVES_relaxed.owl
MONDO:0020167	biolink:NamedThing	malposition of external canthus		DOVES_relaxed.owl
MONDO:0010580	biolink:NamedThing	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.	DOVES_relaxed.owl
MONDO:0044981	biolink:NamedThing	pseudoallergy		DOVES_relaxed.owl
MONDO:0100053	biolink:NamedThing	anaphylaxis	An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting.	DOVES_relaxed.owl
MONDO:0002659	biolink:NamedThing	uveal cancer	A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris.	DOVES_relaxed.owl
MONDO:0003072	biolink:NamedThing	retinal cancer	A malignant neoplasm involving the retina.	DOVES_relaxed.owl
MONDO:0044913	biolink:NamedThing	metastatic malignant neoplasm in the eye	A malignant neoplasm that has spread to the eye from another anatomic site.	DOVES_relaxed.owl
MONDO:0021488	biolink:NamedThing	benign neoplasm of lacrimal gland	A benign neoplasm that involves the lacrimal gland.	DOVES_relaxed.owl
MONDO:0002944	biolink:NamedThing	external ear carcinoma	A carcinoma that arises from epithelial cells of the external ear	DOVES_relaxed.owl
MONDO:0003190	biolink:NamedThing	middle ear carcinoma	A carcinoma that arises from epithelial cells of the middle ear	DOVES_relaxed.owl
MONDO:0023644	biolink:NamedThing	lip and oral cavity carcinoma	A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas.	DOVES_relaxed.owl
MONDO:0021233	biolink:NamedThing	ear neoplasm	A neoplasm (disease) that involves the ear.	DOVES_relaxed.owl
MONDO:0002469	biolink:NamedThing	lacrimal gland carcinoma ex pleomorphic adenoma	A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland.	DOVES_relaxed.owl
MONDO:0006403	biolink:NamedThing	salivary gland carcinoma ex pleomorphic adenoma	A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.	DOVES_relaxed.owl
MONDO:0010495	biolink:NamedThing	trichothiodystrophy 5, nonphotosensitive	Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.	DOVES_relaxed.owl
MONDO:0014841	biolink:NamedThing	trichothiodystrophy 6, nonphotosensitive	Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene.	DOVES_relaxed.owl
MONDO:0021013	biolink:NamedThing	trichothiodystrophy 4, nonphotosensitive	A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.	DOVES_relaxed.owl
MONDO:0030517	biolink:NamedThing	trichothiodystrophy 8, nonphotosensitive		DOVES_relaxed.owl
MONDO:0030518	biolink:NamedThing	trichothiodystrophy 9, nonphotosensitive		DOVES_relaxed.owl
MONDO:0032806	biolink:NamedThing	trichothiodystrophy 7, nonphotosensitive		DOVES_relaxed.owl
MONDO:0008842	biolink:NamedThing	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.	DOVES_relaxed.owl
MONDO:0010781	biolink:NamedThing	ataxia and polyneuropathy, adult-onset		DOVES_relaxed.owl
MONDO:0011225	biolink:NamedThing	severe combined immunodeficiency due to DCLRE1C deficiency	Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.	DOVES_relaxed.owl
MONDO:0020771	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy		DOVES_relaxed.owl
MONDO:0031219	biolink:NamedThing	mismatch repair cancer syndrome		DOVES_relaxed.owl
MONDO:0006351	biolink:NamedThing	parachordoma	A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities.	DOVES_relaxed.owl
MONDO:0002928	biolink:NamedThing	carcinosarcoma	A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements.	DOVES_relaxed.owl
MONDO:0016701	biolink:NamedThing	oligoastrocytic tumor		DOVES_relaxed.owl
MONDO:0024711	biolink:NamedThing	malignant mixed epithelial stromal tumor of the kidney	A mixed epithelial stromal tumor of the kidney with malignant stromal features.	DOVES_relaxed.owl
MONDO:0005193	biolink:NamedThing	prostate intraepithelial neoplasia	A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade.	DOVES_relaxed.owl
MONDO:0002486	biolink:NamedThing	lobular neoplasia	A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma.	DOVES_relaxed.owl
MONDO:0004562	biolink:NamedThing	breast apocrine carcinoma in situ	A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation.	DOVES_relaxed.owl
MONDO:0006184	biolink:NamedThing	ductal breast carcinoma in situ and lobular carcinoma in situ	The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion.	DOVES_relaxed.owl
MONDO:0016251	biolink:NamedThing	salivary gland type cancer of the breast	Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.	DOVES_relaxed.owl
MONDO:0004938	biolink:NamedThing	substance dependence	The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence.	DOVES_relaxed.owl
MONDO:0007008	biolink:NamedThing	uremia	A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms.	DOVES_relaxed.owl
MONDO:0002493	biolink:NamedThing	prostatic acinar adenocarcinoma	An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants.	DOVES_relaxed.owl
MONDO:0003624	biolink:NamedThing	acinic cell breast carcinoma	A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation.	DOVES_relaxed.owl
MONDO:0006346	biolink:NamedThing	pancreatic acinar cell carcinoma	An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis.	DOVES_relaxed.owl
MONDO:0006355	biolink:NamedThing	parotid gland acinic cell carcinoma	An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area.	DOVES_relaxed.owl
MONDO:0006400	biolink:NamedThing	salivary gland acinic cell carcinoma	A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis.	DOVES_relaxed.owl
MONDO:0004336	biolink:NamedThing	rectal signet ring cell adenocarcinoma	An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population.	DOVES_relaxed.owl
MONDO:0002592	biolink:NamedThing	invasive malignant thymoma	A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues.	DOVES_relaxed.owl
MONDO:0006256	biolink:NamedThing	invasive breast carcinoma	A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women.	DOVES_relaxed.owl
MONDO:0002911	biolink:NamedThing	brain stem glioma	A neuroglial tumor that arises from the brain stem.	DOVES_relaxed.owl
MONDO:0003169	biolink:NamedThing	diencephalic astrocytomas	A astrocytoma that involves the diencephalon.	DOVES_relaxed.owl
MONDO:0016683	biolink:NamedThing	gliomatosis cerebri	A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)	DOVES_relaxed.owl
MONDO:0016706	biolink:NamedThing	chordoid glioma of the third ventricle	A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.	DOVES_relaxed.owl
MONDO:0002503	biolink:NamedThing	adult astrocytic tumour	An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma.	DOVES_relaxed.owl
MONDO:0002505	biolink:NamedThing	childhood astrocytic tumor	An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location.	DOVES_relaxed.owl
MONDO:0003170	biolink:NamedThing	gliofibroma	An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma).	DOVES_relaxed.owl
MONDO:0016680	biolink:NamedThing	high grade astrocytic tumor	An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor).	DOVES_relaxed.owl
MONDO:0019781	biolink:NamedThing	astrocytoma (excluding glioblastoma)	A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma.	DOVES_relaxed.owl
MONDO:0021638	biolink:NamedThing	low grade astrocytic tumor	A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II).	DOVES_relaxed.owl
MONDO:0002915	biolink:NamedThing	childhood infratentorial neoplasm	A neoplasm that affects the infratentorial region of the brain and occurs during childhood.	DOVES_relaxed.owl
MONDO:0003478	biolink:NamedThing	childhood ependymoma	An ependymoma that arises from the central nervous system and occurs during childhood.	DOVES_relaxed.owl
MONDO:0003751	biolink:NamedThing	childhood germ cell tumor	A germ cell tumor that occurs during childhood.	DOVES_relaxed.owl
MONDO:0003932	biolink:NamedThing	childhood optic nerve glioma	A glioma affecting the optic tract and occurring in childhood.	DOVES_relaxed.owl
MONDO:0019752	biolink:NamedThing	pediatric Castleman disease	Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms.	DOVES_relaxed.owl
MONDO:0022642	biolink:NamedThing	childhood carcinoid tumor	A rare carcinoid tumor that occurs during childhood.	DOVES_relaxed.owl
MONDO:0024744	biolink:NamedThing	childhood choroid plexus neoplasm	A neoplasm that arises from the choroid plexus in the brain and occurs during childhood.	DOVES_relaxed.owl
MONDO:0037250	biolink:NamedThing	childhood testicular neoplasm	A neoplasm that arises from the testis during childhood.	DOVES_relaxed.owl
MONDO:0044767	biolink:NamedThing	childhood adrenal gland pheochromocytoma	A rare pheochromocytoma of the adrenal gland that occurs during childhood.	DOVES_relaxed.owl
MONDO:0004845	biolink:NamedThing	aphthous stomatitis	A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring.	DOVES_relaxed.owl
MONDO:0004848	biolink:NamedThing	ulcerative stomatitis	Inflammation of the mouth mucosa associated with the presence of ulcers.	DOVES_relaxed.owl
MONDO:0005318	biolink:NamedThing	canker sore	A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology.	DOVES_relaxed.owl
MONDO:0005588	biolink:NamedThing	chemotherapy-induced oral mucositis	Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment.	DOVES_relaxed.owl
MONDO:0005792	biolink:NamedThing	herpes simplex virus gingivostomatitis	Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents.	DOVES_relaxed.owl
MONDO:0006723	biolink:NamedThing	denture stomatitis	Inflammation of the mouth due to denture irritation.	DOVES_relaxed.owl
MONDO:0002509	biolink:NamedThing	non-specific granulomatous orchitis	Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena.	DOVES_relaxed.owl
MONDO:0006350	biolink:NamedThing	papillary transitional cell carcinoma	A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis.	DOVES_relaxed.owl
MONDO:0004868	biolink:NamedThing	biliary tract disorder	A disease involving the biliary tree.	DOVES_relaxed.owl
MONDO:0006216	biolink:NamedThing	gallbladder adenoma	A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary.	DOVES_relaxed.owl
MONDO:0006218	biolink:NamedThing	gallbladder biliary intraepithelial neoplasia	A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity.	DOVES_relaxed.owl
MONDO:0037939	biolink:NamedThing	porphyria	Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.	DOVES_relaxed.owl
MONDO:0024876	biolink:NamedThing	tendon sheath disorder	A disease that involves the tendon sheath.	DOVES_relaxed.owl
MONDO:0006442	biolink:NamedThing	tendon sheath fibroma	A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation.	DOVES_relaxed.owl
MONDO:0003244	biolink:NamedThing	central nervous system mesenchymal non-meningothelial tumor	A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0003512	biolink:NamedThing	mediastinal mesenchymal tumor	A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma.	DOVES_relaxed.owl
MONDO:0004187	biolink:NamedThing	nodular fasciitis	A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.	DOVES_relaxed.owl
MONDO:0006359	biolink:NamedThing	neoplasm with perivascular epithelioid cell differentiation	A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.	DOVES_relaxed.owl
MONDO:0007608	biolink:NamedThing	desmoid tumor	A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.	DOVES_relaxed.owl
MONDO:0015798	biolink:NamedThing	inflammatory myofibroblastic tumor	A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells.	DOVES_relaxed.owl
MONDO:0016236	biolink:NamedThing	kaposiform hemangioendothelioma	Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.	DOVES_relaxed.owl
MONDO:0019971	biolink:NamedThing	melanoma of soft tissue		DOVES_relaxed.owl
MONDO:0024892	biolink:NamedThing	soft tissue amyloid neoplasm	A soft tissue neoplasm composed of acellular amyloid material.	DOVES_relaxed.owl
MONDO:0037745	biolink:NamedThing	fibromyxoid tumor	A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present.	DOVES_relaxed.owl
MONDO:0003461	biolink:NamedThing	fallopian tube serous adenofibroma	A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium.	DOVES_relaxed.owl
MONDO:0002540	biolink:NamedThing	childhood oligodendroglioma	An oligodendroglioma that arises from the central nervous system and occurs during childhood.	DOVES_relaxed.owl
MONDO:0002623	biolink:NamedThing	pediatric osteosarcoma	An osteosarcoma occurring in childhood.	DOVES_relaxed.owl
MONDO:0002678	biolink:NamedThing	pediatric fibrosarcoma	A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	DOVES_relaxed.owl
MONDO:0002685	biolink:NamedThing	childhood choroid plexus carcinoma	A choroid plexus carcinoma that occurs during childhood.	DOVES_relaxed.owl
MONDO:0002798	biolink:NamedThing	childhood central nervous system primitive neuroectodermal neoplasm	A central nervous system embryonal tumor, not otherwise specified that occurs in childhood.	DOVES_relaxed.owl
MONDO:0002914	biolink:NamedThing	childhood brain stem neoplasm	A neoplasm that affects the brain stem and occurs during childhood.	DOVES_relaxed.owl
MONDO:0003041	biolink:NamedThing	pediatric mesenchymal chondrosarcoma	A mesenchymal chondrosarcoma occurring in children.	DOVES_relaxed.owl
MONDO:0003587	biolink:NamedThing	pediatric liposarcoma	A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.	DOVES_relaxed.owl
MONDO:0003691	biolink:NamedThing	childhood malignant mesenchymoma	A malignant mesenchymoma occurring in children.	DOVES_relaxed.owl
MONDO:0003898	biolink:NamedThing	pediatric myxoid chondrosarcoma	A myxoid chondrosarcoma occurring in children.	DOVES_relaxed.owl
MONDO:0003992	biolink:NamedThing	childhood botryoid rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.	DOVES_relaxed.owl
MONDO:0004045	biolink:NamedThing	pediatric intraocular retinoblastoma	Retinoblastoma during childhood that has not spread beyond the eye.	DOVES_relaxed.owl
MONDO:0004105	biolink:NamedThing	childhood epithelioid sarcoma	An epithelioid sarcoma occurring in childhood.	DOVES_relaxed.owl
MONDO:0004233	biolink:NamedThing	childhood pleomorphic rhabdomyosarcoma	A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells.	DOVES_relaxed.owl
MONDO:0004248	biolink:NamedThing	pediatric infratentorial ependymoma	An ependymoma that arises from the infratentorial region of the brain and occurs during childhood.	DOVES_relaxed.owl
MONDO:0004249	biolink:NamedThing	pediatric supratentorial ependymoma	An ependymoma that arises from the supratentorial region of the brain and occurs during childhood.	DOVES_relaxed.owl
MONDO:0004350	biolink:NamedThing	pediatric extraocular retinoblastoma	Retinoblastoma during childhood that has spread beyond the eye.	DOVES_relaxed.owl
MONDO:0004479	biolink:NamedThing	malignant childhood germ cell neoplasm	A malignant germ cell tumor that occurs during childhood.	DOVES_relaxed.owl
MONDO:0011014	biolink:NamedThing	pleuropulmonary blastoma	A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas.	DOVES_relaxed.owl
MONDO:0018055	biolink:NamedThing	pediatric hepatocellular carcinoma	Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.	DOVES_relaxed.owl
MONDO:0036511	biolink:NamedThing	childhood malignant kidney neoplasm	A malignant neoplasm that affects the kidney and occurs in childhood.	DOVES_relaxed.owl
MONDO:0016695	biolink:NamedThing	oligodendroglioma	A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0002541	biolink:NamedThing	spinal cord oligodendroglioma	A oligodendroglioma that involves the spinal cord.	DOVES_relaxed.owl
MONDO:0002543	biolink:NamedThing	adult oligodendroglioma	An oligodendroglioma occurring during adulthood.	DOVES_relaxed.owl
MONDO:0003174	biolink:NamedThing	spinal cord astrocytoma	A low or high grade astrocytoma that arises in the spinal cord.	DOVES_relaxed.owl
MONDO:0004363	biolink:NamedThing	adult spinal cord glioblastoma	A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5)	DOVES_relaxed.owl
MONDO:0021546	biolink:NamedThing	ependymal tumor of spinal cord	An ependymal tumor that arises from the spinal cord.	DOVES_relaxed.owl
MONDO:0018744	biolink:NamedThing	oligodendroglial tumor	Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).	DOVES_relaxed.owl
MONDO:0006317	biolink:NamedThing	neurothekeoma	A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma.	DOVES_relaxed.owl
MONDO:0019404	biolink:NamedThing	perineurioma	A usually benign perineurioma not associated with a nerve, arising from the soft tissues.	DOVES_relaxed.owl
MONDO:0016752	biolink:NamedThing	benign peripheral nerve sheath tumor		DOVES_relaxed.owl
MONDO:0017585	biolink:NamedThing	painful orbital and systemic neurofibromas-marfanoid habitus syndrome		DOVES_relaxed.owl
MONDO:0016705	biolink:NamedThing	angiocentric glioma	Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.	DOVES_relaxed.owl
MONDO:0002551	biolink:NamedThing	c-P angle neurinoma		DOVES_relaxed.owl
MONDO:0003141	biolink:NamedThing	cerebellopontine angle embryonal tumor	A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain.	DOVES_relaxed.owl
MONDO:0003860	biolink:NamedThing	cerebellopontine angle meningioma	A meningioma that affects the cerebellopontine angle.	DOVES_relaxed.owl
MONDO:0002552	biolink:NamedThing	vascular myelopathy		DOVES_relaxed.owl
MONDO:0002565	biolink:NamedThing	myelitis	An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence.	DOVES_relaxed.owl
MONDO:0017987	biolink:NamedThing	syringomyelia	Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).	DOVES_relaxed.owl
MONDO:0043797	biolink:NamedThing	spinal cord injury	Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.).	DOVES_relaxed.owl
MONDO:0002563	biolink:NamedThing	jejunal somatostatinoma	A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures.	DOVES_relaxed.owl
MONDO:0006257	biolink:NamedThing	jejunal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	DOVES_relaxed.owl
MONDO:0005134	biolink:NamedThing	experimental autoimmune encephalomyelitis	An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis.	DOVES_relaxed.owl
MONDO:0004959	biolink:NamedThing	plasma cell neoplasm	A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance.	DOVES_relaxed.owl
MONDO:0007243	biolink:NamedThing	Burkitt lymphoma	Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.	DOVES_relaxed.owl
MONDO:0007650	biolink:NamedThing	MALT lymphoma	An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0018906	biolink:NamedThing	follicular lymphoma	Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.	DOVES_relaxed.owl
MONDO:0019461	biolink:NamedThing	B-cell prolymphocytic leukemia	A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly.	DOVES_relaxed.owl
MONDO:0004351	biolink:NamedThing	intraocular lymphoma	A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters.	DOVES_relaxed.owl
MONDO:0016570	biolink:NamedThing	primary pulmonary lymphoma	Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).	DOVES_relaxed.owl
MONDO:0017205	biolink:NamedThing	primary oculocerebral lymphoma	Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.	DOVES_relaxed.owl
MONDO:0019962	biolink:NamedThing	thyroid lymphoma	A lymphoma primarily involving the thyroid gland.	DOVES_relaxed.owl
MONDO:0017343	biolink:NamedThing	Epstein-Barr virus-associated malignant lymphoproliferative disorder		DOVES_relaxed.owl
MONDO:0018224	biolink:NamedThing	hydroa vacciniforme-like lymphoma	A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin.	DOVES_relaxed.owl
MONDO:0019472	biolink:NamedThing	extranodal nasal NK/T cell lymphoma	Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described.	DOVES_relaxed.owl
MONDO:0002572	biolink:NamedThing	aspiration pneumonitis	Inflammation of the lungs due to the inhalation of solid or liquid material.	DOVES_relaxed.owl
MONDO:0003479	biolink:NamedThing	toxic pneumonitis	A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects.	DOVES_relaxed.owl
MONDO:0006389	biolink:NamedThing	prostate rhabdomyosarcoma	A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate.	DOVES_relaxed.owl
MONDO:0002577	biolink:NamedThing	extrahepatic bile duct rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts.	DOVES_relaxed.owl
MONDO:0003377	biolink:NamedThing	extrahepatic bile duct leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0002580	biolink:NamedThing	orbit rhabdomyosarcoma	A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit.	DOVES_relaxed.owl
MONDO:0002978	biolink:NamedThing	orbit alveolar rhabdomyosarcoma	A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma.	DOVES_relaxed.owl
MONDO:0002581	biolink:NamedThing	spindle cell rhabdomyosarcoma	An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.	DOVES_relaxed.owl
MONDO:0002851	biolink:NamedThing	mediastinum rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum.	DOVES_relaxed.owl
MONDO:0002853	biolink:NamedThing	rectum rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum.	DOVES_relaxed.owl
MONDO:0002856	biolink:NamedThing	gallbladder rhabdomyosarcoma	A rhabdomyosarcoma that is located in the gallbladder.	DOVES_relaxed.owl
MONDO:0002858	biolink:NamedThing	ovary rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries.	DOVES_relaxed.owl
MONDO:0002859	biolink:NamedThing	breast rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast.	DOVES_relaxed.owl
MONDO:0002860	biolink:NamedThing	testis rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis.	DOVES_relaxed.owl
MONDO:0002863	biolink:NamedThing	rhabdomyosarcoma with mixed embryonal and alveolar features	A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma.	DOVES_relaxed.owl
MONDO:0009994	biolink:NamedThing	alveolar rhabdomyosarcoma	A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.	DOVES_relaxed.owl
MONDO:0016095	biolink:NamedThing	vaginal rhabdomyosarcoma	A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina.	DOVES_relaxed.owl
MONDO:0016282	biolink:NamedThing	rhabdomyosarcoma of the cervix uteri	A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix.	DOVES_relaxed.owl
MONDO:0017386	biolink:NamedThing	pleomorphic rhabdomyosarcoma	An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities.	DOVES_relaxed.owl
MONDO:0003466	biolink:NamedThing	spindle cell synovial sarcoma	A synovial sarcoma characterized by the presence of a spindle cell component only.	DOVES_relaxed.owl
MONDO:0003596	biolink:NamedThing	spindle cell liposarcoma	A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma.	DOVES_relaxed.owl
MONDO:0002582	biolink:NamedThing	subacute leukemia	A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.	DOVES_relaxed.owl
MONDO:0018874	biolink:NamedThing	acute myeloid leukemia	Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections.	DOVES_relaxed.owl
MONDO:0700060	biolink:NamedThing	leukemia, acute, X-linked	X-linked form of acute leukemia	DOVES_relaxed.owl
MONDO:0002583	biolink:NamedThing	mucinous ovarian cystadenoma	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells.	DOVES_relaxed.owl
MONDO:0005183	biolink:NamedThing	ovarian cystadenoma	A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells.	DOVES_relaxed.owl
MONDO:0003610	biolink:NamedThing	rete ovarii cystadenoma	An exceptionally rare cystadenoma that arises from the rete ovarii.	DOVES_relaxed.owl
MONDO:0003872	biolink:NamedThing	ovarian papillary cystadenoma	A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts.	DOVES_relaxed.owl
MONDO:0004136	biolink:NamedThing	ovarian endometrioid cystadenoma	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells.	DOVES_relaxed.owl
MONDO:0018523	biolink:NamedThing	pancreatic mucinous cystadenoma	A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass.	DOVES_relaxed.owl
MONDO:0002585	biolink:NamedThing	breast fibrocystic change, proliferative type	Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent.	DOVES_relaxed.owl
MONDO:0003724	biolink:NamedThing	non-proliferative fibrocystic change of the breast	Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia.	DOVES_relaxed.owl
MONDO:0002587	biolink:NamedThing	encapsulated thymoma	A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics.	DOVES_relaxed.owl
MONDO:0006456	biolink:NamedThing	thymoma	A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course.	DOVES_relaxed.owl
MONDO:0002588	biolink:NamedThing	thymoma type A	A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years.	DOVES_relaxed.owl
MONDO:0002590	biolink:NamedThing	combined thymoma		DOVES_relaxed.owl
MONDO:0004147	biolink:NamedThing	noninvasive malignant thymoma	A morphologically malignant thymoma that is entirely confined within the capsule.	DOVES_relaxed.owl
MONDO:0016975	biolink:NamedThing	thymoma type AB	A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years.	DOVES_relaxed.owl
MONDO:0003976	biolink:NamedThing	malignant type AB thymoma	A type AB thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize.	DOVES_relaxed.owl
MONDO:0004297	biolink:NamedThing	lymphoepithelioma-like thymic carcinoma	A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection.	DOVES_relaxed.owl
MONDO:0004475	biolink:NamedThing	thymus clear cell carcinoma	A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm.	DOVES_relaxed.owl
MONDO:0006452	biolink:NamedThing	thymic sarcomatoid carcinoma	A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma.	DOVES_relaxed.owl
MONDO:0006455	biolink:NamedThing	thymic undifferentiated carcinoma	A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features.	DOVES_relaxed.owl
MONDO:0006446	biolink:NamedThing	testicular embryonal carcinoma	A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent.	DOVES_relaxed.owl
MONDO:0016708	biolink:NamedThing	embryonal tumor of neuroepithelial tissue		DOVES_relaxed.owl
MONDO:0017043	biolink:NamedThing	congenital mesoblastic nephroma	A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis.	DOVES_relaxed.owl
MONDO:0018666	biolink:NamedThing	hepatoblastoma	Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy.	DOVES_relaxed.owl
MONDO:0021038	biolink:NamedThing	Ewing sarcoma/peripheral primitive neuroectodermal tumor	A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.	DOVES_relaxed.owl
MONDO:0002598	biolink:NamedThing	germinoma	A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes.	DOVES_relaxed.owl
MONDO:0003001	biolink:NamedThing	seminoma	A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes.	DOVES_relaxed.owl
MONDO:0003002	biolink:NamedThing	dysgerminoma	A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage.	DOVES_relaxed.owl
MONDO:0016289	biolink:NamedThing	malignant germ cell tumor of cervix uteri	A malignant germ cell tumor that involves the uterine cervix.	DOVES_relaxed.owl
MONDO:0018171	biolink:NamedThing	malignant germ cell tumor of ovary	Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.	DOVES_relaxed.owl
MONDO:0020580	biolink:NamedThing	germinomatous germ cell tumor	A term that refers to germinoma, seminoma, or dysgerminoma.	DOVES_relaxed.owl
MONDO:0021656	biolink:NamedThing	nongerminomatous germ cell tumor	A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors.	DOVES_relaxed.owl
MONDO:0016096	biolink:NamedThing	malignant non-dysgerminomatous germ cell tumor of ovary	A malignant germ cell tumor other than dysgerminoma that arises from the ovary.	DOVES_relaxed.owl
MONDO:0020539	biolink:NamedThing	extragonadal non-dysgerminomatous germ cell tumor		DOVES_relaxed.owl
MONDO:0002603	biolink:NamedThing	angiomyolipoma	A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described.	DOVES_relaxed.owl
MONDO:0006842	biolink:NamedThing	lymphangiomyoma	A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum.	DOVES_relaxed.owl
MONDO:0011705	biolink:NamedThing	lymphangioleiomyomatosis	A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites.	DOVES_relaxed.owl
MONDO:0020588	biolink:NamedThing	lung PEComa	A lung tumor that arises from perivascular epithelioid cells (PECs).	DOVES_relaxed.owl
MONDO:0002604	biolink:NamedThing	pericytic neoplasm	A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.	DOVES_relaxed.owl
MONDO:0024469	biolink:NamedThing	chondrogenic neoplasm	A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma.	DOVES_relaxed.owl
MONDO:0045053	biolink:NamedThing	osteogenic neoplasm	A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma.	DOVES_relaxed.owl
MONDO:0002606	biolink:NamedThing	epithelioid type angiomyolipoma	An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia.	DOVES_relaxed.owl
MONDO:0003290	biolink:NamedThing	simple partial epilepsy		DOVES_relaxed.owl
MONDO:0006710	biolink:NamedThing	complex partial epilepsy	A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)	DOVES_relaxed.owl
MONDO:0006891	biolink:NamedThing	partial motor epilepsy	A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles.	DOVES_relaxed.owl
MONDO:0006892	biolink:NamedThing	partial sensory epilepsy	A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial).	DOVES_relaxed.owl
MONDO:0018001	biolink:NamedThing	inverse Klippel-Trenaunay syndrome		DOVES_relaxed.owl
MONDO:0002677	biolink:NamedThing	conventional fibrosarcoma	A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern.	DOVES_relaxed.owl
MONDO:0003720	biolink:NamedThing	kidney fibrosarcoma	A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	DOVES_relaxed.owl
MONDO:0003728	biolink:NamedThing	breast fibrosarcoma	A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	DOVES_relaxed.owl
MONDO:0004028	biolink:NamedThing	small intestinal fibrosarcoma	A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	DOVES_relaxed.owl
MONDO:0006272	biolink:NamedThing	low grade fibromyxoid sarcoma	A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein.	DOVES_relaxed.owl
MONDO:0002620	biolink:NamedThing	localized osteosarcoma	A non-disseminated osteosarcoma.	DOVES_relaxed.owl
MONDO:0002622	biolink:NamedThing	multifocal osteogenic sarcoma	A primary bone osteosarcoma affecting multiple bone sites.	DOVES_relaxed.owl
MONDO:0006271	biolink:NamedThing	low grade central osteosarcoma	A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma.	DOVES_relaxed.owl
MONDO:0002627	biolink:NamedThing	chondroblastic osteosarcoma	An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation.	DOVES_relaxed.owl
MONDO:0002631	biolink:NamedThing	conventional osteosarcoma	A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.	DOVES_relaxed.owl
MONDO:0004301	biolink:NamedThing	fibrosarcomatous osteosarcoma	A conventional osteosarcoma characterized by the presence of spindle shaped cells.	DOVES_relaxed.owl
MONDO:0004306	biolink:NamedThing	childhood intracortical osteosarcoma	A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.	DOVES_relaxed.owl
MONDO:0020660	biolink:NamedThing	osteoblastic osteosarcoma	A conventional osteosarcoma characterized by the predominance of osteoid matrix.	DOVES_relaxed.owl
MONDO:0002628	biolink:NamedThing	peripheral osteosarcoma	A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.	DOVES_relaxed.owl
MONDO:0002632	biolink:NamedThing	metachronous osteosarcoma of the bone	A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites.	DOVES_relaxed.owl
MONDO:0004050	biolink:NamedThing	telangiectatic osteogenic sarcoma	An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma.	DOVES_relaxed.owl
MONDO:0006239	biolink:NamedThing	head and neck paraganglioma	A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas.	DOVES_relaxed.owl
MONDO:0015317	biolink:NamedThing	laryngotracheal angioma		DOVES_relaxed.owl
MONDO:0056820	biolink:NamedThing	nasal cavity and paranasal sinus neoplasm	A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	DOVES_relaxed.owl
MONDO:0003585	biolink:NamedThing	adult liposarcoma	A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.	DOVES_relaxed.owl
MONDO:0003586	biolink:NamedThing	esophagus liposarcoma	A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation.	DOVES_relaxed.owl
MONDO:0003588	biolink:NamedThing	larynx liposarcoma	A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement.	DOVES_relaxed.owl
MONDO:0003589	biolink:NamedThing	liposarcoma of the ovary	A malignant adipose tissue neoplasm of the ovary.	DOVES_relaxed.owl
MONDO:0003590	biolink:NamedThing	fibroblastic liposarcoma	A liposarcoma characterized by the presence of a fibroblastic component.	DOVES_relaxed.owl
MONDO:0003591	biolink:NamedThing	kidney liposarcoma	A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis.	DOVES_relaxed.owl
MONDO:0003593	biolink:NamedThing	breast liposarcoma	A malignant adipose tissue neoplasm of the breast.	DOVES_relaxed.owl
MONDO:0003594	biolink:NamedThing	mixed liposarcoma	A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma.	DOVES_relaxed.owl
MONDO:0003599	biolink:NamedThing	vulvar liposarcoma	A rare malignant adipose tissue neoplasm of the vulva.	DOVES_relaxed.owl
MONDO:0003601	biolink:NamedThing	mediastinum liposarcoma	A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum.	DOVES_relaxed.owl
MONDO:0003602	biolink:NamedThing	intracranial liposarcoma	A malignant adipose tissue neoplasm of the intracranial region.	DOVES_relaxed.owl
MONDO:0005103	biolink:NamedThing	well-differentiated liposarcoma	A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation.	DOVES_relaxed.owl
MONDO:0020561	biolink:NamedThing	myxoid/round cell liposarcoma	Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.	DOVES_relaxed.owl
MONDO:0020562	biolink:NamedThing	pleomorphic liposarcoma	Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma.	DOVES_relaxed.owl
MONDO:0020563	biolink:NamedThing	Dedifferentiated liposarcoma	Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS.	DOVES_relaxed.owl
MONDO:0003964	biolink:NamedThing	myositis ossificans	A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues.	DOVES_relaxed.owl
MONDO:0004881	biolink:NamedThing	myositis fibrosa	A form of myositis that is characterized by the formation of connective tissue within the muscle.	DOVES_relaxed.owl
MONDO:0007827	biolink:NamedThing	inclusion body myositis	A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.	DOVES_relaxed.owl
MONDO:0016126	biolink:NamedThing	viral myositis		DOVES_relaxed.owl
MONDO:0023483	biolink:NamedThing	infectious myositis	An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain.	DOVES_relaxed.owl
MONDO:0600023	biolink:NamedThing	idiopathic inflammatory myopathy	Idiopathic form of inflammatory myopathy.	DOVES_relaxed.owl
MONDO:0002645	biolink:NamedThing	cerebritis	Inflammation of the cerebrum.	DOVES_relaxed.owl
MONDO:0008962	biolink:NamedThing	Griscelli syndrome type 1	A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.	DOVES_relaxed.owl
MONDO:0009974	biolink:NamedThing	familial hemophagocytic lymphohistiocytosis type 1	Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.	DOVES_relaxed.owl
MONDO:0018673	biolink:NamedThing	IgG4-related pachymeningitis	Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment.	DOVES_relaxed.owl
MONDO:0021156	biolink:NamedThing	hypophysitis	Inflammation of the pituitary gland.	DOVES_relaxed.owl
MONDO:0005722	biolink:NamedThing	croup	Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor.	DOVES_relaxed.owl
MONDO:0041366	biolink:NamedThing	acute epiglottitis	Acute form of epiglottitis.	DOVES_relaxed.owl
MONDO:0002652	biolink:NamedThing	anus adenocarcinoma	An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis.	DOVES_relaxed.owl
MONDO:0002734	biolink:NamedThing	anal mucinous adenocarcinoma	An anal adenocarcinoma characterized by the presence of mucoid stroma formation.	DOVES_relaxed.owl
MONDO:0002735	biolink:NamedThing	anal canal adenocarcinoma	An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding.	DOVES_relaxed.owl
MONDO:0004266	biolink:NamedThing	anal gland adenocarcinoma	An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes.	DOVES_relaxed.owl
MONDO:0002748	biolink:NamedThing	rectum mucinous adenocarcinoma	An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.	DOVES_relaxed.owl
MONDO:0006081	biolink:NamedThing	anal melanoma	A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor.	DOVES_relaxed.owl
MONDO:0007108	biolink:NamedThing	anal canal carcinoma	A carcinoma that arises from epithelial cells of the anal canal	DOVES_relaxed.owl
MONDO:0002658	biolink:NamedThing	iris cancer	A malignant neoplasm involving the iris.	DOVES_relaxed.owl
MONDO:0021229	biolink:NamedThing	ciliary body neoplasm	A neoplasm (disease) that involves the ciliary body.	DOVES_relaxed.owl
MONDO:0021485	biolink:NamedThing	benign neoplasm of iris	A benign neoplasm that involves the iris.	DOVES_relaxed.owl
MONDO:0002664	biolink:NamedThing	extrahepatic bile duct signet ring cell carcinoma	An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells.	DOVES_relaxed.owl
MONDO:0002665	biolink:NamedThing	extrahepatic bile duct adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct	DOVES_relaxed.owl
MONDO:0002670	biolink:NamedThing	ampulla of vater adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla	DOVES_relaxed.owl
MONDO:0002739	biolink:NamedThing	extrahepatic bile duct mucinous adenocarcinoma	An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.	DOVES_relaxed.owl
MONDO:0003708	biolink:NamedThing	extrahepatic bile duct small cell adenocarcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells.	DOVES_relaxed.owl
MONDO:0004039	biolink:NamedThing	papillary extrahepatic bile duct adenocarcinoma		DOVES_relaxed.owl
MONDO:0004081	biolink:NamedThing	extrahepatic bile duct clear cell adenocarcinoma	A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells.	DOVES_relaxed.owl
MONDO:0002666	biolink:NamedThing	pancreatic signet ring cell adenocarcinoma	A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern.	DOVES_relaxed.owl
MONDO:0002667	biolink:NamedThing	gallbladder signet ring cell adenocarcinoma	An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells.	DOVES_relaxed.owl
MONDO:0002672	biolink:NamedThing	acinar prostate adenocarcinoma, signet ring variant	A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells.	DOVES_relaxed.owl
MONDO:0003768	biolink:NamedThing	signet ring cell variant cervical mucinous adenocarcinoma	A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells.	DOVES_relaxed.owl
MONDO:0003891	biolink:NamedThing	bladder signet ring cell adenocarcinoma	A signet ring cell carcinoma that involves the urinary bladder.	DOVES_relaxed.owl
MONDO:0004346	biolink:NamedThing	signet ring cell intrahepatic cholangiocarcinoma	An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells.	DOVES_relaxed.owl
MONDO:0004829	biolink:NamedThing	Krukenberg carcinoma	Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast.	DOVES_relaxed.owl
MONDO:0003707	biolink:NamedThing	distal biliary tract carcinoma	A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct.	DOVES_relaxed.owl
MONDO:0006203	biolink:NamedThing	extrahepatic bile duct squamous cell carcinoma	A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells.	DOVES_relaxed.owl
MONDO:0017590	biolink:NamedThing	carcinoma of the ampulla of vater	A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.	DOVES_relaxed.owl
MONDO:0021299	biolink:NamedThing	carcinoma in situ of extrahepatic bile duct	A in situ carcinoma that involves the extrahepatic bile duct.	DOVES_relaxed.owl
MONDO:0005184	biolink:NamedThing	pancreatic ductal adenocarcinoma	An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor.	DOVES_relaxed.owl
MONDO:0004287	biolink:NamedThing	pancreatic foamy gland adenocarcinoma	A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm.	DOVES_relaxed.owl
MONDO:0004340	biolink:NamedThing	mixed ductal-endocrine carcinoma of pancreas	A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites.	DOVES_relaxed.owl
MONDO:0004341	biolink:NamedThing	colloid carcinoma of the pancreas	An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei.	DOVES_relaxed.owl
MONDO:0006478	biolink:NamedThing	undifferentiated pancreatic carcinoma	A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells.	DOVES_relaxed.owl
MONDO:0004067	biolink:NamedThing	gallbladder mucinous adenocarcinoma	An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.	DOVES_relaxed.owl
MONDO:0004148	biolink:NamedThing	gallbladder papillary neoplasm with an associated invasive carcinoma	An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma.	DOVES_relaxed.owl
MONDO:0004149	biolink:NamedThing	gallbladder pleomorphic giant cell adenocarcinoma		DOVES_relaxed.owl
MONDO:0002669	biolink:NamedThing	ampullary signet ring cell adenocarcinoma	An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells.	DOVES_relaxed.owl
MONDO:0002736	biolink:NamedThing	ampulla of vater mucinous adenocarcinoma	A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation.	DOVES_relaxed.owl
MONDO:0003388	biolink:NamedThing	ampulla of vater clear cell adenocarcinoma	A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei.	DOVES_relaxed.owl
MONDO:0004465	biolink:NamedThing	periampullary adenocarcinoma	An adenocarcinoma that arises from the periampullary region.	DOVES_relaxed.owl
MONDO:0003490	biolink:NamedThing	ampulla of vater squamous cell carcinoma	A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.	DOVES_relaxed.owl
MONDO:0004117	biolink:NamedThing	ampulla of vater small cell neuroendocrine carcinoma	An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.	DOVES_relaxed.owl
MONDO:0003959	biolink:NamedThing	breast large cell neuroendocrine carcinoma	A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity.	DOVES_relaxed.owl
MONDO:0004953	biolink:NamedThing	invasive ductal breast carcinoma	The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both.	DOVES_relaxed.owl
MONDO:0005051	biolink:NamedThing	invasive lobular breast carcinoma	An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures.	DOVES_relaxed.owl
MONDO:0006043	biolink:NamedThing	metaplastic breast carcinoma	A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells.	DOVES_relaxed.owl
MONDO:0004164	biolink:NamedThing	lymphoepithelioma-like acinar prostate adenocarcinoma	A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates.	DOVES_relaxed.owl
MONDO:0006066	biolink:NamedThing	acinar prostate adenocarcinoma, foamy gland variant	A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm.	DOVES_relaxed.owl
MONDO:0006067	biolink:NamedThing	acinar prostate mucinous adenocarcinoma	A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin.	DOVES_relaxed.owl
MONDO:0002676	biolink:NamedThing	adult fibrosarcoma	A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones.	DOVES_relaxed.owl
MONDO:0004557	biolink:NamedThing	congenital fibrosarcoma	A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes.	DOVES_relaxed.owl
MONDO:0002679	biolink:NamedThing	cerebral infarction	An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries.	DOVES_relaxed.owl
MONDO:0005426	biolink:NamedThing	MRI defined brain infarct	An infarct detected by MRI and not determined to be clinically significant	DOVES_relaxed.owl
MONDO:0006686	biolink:NamedThing	brain stem infarction	Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.	DOVES_relaxed.owl
MONDO:0006639	biolink:NamedThing	adrenal cortex carcinoma	A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival.	DOVES_relaxed.owl
MONDO:0015523	biolink:NamedThing	epithelioid hemangioendothelioma	A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.	DOVES_relaxed.owl
MONDO:0040676	biolink:NamedThing	great vessel cancer	A malignant neoplasm arising from the great vessels.	DOVES_relaxed.owl
MONDO:0002772	biolink:NamedThing	intraventricular meningioma	A meningioma that affects the ventricles of the brain.	DOVES_relaxed.owl
MONDO:0019134	biolink:NamedThing	central neurocytoma	Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.	DOVES_relaxed.owl
MONDO:0002683	biolink:NamedThing	adult choroid plexus neoplasm	A choroid plexus neoplasm that occurs in an adult.	DOVES_relaxed.owl
MONDO:0002684	biolink:NamedThing	atypical choroid plexus papilloma	A choroid plexus papilloma characterized by increased mitotic activity.	DOVES_relaxed.owl
MONDO:0002786	biolink:NamedThing	diencephalic cancer	A cancer involving a diencephalon.	DOVES_relaxed.owl
MONDO:0003145	biolink:NamedThing	supratentorial primitive neuroectodermal tumor	A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region.	DOVES_relaxed.owl
MONDO:0006735	biolink:NamedThing	duodenogastric reflux	Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach.	DOVES_relaxed.owl
MONDO:0004567	biolink:NamedThing	ileus	Decrease in peristalsis in the absence of a mechanical bowel obstruction.	DOVES_relaxed.owl
MONDO:0004570	biolink:NamedThing	intestinal volvulus	Twisting of a loop of bowel that results in intestinal obstruction.	DOVES_relaxed.owl
MONDO:0004571	biolink:NamedThing	intestinal impaction		DOVES_relaxed.owl
MONDO:0002692	biolink:NamedThing	intracranial sinus thrombosis	Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects.	DOVES_relaxed.owl
MONDO:0002693	biolink:NamedThing	lateral sinus thrombosis	Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure.	DOVES_relaxed.owl
MONDO:0002694	biolink:NamedThing	cavernous sinus thrombosis	Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)	DOVES_relaxed.owl
MONDO:0002695	biolink:NamedThing	sagittal sinus thrombosis	Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma.	DOVES_relaxed.owl
MONDO:0037252	biolink:NamedThing	thecoma	An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported.	DOVES_relaxed.owl
MONDO:0700036	biolink:NamedThing	fibrothecoma	A sex cord-stromal tumor characterized by mixed features of both fibroma and thecoma.	DOVES_relaxed.owl
MONDO:0002697	biolink:NamedThing	ovarian gonadoblastoma	A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites.	DOVES_relaxed.owl
MONDO:0018172	biolink:NamedThing	malignant sex cord stromal tumor of ovary	Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis.	DOVES_relaxed.owl
MONDO:0020542	biolink:NamedThing	malignant Sertoli-Leydig cell tumor of ovary	Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional.	DOVES_relaxed.owl
MONDO:0020543	biolink:NamedThing	theca steroid-producing cell malignant tumor of ovary, not further specified	Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome.	DOVES_relaxed.owl
MONDO:0002701	biolink:NamedThing	ovarian mucinous cystadenocarcinoma	An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis.	DOVES_relaxed.owl
MONDO:0002702	biolink:NamedThing	ovarian cystadenocarcinoma	An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma.	DOVES_relaxed.owl
MONDO:0004222	biolink:NamedThing	ovarian clear cell cystadenocarcinoma	A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures.	DOVES_relaxed.owl
MONDO:0005601	biolink:NamedThing	ovarian mucinous adenocarcinoma	An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations.	DOVES_relaxed.owl
MONDO:0005858	biolink:NamedThing	mucinous cystadenocarcinoma	An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.	DOVES_relaxed.owl
MONDO:0002703	biolink:NamedThing	appendix mucinous cystadenocarcinoma	An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures.	DOVES_relaxed.owl
MONDO:0004156	biolink:NamedThing	pancreatic mucinous cystadenocarcinoma	A mucinous cystadenocarcinoma that involves the pancreas.	DOVES_relaxed.owl
MONDO:0003191	biolink:NamedThing	rete ovarii adenocarcinoma	An exceptionally rare adenocarcinoma that arises from the rete ovarii.	DOVES_relaxed.owl
MONDO:0005211	biolink:NamedThing	ovarian serous adenocarcinoma	An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia.	DOVES_relaxed.owl
MONDO:0006045	biolink:NamedThing	ovarian clear cell adenocarcinoma	A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia.	DOVES_relaxed.owl
MONDO:0006335	biolink:NamedThing	ovarian endometrioid adenocarcinoma	An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma.	DOVES_relaxed.owl
MONDO:0002867	biolink:NamedThing	pancreatic cystadenocarcinoma	A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes.	DOVES_relaxed.owl
MONDO:0018535	biolink:NamedThing	biliary cystadenocarcinoma	A cystadenocarcinoma that involves the biliary tree.	DOVES_relaxed.owl
MONDO:0018330	biolink:NamedThing	mucinous adenocarcinoma of the appendix	Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.	DOVES_relaxed.owl
MONDO:0017048	biolink:NamedThing	pseudomyxoma peritonei	Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.	DOVES_relaxed.owl
MONDO:0002707	biolink:NamedThing	breast mucinous carcinoma	An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis.	DOVES_relaxed.owl
MONDO:0003208	biolink:NamedThing	breast secretory carcinoma	A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas.	DOVES_relaxed.owl
MONDO:0003390	biolink:NamedThing	glycogen-rich clear cell breast carcinoma	An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen.	DOVES_relaxed.owl
MONDO:0003936	biolink:NamedThing	invasive tubular breast carcinoma	An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium.	DOVES_relaxed.owl
MONDO:0004288	biolink:NamedThing	scirrhous breast carcinoma	An infiltrating ductal breast carcinoma associated with stromal fibrosis.	DOVES_relaxed.owl
MONDO:0004984	biolink:NamedThing	basal-like breast carcinoma	A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis.	DOVES_relaxed.owl
MONDO:0005050	biolink:NamedThing	invasive ductal and lobular carcinoma	An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive.	DOVES_relaxed.owl
MONDO:0005063	biolink:NamedThing	medullary breast carcinoma	An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent.	DOVES_relaxed.owl
MONDO:0006050	biolink:NamedThing	pleomorphic breast carcinoma	A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate.	DOVES_relaxed.owl
MONDO:0002744	biolink:NamedThing	fallopian tube mucinous adenocarcinoma	An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas.	DOVES_relaxed.owl
MONDO:0002747	biolink:NamedThing	endometrial mucinous adenocarcinoma	A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin.	DOVES_relaxed.owl
MONDO:0002710	biolink:NamedThing	infiltrating angiolipoma	An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue.	DOVES_relaxed.owl
MONDO:0002712	biolink:NamedThing	epidural spinal canal angiolipoma	An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal.	DOVES_relaxed.owl
MONDO:0003545	biolink:NamedThing	intradural extramedullary spinal canal neoplasm	A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression.	DOVES_relaxed.owl
MONDO:0003731	biolink:NamedThing	adult central nervous system teratoma	A mature or immature teratoma affecting the central nervous system and occurring in adults.	DOVES_relaxed.owl
MONDO:0003733	biolink:NamedThing	central nervous system mature teratoma	A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0003735	biolink:NamedThing	central nervous system immature teratoma	A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0004015	biolink:NamedThing	pineal region teratoma	A mature or immature teratoma that arises in the pineal region.	DOVES_relaxed.owl
MONDO:0004216	biolink:NamedThing	pineal region germinoma	A germinoma that arises from the pineal gland.	DOVES_relaxed.owl
MONDO:0019500	biolink:NamedThing	extragonadal teratoma	Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor.	DOVES_relaxed.owl
MONDO:0002720	biolink:NamedThing	sella turcica neoplasm	A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma.	DOVES_relaxed.owl
MONDO:0004201	biolink:NamedThing	pituitary hypoplasia	Incomplete development of the pituitary gland.	DOVES_relaxed.owl
MONDO:0005152	biolink:NamedThing	hypopituitarism	A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.	DOVES_relaxed.owl
MONDO:0006802	biolink:NamedThing	inappropriate ADH syndrome	A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body.	DOVES_relaxed.owl
MONDO:0024468	biolink:NamedThing	anterior pituitary gland disorder	A disease that involves the adenohypophysis.	DOVES_relaxed.owl
MONDO:0002724	biolink:NamedThing	mast cell neoplasm	A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0005170	biolink:NamedThing	myeloid neoplasm	Proliferation of myeloid cells originating from a primitive stem cell.	DOVES_relaxed.owl
MONDO:0002726	biolink:NamedThing	cutaneous solitary mastocytoma	A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology.	DOVES_relaxed.owl
MONDO:0003079	biolink:NamedThing	mastocytoma	A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung.	DOVES_relaxed.owl
MONDO:0003721	biolink:NamedThing	kidney osteogenic sarcoma	An osteosarcoma arising from the kidney.	DOVES_relaxed.owl
MONDO:0005006	biolink:NamedThing	clear cell sarcoma of kidney	A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue.	DOVES_relaxed.owl
MONDO:0003639	biolink:NamedThing	lung hilum neoplasm	A benign or malignant neoplasm that arises from the hilar region of the lung.	DOVES_relaxed.owl
MONDO:0017036	biolink:NamedThing	Langerhans cell histiocytosis in childhood and adulthood		DOVES_relaxed.owl
MONDO:0021531	biolink:NamedThing	fibroma of lung	A fibroma that involves the lung.	DOVES_relaxed.owl
MONDO:0021540	biolink:NamedThing	hamartoma of lung	A hamartoma (disease) that involves the lung.	DOVES_relaxed.owl
MONDO:0024813	biolink:NamedThing	pulmonary sulcus neoplasm	A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.	DOVES_relaxed.owl
MONDO:0037105	biolink:NamedThing	lung germ cell tumor	A germ cell tumor that arises from the lung.	DOVES_relaxed.owl
MONDO:0004129	biolink:NamedThing	cloacogenic carcinoma	An anal carcinoma arising from the transitional zone of the anal canal.	DOVES_relaxed.owl
MONDO:0004707	biolink:NamedThing	anal canal carcinoma in situ	A carcinoma in situ involving a anal canal.	DOVES_relaxed.owl
MONDO:0004078	biolink:NamedThing	mucinous intrahepatic cholangiocarcinoma	An intrahepatic cholangiocarcinoma that produces abundant mucin.	DOVES_relaxed.owl
MONDO:0002740	biolink:NamedThing	uterine ligament mucinous adenocarcinoma	A rare mucinous adenocarcinoma that arises from the uterine ligament.	DOVES_relaxed.owl
MONDO:0003384	biolink:NamedThing	uterine ligament clear cell adenocarcinoma	A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated.	DOVES_relaxed.owl
MONDO:0003626	biolink:NamedThing	uterine ligament serous adenocarcinoma	A rare serous adenocarcinoma that arises from the uterine ligament.	DOVES_relaxed.owl
MONDO:0003663	biolink:NamedThing	uterine ligament endometrioid adenocarcinoma	A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis.	DOVES_relaxed.owl
MONDO:0004537	biolink:NamedThing	intestinal variant cervical mucinous adenocarcinoma	A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma.	DOVES_relaxed.owl
MONDO:0004538	biolink:NamedThing	endocervical type cervical mucinous adenocarcinoma	A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix.	DOVES_relaxed.owl
MONDO:0006140	biolink:NamedThing	cervical mucinous adenocarcinoma, minimal deviation variant	A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands.	DOVES_relaxed.owl
MONDO:0006141	biolink:NamedThing	cervical villoglandular adenocarcinoma	A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern.	DOVES_relaxed.owl
MONDO:0200000	biolink:NamedThing	uterine ligament adenosarcoma	An extremely rare adenosarcoma that arises from the uterine ligament.	DOVES_relaxed.owl
MONDO:0003383	biolink:NamedThing	fallopian tube clear cell adenocarcinoma	A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells.	DOVES_relaxed.owl
MONDO:0003535	biolink:NamedThing	fallopian tube papillary adenocarcinoma	An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern.	DOVES_relaxed.owl
MONDO:0003666	biolink:NamedThing	fallopian tube endometrioid adenocarcinoma	An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis.	DOVES_relaxed.owl
MONDO:0006208	biolink:NamedThing	fallopian tube serous adenocarcinoma	A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma.	DOVES_relaxed.owl
MONDO:0002833	biolink:NamedThing	fallopian tube transitional cell carcinoma	A rare transitional cell carcinoma that arises from the fallopian tube.	DOVES_relaxed.owl
MONDO:0004489	biolink:NamedThing	fallopian tube gestational choriocarcinoma	A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy.	DOVES_relaxed.owl
MONDO:0006207	biolink:NamedThing	fallopian tube carcinosarcoma	A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor.	DOVES_relaxed.owl
MONDO:0003991	biolink:NamedThing	villoglandular endometrial endometrioid adenocarcinoma	A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells.	DOVES_relaxed.owl
MONDO:0004019	biolink:NamedThing	oxyphilic endometrial endometrioid adenocarcinoma	A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells.	DOVES_relaxed.owl
MONDO:0004174	biolink:NamedThing	secretory uterine corpus endometrioid adenocarcinoma	An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium.	DOVES_relaxed.owl
MONDO:0004175	biolink:NamedThing	mucin-rich endometrial endometrioid adenocarcinoma		DOVES_relaxed.owl
MONDO:0004220	biolink:NamedThing	endometrial endometrioid adenocarcinoma with spindled epithelial cells	A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells.	DOVES_relaxed.owl
MONDO:0004321	biolink:NamedThing	endometrial mixed adenocarcinoma	An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor.	DOVES_relaxed.owl
MONDO:0006191	biolink:NamedThing	endometrial clear cell adenocarcinoma	A clear cell adenocarcinoma that involves the endometrium.	DOVES_relaxed.owl
MONDO:0002750	biolink:NamedThing	bladder colloid adenocarcinoma		DOVES_relaxed.owl
MONDO:0003386	biolink:NamedThing	bladder clear cell adenocarcinoma	A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria.	DOVES_relaxed.owl
MONDO:0003938	biolink:NamedThing	bladder colonic type adenocarcinoma		DOVES_relaxed.owl
MONDO:0004331	biolink:NamedThing	bladder urachal adenocarcinoma	A adenocarcinoma that involves the urachus.	DOVES_relaxed.owl
MONDO:0004458	biolink:NamedThing	bladder mixed adenocarcinoma		DOVES_relaxed.owl
MONDO:0004459	biolink:NamedThing	bladder hepatoid adenocarcinoma	A hepatoid adenocarcinoma that involves the urinary bladder.	DOVES_relaxed.owl
MONDO:0003715	biolink:NamedThing	bladder urachal carcinoma	Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer.	DOVES_relaxed.owl
MONDO:0004114	biolink:NamedThing	urinary bladder small cell neuroendocrine carcinoma	A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ.	DOVES_relaxed.owl
MONDO:0004182	biolink:NamedThing	stage IVb bladder cancer	Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis.	DOVES_relaxed.owl
MONDO:0004200	biolink:NamedThing	superficial urinary bladder carcinoma	A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade.	DOVES_relaxed.owl
MONDO:0005611	biolink:NamedThing	bladder transitional cell carcinoma	The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.	DOVES_relaxed.owl
MONDO:0022578	biolink:NamedThing	childhood bladder carcinoma	A rare carcinoma of the bladder that occurs during childhood.	DOVES_relaxed.owl
MONDO:0003792	biolink:NamedThing	ovarian carcinosarcoma	A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements.	DOVES_relaxed.owl
MONDO:0004031	biolink:NamedThing	ovary mixed epithelial carcinoma		DOVES_relaxed.owl
MONDO:0006343	biolink:NamedThing	ovarian transitional cell carcinoma	A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present.	DOVES_relaxed.owl
MONDO:0006477	biolink:NamedThing	undifferentiated ovarian carcinoma	An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor.	DOVES_relaxed.owl
MONDO:0100514	biolink:NamedThing	familial ovarian carcinoma	Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma.	DOVES_relaxed.owl
MONDO:0002754	biolink:NamedThing	extramedullary plasmacytoma	A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients.	DOVES_relaxed.owl
MONDO:0005615	biolink:NamedThing	plasmacytoma	Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.	DOVES_relaxed.owl
MONDO:0002755	biolink:NamedThing	solitary osseous plasmacytoma	A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion.	DOVES_relaxed.owl
MONDO:0015042	biolink:NamedThing	primary plasmacytoma of the bone		DOVES_relaxed.owl
MONDO:0015043	biolink:NamedThing	extramedullary soft tissue plasmacytoma		DOVES_relaxed.owl
MONDO:0002757	biolink:NamedThing	acute allergic sanguinous otitis media	A acute sanguinous otitis media caused by an allergen.	DOVES_relaxed.owl
MONDO:0002758	biolink:NamedThing	vulva verrucous carcinoma	A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border.	DOVES_relaxed.owl
MONDO:0006006	biolink:NamedThing	verrucous carcinoma	A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot.	DOVES_relaxed.owl
MONDO:0002759	biolink:NamedThing	bladder verrucous carcinoma	A verrucous carcinoma that involves the urinary bladder.	DOVES_relaxed.owl
MONDO:0002761	biolink:NamedThing	cervical verrucous carcinoma	A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present.	DOVES_relaxed.owl
MONDO:0002762	biolink:NamedThing	esophagus verrucous carcinoma	A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO)	DOVES_relaxed.owl
MONDO:0002763	biolink:NamedThing	urethral verrucous carcinoma	A verrucous carcinoma that involves the urethra.	DOVES_relaxed.owl
MONDO:0002766	biolink:NamedThing	larynx verrucous carcinoma	A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction.	DOVES_relaxed.owl
MONDO:0003698	biolink:NamedThing	penis verrucous carcinoma	A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present.	DOVES_relaxed.owl
MONDO:0002955	biolink:NamedThing	vulva basal cell carcinoma	A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis.	DOVES_relaxed.owl
MONDO:0004053	biolink:NamedThing	bartholin gland squamous cell carcinoma	A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells.	DOVES_relaxed.owl
MONDO:0004090	biolink:NamedThing	vulvar basaloid squamous cell carcinoma	A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm.	DOVES_relaxed.owl
MONDO:0004199	biolink:NamedThing	vulvar keratinizing squamous cell carcinoma	A squamous cell carcinoma that arises from the vulva and is characterized by the presence of keratin pearls.	DOVES_relaxed.owl
MONDO:0004212	biolink:NamedThing	vulvar keratoacanthoma-like carcinoma	A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor.	DOVES_relaxed.owl
MONDO:0004213	biolink:NamedThing	vulvar non-keratinizing squamous cell carcinoma	A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls.	DOVES_relaxed.owl
MONDO:0003714	biolink:NamedThing	bladder urachal squamous cell carcinoma		DOVES_relaxed.owl
MONDO:0004088	biolink:NamedThing	cervical basaloid carcinoma	An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm.	DOVES_relaxed.owl
MONDO:0004239	biolink:NamedThing	cervical keratinizing squamous cell carcinoma	A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present.	DOVES_relaxed.owl
MONDO:0004296	biolink:NamedThing	cervical lymphoepithelioma-like carcinoma	A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate.	DOVES_relaxed.owl
MONDO:0004413	biolink:NamedThing	cervical non-keratinizing squamous cell carcinoma	A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent.	DOVES_relaxed.owl
MONDO:0004552	biolink:NamedThing	microinvasive cervical squamous cell carcinoma	A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low.	DOVES_relaxed.owl
MONDO:0016287	biolink:NamedThing	adenoid basal carcinoma of the cervix uteri	A skin adenoid basal cell carcinoma that involves the uterine cervix.	DOVES_relaxed.owl
MONDO:0003550	biolink:NamedThing	esophageal adenosquamous carcinoma	An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components.	DOVES_relaxed.owl
MONDO:0004093	biolink:NamedThing	esophageal basaloid carcinoma	A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)	DOVES_relaxed.owl
MONDO:0018481	biolink:NamedThing	undifferentiated carcinoma of esophagus	An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation.	DOVES_relaxed.owl
MONDO:0002836	biolink:NamedThing	urethra transitional cell carcinoma	A transitional cell carcinoma that arises from the male or female urethra.	DOVES_relaxed.owl
MONDO:0003975	biolink:NamedThing	Littre gland carcinoma	A carcinoma involving a male urethral gland.	DOVES_relaxed.owl
MONDO:0004080	biolink:NamedThing	glottis squamous cell carcinoma	A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom.	DOVES_relaxed.owl
MONDO:0004291	biolink:NamedThing	subglottis squamous cell carcinoma	A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland.	DOVES_relaxed.owl
MONDO:0004293	biolink:NamedThing	supraglottis squamous cell carcinoma	A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue.	DOVES_relaxed.owl
MONDO:0002769	biolink:NamedThing	leukorrhea	Whitish or yellowish mucosal vaginal discharge.	DOVES_relaxed.owl
MONDO:0015265	biolink:NamedThing	bronchiolitis obliterans syndrome	A lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.	DOVES_relaxed.owl
MONDO:0017014	biolink:NamedThing	interstitial lung disease specific to childhood	A interstitial lung disease that occurs during childhood.	DOVES_relaxed.owl
MONDO:0017018	biolink:NamedThing	isolated pulmonary capillaritis	Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative.	DOVES_relaxed.owl
MONDO:0017030	biolink:NamedThing	interstitial lung disease in childhood and adulthood		DOVES_relaxed.owl
MONDO:0003261	biolink:NamedThing	papillary meningioma of the cerebellum	A papillary meningioma that affects the cerebellum.	DOVES_relaxed.owl
MONDO:0004046	biolink:NamedThing	childhood brain meningioma	A brain meningioma that occurs during childhood.	DOVES_relaxed.owl
MONDO:0004440	biolink:NamedThing	pineal region meningioma	A meningioma that affects the pineal gland.	DOVES_relaxed.owl
MONDO:0004446	biolink:NamedThing	olfactory groove meningioma	A meningioma that affects the olfactory sulcus.	DOVES_relaxed.owl
MONDO:0004447	biolink:NamedThing	pituitary stalk meningioma	A meningioma that affects the pituitary stalk.	DOVES_relaxed.owl
MONDO:0024648	biolink:NamedThing	optic tract meningioma	A meningioma that affects the visual pathway.	DOVES_relaxed.owl
MONDO:0016746	biolink:NamedThing	meningeal melanocytoma	A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative.	DOVES_relaxed.owl
MONDO:0020635	biolink:NamedThing	anaplastic meningioma	A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields).	DOVES_relaxed.owl
MONDO:0002779	biolink:NamedThing	central nervous system chondroma	An extraskeletal chondroma usually arising from the dura.	DOVES_relaxed.owl
MONDO:0021527	biolink:NamedThing	benign neoplasm of meninges	A benign neoplasm that involves the meningeal cluster.	DOVES_relaxed.owl
MONDO:0002787	biolink:NamedThing	adamantinous craniopharyngioma	A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0002788	biolink:NamedThing	papillary craniopharyngioma	A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0002789	biolink:NamedThing	hemangiopericytic tumor	A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern.	DOVES_relaxed.owl
MONDO:0017349	biolink:NamedThing	myopericytoma	A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course.	DOVES_relaxed.owl
MONDO:0100063	biolink:NamedThing	Pericytoma with t(7;12)	A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation.	DOVES_relaxed.owl
MONDO:0010108	biolink:NamedThing	testicular germ cell tumor	A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.	DOVES_relaxed.owl
MONDO:0003260	biolink:NamedThing	adult cerebellar neoplasm	A cerebellar neoplasm that occurs in an adult.	DOVES_relaxed.owl
MONDO:0002795	biolink:NamedThing	adult central nervous system primitive neuroectodermal neoplasm	A central nervous system embryonal tumor, not otherwise specified that occurs in adults.	DOVES_relaxed.owl
MONDO:0016715	biolink:NamedThing	ependymoblastoma	Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.	DOVES_relaxed.owl
MONDO:0003263	biolink:NamedThing	childhood cerebellar neoplasm	A neoplasm that affects the cerebellum and occurs during childhood.	DOVES_relaxed.owl
MONDO:0003842	biolink:NamedThing	childhood cerebellar astrocytic neoplasm	Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood.	DOVES_relaxed.owl
MONDO:0002801	biolink:NamedThing	colonic pseudo-obstruction	Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome.	DOVES_relaxed.owl
MONDO:0002803	biolink:NamedThing	intestinal pseudo-obstruction	Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate.	DOVES_relaxed.owl
MONDO:0017574	biolink:NamedThing	chronic intestinal pseudoobstruction	Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.	DOVES_relaxed.owl
MONDO:0004568	biolink:NamedThing	paralytic ileus	An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction.	DOVES_relaxed.owl
MONDO:0054868	biolink:NamedThing	meconium ileus	Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine.	DOVES_relaxed.owl
MONDO:0002804	biolink:NamedThing	apocrine adenoma	A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma.	DOVES_relaxed.owl
MONDO:0003215	biolink:NamedThing	apocrine sweat gland cancer	A malignant neoplasm involving the apocrine sweat gland.	DOVES_relaxed.owl
MONDO:0019392	biolink:NamedThing	syringocystadenoma papilliferum	A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative.	DOVES_relaxed.owl
MONDO:0002811	biolink:NamedThing	main bronchus cancer	A malignant neoplasm involving the main bronchus.	DOVES_relaxed.owl
MONDO:0004295	biolink:NamedThing	asbestos-related lung carcinoma	A carcinoma arising in the lung due to exposure to asbestos.	DOVES_relaxed.owl
MONDO:0004499	biolink:NamedThing	lung hilum carcinoma	A lung carcinoma arising from the hilum of the lung.	DOVES_relaxed.owl
MONDO:0005233	biolink:NamedThing	non-small cell lung carcinoma	A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy.	DOVES_relaxed.owl
MONDO:0006276	biolink:NamedThing	lung inflammatory myofibroblastic tumor	An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.	DOVES_relaxed.owl
MONDO:0008433	biolink:NamedThing	small cell lung carcinoma	Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.	DOVES_relaxed.owl
MONDO:0020697	biolink:NamedThing	lung epithelial-myoepithelial carcinoma	A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative.	DOVES_relaxed.owl
MONDO:0003781	biolink:NamedThing	bronchitis	An acute or chronic inflammatory process affecting the bronchi.	DOVES_relaxed.owl
MONDO:0011490	biolink:NamedThing	diffuse panbronchiolitis	Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis	DOVES_relaxed.owl
MONDO:0002808	biolink:NamedThing	pancreatic serous cystadenoma	A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss.	DOVES_relaxed.owl
MONDO:0005177	biolink:NamedThing	serous cystadenoma	A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion.	DOVES_relaxed.owl
MONDO:0003420	biolink:NamedThing	bile duct cystadenoma	An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid.	DOVES_relaxed.owl
MONDO:0021091	biolink:NamedThing	papillary cystadenoma	A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures.	DOVES_relaxed.owl
MONDO:0006097	biolink:NamedThing	atypical lipomatous tumor	An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes.	DOVES_relaxed.owl
MONDO:0002814	biolink:NamedThing	adrenal carcinoma	A carcinoma involving a adrenal gland.	DOVES_relaxed.owl
MONDO:0003606	biolink:NamedThing	adrenal medulla cancer	A malignant neoplasm involving the adrenal medulla	DOVES_relaxed.owl
MONDO:0021312	biolink:NamedThing	malignant tumor of adrenal cortex	A cancer that involves the adrenal cortex.	DOVES_relaxed.owl
MONDO:0008192	biolink:NamedThing	paragangliomas 1	Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene.	DOVES_relaxed.owl
MONDO:0009050	biolink:NamedThing	Cushing disease due to pituitary adenoma	Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland.	DOVES_relaxed.owl
MONDO:0011544	biolink:NamedThing	paragangliomas 3	Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene.	DOVES_relaxed.owl
MONDO:0019615	biolink:NamedThing	pituitary dermoid and epidermoid cysts		DOVES_relaxed.owl
MONDO:0021237	biolink:NamedThing	adrenal medulla neoplasm	A neoplasm (disease) that involves the adrenal medulla.	DOVES_relaxed.owl
MONDO:0035540	biolink:NamedThing	pheochromocytoma-paraganglioma	A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications.	DOVES_relaxed.owl
MONDO:0002821	biolink:NamedThing	trabecular follicular adenocarcinoma		DOVES_relaxed.owl
MONDO:0005034	biolink:NamedThing	thyroid gland follicular carcinoma	A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy.	DOVES_relaxed.owl
MONDO:0006886	biolink:NamedThing	thyroid gland papillary and follicular carcinoma	A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)	DOVES_relaxed.owl
MONDO:0008566	biolink:NamedThing	thyroid cancer, nonmedullary, 2		DOVES_relaxed.owl
MONDO:0011836	biolink:NamedThing	thyroid Hurthle cell carcinoma		DOVES_relaxed.owl
MONDO:0014681	biolink:NamedThing	thyroid cancer, nonmedullary, 4	Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene.	DOVES_relaxed.owl
MONDO:0014682	biolink:NamedThing	thyroid cancer, nonmedullary, 5	Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene.	DOVES_relaxed.owl
MONDO:0002828	biolink:NamedThing	Bartholin gland transitional cell carcinoma	A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells.	DOVES_relaxed.owl
MONDO:0004120	biolink:NamedThing	Bartholin gland small cell carcinoma	A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity.	DOVES_relaxed.owl
MONDO:0002837	biolink:NamedThing	sarcomatoid transitional cell carcinoma	A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features.	DOVES_relaxed.owl
MONDO:0006098	biolink:NamedThing	atypical lobular breast hyperplasia	Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast.	DOVES_relaxed.owl
MONDO:0006119	biolink:NamedThing	breast mucosa-associated lymphoid tissue lymphoma	An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor.	DOVES_relaxed.owl
MONDO:0006834	biolink:NamedThing	lip cancer	A primary or metastatic malignant neoplasm involving the lip.	DOVES_relaxed.owl
MONDO:0002831	biolink:NamedThing	non-keratinizing sinonasal squamous cell carcinoma	A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization.	DOVES_relaxed.owl
MONDO:0016211	biolink:NamedThing	non-papillary transitional cell carcinoma of the bladder		DOVES_relaxed.owl
MONDO:0020654	biolink:NamedThing	renal pelvis/ureter urothelial carcinoma	A transitional cell carcinoma that arises from the renal pelvis and ureter.	DOVES_relaxed.owl
MONDO:0003012	biolink:NamedThing	sarcomatoid renal cell carcinoma	A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade.	DOVES_relaxed.owl
MONDO:0003573	biolink:NamedThing	pleomorphic carcinoma	A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism.	DOVES_relaxed.owl
MONDO:0006279	biolink:NamedThing	lung sarcomatoid carcinoma	A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor.	DOVES_relaxed.owl
MONDO:0045054	biolink:NamedThing	cancer-related condition	A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome).	DOVES_relaxed.owl
MONDO:0016123	biolink:NamedThing	muscular tumor		DOVES_relaxed.owl
MONDO:0003467	biolink:NamedThing	mediastinum synovial sarcoma	A synovial sarcoma arising from the mediastinum.	DOVES_relaxed.owl
MONDO:0003808	biolink:NamedThing	mediastinal extraskeletal osteosarcoma	An osteosarcoma arising from the mediastinum.	DOVES_relaxed.owl
MONDO:0004098	biolink:NamedThing	malignant melanocytic peripheral nerve sheath tumor of mediastinum	A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin.	DOVES_relaxed.owl
MONDO:0003796	biolink:NamedThing	rectum Kaposi sarcoma	A Kaposi sarcoma arising from the rectum.	DOVES_relaxed.owl
MONDO:0004360	biolink:NamedThing	breast extraskeletal osteosarcoma	An osteosarcoma arising from the breast tissue.	DOVES_relaxed.owl
MONDO:0006027	biolink:NamedThing	breast synovial sarcoma	A synovial sarcoma (disease) that involves the breast.	DOVES_relaxed.owl
MONDO:0002864	biolink:NamedThing	anus rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus.	DOVES_relaxed.owl
MONDO:0003358	biolink:NamedThing	anus leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells.	DOVES_relaxed.owl
MONDO:0004481	biolink:NamedThing	pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma	A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma.	DOVES_relaxed.owl
MONDO:0005603	biolink:NamedThing	pancreatic tubular adenocarcinoma	A tubular adenocarcinoma that involves the pancreas.	DOVES_relaxed.owl
MONDO:0002868	biolink:NamedThing	bile duct mucinous cystic neoplasm with an associated invasive carcinoma	A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component.	DOVES_relaxed.owl
MONDO:0003979	biolink:NamedThing	intrahepatic bile duct cystadenoma	A mucinous cystic neoplasm that arises from the intrahepatic bile ducts.	DOVES_relaxed.owl
MONDO:0004462	biolink:NamedThing	extrahepatic bile duct cystadenoma	A mucinous cystic neoplasm that arises from the extrahepatic bile ducts.	DOVES_relaxed.owl
MONDO:0020289	biolink:NamedThing	congenital tricuspid malformation		DOVES_relaxed.owl
MONDO:0800108	biolink:NamedThing	cleft leaflet of tricuspid valve		DOVES_relaxed.owl
MONDO:0002871	biolink:NamedThing	testicular trophoblastic tumor	A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas.	DOVES_relaxed.owl
MONDO:0005207	biolink:NamedThing	choriocarcinoma	An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.	DOVES_relaxed.owl
MONDO:0002874	biolink:NamedThing	testicular pure germ cell tumor	A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor.	DOVES_relaxed.owl
MONDO:0003669	biolink:NamedThing	testicular seminoma	A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.	DOVES_relaxed.owl
MONDO:0006447	biolink:NamedThing	testicular non-seminomatous germ cell tumor	A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms.	DOVES_relaxed.owl
MONDO:0003403	biolink:NamedThing	testicular non-seminomatous germ cell cancer	A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor.	DOVES_relaxed.owl
MONDO:0003758	biolink:NamedThing	childhood testicular germ cell tumor	A germ cell tumor that arises from the testis during childhood.	DOVES_relaxed.owl
MONDO:0010274	biolink:NamedThing	testicular germ cell tumor 1		DOVES_relaxed.owl
MONDO:0018193	biolink:NamedThing	testicular teratoma		DOVES_relaxed.owl
MONDO:0016277	biolink:NamedThing	malignant mixed epithelial and mesenchymal tumor of cervix uteri		DOVES_relaxed.owl
MONDO:0002877	biolink:NamedThing	cervical carcinosarcoma	A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma.	DOVES_relaxed.owl
MONDO:0016259	biolink:NamedThing	carcinosarcoma of the corpus uteri	An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component.	DOVES_relaxed.owl
MONDO:0004172	biolink:NamedThing	uterine corpus adenocarcinofibroma	A adenocarcinofibroma that involves the body of uterus.	DOVES_relaxed.owl
MONDO:0016258	biolink:NamedThing	uterine corpus carcinofibroma	An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component.	DOVES_relaxed.owl
MONDO:0021057	biolink:NamedThing	classic or attenuated familial adenomatous polyposis	An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP.	DOVES_relaxed.owl
MONDO:0006677	biolink:NamedThing	bile reflux	Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas.	DOVES_relaxed.owl
MONDO:0007642	biolink:NamedThing	isolated agenesis of gallbladder		DOVES_relaxed.owl
MONDO:0017394	biolink:NamedThing	ketamine-induced biliary dilatation	Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.	DOVES_relaxed.owl
MONDO:0018806	biolink:NamedThing	primary intrahepatic lithiasis		DOVES_relaxed.owl
MONDO:0008978	biolink:NamedThing	chordoma	Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.	DOVES_relaxed.owl
MONDO:0006145	biolink:NamedThing	chondroid chordoma	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage.	DOVES_relaxed.owl
MONDO:0004263	biolink:NamedThing	pediatric infratentorial ependymoblastoma	An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children.	DOVES_relaxed.owl
MONDO:0002916	biolink:NamedThing	brainstem intraparenchymal clear cell meningioma	A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells.	DOVES_relaxed.owl
MONDO:0004371	biolink:NamedThing	spinal multifocal clear cell meningioma	A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells.	DOVES_relaxed.owl
MONDO:0002921	biolink:NamedThing	congenital structural myopathy	A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.	DOVES_relaxed.owl
MONDO:0008058	biolink:NamedThing	cylindrical spirals myopathy	Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.	DOVES_relaxed.owl
MONDO:0009671	biolink:NamedThing	intellectual disability-myopathy-short stature-endocrine defect syndrome	Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.	DOVES_relaxed.owl
MONDO:0010591	biolink:NamedThing	fingerprint body myopathy	Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.	DOVES_relaxed.owl
MONDO:0012929	biolink:NamedThing	Compton-North congenital myopathy		DOVES_relaxed.owl
MONDO:0013731	biolink:NamedThing	MEGF10-Related Myopathy		DOVES_relaxed.owl
MONDO:0014149	biolink:NamedThing	fetal akinesia-cerebral and retinal hemorrhage syndrome	Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.	DOVES_relaxed.owl
MONDO:0014689	biolink:NamedThing	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome		DOVES_relaxed.owl
MONDO:0015755	biolink:NamedThing	myopathy with hexagonally cross-linked tubular arrays	Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.	DOVES_relaxed.owl
MONDO:0015765	biolink:NamedThing	congenital myopathy with cores		DOVES_relaxed.owl
MONDO:0017936	biolink:NamedThing	benign Samaritan congenital myopathy	Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.	DOVES_relaxed.owl
MONDO:0018701	biolink:NamedThing	congenital nemaline myopathy		DOVES_relaxed.owl
MONDO:0019948	biolink:NamedThing	reducing body myopathy	Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.	DOVES_relaxed.owl
MONDO:0100100	biolink:NamedThing	SELENON-related myopathy	Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.	DOVES_relaxed.owl
MONDO:0100150	biolink:NamedThing	RYR1-related myopathy		DOVES_relaxed.owl
MONDO:0002923	biolink:NamedThing	uterine corpus endometrial stromal sarcoma	A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma.	DOVES_relaxed.owl
MONDO:0003030	biolink:NamedThing	endometrioid stromal sarcoma of the cervix	A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.	DOVES_relaxed.owl
MONDO:0003313	biolink:NamedThing	endometrioid stromal sarcoma of the vagina	A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma.	DOVES_relaxed.owl
MONDO:0006975	biolink:NamedThing	smooth muscle tumor	A benign or malignant myomatous neoplasm arising from smooth muscle.	DOVES_relaxed.owl
MONDO:0003744	biolink:NamedThing	spindle cell intraocular melanoma	A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes.	DOVES_relaxed.owl
MONDO:0003130	biolink:NamedThing	mesoblastic nephroma	A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult.	DOVES_relaxed.owl
MONDO:0044919	biolink:NamedThing	malignant renal pelvis neoplasm	A primary or metastatic malignant neoplasm that affects the renal pelvis.	DOVES_relaxed.owl
MONDO:0006646	biolink:NamedThing	angioleiomyoma	A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels.	DOVES_relaxed.owl
MONDO:0013540	biolink:NamedThing	deafness-lymphedema-leukemia syndrome	Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.	DOVES_relaxed.owl
MONDO:0016237	biolink:NamedThing	diffuse neonatal hemangiomatosis	Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.	DOVES_relaxed.owl
MONDO:0018736	biolink:NamedThing	kaposiform lymphangiomatosis	A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells.	DOVES_relaxed.owl
MONDO:0002935	biolink:NamedThing	penis basal cell carcinoma	A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans.	DOVES_relaxed.owl
MONDO:0002936	biolink:NamedThing	scrotum basal cell carcinoma	A scrotal carcinoma that involves the basal cell.	DOVES_relaxed.owl
MONDO:0002937	biolink:NamedThing	nodular basal cell carcinoma	A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated.	DOVES_relaxed.owl
MONDO:0002938	biolink:NamedThing	metatypical basal cell carcinoma	A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma.	DOVES_relaxed.owl
MONDO:0002939	biolink:NamedThing	skin pigmented basal cell carcinoma	A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002.	DOVES_relaxed.owl
MONDO:0002940	biolink:NamedThing	anal margin basal cell carcinoma	A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare.	DOVES_relaxed.owl
MONDO:0002942	biolink:NamedThing	sebaceous basal cell carcinoma		DOVES_relaxed.owl
MONDO:0002943	biolink:NamedThing	external ear basal cell carcinoma	A basal cell carcinoma that arises from the skin of the external ear.	DOVES_relaxed.owl
MONDO:0002945	biolink:NamedThing	micronodular basal cell carcinoma	A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back.	DOVES_relaxed.owl
MONDO:0002947	biolink:NamedThing	adamantinoid basal cell epithelioma		DOVES_relaxed.owl
MONDO:0002948	biolink:NamedThing	skin fibroepithelial basal cell carcinoma	A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course.	DOVES_relaxed.owl
MONDO:0002949	biolink:NamedThing	morpheaform basal cell carcinoma	A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma.	DOVES_relaxed.owl
MONDO:0002950	biolink:NamedThing	skin clear cell basal cell carcinoma	A morphologic variant of basal cell carcinoma characterized by the presence of clear cells.	DOVES_relaxed.owl
MONDO:0002951	biolink:NamedThing	skin adenoid basal cell carcinoma	A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern.	DOVES_relaxed.owl
MONDO:0002952	biolink:NamedThing	follicular basal cell carcinoma		DOVES_relaxed.owl
MONDO:0002953	biolink:NamedThing	skin infiltrative basal cell carcinoma	A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues.	DOVES_relaxed.owl
MONDO:0002954	biolink:NamedThing	superficial multifocal basal cell carcinoma	A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors.	DOVES_relaxed.owl
MONDO:0002956	biolink:NamedThing	skin cystic basal cell carcinoma		DOVES_relaxed.owl
MONDO:0002957	biolink:NamedThing	sarcomatoid basal cell carcinoma		DOVES_relaxed.owl
MONDO:0002958	biolink:NamedThing	signet ring basal cell carcinoma		DOVES_relaxed.owl
MONDO:0003264	biolink:NamedThing	basosquamous carcinoma	A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases.	DOVES_relaxed.owl
MONDO:0011465	biolink:NamedThing	infundibulocystic basal cell carcinoma		DOVES_relaxed.owl
MONDO:0004410	biolink:NamedThing	sarcomatoid penile squamous cell carcinoma	A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells.	DOVES_relaxed.owl
MONDO:0004430	biolink:NamedThing	penis mixed squamous cell carcinoma	A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma).	DOVES_relaxed.owl
MONDO:0004433	biolink:NamedThing	papillary carcinoma of the penis	A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern.	DOVES_relaxed.owl
MONDO:0004671	biolink:NamedThing	penis carcinoma in situ	A in situ carcinoma that involves the penis.	DOVES_relaxed.owl
MONDO:0020656	biolink:NamedThing	human papillomavirus-related penile squamous cell carcinoma	A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection. Morphologic variants include basaloid carcinoma and warty carcinoma.	DOVES_relaxed.owl
MONDO:0004231	biolink:NamedThing	spindle cell variant squamous cell breast carcinoma	A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells.	DOVES_relaxed.owl
MONDO:0002960	biolink:NamedThing	polyradiculopathy	A radiculopathy that is present in more than one nerve.	DOVES_relaxed.owl
MONDO:0022768	biolink:NamedThing	chronic polyradiculoneuritis		DOVES_relaxed.owl
MONDO:0002965	biolink:NamedThing	parovarian cyst	A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni).	DOVES_relaxed.owl
MONDO:0002969	biolink:NamedThing	ciliary body cancer	A malignant neoplasm involving the ciliary body.	DOVES_relaxed.owl
MONDO:0004064	biolink:NamedThing	iris melanoma	A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi.	DOVES_relaxed.owl
MONDO:0021486	biolink:NamedThing	benign neoplasm of ciliary body	A benign neoplasm that involves the ciliary body.	DOVES_relaxed.owl
MONDO:0002982	biolink:NamedThing	peripheral primitive neuroectodermal tumor of soft tissues	A small round cell tumor with neural differentiation arising from the soft tissues.	DOVES_relaxed.owl
MONDO:0021039	biolink:NamedThing	extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor	A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.	DOVES_relaxed.owl
MONDO:0002984	biolink:NamedThing	reticulohistiocytic granuloma	A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003	DOVES_relaxed.owl
MONDO:0004612	biolink:NamedThing	malignant histiocytosis	Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells.	DOVES_relaxed.owl
MONDO:0022338	biolink:NamedThing	ALK+ histiocytosis		DOVES_relaxed.owl
MONDO:0002987	biolink:NamedThing	spongiotic dermatitis	A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication.	DOVES_relaxed.owl
MONDO:0005480	biolink:NamedThing	contact dermatitis	An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen.	DOVES_relaxed.owl
MONDO:0005492	biolink:NamedThing	urticaria	A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.	DOVES_relaxed.owl
MONDO:0006521	biolink:NamedThing	acneiform dermatitis	Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids).	DOVES_relaxed.owl
MONDO:0006523	biolink:NamedThing	acrodermatitis	An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected.	DOVES_relaxed.owl
MONDO:0006554	biolink:NamedThing	granuloma annulare	Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown.	DOVES_relaxed.owl
MONDO:0006555	biolink:NamedThing	granulomatous dermatitis	An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells.	DOVES_relaxed.owl
MONDO:0006572	biolink:NamedThing	lichen planus	A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus.	DOVES_relaxed.owl
MONDO:0006585	biolink:NamedThing	neurodermatitis	Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin.	DOVES_relaxed.owl
MONDO:0006586	biolink:NamedThing	neurotic excoriation	A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin.	DOVES_relaxed.owl
MONDO:0006608	biolink:NamedThing	seborrheic dermatitis	A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching.	DOVES_relaxed.owl
MONDO:0007035	biolink:NamedThing	acanthosis nigricans	A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.	DOVES_relaxed.owl
MONDO:0015104	biolink:NamedThing	porphyria cutanea tarda	The most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis.	DOVES_relaxed.owl
MONDO:0015597	biolink:NamedThing	pustulosis palmaris et plantaris		DOVES_relaxed.owl
MONDO:0018024	biolink:NamedThing	hydroa vacciniforme	A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas.	DOVES_relaxed.owl
MONDO:0021340	biolink:NamedThing	intertrigo	A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation.	DOVES_relaxed.owl
MONDO:0023646	biolink:NamedThing	lipodermatosclerosis	Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.	DOVES_relaxed.owl
MONDO:0043233	biolink:NamedThing	exfoliative dermatitis	The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0100505	biolink:NamedThing	food dermatitis	Dermatitis caused by an allergic reaction to ingested food.	DOVES_relaxed.owl
MONDO:0016276	biolink:NamedThing	high-grade neuroendocrine carcinoma of the cervix uteri	High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.	DOVES_relaxed.owl
MONDO:0021309	biolink:NamedThing	malignant neoplasm of endocervix	A cancer that involves the endocervix.	DOVES_relaxed.owl
MONDO:0002990	biolink:NamedThing	benign deep fibrous histiocytoma	A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases.	DOVES_relaxed.owl
MONDO:0002993	biolink:NamedThing	pancreatic somatostatinoma	A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss.	DOVES_relaxed.owl
MONDO:0004377	biolink:NamedThing	pancreatic non-functioning delta cell tumor	A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome.	DOVES_relaxed.owl
MONDO:0019954	biolink:NamedThing	pancreatic neuroendocrine tumor	Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma).	DOVES_relaxed.owl
MONDO:0003525	biolink:NamedThing	pancreatic gastrin-producing neuroendocrine tumor	A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome.	DOVES_relaxed.owl
MONDO:0004334	biolink:NamedThing	non-functional pancreatic neuroendocrine tumor	A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome.	DOVES_relaxed.owl
MONDO:0005048	biolink:NamedThing	pancreatic insulin-producing neuroendocrine tumor	An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome.	DOVES_relaxed.owl
MONDO:0006976	biolink:NamedThing	somatostatinoma	A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1.	DOVES_relaxed.owl
MONDO:0019955	biolink:NamedThing	GRFoma	6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1).	DOVES_relaxed.owl
MONDO:0019957	biolink:NamedThing	PPoma	PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1).	DOVES_relaxed.owl
MONDO:0019959	biolink:NamedThing	glucagonoma	Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.	DOVES_relaxed.owl
MONDO:0019960	biolink:NamedThing	VIPoma	VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).	DOVES_relaxed.owl
MONDO:0021535	biolink:NamedThing	pancreatic neuroendocrine tumor G1	A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%.	DOVES_relaxed.owl
MONDO:0023206	biolink:NamedThing	functional pancreatic neuroendocrine tumor	A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion.	DOVES_relaxed.owl
MONDO:0003523	biolink:NamedThing	gastrin-producing neuroendocrine tumor	A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine.	DOVES_relaxed.owl
MONDO:0004211	biolink:NamedThing	L-cell glucagon-like peptide-producing neuroendocrine tumor	A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.	DOVES_relaxed.owl
MONDO:0015062	biolink:NamedThing	gastric neuroendocrine tumor, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach.	DOVES_relaxed.owl
MONDO:0003109	biolink:NamedThing	foramen magnum meningioma	A meningioma that affects the foramen magnum.	DOVES_relaxed.owl
MONDO:0003908	biolink:NamedThing	clivus meningioma	A meningioma that affects the clivus.	DOVES_relaxed.owl
MONDO:0004094	biolink:NamedThing	multiple skull base meningioma	Multiple meningiomas that affect the skull base.	DOVES_relaxed.owl
MONDO:0004108	biolink:NamedThing	diaphragma sellae meningioma	A meningioma that affects the diaphragma sellae.	DOVES_relaxed.owl
MONDO:0004367	biolink:NamedThing	petroclival meningioma	A meningioma that affects the petroclival region.	DOVES_relaxed.owl
MONDO:0004368	biolink:NamedThing	sphenoorbital meningioma	A meningioma that affects the sphenoorbital region.	DOVES_relaxed.owl
MONDO:0004370	biolink:NamedThing	sphenocavernous meningioma	A meningioma that affects the sphenocavernous region.	DOVES_relaxed.owl
MONDO:0018201	biolink:NamedThing	extragonadal germ cell tumor	A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum).	DOVES_relaxed.owl
MONDO:0021067	biolink:NamedThing	mediastinal germ cell tumor	A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor.	DOVES_relaxed.owl
MONDO:0003003	biolink:NamedThing	cervical alveolar soft part sarcoma	An alveolar soft part sarcoma arising from the cervix.	DOVES_relaxed.owl
MONDO:0003391	biolink:NamedThing	vulvar alveolar soft part sarcoma	An alveolar soft part sarcoma arising from the vulva.	DOVES_relaxed.owl
MONDO:0016284	biolink:NamedThing	primitive neuroectodermal tumor of the cervix uteri	Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.	DOVES_relaxed.owl
MONDO:0003007	biolink:NamedThing	childhood kidney cell carcinoma	A renal cell carcinoma that occurs during childhood.	DOVES_relaxed.owl
MONDO:0005549	biolink:NamedThing	renal cell adenocarcinoma	A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.	DOVES_relaxed.owl
MONDO:0005005	biolink:NamedThing	clear cell renal carcinoma	A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common.	DOVES_relaxed.owl
MONDO:0006397	biolink:NamedThing	renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions	A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns.	DOVES_relaxed.owl
MONDO:0017884	biolink:NamedThing	papillary renal cell carcinoma	A rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.	DOVES_relaxed.owl
MONDO:0017885	biolink:NamedThing	chromophobe renal cell carcinoma	Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described.	DOVES_relaxed.owl
MONDO:0017887	biolink:NamedThing	renal cell carcinoma associated with neuroblastoma	Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma.	DOVES_relaxed.owl
MONDO:0017890	biolink:NamedThing	tubulocystic renal cell carcinoma	Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported.	DOVES_relaxed.owl
MONDO:0024676	biolink:NamedThing	childhood kidney Wilms tumor	A Wilms tumor of the kidney which occurs in children.	DOVES_relaxed.owl
MONDO:0003205	biolink:NamedThing	renal pelvis adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the renal pelvis	DOVES_relaxed.owl
MONDO:0005220	biolink:NamedThing	collecting duct carcinoma	A carcinoma that arises from epithelial cells of the collecting duct of renal tubule	DOVES_relaxed.owl
MONDO:0005597	biolink:NamedThing	cystic renal cell carcinoma	Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis.	DOVES_relaxed.owl
MONDO:0006260	biolink:NamedThing	kidney medullary carcinoma	A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis.	DOVES_relaxed.owl
MONDO:0007763	biolink:NamedThing	nonpapillary renal cell carcinoma		DOVES_relaxed.owl
MONDO:0017886	biolink:NamedThing	MIT family translocation renal cell carcinoma	MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.	DOVES_relaxed.owl
MONDO:0018449	biolink:NamedThing	acquired cystic disease-associated renal cell carcinoma	Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior.	DOVES_relaxed.owl
MONDO:0003009	biolink:NamedThing	hyperaldosteronism	Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia.	DOVES_relaxed.owl
MONDO:0003010	biolink:NamedThing	multilocular clear cell renal cell carcinoma	A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells.	DOVES_relaxed.owl
MONDO:0006314	biolink:NamedThing	nasal cavity polyp	A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection.	DOVES_relaxed.owl
MONDO:0400005	biolink:NamedThing	refeeding syndrome	Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally).	DOVES_relaxed.owl
MONDO:0004124	biolink:NamedThing	prostate stromal sarcoma	A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism.	DOVES_relaxed.owl
MONDO:0003039	biolink:NamedThing	nominal aphasia	Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people.	DOVES_relaxed.owl
MONDO:0003042	biolink:NamedThing	adult mesenchymal chondrosarcoma	A mesenchymal chondrosarcoma occurring in adults.	DOVES_relaxed.owl
MONDO:0003047	biolink:NamedThing	thymic large cell neuroendocrine carcinoma	An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis.	DOVES_relaxed.owl
MONDO:0003960	biolink:NamedThing	pulmonary large cell neuroendocrine carcinoma	A large cell neuroendocrine carcinoma that involves the lung(s).	DOVES_relaxed.owl
MONDO:0006347	biolink:NamedThing	pancreatic large cell neuroendocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells.	DOVES_relaxed.owl
MONDO:0004122	biolink:NamedThing	thymus small cell carcinoma	An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies.	DOVES_relaxed.owl
MONDO:0016976	biolink:NamedThing	well-differentiated thymic neuroendocrine carcinoma		DOVES_relaxed.owl
MONDO:0016977	biolink:NamedThing	moderately-differentiated thymic neuroendocrine carcinoma		DOVES_relaxed.owl
MONDO:0016978	biolink:NamedThing	poorly differentiated thymic neuroendocrine carcinoma		DOVES_relaxed.owl
MONDO:0003050	biolink:NamedThing	lung large cell carcinoma	A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection.	DOVES_relaxed.owl
MONDO:0003572	biolink:NamedThing	nasopharyngeal type undifferentiated carcinoma	A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate.	DOVES_relaxed.owl
MONDO:0006404	biolink:NamedThing	salivary gland large cell carcinoma	A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass.	DOVES_relaxed.owl
MONDO:0006468	biolink:NamedThing	thyroid gland undifferentiated (anaplastic) carcinoma	A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive.	DOVES_relaxed.owl
MONDO:0056806	biolink:NamedThing	non-small cell squamous lung carcinoma	A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma.	DOVES_relaxed.owl
MONDO:0003051	biolink:NamedThing	non specific chronic endometritis	Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present.	DOVES_relaxed.owl
MONDO:0024279	biolink:NamedThing	chronic endometritis	A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding.	DOVES_relaxed.owl
MONDO:0003052	biolink:NamedThing	granulomatous endometritis	Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis.	DOVES_relaxed.owl
MONDO:0003053	biolink:NamedThing	choroid plexus meningioma	A meningioma that affects the choroid plexus.	DOVES_relaxed.owl
MONDO:0003775	biolink:NamedThing	lateral ventricle meningioma	A meningioma that affects the lateral ventricle of the brain.	DOVES_relaxed.owl
MONDO:0006108	biolink:NamedThing	bile duct adenoma	A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction.	DOVES_relaxed.owl
MONDO:0003064	biolink:NamedThing	inverted transitional cell papilloma	A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern.	DOVES_relaxed.owl
MONDO:0003925	biolink:NamedThing	ethmoid sinus inverted papilloma	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.	DOVES_relaxed.owl
MONDO:0004326	biolink:NamedThing	sphenoid sinus inverted papilloma	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.	DOVES_relaxed.owl
MONDO:0004384	biolink:NamedThing	maxillary sinus inverted papilloma	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.	DOVES_relaxed.owl
MONDO:0004448	biolink:NamedThing	frontal sinus inverted papilloma	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.	DOVES_relaxed.owl
MONDO:0003066	biolink:NamedThing	submandibular adenitis	Inflammation of the submandibular lymph nodes.	DOVES_relaxed.owl
MONDO:0021244	biolink:NamedThing	submandibular gland neoplasm	A neoplasm (disease) that involves the submandibular gland.	DOVES_relaxed.owl
MONDO:0027091	biolink:NamedThing	xanthogranulomatous sialadenitis		DOVES_relaxed.owl
MONDO:0021453	biolink:NamedThing	benign neoplasm of retina	A benign neoplasm that involves the retina.	DOVES_relaxed.owl
MONDO:0024341	biolink:NamedThing	retinal cell neoplasm	A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma.	DOVES_relaxed.owl
MONDO:0003073	biolink:NamedThing	trilateral retinoblastoma	Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999).	DOVES_relaxed.owl
MONDO:0008380	biolink:NamedThing	retinoblastoma	A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.	DOVES_relaxed.owl
MONDO:0003075	biolink:NamedThing	bilateral retinoblastoma	Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well.	DOVES_relaxed.owl
MONDO:0003076	biolink:NamedThing	unilateral retinoblastoma	A retinoblastoma that only involves a single eye.	DOVES_relaxed.owl
MONDO:0003077	biolink:NamedThing	intraocular retinoblastoma	Retinoblastoma restricted to local involvement.	DOVES_relaxed.owl
MONDO:0003078	biolink:NamedThing	extraocular retinoblastoma	Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow.	DOVES_relaxed.owl
MONDO:0018161	biolink:NamedThing	non-hereditary retinoblastoma		DOVES_relaxed.owl
MONDO:0019512	biolink:NamedThing	congenital heart malformation	A disease that has its basis in the disruption of heart development.	DOVES_relaxed.owl
MONDO:0022430	biolink:NamedThing	persistent fetal circulation syndrome	A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus.	DOVES_relaxed.owl
MONDO:0024291	biolink:NamedThing	vascular malformation	A non-neoplastic disorder that is the result of defects of vascular morphogenesis.	DOVES_relaxed.owl
MONDO:0003534	biolink:NamedThing	papillary thymic adenocarcinoma	A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern. There are only a few published cases, and no good data regarding prognosis.	DOVES_relaxed.owl
MONDO:0003088	biolink:NamedThing	intramuscular hemangioma	A hemangioma arising from skeletal muscle.	DOVES_relaxed.owl
MONDO:0004533	biolink:NamedThing	perineural angioma	A hemangioma arising from perineural tissues.	DOVES_relaxed.owl
MONDO:0004405	biolink:NamedThing	Barrett adenocarcinoma	An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002	DOVES_relaxed.owl
MONDO:0003809	biolink:NamedThing	malignant mediastinum hemangiopericytoma	A malignant hemangiopericytoma arising in the mediastinum.	DOVES_relaxed.owl
MONDO:0003104	biolink:NamedThing	epicardium cancer	A malignant neoplasm involving the epicardium.	DOVES_relaxed.owl
MONDO:0021508	biolink:NamedThing	benign neoplasm of epicardium	A benign neoplasm that involves the epicardium.	DOVES_relaxed.owl
MONDO:0004401	biolink:NamedThing	testis refractory cancer	Malignant testicular germ cell tumor that is resistant to treatment.	DOVES_relaxed.owl
MONDO:0004442	biolink:NamedThing	testis polyembryoma	A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies.	DOVES_relaxed.owl
MONDO:0021282	biolink:NamedThing	malignant teratoma of testis	A malignant teratoma that involves the testis.	DOVES_relaxed.owl
MONDO:0016418	biolink:NamedThing	multiple system atrophy, cerebellar type	Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).	DOVES_relaxed.owl
MONDO:0018192	biolink:NamedThing	paratesticular adenocarcinoma		DOVES_relaxed.owl
MONDO:0003128	biolink:NamedThing	classic pulmonary blastoma	A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements.	DOVES_relaxed.owl
MONDO:0005933	biolink:NamedThing	pulmonary blastoma	A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic.	DOVES_relaxed.owl
MONDO:0003129	biolink:NamedThing	epithelial predominant pulmonary blastoma	A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma.	DOVES_relaxed.owl
MONDO:0003144	biolink:NamedThing	medulloepithelioma	A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting.	DOVES_relaxed.owl
MONDO:0016029	biolink:NamedThing	esthesioneuroblastoma	A rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.	DOVES_relaxed.owl
MONDO:0003147	biolink:NamedThing	space motion sickness	Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)	DOVES_relaxed.owl
MONDO:0003152	biolink:NamedThing	adult brainstem gliosarcoma		DOVES_relaxed.owl
MONDO:0003153	biolink:NamedThing	adult brainstem glioma	A brain stem glioma that occurs in an adult.	DOVES_relaxed.owl
MONDO:0003705	biolink:NamedThing	adult brainstem mixed glioma		DOVES_relaxed.owl
MONDO:0003706	biolink:NamedThing	adult brainstem astrocytoma		DOVES_relaxed.owl
MONDO:0003173	biolink:NamedThing	brain stem astrocytic neoplasm	An astrocytoma that arises from the brain stem.	DOVES_relaxed.owl
MONDO:0003869	biolink:NamedThing	childhood brain stem glioma	An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life.	DOVES_relaxed.owl
MONDO:0014414	biolink:NamedThing	STAT3-related early-onset multisystem autoimmune disease		DOVES_relaxed.owl
MONDO:0019044	biolink:NamedThing	tumor of hematopoietic and lymphoid tissues		DOVES_relaxed.owl
MONDO:0044881	biolink:NamedThing	hematopoietic and lymphoid cell neoplasm	A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes.	DOVES_relaxed.owl
MONDO:0003163	biolink:NamedThing	cauda equina intradural extramedullary astrocytoma		DOVES_relaxed.owl
MONDO:0003164	biolink:NamedThing	cauda equina neoplasm	A neoplasm involving a cauda equina.	DOVES_relaxed.owl
MONDO:0016684	biolink:NamedThing	anaplastic astrocytoma	Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.	DOVES_relaxed.owl
MONDO:0016685	biolink:NamedThing	low-grade astrocytoma		DOVES_relaxed.owl
MONDO:0021631	biolink:NamedThing	brain astrocytoma	A astrocytoma (excluding glioblastoma) that involves the brain.	DOVES_relaxed.owl
MONDO:0003165	biolink:NamedThing	cerebellar astrocytoma	Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative.	DOVES_relaxed.owl
MONDO:0006131	biolink:NamedThing	cerebellar liponeurocytoma	A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0016691	biolink:NamedThing	pilocytic astrocytoma	Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.	DOVES_relaxed.owl
MONDO:0004000	biolink:NamedThing	childhood pilocytic astrocytoma	A pilocytic astrocytoma that occurs during childhood.	DOVES_relaxed.owl
MONDO:0016692	biolink:NamedThing	pilomyxoid astrocytoma	An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive.	DOVES_relaxed.owl
MONDO:0006372	biolink:NamedThing	pituicytoma	An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido.	DOVES_relaxed.owl
MONDO:0006284	biolink:NamedThing	major salivary gland carcinoma	A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland.	DOVES_relaxed.owl
MONDO:0020694	biolink:NamedThing	salivary gland epithelial myoepithelial carcinoma	A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells.	DOVES_relaxed.owl
MONDO:0021009	biolink:NamedThing	salivary gland mucoepidermoid carcinoma	A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.	DOVES_relaxed.owl
MONDO:0044915	biolink:NamedThing	salivary duct carcinoma	An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites.	DOVES_relaxed.owl
MONDO:0045069	biolink:NamedThing	minor salivary gland carcinoma	A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma.	DOVES_relaxed.owl
MONDO:0003214	biolink:NamedThing	apocrine adenocarcinoma	A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course.	DOVES_relaxed.owl
MONDO:0006245	biolink:NamedThing	hidradenocarcinoma	A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes.	DOVES_relaxed.owl
MONDO:0024240	biolink:NamedThing	eccrine carcinoma	An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma.	DOVES_relaxed.owl
MONDO:0004006	biolink:NamedThing	rete ovarii cystadenofibroma	An exceptionally rare cystadenofibroma that arises from the rete ovarii.	DOVES_relaxed.owl
MONDO:0006243	biolink:NamedThing	hepatoid adenocarcinoma	An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver.	DOVES_relaxed.owl
MONDO:0007256	biolink:NamedThing	hepatocellular carcinoma	A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.	DOVES_relaxed.owl
MONDO:0003637	biolink:NamedThing	clear cell-sugar-tumor of the lung	A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative.	DOVES_relaxed.owl
MONDO:0003195	biolink:NamedThing	peritoneal serous adenocarcinoma	A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary.	DOVES_relaxed.owl
MONDO:0006196	biolink:NamedThing	endometrial serous adenocarcinoma	A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor.	DOVES_relaxed.owl
MONDO:0006386	biolink:NamedThing	primary peritoneal serous adenocarcinoma	A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity.	DOVES_relaxed.owl
MONDO:0021289	biolink:NamedThing	carcinoma in situ of cecum	A in situ carcinoma that involves the caecum.	DOVES_relaxed.owl
MONDO:0006088	biolink:NamedThing	appendix adenoma	A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe.	DOVES_relaxed.owl
MONDO:0015066	biolink:NamedThing	neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix.	DOVES_relaxed.owl
MONDO:0003202	biolink:NamedThing	pituitary gland basophilic carcinoma		DOVES_relaxed.owl
MONDO:0006069	biolink:NamedThing	ACTH-producing pituitary gland carcinoma	A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease.	DOVES_relaxed.owl
MONDO:0006388	biolink:NamedThing	prolactin-producing pituitary gland carcinoma	A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin.	DOVES_relaxed.owl
MONDO:0005519	biolink:NamedThing	renal pelvis carcinoma	A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas.	DOVES_relaxed.owl
MONDO:0021296	biolink:NamedThing	carcinoma in situ of renal pelvis	A in situ carcinoma that involves the renal pelvis.	DOVES_relaxed.owl
MONDO:0003210	biolink:NamedThing	intrahepatic cholangiocarcinoma	A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.	DOVES_relaxed.owl
MONDO:0100132	biolink:NamedThing	intrahepatic bile duct adenosquamous carcinoma	An adenosquamous carcinoma that arises from the intrahepatic bile ducts.	DOVES_relaxed.owl
MONDO:0019087	biolink:NamedThing	cholangiocarcinoma	A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.	DOVES_relaxed.owl
MONDO:0004556	biolink:NamedThing	carcinoma arising in nasal papillomatosis	A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose.	DOVES_relaxed.owl
MONDO:0005003	biolink:NamedThing	chronic pancreatitis	A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus.	DOVES_relaxed.owl
MONDO:0005589	biolink:NamedThing	thiopurine immunosuppressant-induced pancreatitis	Pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine.	DOVES_relaxed.owl
MONDO:0015175	biolink:NamedThing	autoimmune pancreatitis	Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.	DOVES_relaxed.owl
MONDO:0003235	biolink:NamedThing	optic nerve glioma	A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.	DOVES_relaxed.owl
MONDO:0003931	biolink:NamedThing	childhood optic tract astrocytoma	An astrocytoma that arises from the visual pathway and occurs during childhood.	DOVES_relaxed.owl
MONDO:0003859	biolink:NamedThing	bilateral meningioma of optic nerve	Meningiomas that affects both optic nerves.	DOVES_relaxed.owl
MONDO:0003236	biolink:NamedThing	atypical polypoid adenomyoma	An adenomyoma characterized by the presence of marked glandular architectural complexity.	DOVES_relaxed.owl
MONDO:0003238	biolink:NamedThing	cervical adenomyoma	A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma.	DOVES_relaxed.owl
MONDO:0003243	biolink:NamedThing	hepatocellular clear cell carcinoma	A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells.	DOVES_relaxed.owl
MONDO:0003387	biolink:NamedThing	urethra clear cell adenocarcinoma	A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells.	DOVES_relaxed.owl
MONDO:0003245	biolink:NamedThing	aflatoxin-related hepatocellular carcinoma	A hepatocellular carcinoma that develops following exposure to aflatoxin.	DOVES_relaxed.owl
MONDO:0003246	biolink:NamedThing	sclerosing hepatic carcinoma	An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae.	DOVES_relaxed.owl
MONDO:0016216	biolink:NamedThing	adult hepatocellular carcinoma	Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.	DOVES_relaxed.owl
MONDO:0003248	biolink:NamedThing	adult pineal parenchymal tumor	A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults.	DOVES_relaxed.owl
MONDO:0024890	biolink:NamedThing	pineal parenchymal cell neoplasm	A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)	DOVES_relaxed.owl
MONDO:0006369	biolink:NamedThing	pineal parenchymal tumor of intermediate differentiation	A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0016721	biolink:NamedThing	pineal tumor of neuroepithelial tissue		DOVES_relaxed.owl
MONDO:0003254	biolink:NamedThing	cardiac granular cell neoplasm	A very rare granular cell tumor that arises from the heart.	DOVES_relaxed.owl
MONDO:0056805	biolink:NamedThing	benign peripheral nerve granular cell tumor	A benign granular cell tumor that involves the nerve.	DOVES_relaxed.owl
MONDO:0003840	biolink:NamedThing	epicardium lipoma	A rare benign adipose tissue neoplasm of the epicardium of the heart.	DOVES_relaxed.owl
MONDO:0004373	biolink:NamedThing	adult papillary meningioma	A papillary meningioma occurring in adults.	DOVES_relaxed.owl
MONDO:0004223	biolink:NamedThing	polyp of middle ear	A benign polypoid growth in the middle ear.	DOVES_relaxed.owl
MONDO:0003722	biolink:NamedThing	internal auditory canal meningioma	A meningioma that affects the internal auditory canal.	DOVES_relaxed.owl
MONDO:0003760	biolink:NamedThing	pediatric ovarian germ cell tumor	A germ cell tumor that arises from the ovary and occurs in children.	DOVES_relaxed.owl
MONDO:0005602	biolink:NamedThing	ovarian teratoma	A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.	DOVES_relaxed.owl
MONDO:0003292	biolink:NamedThing	anus leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0003300	biolink:NamedThing	appendix leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOVES_relaxed.owl
MONDO:0003307	biolink:NamedThing	multiple mucosal neuroma		DOVES_relaxed.owl
MONDO:0700058	biolink:NamedThing	Morton neuroma	Compressive neuropathy of the forefoot interdigital nerve chiefly due to compression and irritation at the plantar aspect of the transverse intermetatarsal ligament. It is not a true neuroma as the condition is degenerative rather than neoplastic. The most common location for Morton neuroma is between the 2nd and 3rd metatarsals.	DOVES_relaxed.owl
MONDO:0003311	biolink:NamedThing	endometrial stromal tumor	Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal).	DOVES_relaxed.owl
MONDO:0003316	biolink:NamedThing	nonanaplastic kidney Wilms tumor	Wilms tumor of the kidney characterized by the absence of nuclear anaplasia.	DOVES_relaxed.owl
MONDO:0003317	biolink:NamedThing	metachronous kidney Wilms' tumor	Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor.	DOVES_relaxed.owl
MONDO:0003318	biolink:NamedThing	mixed cell type kidney Wilms' tumor	Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern).	DOVES_relaxed.owl
MONDO:0003320	biolink:NamedThing	blastema predominant kidney Wilms tumor	Wilms tumor of the kidney characterized by the predominance of the blastema component.	DOVES_relaxed.owl
MONDO:0003322	biolink:NamedThing	epithelial predominant Wilms' tumor	Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes.	DOVES_relaxed.owl
MONDO:0006432	biolink:NamedThing	stromal predominant kidney Wilms tumor	Wilms tumor of the kidney characterized by the predominance of the mesenchymal component.	DOVES_relaxed.owl
MONDO:0024675	biolink:NamedThing	adult kidney Wilms tumor	Wilms tumor of the kidney which occurs in adults.	DOVES_relaxed.owl
MONDO:0003325	biolink:NamedThing	nodular ganglioneuroblastoma	A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules.	DOVES_relaxed.owl
MONDO:0005035	biolink:NamedThing	ganglioneuroblastoma	A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular.	DOVES_relaxed.owl
MONDO:0003326	biolink:NamedThing	intermixed schwannian stroma-rich ganglioneuroblastoma	A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules.	DOVES_relaxed.owl
MONDO:0003819	biolink:NamedThing	childhood teratoma of the ovary	A mature or immature teratoma that arises from the ovary and occurs in children.	DOVES_relaxed.owl
MONDO:0003821	biolink:NamedThing	ovarian biphasic or triphasic teratoma	A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm.	DOVES_relaxed.owl
MONDO:0003332	biolink:NamedThing	malignant struma ovarii	An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion).	DOVES_relaxed.owl
MONDO:0006980	biolink:NamedThing	struma ovarii	An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion).	DOVES_relaxed.owl
MONDO:0003333	biolink:NamedThing	benign struma ovarii	A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues.	DOVES_relaxed.owl
MONDO:0018369	biolink:NamedThing	immature ovarian teratoma	A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients.	DOVES_relaxed.owl
MONDO:0004082	biolink:NamedThing	childhood immature teratoma of ovary	An immature teratoma that arises from the ovary and occurs in children.	DOVES_relaxed.owl
MONDO:0003463	biolink:NamedThing	ovarian endometrioid adenofibroma	A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma.	DOVES_relaxed.owl
MONDO:0003695	biolink:NamedThing	ovarian clear cell adenofibroma	An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma.	DOVES_relaxed.owl
MONDO:0003873	biolink:NamedThing	ovarian surface papilloma	A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary.	DOVES_relaxed.owl
MONDO:0006340	biolink:NamedThing	ovarian serous adenofibroma	A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma.	DOVES_relaxed.owl
MONDO:0008168	biolink:NamedThing	ovarian fibroma	A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts.	DOVES_relaxed.owl
MONDO:0016092	biolink:NamedThing	serous or mucinous cystadenoma of childhood	Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.	DOVES_relaxed.owl
MONDO:0017800	biolink:NamedThing	pseudo-Meigs syndrome		DOVES_relaxed.owl
MONDO:0017801	biolink:NamedThing	atypical Meigs syndrome		DOVES_relaxed.owl
MONDO:0024387	biolink:NamedThing	benign ovarian sex cord-stromal tumor	A sex cord-stromal tumor arising from the ovary, without metastatic potential.	DOVES_relaxed.owl
MONDO:0006692	biolink:NamedThing	central pontine myelinolysis	A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly.	DOVES_relaxed.owl
MONDO:0016430	biolink:NamedThing	Balo concentric sclerosis	Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity.	DOVES_relaxed.owl
MONDO:0020800	biolink:NamedThing	demyelinating disease of central nervous system	Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system.	DOVES_relaxed.owl
MONDO:0017586	biolink:NamedThing	onychocytic matricoma	Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision.	DOVES_relaxed.owl
MONDO:0017587	biolink:NamedThing	onychomatricoma	A neoplasm involving a UBERON:0002283.	DOVES_relaxed.owl
MONDO:0021281	biolink:NamedThing	cavernous hemangioma of retina	A cavernous hemangioma that involves the retina.	DOVES_relaxed.owl
MONDO:0003345	biolink:NamedThing	hilar cholangiocarcinoma	A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts.	DOVES_relaxed.owl
MONDO:0004451	biolink:NamedThing	sarcomatous intrahepatic cholangiocarcinoma	A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells.	DOVES_relaxed.owl
MONDO:0044788	biolink:NamedThing	perihilar intrahepatic cholangiocarcinoma	An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts.	DOVES_relaxed.owl
MONDO:0003997	biolink:NamedThing	colon Kaposi sarcoma	A Kaposi sarcoma arising from the colon.	DOVES_relaxed.owl
MONDO:0011719	biolink:NamedThing	gastrointestinal stromal tumor	Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.	DOVES_relaxed.owl
MONDO:0003995	biolink:NamedThing	vulvar childhood botryoid-type embryonal rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.	DOVES_relaxed.owl
MONDO:0004243	biolink:NamedThing	vulvar proximal-type epithelioid sarcoma	An epithelioid sarcoma of the proximal type involving the vulva.	DOVES_relaxed.owl
MONDO:0010778	biolink:NamedThing	cyclic vomiting syndrome	A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting.	DOVES_relaxed.owl
MONDO:0015790	biolink:NamedThing	central diabetes insipidus	Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI).	DOVES_relaxed.owl
MONDO:0018202	biolink:NamedThing	gonadal germ cell tumor		DOVES_relaxed.owl
MONDO:0044878	biolink:NamedThing	adult germ cell tumor	A germ cell tumor that occurs during adulthood.	DOVES_relaxed.owl
MONDO:0023283	biolink:NamedThing	ovarian granulosa cell tumor	A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis.	DOVES_relaxed.owl
MONDO:0003396	biolink:NamedThing	epulis	A non-neoplastic nodular lesion that arises from the gingiva.	DOVES_relaxed.owl
MONDO:0003397	biolink:NamedThing	gingival hypertrophy	Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells.	DOVES_relaxed.owl
MONDO:0005079	biolink:NamedThing	polyp	A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.	DOVES_relaxed.owl
MONDO:0006249	biolink:NamedThing	hyperplastic polyp	A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000).	DOVES_relaxed.owl
MONDO:0021408	biolink:NamedThing	polyp of frontal sinus	A polyp that involves the frontal sinus.	DOVES_relaxed.owl
MONDO:0021418	biolink:NamedThing	polyp of ethmoidal sinus	A polyp that involves the ethmoid sinus.	DOVES_relaxed.owl
MONDO:0060765	biolink:NamedThing	fibroepithelial polyp	A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp.	DOVES_relaxed.owl
MONDO:0003399	biolink:NamedThing	pineal region yolk sac tumor	A yolk sac tumor that involves the pineal body.	DOVES_relaxed.owl
MONDO:0003480	biolink:NamedThing	pineal region dysgerminoma	A dysgerminoma (disease) that involves the pineal body.	DOVES_relaxed.owl
MONDO:0003509	biolink:NamedThing	pineal region choriocarcinoma	A choriocarcinoma (disease) that involves the pineal body.	DOVES_relaxed.owl
MONDO:0004017	biolink:NamedThing	pineal region immature teratoma		DOVES_relaxed.owl
MONDO:0003786	biolink:NamedThing	childhood testicular choriocarcinoma	A choriocarcinoma that arises from the testis during childhood.	DOVES_relaxed.owl
MONDO:0003787	biolink:NamedThing	childhood testicular mixed germ cell cancer	A malignant mixed germ cell neoplasm that arises from the testis during childhood.	DOVES_relaxed.owl
MONDO:0003788	biolink:NamedThing	childhood embryonal testis carcinoma	An embryonal carcinoma that arises from the testis during childhood.	DOVES_relaxed.owl
MONDO:0003953	biolink:NamedThing	pediatric CNS choriocarcinoma	A choriocarcinoma that arises from the central nervous system and occurs during childhood.	DOVES_relaxed.owl
MONDO:0004153	biolink:NamedThing	childhood central nervous system embryonal carcinoma	An embryonal carcinoma that arises from the central nervous system and occurs during childhood.	DOVES_relaxed.owl
MONDO:0004193	biolink:NamedThing	pediatric ovarian dysgerminoma	A dysgerminoma that arises from the ovary and occurs in children.	DOVES_relaxed.owl
MONDO:0004257	biolink:NamedThing	childhood central nervous system mixed germ cell tumor	A mixed germ cell tumor that arises from the central nervous system and occurs during childhood.	DOVES_relaxed.owl
MONDO:0004441	biolink:NamedThing	childhood ovarian embryonal carcinoma	An embryonal carcinoma that arises from the ovary and occurs in children.	DOVES_relaxed.owl
MONDO:0004535	biolink:NamedThing	childhood choriocarcinoma of the ovary	A non-gestational choriocarcinoma that arises from the ovary and occurs in children.	DOVES_relaxed.owl
MONDO:0003759	biolink:NamedThing	childhood ovarian yolk sac tumor	A yolk sac tumor that arises from the ovary and occurs in children.	DOVES_relaxed.owl
MONDO:0003875	biolink:NamedThing	childhood central nervous system mature teratoma	A mature teratoma that arises from the central nervous system during childhood.	DOVES_relaxed.owl
MONDO:0003958	biolink:NamedThing	childhood central nervous system immature teratoma	An immature teratoma that arises from the central nervous system and occurs during childhood.	DOVES_relaxed.owl
MONDO:0004218	biolink:NamedThing	childhood germ cell brain tumor	A germ cell tumor arising from brain during childhood.	DOVES_relaxed.owl
MONDO:0003508	biolink:NamedThing	choriocarcinoma of testis	A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.	DOVES_relaxed.owl
MONDO:0100226	biolink:NamedThing	parasomnia, sleepwalking type	A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%).	DOVES_relaxed.owl
MONDO:0800355	biolink:NamedThing	parasomnia, sleep terrors type		DOVES_relaxed.owl
MONDO:0003408	biolink:NamedThing	ovarian primitive germ cell tumor	A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component.	DOVES_relaxed.owl
MONDO:0003507	biolink:NamedThing	choriocarcinoma of ovary	A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma.	DOVES_relaxed.owl
MONDO:0017327	biolink:NamedThing	primary non-gestational choriocarcinoma of ovary	Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism.	DOVES_relaxed.owl
MONDO:0020538	biolink:NamedThing	malignant dysgerminomatous germ cell tumor of ovary	Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality.	DOVES_relaxed.owl
MONDO:0003414	biolink:NamedThing	skin pilomatrix carcinoma	A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites.	DOVES_relaxed.owl
MONDO:0003444	biolink:NamedThing	intrahepatic bile duct adenoma	A rare adenoma that arises from the intrahepatic biliary tree.	DOVES_relaxed.owl
MONDO:0023642	biolink:NamedThing	Weber syndrome		DOVES_relaxed.owl
MONDO:0003829	biolink:NamedThing	chromophil adenoma of the kidney	A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei.	DOVES_relaxed.owl
MONDO:0004250	biolink:NamedThing	extrahepatic bile duct papillary adenoma	An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern.	DOVES_relaxed.owl
MONDO:0004428	biolink:NamedThing	alveoli adenoma	A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative.	DOVES_relaxed.owl
MONDO:0003429	biolink:NamedThing	functioning pituitary gland adenoma	A hormone producing pituitary gland adenoma, associated with a hormonal syndrome.	DOVES_relaxed.owl
MONDO:0004133	biolink:NamedThing	pituitary gland mixed eosinophil-basophil adenoma	An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes.	DOVES_relaxed.owl
MONDO:0006068	biolink:NamedThing	ACTH-producing pituitary gland adenoma	An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion.	DOVES_relaxed.owl
MONDO:0006238	biolink:NamedThing	growth hormone-producing pituitary gland adenoma	An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly.	DOVES_relaxed.owl
MONDO:0006634	biolink:NamedThing	pituitary gland acidophil adenoma	An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes.	DOVES_relaxed.owl
MONDO:0006701	biolink:NamedThing	chromophobe adenoma	An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes.	DOVES_relaxed.owl
MONDO:0019613	biolink:NamedThing	non-functioning pituitary adenoma	A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome.	DOVES_relaxed.owl
MONDO:0003437	biolink:NamedThing	occult small cell lung carcinoma	A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.	DOVES_relaxed.owl
MONDO:0004142	biolink:NamedThing	lung combined large cell neuroendocrine carcinoma	A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma.	DOVES_relaxed.owl
MONDO:0003565	biolink:NamedThing	urethral villous adenoma	An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern.	DOVES_relaxed.owl
MONDO:0003946	biolink:NamedThing	vaginal villous adenoma	An adenoma that arises from the vagina and is characterized by a villous architectural pattern.	DOVES_relaxed.owl
MONDO:0006396	biolink:NamedThing	rectal villous adenoma	A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.	DOVES_relaxed.owl
MONDO:0003717	biolink:NamedThing	renal pelvis papillary tumor	A papillary tumor originating in the renal pelvis.	DOVES_relaxed.owl
MONDO:0024337	biolink:NamedThing	urothelial neoplasm	A neoplasm involving a urothelium.	DOVES_relaxed.owl
MONDO:0003755	biolink:NamedThing	urinary tract non-invasive transitional cell neoplasm		DOVES_relaxed.owl
MONDO:0006483	biolink:NamedThing	urothelial dysplasia	A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract.	DOVES_relaxed.owl
MONDO:0004303	biolink:NamedThing	parathyroid gland clear cell adenoma	A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm.	DOVES_relaxed.owl
MONDO:0003453	biolink:NamedThing	conjunctival intraepithelial neoplasm		DOVES_relaxed.owl
MONDO:0006105	biolink:NamedThing	benign conjunctival neoplasm	Abnormal growth of the cells of the conjunctiva without malignant characteristics.	DOVES_relaxed.owl
MONDO:0020205	biolink:NamedThing	bulbar conjunctival dermoid or conjunctival dermolipoma		DOVES_relaxed.owl
MONDO:0003801	biolink:NamedThing	corneal intraepithelial neoplasm	A squamous cell intraepithelial neoplasia that involves the cornea.	DOVES_relaxed.owl
MONDO:0004253	biolink:NamedThing	intraductal breast papillomatosis	A benign breast neoplasm characterized by the proliferation of multiple papillomas within the lumen of the ducts.	DOVES_relaxed.owl
MONDO:0003459	biolink:NamedThing	cervical adenofibroma	A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements.	DOVES_relaxed.owl
MONDO:0003465	biolink:NamedThing	fibrous synovial sarcoma		DOVES_relaxed.owl
MONDO:0003468	biolink:NamedThing	biphasic synovial sarcoma	A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component.	DOVES_relaxed.owl
MONDO:0005067	biolink:NamedThing	monophasic synovial sarcoma	A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only.	DOVES_relaxed.owl
MONDO:0003469	biolink:NamedThing	epithelioid cell synovial sarcoma	A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures.	DOVES_relaxed.owl
MONDO:0003470	biolink:NamedThing	cellular ependymoma	An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0016698	biolink:NamedThing	ependymoma	A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)	DOVES_relaxed.owl
MONDO:0003473	biolink:NamedThing	spinal cord ependymoma	An ependymoma that arises from the spinal cord.	DOVES_relaxed.owl
MONDO:0003474	biolink:NamedThing	tanycytic ependymoma	A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)	DOVES_relaxed.owl
MONDO:0003475	biolink:NamedThing	papillary ependymoma	A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0003476	biolink:NamedThing	clear cell ependymoma	An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo.	DOVES_relaxed.owl
MONDO:0016697	biolink:NamedThing	low grade ependymoma		DOVES_relaxed.owl
MONDO:0004389	biolink:NamedThing	mite infestation	Infestations with arthropods of the subclass acari, superorder Acariformes.	DOVES_relaxed.owl
MONDO:0005980	biolink:NamedThing	tick infestation	Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks.	DOVES_relaxed.owl
MONDO:0019147	biolink:NamedThing	myiasis	The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes.	DOVES_relaxed.owl
MONDO:0024303	biolink:NamedThing	external hirudiniasis	The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate.	DOVES_relaxed.owl
MONDO:0003481	biolink:NamedThing	dysgerminoma of ovary	A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage.	DOVES_relaxed.owl
MONDO:0004322	biolink:NamedThing	non-gestational ovarian choriocarcinoma	A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma.	DOVES_relaxed.owl
MONDO:0004087	biolink:NamedThing	basaloid large cell lung carcinoma	A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis.	DOVES_relaxed.owl
MONDO:0006202	biolink:NamedThing	extrahepatic bile duct adenosquamous carcinoma	A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components.	DOVES_relaxed.owl
MONDO:0004232	biolink:NamedThing	large cell keratinizing variant squamous cell breast carcinoma	A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization.	DOVES_relaxed.owl
MONDO:0056815	biolink:NamedThing	liver adenosquamous carcinoma	A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells.	DOVES_relaxed.owl
MONDO:0003880	biolink:NamedThing	ceruminous carcinoma	An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal.	DOVES_relaxed.owl
MONDO:0003505	biolink:NamedThing	femoral cancer	A cancer involving a femur.	DOVES_relaxed.owl
MONDO:0006469	biolink:NamedThing	tibial adamantinoma	An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases).	DOVES_relaxed.owl
MONDO:0004491	biolink:NamedThing	uterine corpus choriocarcinoma	An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.	DOVES_relaxed.owl
MONDO:0006222	biolink:NamedThing	gastric choriocarcinoma	A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases.	DOVES_relaxed.owl
MONDO:0006871	biolink:NamedThing	non-gestational choriocarcinoma	A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis.	DOVES_relaxed.owl
MONDO:0020552	biolink:NamedThing	placental site trophoblastic tumor	Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage.	DOVES_relaxed.owl
MONDO:0003952	biolink:NamedThing	adult central nervous system choriocarcinoma	A choriocarcinoma of the central nervous system that occurs in an adult.	DOVES_relaxed.owl
MONDO:0003522	biolink:NamedThing	male orgasm disorder	Persistent delay or absence in orgasm not accounted for by a medical reason.	DOVES_relaxed.owl
MONDO:0004258	biolink:NamedThing	female orgasmic disorder	A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse.	DOVES_relaxed.owl
MONDO:0003524	biolink:NamedThing	gastric gastrin-producing neuroendocrine tumor	A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome.	DOVES_relaxed.owl
MONDO:0004411	biolink:NamedThing	duodenal gastrin-producing neuroendocrine tumor	A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm.	DOVES_relaxed.owl
MONDO:0006227	biolink:NamedThing	gastric neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic.	DOVES_relaxed.owl
MONDO:0018742	biolink:NamedThing	familial gastric type 1 neuroendocrine tumor		DOVES_relaxed.owl
MONDO:0024639	biolink:NamedThing	gastric enterochromaffin cell serotonin-producing neuroendocrine tumor	A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome.	DOVES_relaxed.owl
MONDO:0024642	biolink:NamedThing	gastric neuroendocrine tumor G2	A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.	DOVES_relaxed.owl
MONDO:0003530	biolink:NamedThing	aggressive digital papillary adenocarcinoma		DOVES_relaxed.owl
MONDO:0044789	biolink:NamedThing	digital papillary eccrine carcinoma	An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs.	DOVES_relaxed.owl
MONDO:0003531	biolink:NamedThing	papillary eccrine carcinoma		DOVES_relaxed.owl
MONDO:0003532	biolink:NamedThing	breast papillary carcinoma	A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells.	DOVES_relaxed.owl
MONDO:0003874	biolink:NamedThing	ovarian serous surface papillary adenocarcinoma	A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern.	DOVES_relaxed.owl
MONDO:0005075	biolink:NamedThing	thyroid gland papillary carcinoma	A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance.	DOVES_relaxed.owl
MONDO:0006189	biolink:NamedThing	eccrine porocarcinoma	A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites.	DOVES_relaxed.owl
MONDO:0023039	biolink:NamedThing	eccrine mucinous carcinoma		DOVES_relaxed.owl
MONDO:0024245	biolink:NamedThing	ductal eccrine adenocarcinoma		DOVES_relaxed.owl
MONDO:0003934	biolink:NamedThing	breast apocrine carcinoma	An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles.	DOVES_relaxed.owl
MONDO:0024615	biolink:NamedThing	T-cell and NK-cell neoplasm		DOVES_relaxed.owl
MONDO:0005157	biolink:NamedThing	lymphoid neoplasm	A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms.	DOVES_relaxed.owl
MONDO:0005168	biolink:NamedThing	neoplasm of immature B and T cells	A neoplasm arising from immature B and T cells	DOVES_relaxed.owl
MONDO:0006847	biolink:NamedThing	malignant lymphatic vessel tumor	Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels.	DOVES_relaxed.owl
MONDO:0003548	biolink:NamedThing	adenosquamous breast carcinoma	An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation.	DOVES_relaxed.owl
MONDO:0004229	biolink:NamedThing	acantholytic variant squamous cell breast carcinoma	A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern.	DOVES_relaxed.owl
MONDO:0003551	biolink:NamedThing	thymic adenosquamous carcinoma	A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components.	DOVES_relaxed.owl
MONDO:0003555	biolink:NamedThing	Bartholin gland adenosquamous carcinoma	A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells.	DOVES_relaxed.owl
MONDO:0003556	biolink:NamedThing	endometrial adenosquamous carcinoma	A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components.	DOVES_relaxed.owl
MONDO:0003558	biolink:NamedThing	adenosquamous prostate carcinoma	An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones.	DOVES_relaxed.owl
MONDO:0004973	biolink:NamedThing	adenosquamous lung carcinoma	An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells.	DOVES_relaxed.owl
MONDO:0005614	biolink:NamedThing	pancreatic adenosquamous carcinoma	A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma.	DOVES_relaxed.owl
MONDO:0006034	biolink:NamedThing	gastric adenosquamous carcinoma	A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation.	DOVES_relaxed.owl
MONDO:0006157	biolink:NamedThing	colorectal adenosquamous carcinoma	An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.	DOVES_relaxed.owl
MONDO:0006217	biolink:NamedThing	gallbladder adenosquamous carcinoma	A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components.	DOVES_relaxed.owl
MONDO:0006401	biolink:NamedThing	salivary gland adenosquamous carcinoma	A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component.	DOVES_relaxed.owl
MONDO:0003549	biolink:NamedThing	adenosquamous bile duct carcinoma	An adenosquamous carcinoma that arises from the bile ducts.	DOVES_relaxed.owl
MONDO:0004092	biolink:NamedThing	thymic basaloid carcinoma	A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases.	DOVES_relaxed.owl
MONDO:0003553	biolink:NamedThing	ampulla of vater adenosquamous carcinoma	A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.	DOVES_relaxed.owl
MONDO:0003554	biolink:NamedThing	adenosquamous colon carcinoma	An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.	DOVES_relaxed.owl
MONDO:0056817	biolink:NamedThing	rectal adenosquamous carcinoma	An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.	DOVES_relaxed.owl
MONDO:0003581	biolink:NamedThing	ovarian embryonal carcinoma	An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain.	DOVES_relaxed.owl
MONDO:0005440	biolink:NamedThing	embryonal carcinoma	A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum).	DOVES_relaxed.owl
MONDO:0017328	biolink:NamedThing	non-central nervous system-localized embryonal carcinoma		DOVES_relaxed.owl
MONDO:0003989	biolink:NamedThing	polyembryoma of the ovary	A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos.	DOVES_relaxed.owl
MONDO:0004294	biolink:NamedThing	gestational ovarian choriocarcinoma	A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present.	DOVES_relaxed.owl
MONDO:0005544	biolink:NamedThing	hippocampal sclerosis of aging	Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus	DOVES_relaxed.owl
MONDO:0003595	biolink:NamedThing	sclerosing liposarcoma	A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma.	DOVES_relaxed.owl
MONDO:0004510	biolink:NamedThing	inflammatory liposarcoma	A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates.	DOVES_relaxed.owl
MONDO:0006321	biolink:NamedThing	non-functioning adrenal cortex adenoma	An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease.	DOVES_relaxed.owl
MONDO:0021468	biolink:NamedThing	benign neoplasm of adrenal medulla	A benign neoplasm that involves the adrenal medulla.	DOVES_relaxed.owl
MONDO:0003611	biolink:NamedThing	uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease	A benign mesonephric neoplasm that arises from the uterine ligament and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences.	DOVES_relaxed.owl
MONDO:0006149	biolink:NamedThing	clear cell papillary cystadenoma	A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion.	DOVES_relaxed.owl
MONDO:0003614	biolink:NamedThing	intravenous leiomyomatosis	A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins.	DOVES_relaxed.owl
MONDO:0003622	biolink:NamedThing	pancreatic vasoactive intestinal peptide producing tumor	A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome.	DOVES_relaxed.owl
MONDO:0019557	biolink:NamedThing	chilblain lupus	A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.	DOVES_relaxed.owl
MONDO:0004343	biolink:NamedThing	pancreatic acinar cell cystadenocarcinoma	A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course.	DOVES_relaxed.owl
MONDO:0003640	biolink:NamedThing	verruciform xanthoma of skin	A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages.	DOVES_relaxed.owl
MONDO:0004111	biolink:NamedThing	refractory hematologic cancer	A hematologic malignancy that is resistant to treatment.	DOVES_relaxed.owl
MONDO:0006247	biolink:NamedThing	histiocytic and dendritic cell neoplasm	Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0019454	biolink:NamedThing	myelodysplastic syndrome with excess blasts	A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2.	DOVES_relaxed.owl
MONDO:0003650	biolink:NamedThing	mixed hepatoblastoma	A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component.	DOVES_relaxed.owl
MONDO:0003651	biolink:NamedThing	macrotrabecular hepatoblastoma	A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae.	DOVES_relaxed.owl
MONDO:0010687	biolink:NamedThing	nephrolithiasis, X-linked recessive, with renal failure		DOVES_relaxed.owl
MONDO:0003653	biolink:NamedThing	stork bite		DOVES_relaxed.owl
MONDO:0009055	biolink:NamedThing	cutis marmorata telangiectatica congenita	Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.	DOVES_relaxed.owl
MONDO:0012016	biolink:NamedThing	capillary malformation-arteriovenous malformation syndrome	This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.	DOVES_relaxed.owl
MONDO:0003654	biolink:NamedThing	childhood parosteal osteosarcoma	A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent.	DOVES_relaxed.owl
MONDO:0004176	biolink:NamedThing	childhood extraosseous osteosarcoma	An osteosarcoma arising from the soft tissue, and occurring during childhood.	DOVES_relaxed.owl
MONDO:0006817	biolink:NamedThing	juxtacortical osteosarcoma	A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent.	DOVES_relaxed.owl
MONDO:0003656	biolink:NamedThing	hemoglobinuria	A laboratory test result which indicates free hemoglobin in the urine.	DOVES_relaxed.owl
MONDO:0010644	biolink:NamedThing	proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis		DOVES_relaxed.owl
MONDO:0003664	biolink:NamedThing	hemolytic anemia	Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies.	DOVES_relaxed.owl
MONDO:0004961	biolink:NamedThing	stage I endometrioid carcinoma	Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix.	DOVES_relaxed.owl
MONDO:0004962	biolink:NamedThing	stage II endometrioid carcinoma	Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus.	DOVES_relaxed.owl
MONDO:0006192	biolink:NamedThing	endometrial endometrioid adenocarcinoma	A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma.	DOVES_relaxed.owl
MONDO:0003670	biolink:NamedThing	posteroinferior myocardial infarction	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart.	DOVES_relaxed.owl
MONDO:0005068	biolink:NamedThing	myocardial infarction	Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.	DOVES_relaxed.owl
MONDO:0003672	biolink:NamedThing	posterior myocardial infarction		DOVES_relaxed.owl
MONDO:0003673	biolink:NamedThing	apical myocardial infarction	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart.	DOVES_relaxed.owl
MONDO:0003675	biolink:NamedThing	posterolateral myocardial infarction	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart.	DOVES_relaxed.owl
MONDO:0003676	biolink:NamedThing	inferolateral myocardial infarct	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart.	DOVES_relaxed.owl
MONDO:0003677	biolink:NamedThing	lateral myocardial infarction		DOVES_relaxed.owl
MONDO:0003678	biolink:NamedThing	silent myocardial infarction	A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings.	DOVES_relaxed.owl
MONDO:0003679	biolink:NamedThing	anteroseptal myocardial infarction		DOVES_relaxed.owl
MONDO:0004876	biolink:NamedThing	myocardial stunning	Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity.	DOVES_relaxed.owl
MONDO:0006803	biolink:NamedThing	inferior myocardial infarction	Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery.	DOVES_relaxed.owl
MONDO:0021505	biolink:NamedThing	benign neoplasm of endocardium	A benign neoplasm that involves the endocardium.	DOVES_relaxed.owl
MONDO:0007705	biolink:NamedThing	Heinz body anemia		DOVES_relaxed.owl
MONDO:0010891	biolink:NamedThing	lethal hemolytic anemia-genital anomalies syndrome	Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.	DOVES_relaxed.owl
MONDO:0012967	biolink:NamedThing	hemolytic anemia due to adenylate kinase deficiency	Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.	DOVES_relaxed.owl
MONDO:0017164	biolink:NamedThing	hemolytic disease of the newborn with Kell alloimmunization		DOVES_relaxed.owl
MONDO:0017319	biolink:NamedThing	hereditary elliptocytosis	Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.	DOVES_relaxed.owl
MONDO:0020102	biolink:NamedThing	hereditary stomatocytosis		DOVES_relaxed.owl
MONDO:0020108	biolink:NamedThing	autoimmune hemolytic anemia	Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia.	DOVES_relaxed.owl
MONDO:0020457	biolink:NamedThing	6-phosphogluconate dehydrogenase deficiency		DOVES_relaxed.owl
MONDO:0021559	biolink:NamedThing	non-autoimmune hemolytic anemia	Hemolytic anemia that is not mediated by immune mechanisms.	DOVES_relaxed.owl
MONDO:0003690	biolink:NamedThing	adult anaplastic ependymoma	An anaplastic ependymoma occurring in adults.	DOVES_relaxed.owl
MONDO:0016700	biolink:NamedThing	anaplastic ependymoma	Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.	DOVES_relaxed.owl
MONDO:0003692	biolink:NamedThing	adult malignant mesenchymoma	A malignant mesenchymoma occurring in adults.	DOVES_relaxed.owl
MONDO:0003693	biolink:NamedThing	clear cell cystadenofibroma	A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells.	DOVES_relaxed.owl
MONDO:0003886	biolink:NamedThing	mucinous cystadenofibroma	A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.	DOVES_relaxed.owl
MONDO:0004185	biolink:NamedThing	ovarian serous cystadenofibroma	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma.	DOVES_relaxed.owl
MONDO:0004214	biolink:NamedThing	ovarian endometrioid cystadenofibroma	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma.	DOVES_relaxed.owl
MONDO:0004501	biolink:NamedThing	fallopian tube cystadenofibroma	A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder.	DOVES_relaxed.owl
MONDO:0003694	biolink:NamedThing	ovarian clear cell cystadenofibroma	A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures.	DOVES_relaxed.owl
MONDO:0003697	biolink:NamedThing	non-invasive verrucous carcinoma of the penis		DOVES_relaxed.owl
MONDO:0020649	biolink:NamedThing	warty carcinoma of the penis	A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases.	DOVES_relaxed.owl
MONDO:0003701	biolink:NamedThing	thyroid gland diffuse sclerosing papillary carcinoma	A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration.	DOVES_relaxed.owl
MONDO:0004101	biolink:NamedThing	multicentric papillary thyroid carcinoma	A papillary carcinoma arising from the thyroid gland from multiple foci.	DOVES_relaxed.owl
MONDO:0004102	biolink:NamedThing	columnar cell variant thyroid gland papillary carcinoma	A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells.	DOVES_relaxed.owl
MONDO:0004103	biolink:NamedThing	tall cell variant thyroid gland papillary carcinoma	A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present.	DOVES_relaxed.owl
MONDO:0008567	biolink:NamedThing	thyroid cancer, nonmedullary, 1		DOVES_relaxed.owl
MONDO:0004320	biolink:NamedThing	adult infiltrating astrocytic neoplasm		DOVES_relaxed.owl
MONDO:0003870	biolink:NamedThing	childhood brainstem astrocytoma	An astrocytoma that arises from the brain stem and occurs during childhood.	DOVES_relaxed.owl
MONDO:0006229	biolink:NamedThing	gastric small cell neuroendocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells.	DOVES_relaxed.owl
MONDO:0006348	biolink:NamedThing	pancreatic small cell neuroendocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells.	DOVES_relaxed.owl
MONDO:0003712	biolink:NamedThing	angiokeratoma of mibelli		DOVES_relaxed.owl
MONDO:0003713	biolink:NamedThing	angiokeratoma circumscriptum		DOVES_relaxed.owl
MONDO:0004163	biolink:NamedThing	bladder urachal urothelial carcinoma	A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium.	DOVES_relaxed.owl
MONDO:0004056	biolink:NamedThing	bladder papillary urothelial carcinoma	An invasive or non-invasive papillary transitional cell carcinoma of the urinary bladder. It is classified as low - or high-grade. -- 2003	DOVES_relaxed.owl
MONDO:0003723	biolink:NamedThing	blunt duct adenosis of breast	Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia.	DOVES_relaxed.owl
MONDO:0003726	biolink:NamedThing	apocrine adenosis of breast	Breast adenosis characterized by the presence of extensive apocrine metaplasia.	DOVES_relaxed.owl
MONDO:0004181	biolink:NamedThing	breast adenomyoepithelial adenosis	An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present.	DOVES_relaxed.owl
MONDO:0004531	biolink:NamedThing	sclerosing adenosis of breast	Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present.	DOVES_relaxed.owl
MONDO:0004534	biolink:NamedThing	microglandular adenosis of breast	A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia.	DOVES_relaxed.owl
MONDO:0003729	biolink:NamedThing	aleukemic leukemia cutis	Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process.	DOVES_relaxed.owl
MONDO:0004155	biolink:NamedThing	adult central nervous system embryonal carcinoma	A embryonal carcinoma of the central nervous system that occurs in an adult.	DOVES_relaxed.owl
MONDO:0004406	biolink:NamedThing	adult central nervous system mixed germ cell tumor	A mixed germ cell tumor of central nervous system that occurs in an adult.	DOVES_relaxed.owl
MONDO:0003732	biolink:NamedThing	adult central nervous system mature teratoma	A central nervous system mature teratoma that occurs in an adult.	DOVES_relaxed.owl
MONDO:0003734	biolink:NamedThing	adult central nervous system immature teratoma		DOVES_relaxed.owl
MONDO:0004016	biolink:NamedThing	pineal region mature teratoma		DOVES_relaxed.owl
MONDO:0003820	biolink:NamedThing	mature ovarian teratoma	An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.	DOVES_relaxed.owl
MONDO:0004467	biolink:NamedThing	mature gastric teratoma	A benign teratoma that arises from the stomach.	DOVES_relaxed.owl
MONDO:0003736	biolink:NamedThing	cancerophobia	An overwhelming, irrational, and persistent fear of being diagnosed with cancer.	DOVES_relaxed.owl
MONDO:0003740	biolink:NamedThing	AIDS phobia	An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome.	DOVES_relaxed.owl
MONDO:0003741	biolink:NamedThing	juvenile type testicular granulosa cell tumor	A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells.	DOVES_relaxed.owl
MONDO:0004548	biolink:NamedThing	adult type testicular granulosa cell tumor	A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases.	DOVES_relaxed.owl
MONDO:0003878	biolink:NamedThing	malignant choroid melanoma	A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis.	DOVES_relaxed.owl
MONDO:0003910	biolink:NamedThing	mixed cell uveal melanoma	A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells.	DOVES_relaxed.owl
MONDO:0003927	biolink:NamedThing	posterior uveal melanoma		DOVES_relaxed.owl
MONDO:0004062	biolink:NamedThing	intermediate cell type uveal melanoma	Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.	DOVES_relaxed.owl
MONDO:0004365	biolink:NamedThing	necrotic uveal melanoma	A uveal melanoma characterized by the presence of tumor cell necrosis.	DOVES_relaxed.owl
MONDO:0006200	biolink:NamedThing	epithelioid cell uveal melanoma	A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes.	DOVES_relaxed.owl
MONDO:0003745	biolink:NamedThing	choroid spindle cell melanoma	A spindle cell melanoma that involves the optic choroid.	DOVES_relaxed.owl
MONDO:0004188	biolink:NamedThing	iris spindle cell melanoma	A spindle cell melanoma that involves the iris.	DOVES_relaxed.owl
MONDO:0003913	biolink:NamedThing	choroid mixed cell melanoma	A mixed cell uveal melanoma that involves the optic choroid.	DOVES_relaxed.owl
MONDO:0004065	biolink:NamedThing	intermediate cell type choroid melanoma	Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.	DOVES_relaxed.owl
MONDO:0004085	biolink:NamedThing	choroid epithelioid cell melanoma	A epithelioid cell melanoma that involves the optic choroid.	DOVES_relaxed.owl
MONDO:0004364	biolink:NamedThing	choroid necrotic melanoma		DOVES_relaxed.owl
MONDO:0003746	biolink:NamedThing	ciliary body spindle cell melanoma	A spindle cell melanoma that involves the ciliary body.	DOVES_relaxed.owl
MONDO:0003912	biolink:NamedThing	malignant ciliary body melanoma	A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor.	DOVES_relaxed.owl
MONDO:0003911	biolink:NamedThing	ciliary body mixed cell melanoma	A mixed cell uveal melanoma that involves the ciliary body.	DOVES_relaxed.owl
MONDO:0004066	biolink:NamedThing	intermediate cell type ciliary body melanoma	Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.	DOVES_relaxed.owl
MONDO:0004086	biolink:NamedThing	ciliary body epithelioid cell melanoma	A epithelioid cell melanoma that involves the ciliary body.	DOVES_relaxed.owl
MONDO:0003747	biolink:NamedThing	telangiectatic glomangioma	A glomus tumor characterized by huge vascular channel formations.	DOVES_relaxed.owl
MONDO:0024302	biolink:NamedThing	internal hirudiniasis	A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx.	DOVES_relaxed.owl
MONDO:0020577	biolink:NamedThing	childhood gonadal germ cell tumor	A germ cell tumor that arises from the testis or ovary and occurs during childhood.	DOVES_relaxed.owl
MONDO:0003752	biolink:NamedThing	frontal sinus Schneiderian papilloma	A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma.	DOVES_relaxed.owl
MONDO:0003923	biolink:NamedThing	ethmoid sinus Schneiderian papilloma	A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma.	DOVES_relaxed.owl
MONDO:0004327	biolink:NamedThing	sphenoid sinus Schneiderian papilloma	A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma.	DOVES_relaxed.owl
MONDO:0004457	biolink:NamedThing	maxillary sinus Schneiderian papilloma	A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma.	DOVES_relaxed.owl
MONDO:0003905	biolink:NamedThing	ovarian yolk sac tumor, glandular pattern	A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures.	DOVES_relaxed.owl
MONDO:0003906	biolink:NamedThing	ovarian yolk sac tumor, hepatoid pattern	A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue.	DOVES_relaxed.owl
MONDO:0003907	biolink:NamedThing	ovarian yolk sac tumor, polyvesicular vitelline pattern	A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues.	DOVES_relaxed.owl
MONDO:0004330	biolink:NamedThing	leptomeningeal sarcoma	A sarcoma arising from the leptomeninges.	DOVES_relaxed.owl
MONDO:0003764	biolink:NamedThing	pediatric leptomeningeal melanoma	A melanoma that arises from leptomeningeal melanocytes and occurs in childhood.	DOVES_relaxed.owl
MONDO:0003765	biolink:NamedThing	adult leptomeningeal melanoma	A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood.	DOVES_relaxed.owl
MONDO:0003769	biolink:NamedThing	herpetic gastritis	Gastritis resulting from herpes virus.	DOVES_relaxed.owl
MONDO:0004609	biolink:NamedThing	herpes simplex infectious disease	A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)	DOVES_relaxed.owl
MONDO:0005187	biolink:NamedThing	human herpesvirus 8 infection	An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma.	DOVES_relaxed.owl
MONDO:0005608	biolink:NamedThing	varicella zoster infection	A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox.	DOVES_relaxed.owl
MONDO:0005949	biolink:NamedThing	roseolovirus infectious disease	Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children.	DOVES_relaxed.owl
MONDO:0042971	biolink:NamedThing	congenital herpes virus infection	An infectious embryofetopathy caused by infection with Herpesviridae.	DOVES_relaxed.owl
MONDO:0003773	biolink:NamedThing	intracerebral cystic meningioma	A cystic meningioma that grows within the cerebral hemispheres.	DOVES_relaxed.owl
MONDO:0003774	biolink:NamedThing	cerebral convexity meningioma	A meningioma that affects the cerebral sulcus.	DOVES_relaxed.owl
MONDO:0004022	biolink:NamedThing	parasagittal meningioma	A meningioma that affects the superior sagittal sinus and invades the parasagittal angle.	DOVES_relaxed.owl
MONDO:0003776	biolink:NamedThing	renal pelvis inverted papilloma	A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue.	DOVES_relaxed.owl
MONDO:0004040	biolink:NamedThing	urinary bladder inverted papilloma	A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria.	DOVES_relaxed.owl
MONDO:0004042	biolink:NamedThing	urethra inverted papilloma	A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue.	DOVES_relaxed.owl
MONDO:0004043	biolink:NamedThing	ureter inverted papilloma	A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria.	DOVES_relaxed.owl
MONDO:0850067	biolink:NamedThing	immune deficiency due to impaired neutrophil phagocytosis and migration		DOVES_relaxed.owl
MONDO:0003782	biolink:NamedThing	uterine corpus epithelioid leiomyosarcoma	A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.	DOVES_relaxed.owl
MONDO:0003928	biolink:NamedThing	uterine corpus myxoid leiomyosarcoma	A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.	DOVES_relaxed.owl
MONDO:0003966	biolink:NamedThing	testicular monophasic choriocarcinoma	A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent.	DOVES_relaxed.owl
MONDO:0004520	biolink:NamedThing	intratubular embryonal carcinoma	Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)	DOVES_relaxed.owl
MONDO:0003789	biolink:NamedThing	hereditary papillary renal cell carcinoma	A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene.	DOVES_relaxed.owl
MONDO:0008734	biolink:NamedThing	adrenocortical carcinoma, hereditary	An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0003790	biolink:NamedThing	prostatic urethra urothelial carcinoma	An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra.	DOVES_relaxed.owl
MONDO:0003791	biolink:NamedThing	prostatic urethral cancer	A male urethral cancer that involves the prostatic urethra.	DOVES_relaxed.owl
MONDO:0004197	biolink:NamedThing	male urethral cancer	A cancer involving a male urethra.	DOVES_relaxed.owl
MONDO:0004516	biolink:NamedThing	bulbomembranous urethral cancer		DOVES_relaxed.owl
MONDO:0003800	biolink:NamedThing	conventional malignant hemangiopericytoma	A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity.	DOVES_relaxed.owl
MONDO:0003856	biolink:NamedThing	adult malignant hemangiopericytoma	A malignant hemangiopericytoma occurring in the adult population.	DOVES_relaxed.owl
MONDO:0004344	biolink:NamedThing	childhood malignant hemangiopericytoma	A malignant hemangiopericytoma occurring in childhood.	DOVES_relaxed.owl
MONDO:0021452	biolink:NamedThing	benign neoplasm of cornea	A benign neoplasm that involves the cornea.	DOVES_relaxed.owl
MONDO:0003810	biolink:NamedThing	bladder diffuse clear cell adenocarcinoma	A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern.	DOVES_relaxed.owl
MONDO:0004444	biolink:NamedThing	bladder tubulo-cystic clear cell adenocarcinoma	A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern.	DOVES_relaxed.owl
MONDO:0004445	biolink:NamedThing	bladder papillary clear cell adenocarcinoma	A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern.	DOVES_relaxed.owl
MONDO:0003818	biolink:NamedThing	childhood mature teratoma of the ovary	A mature teratoma that arises from the ovary and occurs in children.	DOVES_relaxed.owl
MONDO:0003851	biolink:NamedThing	ovarian fetiform teratoma	A rare type of teratoma that arises from the ovary and resembles a malformed fetus.	DOVES_relaxed.owl
MONDO:0003852	biolink:NamedThing	ovarian solid teratoma	A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present.	DOVES_relaxed.owl
MONDO:0003822	biolink:NamedThing	non-invasive bladder papillary urothelial neoplasm	A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas.	DOVES_relaxed.owl
MONDO:0003826	biolink:NamedThing	mediastinum seminoma	An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors.	DOVES_relaxed.owl
MONDO:0021283	biolink:NamedThing	malignant teratoma of mediastinum	A malignant teratoma that involves the mediastinum.	DOVES_relaxed.owl
MONDO:0003827	biolink:NamedThing	transient hypogammaglobulinemia	A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels.	DOVES_relaxed.owl
MONDO:0020479	biolink:NamedThing	pituitary gigantism	The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age.	DOVES_relaxed.owl
MONDO:0006301	biolink:NamedThing	metanephric adenoma	A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients.	DOVES_relaxed.owl
MONDO:0003830	biolink:NamedThing	type 1 papillary adenoma of the kidney		DOVES_relaxed.owl
MONDO:0003831	biolink:NamedThing	type 2 papillary adenoma of the kidney		DOVES_relaxed.owl
MONDO:0003834	biolink:NamedThing	gastric cardia carcinoma	A carcinoma that arises from epithelial cells of the cardia of stomach.	DOVES_relaxed.owl
MONDO:0003970	biolink:NamedThing	gastric fundus carcinoma	A carcinoma that arises from epithelial cells of the fundus of stomach.	DOVES_relaxed.owl
MONDO:0003971	biolink:NamedThing	gastric pylorus carcinoma	A carcinoma that arises from the pylorus.	DOVES_relaxed.owl
MONDO:0003972	biolink:NamedThing	gastric body carcinoma	A carcinoma that arises from epithelial cells of the body of stomach.	DOVES_relaxed.owl
MONDO:0017784	biolink:NamedThing	Epstein-Barr virus-associated gastric carcinoma	Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.	DOVES_relaxed.owl
MONDO:0018503	biolink:NamedThing	carcinoma of stomach, salivary gland type		DOVES_relaxed.owl
MONDO:0018504	biolink:NamedThing	undifferentiated carcinoma of stomach	A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation.	DOVES_relaxed.owl
MONDO:0021294	biolink:NamedThing	carcinoma in situ of gastric cardia	A in situ carcinoma that involves the cardia of stomach.	DOVES_relaxed.owl
MONDO:0003836	biolink:NamedThing	malignant thyroid stimulating hormone producing neoplasm of pituitary gland	A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin.	DOVES_relaxed.owl
MONDO:0003837	biolink:NamedThing	TSH producing pituitary tumor	An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin.	DOVES_relaxed.owl
MONDO:0019611	biolink:NamedThing	TSH-secreting pituitary adenoma	A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.	DOVES_relaxed.owl
MONDO:0016035	biolink:NamedThing	Nelson syndrome	A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation.	DOVES_relaxed.owl
MONDO:0017822	biolink:NamedThing	mixed functioning pituitary adenoma		DOVES_relaxed.owl
MONDO:0019612	biolink:NamedThing	functioning gonadotropic adenoma	Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).	DOVES_relaxed.owl
MONDO:0003839	biolink:NamedThing	ovarian mucinous adenocarcinofibroma	A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material.	DOVES_relaxed.owl
MONDO:0006123	biolink:NamedThing	cardiac rhabdomyoma	A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis.	DOVES_relaxed.owl
MONDO:0021509	biolink:NamedThing	benign neoplasm of myocardium	A benign neoplasm that involves the myocardium.	DOVES_relaxed.owl
MONDO:0003948	biolink:NamedThing	cerebral hemangioma	A hemangioma arising from the cerebral hemisphere.	DOVES_relaxed.owl
MONDO:0003845	biolink:NamedThing	corpus callosum lipoma	A rare benign adipose tissue neoplasm of the corpus callosum.	DOVES_relaxed.owl
MONDO:0003848	biolink:NamedThing	ectopic thymus	A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution.	DOVES_relaxed.owl
MONDO:0004195	biolink:NamedThing	thymic dysplasia	The developmental arrest and architectural distortion of the thymus that results in immunodeficiency.	DOVES_relaxed.owl
MONDO:0003849	biolink:NamedThing	clivus chordoma	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.	DOVES_relaxed.owl
MONDO:0003850	biolink:NamedThing	clivus chondroid chordoma	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage.	DOVES_relaxed.owl
MONDO:0003858	biolink:NamedThing	anterior optic tract meningioma	A meningioma that affects the anterior visual pathway.	DOVES_relaxed.owl
MONDO:0003862	biolink:NamedThing	melanotic psammomatous malignant peripheral nerve sheath tumor	A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies.	DOVES_relaxed.owl
MONDO:0003864	biolink:NamedThing	chronic lymphocytic leukemia/small lymphocytic lymphoma	An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood.	DOVES_relaxed.owl
MONDO:0003867	biolink:NamedThing	diffuse meningeal melanocytosis	A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)	DOVES_relaxed.owl
MONDO:0003868	biolink:NamedThing	anterior foramen magnum meningioma	A meningioma that affects the anterior foramen magnum.	DOVES_relaxed.owl
MONDO:0003921	biolink:NamedThing	posterior foramen magnum meningioma	A meningioma that affects the posterior foramen magnum.	DOVES_relaxed.owl
MONDO:0006033	biolink:NamedThing	diffuse intrinsic pontine glioma	A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis.	DOVES_relaxed.owl
MONDO:0018368	biolink:NamedThing	primary peritoneal serous/papillary carcinoma		DOVES_relaxed.owl
MONDO:0003888	biolink:NamedThing	childhood testicular mixed embryonal carcinoma and teratoma	A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components.	DOVES_relaxed.owl
MONDO:0003889	biolink:NamedThing	infiltrating bladder urothelial carcinoma, clear cell variant	An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells.	DOVES_relaxed.owl
MONDO:0003890	biolink:NamedThing	infiltrating bladder urothelial carcinoma	An invasive transitional cell carcinoma that arises from the urinary bladder urothelium.	DOVES_relaxed.owl
MONDO:0004057	biolink:NamedThing	micropapillary variant infiltrating bladder urothelial carcinoma	An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003	DOVES_relaxed.owl
MONDO:0004278	biolink:NamedThing	infiltrating bladder urothelial carcinoma sarcomatoid variant	An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features.	DOVES_relaxed.owl
MONDO:0004299	biolink:NamedThing	infiltrating bladder lymphoepithelioma-like carcinoma		DOVES_relaxed.owl
MONDO:0004415	biolink:NamedThing	lipid-cell variant infiltrating bladder urothelial carcinoma		DOVES_relaxed.owl
MONDO:0004416	biolink:NamedThing	plasmacytoid variant infiltrating bladder urothelial carcinoma		DOVES_relaxed.owl
MONDO:0004417	biolink:NamedThing	nested variant infiltrating bladder urothelial carcinoma		DOVES_relaxed.owl
MONDO:0004418	biolink:NamedThing	microcystic variant infiltrating bladder urothelial carcinoma		DOVES_relaxed.owl
MONDO:0004419	biolink:NamedThing	lymphoma-like variant infiltrating bladder urothelial carcinoma		DOVES_relaxed.owl
MONDO:0003930	biolink:NamedThing	non-invasive bladder urothelial carcinoma	Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)	DOVES_relaxed.owl
MONDO:0003894	biolink:NamedThing	mediastinal melanocytic neurilemmoma	A melanotic schwannoma that affects the mediastinum.	DOVES_relaxed.owl
MONDO:0003895	biolink:NamedThing	periosteal osteogenic sarcoma	An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma.	DOVES_relaxed.owl
MONDO:0006246	biolink:NamedThing	high grade surface osteosarcoma	A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.	DOVES_relaxed.owl
MONDO:0003899	biolink:NamedThing	adult myxoid chondrosarcoma	A myxoid chondrosarcoma occurring in adults.	DOVES_relaxed.owl
MONDO:0003903	biolink:NamedThing	benign vaginal mixed tumor	A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells.	DOVES_relaxed.owl
MONDO:0003904	biolink:NamedThing	lung occult squamous cell carcinoma	A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.	DOVES_relaxed.owl
MONDO:0004063	biolink:NamedThing	intermediate cell type iris melanoma	Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.	DOVES_relaxed.owl
MONDO:0003915	biolink:NamedThing	cortical thymoma	A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently.	DOVES_relaxed.owl
MONDO:0006458	biolink:NamedThing	thymoma type B3	Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases.	DOVES_relaxed.owl
MONDO:0006459	biolink:NamedThing	thymoma type B1	A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors.	DOVES_relaxed.owl
MONDO:0003922	biolink:NamedThing	ovarian clear cell malignant adenofibroma	A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma.	DOVES_relaxed.owl
MONDO:0006075	biolink:NamedThing	adrenal gland myelolipoma	A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues.	DOVES_relaxed.owl
MONDO:0008233	biolink:NamedThing	pheochromocytoma		DOVES_relaxed.owl
MONDO:0011576	biolink:NamedThing	familial hyperaldosteronism type II	Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.	DOVES_relaxed.owl
MONDO:0003929	biolink:NamedThing	vestibular micropapillomatosis	A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva.	DOVES_relaxed.owl
MONDO:0018381	biolink:NamedThing	osteochondrosis	A condition that is characterized by defective bone growth that affects the growth centers of bone.	DOVES_relaxed.owl
MONDO:0018382	biolink:NamedThing	epiphysiolysis of the hip	Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).	DOVES_relaxed.owl
MONDO:0022983	biolink:NamedThing	Dieterich disease		DOVES_relaxed.owl
MONDO:0003941	biolink:NamedThing	classic variant of chromophobe renal cell carcinoma		DOVES_relaxed.owl
MONDO:0003942	biolink:NamedThing	eosinophilic variant of chromophobe renal cell carcinoma		DOVES_relaxed.owl
MONDO:0004461	biolink:NamedThing	vaginal tubulovillous adenoma	An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern.	DOVES_relaxed.owl
MONDO:0003947	biolink:NamedThing	hyper-IgM syndrome	A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.	DOVES_relaxed.owl
MONDO:0018037	biolink:NamedThing	hyper-IgE syndrome	A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.	DOVES_relaxed.owl
MONDO:0003950	biolink:NamedThing	nipple carcinoma	A carcinoma that arises from epithelial cells of the nipple	DOVES_relaxed.owl
MONDO:0004376	biolink:NamedThing	infiltrating nipple syringomatous adenoma	An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported.	DOVES_relaxed.owl
MONDO:0021301	biolink:NamedThing	adenoma of nipple	A adenoma that involves the nipple.	DOVES_relaxed.owl
MONDO:0003982	biolink:NamedThing	bilateral breast carcinoma	Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner.	DOVES_relaxed.owl
MONDO:0004438	biolink:NamedThing	sporadic breast cancer	A carcinoma that arises from the breast and is not caused by inherited genetic mutations.	DOVES_relaxed.owl
MONDO:0005628	biolink:NamedThing	male breast carcinoma	A malignant neoplasm involving the male breast.	DOVES_relaxed.owl
MONDO:0006739	biolink:NamedThing	Ehrlich tumor carcinoma	A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms.	DOVES_relaxed.owl
MONDO:0045059	biolink:NamedThing	cribriform carcinoma of breast		DOVES_relaxed.owl
MONDO:0056813	biolink:NamedThing	hormone-resistant breast carcinoma	Breast carcinoma that does not respond to hormone therapy.	DOVES_relaxed.owl
MONDO:0003955	biolink:NamedThing	juvenile breast papillomatosis	A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present.	DOVES_relaxed.owl
MONDO:0003957	biolink:NamedThing	adult pineoblastoma	A pineoblastoma occurring in adults.	DOVES_relaxed.owl
MONDO:0004128	biolink:NamedThing	lung occult large cell carcinoma	A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.	DOVES_relaxed.owl
MONDO:0004237	biolink:NamedThing	large cell carcinoma with rhabdoid phenotype	A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells.	DOVES_relaxed.owl
MONDO:0006283	biolink:NamedThing	lymphoepithelioma-like lung carcinoma	A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration.	DOVES_relaxed.owl
MONDO:0024386	biolink:NamedThing	large cell lung carcinoma, clear cell variant	A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen.	DOVES_relaxed.owl
MONDO:0004100	biolink:NamedThing	lung mixed small cell and squamous cell carcinoma	A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma.	DOVES_relaxed.owl
MONDO:0006041	biolink:NamedThing	lung carcinoid tumor	A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis.	DOVES_relaxed.owl
MONDO:0043101	biolink:NamedThing	hypothalamic dysfunction	Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients havevary depending on the hormones missing.Anumber of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction.	DOVES_relaxed.owl
MONDO:0003967	biolink:NamedThing	synchronous multifocal osteogenic sarcoma	A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis.	DOVES_relaxed.owl
MONDO:0003968	biolink:NamedThing	asynchronous multifocal osteogenic sarcoma	A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas.	DOVES_relaxed.owl
MONDO:0003973	biolink:NamedThing	tubular variant testicular seminoma	A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes.	DOVES_relaxed.owl
MONDO:0004168	biolink:NamedThing	cribriform variant testicular seminoma	A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes.	DOVES_relaxed.owl
MONDO:0004541	biolink:NamedThing	pseudoglandular variant testicular seminoma	A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes.	DOVES_relaxed.owl
MONDO:0020513	biolink:NamedThing	spermatocytic seminoma	A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males.	DOVES_relaxed.owl
MONDO:0003983	biolink:NamedThing	synchronous bilateral breast carcinoma	Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast.	DOVES_relaxed.owl
MONDO:0021090	biolink:NamedThing	lipid-rich breast carcinoma	An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells.	DOVES_relaxed.owl
MONDO:0015863	biolink:NamedThing	polyembryoma	Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known.	DOVES_relaxed.owl
MONDO:0003994	biolink:NamedThing	botryoid-type embryonal rhabdomyosarcoma of the vagina	A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.	DOVES_relaxed.owl
MONDO:0004012	biolink:NamedThing	adult botryoid rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.	DOVES_relaxed.owl
MONDO:0003993	biolink:NamedThing	childhood vagina botryoid rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.	DOVES_relaxed.owl
MONDO:0004013	biolink:NamedThing	adult vagina botryoid embryonal rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults.	DOVES_relaxed.owl
MONDO:0003999	biolink:NamedThing	juvenile pilocytic astrocytoma	A pilocytic astrocytoma that occurs during adolescence.	DOVES_relaxed.owl
MONDO:0010877	biolink:NamedThing	Charcot-Marie-Tooth disease type 5	Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.	DOVES_relaxed.owl
MONDO:0011002	biolink:NamedThing	neuropathy, hereditary motor and sensory, type 6A	Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene.	DOVES_relaxed.owl
MONDO:0011468	biolink:NamedThing	hereditary motor and sensory neuropathy, Okinawa type	Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.	DOVES_relaxed.owl
MONDO:0011534	biolink:NamedThing	Charcot-Marie-Tooth disease type 4G	Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.	DOVES_relaxed.owl
MONDO:0011633	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2C	Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.	DOVES_relaxed.owl
MONDO:0014671	biolink:NamedThing	neuropathy, hereditary motor and sensory, type 6B	Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.	DOVES_relaxed.owl
MONDO:0004008	biolink:NamedThing	flat ductal epithelial atypia	A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia.	DOVES_relaxed.owl
MONDO:0006484	biolink:NamedThing	usual ductal breast hyperplasia	A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells.	DOVES_relaxed.owl
MONDO:0010105	biolink:NamedThing	teratoma, pineal		DOVES_relaxed.owl
MONDO:0004048	biolink:NamedThing	immature gastric teratoma	A malignant teratoma that arises from the stomach.	DOVES_relaxed.owl
MONDO:0004140	biolink:NamedThing	intermediate malignant teratoma	An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues.	DOVES_relaxed.owl
MONDO:0024857	biolink:NamedThing	immature extragonadal teratoma	An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary.	DOVES_relaxed.owl
MONDO:0020652	biolink:NamedThing	immature teratoma of vulva		DOVES_relaxed.owl
MONDO:0004026	biolink:NamedThing	skin tag	A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction.	DOVES_relaxed.owl
MONDO:0005348	biolink:NamedThing	keloid	An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively.	DOVES_relaxed.owl
MONDO:0006549	biolink:NamedThing	fibroepithelial polyp of the anus	A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium.	DOVES_relaxed.owl
MONDO:0006620	biolink:NamedThing	vulva fibroepithelial polyp	A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia.	DOVES_relaxed.owl
MONDO:0060768	biolink:NamedThing	gingival fibroepithelial polyp	A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma.	DOVES_relaxed.owl
MONDO:0060774	biolink:NamedThing	vaginal fibroepithelial polyp	A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells.	DOVES_relaxed.owl
MONDO:0060777	biolink:NamedThing	cervical fibroepithelial polyp	A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium.	DOVES_relaxed.owl
MONDO:0020659	biolink:NamedThing	upper tract urothelial carcinoma		DOVES_relaxed.owl
MONDO:0004035	biolink:NamedThing	glomangiomatosis	A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces.	DOVES_relaxed.owl
MONDO:0004049	biolink:NamedThing	combat disorder	Neurotic reactions to unusual, severe, or overwhelming military stress.	DOVES_relaxed.owl
MONDO:0004052	biolink:NamedThing	rectal cloacogenic carcinoma	A carcinoma that arises from the transitional zone at the junction of the rectum and anus.	DOVES_relaxed.owl
MONDO:0004054	biolink:NamedThing	acute canaliculitis		DOVES_relaxed.owl
MONDO:0004060	biolink:NamedThing	peripheral epithelioid sarcoma	An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain.	DOVES_relaxed.owl
MONDO:0004244	biolink:NamedThing	proximal-type epithelioid sarcoma	An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma.	DOVES_relaxed.owl
MONDO:0004521	biolink:NamedThing	adult epithelioid sarcoma	An epithelioid sarcoma occurring in adults.	DOVES_relaxed.owl
MONDO:0011308	biolink:NamedThing	GRACILE syndrome	GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).	DOVES_relaxed.owl
MONDO:0015283	biolink:NamedThing	maternally-inherited cardiomyopathy and hearing loss	Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.	DOVES_relaxed.owl
MONDO:0018337	biolink:NamedThing	severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency		DOVES_relaxed.owl
MONDO:0004074	biolink:NamedThing	ovarian mucinous cystadenofibroma	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.	DOVES_relaxed.owl
MONDO:0004079	biolink:NamedThing	lung mucous gland adenoma	A benign adenomatous neoplasm that arises from the mucous glands in the bronchus.	DOVES_relaxed.owl
MONDO:0022643	biolink:NamedThing	carcinoma of the vocal tract	A carcinoma that involves the laryngeal vocal fold.	DOVES_relaxed.owl
MONDO:0004089	biolink:NamedThing	basaloid carcinoma of the penis	An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present.	DOVES_relaxed.owl
MONDO:0004106	biolink:NamedThing	testicular yolk sac tumor, macrocystic pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces.	DOVES_relaxed.owl
MONDO:0004178	biolink:NamedThing	testicular yolk sac tumor, endodermal sinus pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli.	DOVES_relaxed.owl
MONDO:0004198	biolink:NamedThing	testicular yolk sac tumor, solid pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli.	DOVES_relaxed.owl
MONDO:0004219	biolink:NamedThing	polyvesicular vitelline pattern testicular yolk sac tumor	A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue.	DOVES_relaxed.owl
MONDO:0004402	biolink:NamedThing	testicular yolk sac tumor, glandular-alveolar pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures.	DOVES_relaxed.owl
MONDO:0004453	biolink:NamedThing	testicular yolk sac tumor, myxomatous pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli.	DOVES_relaxed.owl
MONDO:0004493	biolink:NamedThing	testicular yolk sac tumor, papillary pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli.	DOVES_relaxed.owl
MONDO:0004494	biolink:NamedThing	testicular yolk sac tumor, hepatoid pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections.	DOVES_relaxed.owl
MONDO:0004543	biolink:NamedThing	enteric pattern testicular yolk sac tumor	A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands.	DOVES_relaxed.owl
MONDO:0004547	biolink:NamedThing	reticular pattern testicular yolk sac tumor	A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance.	DOVES_relaxed.owl
MONDO:0004404	biolink:NamedThing	refractory precursor T-lymphoblastic lymphoma/leukemia	T-lymphoblastic leukemia/lymphoma resistant to treatment	DOVES_relaxed.owl
MONDO:0004816	biolink:NamedThing	refractory plasma cell neoplasm	A plasma cell neoplasm that is resistant to treatment.	DOVES_relaxed.owl
MONDO:0015692	biolink:NamedThing	refractory anemia with excess blasts in transformation	Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2.	DOVES_relaxed.owl
MONDO:0019453	biolink:NamedThing	myelodysplastic syndrome with multilineage dysplasia	Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.	DOVES_relaxed.owl
MONDO:0044874	biolink:NamedThing	refractory cytopenia of childhood	The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood.	DOVES_relaxed.owl
MONDO:0018480	biolink:NamedThing	carcinoma of esophagus, salivary gland type		DOVES_relaxed.owl
MONDO:0004135	biolink:NamedThing	subacute lymphocytic thyroiditis	Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function.	DOVES_relaxed.owl
MONDO:0006982	biolink:NamedThing	subacute thyroiditis	Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function.	DOVES_relaxed.owl
MONDO:0004152	biolink:NamedThing	chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation	A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years.	DOVES_relaxed.owl
MONDO:0004478	biolink:NamedThing	pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma	A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years.	DOVES_relaxed.owl
MONDO:0004158	biolink:NamedThing	pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma	A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component.	DOVES_relaxed.owl
MONDO:0004159	biolink:NamedThing	pancreatic non-invasive mucinous cystadenocarcinoma	A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis.	DOVES_relaxed.owl
MONDO:0005182	biolink:NamedThing	serous cystadenofibroma	A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well.	DOVES_relaxed.owl
MONDO:0004836	biolink:NamedThing	intravascular fasciitis	A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.	DOVES_relaxed.owl
MONDO:0004831	biolink:NamedThing	proliferative fasciitis	A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize.	DOVES_relaxed.owl
MONDO:0004833	biolink:NamedThing	plantar fasciitis	Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related.	DOVES_relaxed.owl
MONDO:0004834	biolink:NamedThing	ischemic fasciitis	A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative.	DOVES_relaxed.owl
MONDO:0004835	biolink:NamedThing	necrotizing fasciitis	Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue.	DOVES_relaxed.owl
MONDO:0009175	biolink:NamedThing	eosinophilic fasciitis	Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.	DOVES_relaxed.owl
MONDO:0005031	biolink:NamedThing	fibromatosis	A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.	DOVES_relaxed.owl
MONDO:0005167	biolink:NamedThing	fibroma	A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts.	DOVES_relaxed.owl
MONDO:0016238	biolink:NamedThing	solitary fibrous tumor	Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia).	DOVES_relaxed.owl
MONDO:0016440	biolink:NamedThing	elastofibroma dorsi	A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules.	DOVES_relaxed.owl
MONDO:0007606	biolink:NamedThing	fibrodysplasia ossificans progressiva	Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.	DOVES_relaxed.owl
MONDO:0008792	biolink:NamedThing	familial angiolipomatosis	Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.	DOVES_relaxed.owl
MONDO:0009848	biolink:NamedThing	dissecting cellulitis of the scalp	Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia.	DOVES_relaxed.owl
MONDO:0013577	biolink:NamedThing	Lipedema	Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema.	DOVES_relaxed.owl
MONDO:0016083	biolink:NamedThing	FLOTCH syndrome	FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.	DOVES_relaxed.owl
MONDO:0018063	biolink:NamedThing	nodular non-suppurative panniculitis	Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.	DOVES_relaxed.owl
MONDO:0018884	biolink:NamedThing	Roch-Leri mesosomatous lipomatosis	Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.	DOVES_relaxed.owl
MONDO:0019599	biolink:NamedThing	primary lipodystrophy	Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy).	DOVES_relaxed.owl
MONDO:0019789	biolink:NamedThing	cytophagic histiocytic panniculitis	Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.	DOVES_relaxed.owl
MONDO:0004203	biolink:NamedThing	female urethral cancer	A cancer that involves the female urethra.	DOVES_relaxed.owl
MONDO:0004240	biolink:NamedThing	posterior urethra cancer	A malignant neoplasm that affects the portion of the urethra that is close to the bladder.	DOVES_relaxed.owl
MONDO:0004518	biolink:NamedThing	anterior urethra cancer	A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body.	DOVES_relaxed.owl
MONDO:0004202	biolink:NamedThing	adrenal medulla carcinoma	A carcinoma that arises from epithelial cells of the adrenal medulla	DOVES_relaxed.owl
MONDO:0021275	biolink:NamedThing	papilloma of eyelid	A papilloma that involves the eyelid.	DOVES_relaxed.owl
MONDO:0004205	biolink:NamedThing	lymphohistiocytoid mesothelioma		DOVES_relaxed.owl
MONDO:0006380	biolink:NamedThing	pleural sarcomatoid mesothelioma	Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma.	DOVES_relaxed.owl
MONDO:0004210	biolink:NamedThing	colonic L-cell glucagon-like peptide producing tumor	A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.	DOVES_relaxed.owl
MONDO:0006155	biolink:NamedThing	colon neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	DOVES_relaxed.owl
MONDO:0004217	biolink:NamedThing	childhood brain germinoma	A germinoma arising from the brain during childhood.	DOVES_relaxed.owl
MONDO:0004513	biolink:NamedThing	adult pleomorphic rhabdomyosarcoma	An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities.	DOVES_relaxed.owl
MONDO:0004236	biolink:NamedThing	duodenal somatostatinoma	A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures.	DOVES_relaxed.owl
MONDO:0016086	biolink:NamedThing	osteochondritis of tarsal/metatarsal bone	A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.	DOVES_relaxed.owl
MONDO:0018385	biolink:NamedThing	osteochondrosis of genetic origin	An instance of osteochondrosis that is caused by a modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0018929	biolink:NamedThing	medial condensing osteitis of the clavicle		DOVES_relaxed.owl
MONDO:0019967	biolink:NamedThing	Kienbock disease	Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.	DOVES_relaxed.owl
MONDO:0019969	biolink:NamedThing	panner disease	Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.	DOVES_relaxed.owl
MONDO:0019970	biolink:NamedThing	Sinding-Larsen-Johansson disease	Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella.	DOVES_relaxed.owl
MONDO:0016699	biolink:NamedThing	myxopapillary ependymoma	Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.	DOVES_relaxed.owl
MONDO:0033980	biolink:NamedThing	RELA fusion-positive ependymoma		DOVES_relaxed.owl
MONDO:0043839	biolink:NamedThing	ulcer disease	A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue.	DOVES_relaxed.owl
MONDO:0004353	biolink:NamedThing	extrahepatic biliary papillomatosis	A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts.	DOVES_relaxed.owl
MONDO:0004509	biolink:NamedThing	intrahepatic biliary papillomatosis	A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic bile ducts.	DOVES_relaxed.owl
MONDO:0004261	biolink:NamedThing	periductal breast myoepitheliosis	A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts.	DOVES_relaxed.owl
MONDO:0004449	biolink:NamedThing	intraductal breast myoepitheliosis	A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts.	DOVES_relaxed.owl
MONDO:0004310	biolink:NamedThing	adult embryonal tumor with multilayered rosettes, c19mc-altered	An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults.	DOVES_relaxed.owl
MONDO:0004264	biolink:NamedThing	acute gonococcal endometritis		DOVES_relaxed.owl
MONDO:0042451	biolink:NamedThing	endomyometritis	An inflammation of the endometrium and the myometrium.	DOVES_relaxed.owl
MONDO:0004269	biolink:NamedThing	breast cystic hypersecretory carcinoma		DOVES_relaxed.owl
MONDO:0004270	biolink:NamedThing	breast ductal adenoma	A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor.	DOVES_relaxed.owl
MONDO:0004271	biolink:NamedThing	pregnancy adenoma	A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes.	DOVES_relaxed.owl
MONDO:0004276	biolink:NamedThing	ceruminoma	A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a grey mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm.	DOVES_relaxed.owl
MONDO:0004274	biolink:NamedThing	mixed epithelial/mesenchymal metaplastic breast carcinoma	An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous.	DOVES_relaxed.owl
MONDO:0004280	biolink:NamedThing	asymmetric motor neuropathy		DOVES_relaxed.owl
MONDO:0004281	biolink:NamedThing	vulvar eccrine porocarcinoma	An eccrine porocarcinoma that arises from the sweat glands in the vulva.	DOVES_relaxed.owl
MONDO:0004285	biolink:NamedThing	pancreatic intraductal papillary-mucinous carcinoma	A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations.	DOVES_relaxed.owl
MONDO:0018525	biolink:NamedThing	solid pseudopapillary carcinoma of pancreas	A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues.	DOVES_relaxed.owl
MONDO:0018527	biolink:NamedThing	osteoclastic giant cell tumor of pancreas		DOVES_relaxed.owl
MONDO:0044727	biolink:NamedThing	pancreatic carcinoma with mixed differentiation	A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss.	DOVES_relaxed.owl
MONDO:0004286	biolink:NamedThing	pancreatic intraductal papillary-mucinous neoplasm	A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus.	DOVES_relaxed.owl
MONDO:0019035	biolink:NamedThing	pancreatoblastoma	Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.	DOVES_relaxed.owl
MONDO:0044786	biolink:NamedThing	solid pseudopapillary neoplasm of the pancreas	A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases.	DOVES_relaxed.owl
MONDO:0004289	biolink:NamedThing	glottis verrucous carcinoma	An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness.	DOVES_relaxed.owl
MONDO:0004290	biolink:NamedThing	subglottis verrucous carcinoma	An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx.	DOVES_relaxed.owl
MONDO:0004292	biolink:NamedThing	supraglottis verrucous carcinoma	An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx.	DOVES_relaxed.owl
MONDO:0004473	biolink:NamedThing	epiglottis cancer	A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas.	DOVES_relaxed.owl
MONDO:0004490	biolink:NamedThing	gestational uterine corpus choriocarcinoma	A gestational choriocarcinoma that involves the body of uterus.	DOVES_relaxed.owl
MONDO:0006374	biolink:NamedThing	placental choriocarcinoma	Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur.	DOVES_relaxed.owl
MONDO:0004302	biolink:NamedThing	chief cell adenoma	A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei.	DOVES_relaxed.owl
MONDO:0004304	biolink:NamedThing	mixed cell type adenoma of parathyroid	A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells).	DOVES_relaxed.owl
MONDO:0004305	biolink:NamedThing	parathyroid oncocytic adenoma	A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm.	DOVES_relaxed.owl
MONDO:0004483	biolink:NamedThing	thyroid gland oncocytic adenoma	A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli.	DOVES_relaxed.owl
MONDO:0004307	biolink:NamedThing	sarcomatosis of the meninges	A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis.	DOVES_relaxed.owl
MONDO:0024663	biolink:NamedThing	primary skin meningioma		DOVES_relaxed.owl
MONDO:0004318	biolink:NamedThing	pulmonary type ovarian small cell carcinoma	An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung.	DOVES_relaxed.owl
MONDO:0004319	biolink:NamedThing	hypercalcemic type ovarian small cell carcinoma	An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers.	DOVES_relaxed.owl
MONDO:0016038	biolink:NamedThing	calcified aponeurotic fibroma	A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells.	DOVES_relaxed.owl
MONDO:0037253	biolink:NamedThing	ovarian thecoma	A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign.	DOVES_relaxed.owl
MONDO:0006297	biolink:NamedThing	maxillary sinus adenoid cystic carcinoma	An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course.	DOVES_relaxed.owl
MONDO:0004329	biolink:NamedThing	pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia	A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present.	DOVES_relaxed.owl
MONDO:0004381	biolink:NamedThing	pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia	A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures.	DOVES_relaxed.owl
MONDO:0004333	biolink:NamedThing	pancreatic ACTH-producing neuroendocrine tumor	A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor.	DOVES_relaxed.owl
MONDO:0024638	biolink:NamedThing	pancreatic gastrinoma	A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption.	DOVES_relaxed.owl
MONDO:0024677	biolink:NamedThing	pancreatic insulinoma	An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.	DOVES_relaxed.owl
MONDO:0004468	biolink:NamedThing	anal canal Paget disease	Paget disease involving the squamous epithelium of the anal canal.	DOVES_relaxed.owl
MONDO:0004338	biolink:NamedThing	retinal cell cancer		DOVES_relaxed.owl
MONDO:0004349	biolink:NamedThing	retina lymphoma	A lymphoma that involves the retina.	DOVES_relaxed.owl
MONDO:0004356	biolink:NamedThing	childhood multilocular cystic kidney neoplasm	A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present.	DOVES_relaxed.owl
MONDO:0004554	biolink:NamedThing	childhood kidney angiomyolipoma	An angiomyolipoma occurring in childhood.	DOVES_relaxed.owl
MONDO:0004361	biolink:NamedThing	adult spinal cord ependymoma	An ependymoma of the spinal cord occurring in adults.	DOVES_relaxed.owl
MONDO:0004366	biolink:NamedThing	mixed astrocytoma-ependymoma-oligodendroglioma	A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components.	DOVES_relaxed.owl
MONDO:0004393	biolink:NamedThing	mixed astrocytoma-ependymoma	A tumor of mixed cell type with astrocytic components as well as ependymoma components.	DOVES_relaxed.owl
MONDO:0020081	biolink:NamedThing	macrophage or histiocytic tumor		DOVES_relaxed.owl
MONDO:0020082	biolink:NamedThing	dendritic cell tumor	A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy.	DOVES_relaxed.owl
MONDO:0004385	biolink:NamedThing	adult xanthogranuloma	A xanthogranuloma that occurs in an adult.	DOVES_relaxed.owl
MONDO:0004386	biolink:NamedThing	uterine corpus atypical polypoid adenomyoma	An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision.	DOVES_relaxed.owl
MONDO:0004397	biolink:NamedThing	benign mediastinal psammomatous neurilemmoma	A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies.	DOVES_relaxed.owl
MONDO:0004400	biolink:NamedThing	malignant type A thymoma	A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize.	DOVES_relaxed.owl
MONDO:0004407	biolink:NamedThing	stroma-dominant and stroma-poor composite ganglioneuroblastoma	A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume.	DOVES_relaxed.owl
MONDO:0004408	biolink:NamedThing	schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma	A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume.	DOVES_relaxed.owl
MONDO:0004409	biolink:NamedThing	nipple duct carcinoma	A carcinoma that develops in the ducts of the nipple.	DOVES_relaxed.owl
MONDO:0015873	biolink:NamedThing	Paget disease of the nipple	Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses.	DOVES_relaxed.owl
MONDO:0004422	biolink:NamedThing	cerebral falx meningioma	A meningioma that affects the falx cerebri.	DOVES_relaxed.owl
MONDO:0004426	biolink:NamedThing	frontal convexity meningioma	A meningioma that affects the frontal sulcus.	DOVES_relaxed.owl
MONDO:0004436	biolink:NamedThing	ovarian myxoid liposarcoma	A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma.	DOVES_relaxed.owl
MONDO:0013280	biolink:NamedThing	myxoid liposarcoma	A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma.	DOVES_relaxed.owl
MONDO:0004443	biolink:NamedThing	chest wall parachordoma	A parachordoma arising from the chest wall.	DOVES_relaxed.owl
MONDO:0004454	biolink:NamedThing	cellular congenital mesoblastic nephroma	A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present.	DOVES_relaxed.owl
MONDO:0004455	biolink:NamedThing	classic congenital mesoblastic nephroma	A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation.	DOVES_relaxed.owl
MONDO:0004460	biolink:NamedThing	thyroid gland fetal adenoma	A thyroid gland adenoma composed of microfollicular structures.	DOVES_relaxed.owl
MONDO:0004524	biolink:NamedThing	thyroid gland atypical follicular adenoma	A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign.	DOVES_relaxed.owl
MONDO:0004558	biolink:NamedThing	thyroid gland macrofollicular adenoma	A thyroid gland adenoma composed of large size follicles.	DOVES_relaxed.owl
MONDO:0009692	biolink:NamedThing	primary myelofibrosis	Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.	DOVES_relaxed.owl
MONDO:0023119	biolink:NamedThing	familial myelofibrosis		DOVES_relaxed.owl
MONDO:0043168	biolink:NamedThing	panostotic fibrous dysplasia		DOVES_relaxed.owl
MONDO:0800305	biolink:NamedThing	myelofibrosis with myeloid metaplasia		DOVES_relaxed.owl
MONDO:8000000	biolink:NamedThing	infectious discitis	An infection of the intervertebral disc space.	DOVES_relaxed.owl
MONDO:0004472	biolink:NamedThing	breast columnar cell mucinous carcinoma	An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified.	DOVES_relaxed.owl
MONDO:0021288	biolink:NamedThing	carcinoma in situ of hypopharynx	A in situ carcinoma that involves the hypopharynx.	DOVES_relaxed.owl
MONDO:0044638	biolink:NamedThing	hypopharynx squamous cell carcinoma	A squamous cell carcinoma that involves the hypopharynx.	DOVES_relaxed.owl
MONDO:0007965	biolink:NamedThing	melanoma, malignant familial intraocular		DOVES_relaxed.owl
MONDO:0011954	biolink:NamedThing	melanoma, cutaneous malignant, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0012183	biolink:NamedThing	melanoma, cutaneous malignant, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0012842	biolink:NamedThing	melanoma, cutaneous malignant, susceptibility to, 7		DOVES_relaxed.owl
MONDO:0013133	biolink:NamedThing	melanoma, cutaneous malignant, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0013510	biolink:NamedThing	melanoma, cutaneous malignant, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0014368	biolink:NamedThing	melanoma, cutaneous malignant, susceptibility to, 10		DOVES_relaxed.owl
MONDO:0004486	biolink:NamedThing	endocervical type cervical adenomyoma	An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present.	DOVES_relaxed.owl
MONDO:0004487	biolink:NamedThing	endometrial type cervical adenomyoma	An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia.	DOVES_relaxed.owl
MONDO:0004488	biolink:NamedThing	cervical atypical polypoid adenomyoma	An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity.	DOVES_relaxed.owl
MONDO:0035647	biolink:NamedThing	childhood-onset Steinert myotonic dystrophy		DOVES_relaxed.owl
MONDO:0035648	biolink:NamedThing	juvenile-onset Steinert myotonic dystrophy		DOVES_relaxed.owl
MONDO:0035649	biolink:NamedThing	adult-onset Steinert myotonic dystrophy		DOVES_relaxed.owl
MONDO:0035650	biolink:NamedThing	late-onset Steinert myotonic dystrophy		DOVES_relaxed.owl
MONDO:0005021	biolink:NamedThing	dilated cardiomyopathy	Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.	DOVES_relaxed.owl
MONDO:0005045	biolink:NamedThing	hypertrophic cardiomyopathy	A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.	DOVES_relaxed.owl
MONDO:0005201	biolink:NamedThing	restrictive cardiomyopathy	A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.	DOVES_relaxed.owl
MONDO:0016587	biolink:NamedThing	arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.	DOVES_relaxed.owl
MONDO:0004500	biolink:NamedThing	lung superior sulcus carcinoma	A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor.	DOVES_relaxed.owl
MONDO:0004503	biolink:NamedThing	upper clivus meningioma	A meningioma that affects the upper clivus.	DOVES_relaxed.owl
MONDO:0004511	biolink:NamedThing	lower clivus meningioma	A meningioma that affects the lower clivus.	DOVES_relaxed.owl
MONDO:0004514	biolink:NamedThing	chronic rhinitis	Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough.	DOVES_relaxed.owl
MONDO:0005659	biolink:NamedThing	atrophic rhinitis	A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena).	DOVES_relaxed.owl
MONDO:0011786	biolink:NamedThing	allergic rhinitis	Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life.	DOVES_relaxed.owl
MONDO:0005998	biolink:NamedThing	trombiculiasis	Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus.	DOVES_relaxed.owl
MONDO:0004529	biolink:NamedThing	non-ossifying fibromyxoid tumor	A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present.	DOVES_relaxed.owl
MONDO:0006330	biolink:NamedThing	ossifying fibromyxoid tumor	A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients.	DOVES_relaxed.owl
MONDO:0004542	biolink:NamedThing	cervical adenosquamous carcinoma, glassy cell variant	A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates.	DOVES_relaxed.owl
MONDO:0004544	biolink:NamedThing	chordoid meningioma	A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma.	DOVES_relaxed.owl
MONDO:0004551	biolink:NamedThing	Meckel diverticulitis	Inflammation of a congenital diverticulum of the lower intestine.	DOVES_relaxed.owl
MONDO:0004560	biolink:NamedThing	follicular infundibulum tumor		DOVES_relaxed.owl
MONDO:0007564	biolink:NamedThing	pilomatrixoma	Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome.	DOVES_relaxed.owl
MONDO:0018850	biolink:NamedThing	proliferating trichilemmal cyst	Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.	DOVES_relaxed.owl
MONDO:0004574	biolink:NamedThing	pyridoxine deficiency anemia	Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia.	DOVES_relaxed.owl
MONDO:0006676	biolink:NamedThing	beriberi	Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth.	DOVES_relaxed.owl
MONDO:0005545	biolink:NamedThing	staphylococcus aureus infection	An infectious process in which the bacteria Staphylococcus aureus is present.	DOVES_relaxed.owl
MONDO:0041879	biolink:NamedThing	staphylococcus aureus pneumonia	An pneumonia caused by infection with Staphylococcus aureus.	DOVES_relaxed.owl
MONDO:0100073	biolink:NamedThing	methicillin-resistant staphylococcus aureus infectious disease	Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins.	DOVES_relaxed.owl
MONDO:8000001	biolink:NamedThing	staphylococcus discitis	Discitis caused by infection with Staphylococcus.	DOVES_relaxed.owl
MONDO:0004594	biolink:NamedThing	puerperal pulmonary embolism		DOVES_relaxed.owl
MONDO:0004601	biolink:NamedThing	ulcer of lower limbs	Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer.	DOVES_relaxed.owl
MONDO:0004646	biolink:NamedThing	decubitus ulcer	Death of tissue due to external pressure.	DOVES_relaxed.owl
MONDO:0004604	biolink:NamedThing	Hodgkin's lymphoma, lymphocytic-histiocytic predominance	A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)	DOVES_relaxed.owl
MONDO:0009348	biolink:NamedThing	classic Hodgkin lymphoma	Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.	DOVES_relaxed.owl
MONDO:0004620	biolink:NamedThing	Hodgkin's lymphoma, lymphocytic depletion	A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)	DOVES_relaxed.owl
MONDO:0004633	biolink:NamedThing	Hodgkin's lymphoma, mixed cellularity	A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)	DOVES_relaxed.owl
MONDO:0004665	biolink:NamedThing	nodular sclerosis classical Hodgkin lymphoma	A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)	DOVES_relaxed.owl
MONDO:0020327	biolink:NamedThing	classic Hodgkin lymphoma, nodular sclerosis type		DOVES_relaxed.owl
MONDO:0004607	biolink:NamedThing	vallecula cancer	A cancer involving a epiglottic vallecula.	DOVES_relaxed.owl
MONDO:0004611	biolink:NamedThing	soft palate cancer	A primary or metastatic malignant neoplasm that affects the soft palate.	DOVES_relaxed.owl
MONDO:0005286	biolink:NamedThing	palatal neoplasm	A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula.	DOVES_relaxed.owl
MONDO:0004719	biolink:NamedThing	hard palate cancer	A malignant neoplasm involving the hard palate.	DOVES_relaxed.owl
MONDO:0021480	biolink:NamedThing	benign neoplasm of soft palate	A benign neoplasm that involves the soft palate.	DOVES_relaxed.owl
MONDO:0021518	biolink:NamedThing	benign neoplasm of hard palate	A benign neoplasm that involves the hard palate.	DOVES_relaxed.owl
MONDO:0004645	biolink:NamedThing	cheek mucosa cancer	A malignant neoplasm involving the buccal mucosa.	DOVES_relaxed.owl
MONDO:0004727	biolink:NamedThing	vestibule of mouth cancer	A cancer that involves the oral opening.	DOVES_relaxed.owl
MONDO:0004615	biolink:NamedThing	upper gum cancer	A cancer involving a gingiva of upper jaw.	DOVES_relaxed.owl
MONDO:0004713	biolink:NamedThing	lower gum cancer	A cancer involving a gingiva of lower jaw.	DOVES_relaxed.owl
MONDO:0005770	biolink:NamedThing	genital herpes	Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus.	DOVES_relaxed.owl
MONDO:0017381	biolink:NamedThing	congenital herpes simplex virus infection	Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.	DOVES_relaxed.owl
MONDO:0100359	biolink:NamedThing	herpes simplex type 1 infectious disease	A disease caused by infection with herpes simplex type 1.	DOVES_relaxed.owl
MONDO:0100360	biolink:NamedThing	herpes simplex type 2 infectious disease	A disease caused by infection with herpes simplex type 2.	DOVES_relaxed.owl
MONDO:0004619	biolink:NamedThing	measles	A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR).	DOVES_relaxed.owl
MONDO:0004621	biolink:NamedThing	upper lip cancer	A malignant neoplasm involving the upper lip.	DOVES_relaxed.owl
MONDO:0004673	biolink:NamedThing	lower lip cancer	A malignant neoplasm involving the lower lip.	DOVES_relaxed.owl
MONDO:0004624	biolink:NamedThing	uvula cancer	A malignant neoplasm involving the palatine uvula.	DOVES_relaxed.owl
MONDO:0021476	biolink:NamedThing	benign neoplasm of tongue	A benign neoplasm that involves the tongue.	DOVES_relaxed.owl
MONDO:0004635	biolink:NamedThing	postcricoid region cancer	A primary or metastatic malignant neoplasm that affects the postcricoid region.	DOVES_relaxed.owl
MONDO:0004733	biolink:NamedThing	pyriform sinus cancer	A primary or metastatic malignant neoplasm that affects the pyriform sinus.	DOVES_relaxed.owl
MONDO:0004636	biolink:NamedThing	lip carcinoma in situ	A in situ carcinoma that involves the lip.	DOVES_relaxed.owl
MONDO:0004639	biolink:NamedThing	perinatal necrotizing enterocolitis	A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract.	DOVES_relaxed.owl
MONDO:0006998	biolink:NamedThing	tonsil cancer	A primary or metastatic malignant neoplasm that affects the tonsil.	DOVES_relaxed.owl
MONDO:0004690	biolink:NamedThing	tonsillar fossa cancer	A cancer involving a tonsillar fossa.	DOVES_relaxed.owl
MONDO:0044884	biolink:NamedThing	tonsillar lymphoma	A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas.	DOVES_relaxed.owl
MONDO:0005029	biolink:NamedThing	essential thrombocythemia	A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)	DOVES_relaxed.owl
MONDO:0006311	biolink:NamedThing	myelodysplastic/myeloproliferative neoplasm	A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation.	DOVES_relaxed.owl
MONDO:0006450	biolink:NamedThing	therapy-related myeloid neoplasm	Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders.	DOVES_relaxed.owl
MONDO:0008040	biolink:NamedThing	transient myeloproliferative syndrome	A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.	DOVES_relaxed.owl
MONDO:0009695	biolink:NamedThing	myeloproliferative disease, autosomal recessive		DOVES_relaxed.owl
MONDO:0019452	biolink:NamedThing	myeloproliferative neoplasm, unclassifiable	This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms.	DOVES_relaxed.owl
MONDO:0020703	biolink:NamedThing	erythroid neoplasm		DOVES_relaxed.owl
MONDO:0004975	biolink:NamedThing	Alzheimer disease	A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.	DOVES_relaxed.owl
MONDO:0007488	biolink:NamedThing	Lewy body dementia	A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease.	DOVES_relaxed.owl
MONDO:0019976	biolink:NamedThing	dementia pugilistica	Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma.	DOVES_relaxed.owl
MONDO:0020144	biolink:NamedThing	cerebrovascular dementia		DOVES_relaxed.owl
MONDO:0035161	biolink:NamedThing	progressive dementia with neuroserpin inclusion bodies		DOVES_relaxed.owl
MONDO:0005824	biolink:NamedThing	Legionnaires' disease	A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations.	DOVES_relaxed.owl
MONDO:0005867	biolink:NamedThing	Mycoplasma pneumoniae pneumonia	Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar.	DOVES_relaxed.owl
MONDO:0005970	biolink:NamedThing	staphylococcal pneumonia	Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus.	DOVES_relaxed.owl
MONDO:0005972	biolink:NamedThing	streptococcal pneumonia	A febrile disease caused by streptococcus pneumoniae.	DOVES_relaxed.owl
MONDO:0030602	biolink:NamedThing	Klebsiella pneumonia	An pneumonia caused by infection with Klebsiella.	DOVES_relaxed.owl
MONDO:0037398	biolink:NamedThing	pneumonia caused by pseudomonas aeruginosa infection	A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen.	DOVES_relaxed.owl
MONDO:0015102	biolink:NamedThing	non-secreting chemodectoma		DOVES_relaxed.owl
MONDO:0004653	biolink:NamedThing	atypical chronic myeloid leukemia, BCR-ABL1 negative	A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0011996	biolink:NamedThing	chronic myelogenous leukemia, BCR-ABL1 positive	A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival.	DOVES_relaxed.owl
MONDO:0024685	biolink:NamedThing	Philadelphia-positive myelogenous leukemia		DOVES_relaxed.owl
MONDO:0020077	biolink:NamedThing	myelodysplastic/myeloproliferative disease	Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS.	DOVES_relaxed.owl
MONDO:0004661	biolink:NamedThing	trachea carcinoma in situ	A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion.	DOVES_relaxed.owl
MONDO:0004667	biolink:NamedThing	sublingual gland cancer	A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas.	DOVES_relaxed.owl
MONDO:0021242	biolink:NamedThing	sublingual gland neoplasm	A neoplasm (disease) that involves the sublingual gland.	DOVES_relaxed.owl
MONDO:0021495	biolink:NamedThing	benign neoplasm of sublingual gland	A benign neoplasm that involves the sublingual gland.	DOVES_relaxed.owl
MONDO:0004700	biolink:NamedThing	parotid gland cancer	A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma.	DOVES_relaxed.owl
MONDO:0021368	biolink:NamedThing	neoplasm of major salivary gland	A neoplasm (disease) that involves the major salivary gland.	DOVES_relaxed.owl
MONDO:0006651	biolink:NamedThing	anterior uveitis	Inflammation of the iris and anterior chamber of the eye.	DOVES_relaxed.owl
MONDO:0006806	biolink:NamedThing	intermediate uveitis	Inflammation of the pars plana.	DOVES_relaxed.owl
MONDO:0006990	biolink:NamedThing	suppurative uveitis	Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia.	DOVES_relaxed.owl
MONDO:0017255	biolink:NamedThing	panuveitis	A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers.	DOVES_relaxed.owl
MONDO:0031012	biolink:NamedThing	autoimmune uveitis	An autoimmune form of uveitis (disease).	DOVES_relaxed.owl
MONDO:0006830	biolink:NamedThing	leukoplakia of penis	A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene.	DOVES_relaxed.owl
MONDO:0004680	biolink:NamedThing	primary thrombocytopenia		DOVES_relaxed.owl
MONDO:0004684	biolink:NamedThing	plantar fibromatosis	A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern.	DOVES_relaxed.owl
MONDO:0016037	biolink:NamedThing	superficial Fibromatosis	A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern.	DOVES_relaxed.owl
MONDO:0006345	biolink:NamedThing	palmar fibromatosis	A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males.	DOVES_relaxed.owl
MONDO:0016039	biolink:NamedThing	infantile digital fibromatosis		DOVES_relaxed.owl
MONDO:0004686	biolink:NamedThing	lattice corneal dystrophy		DOVES_relaxed.owl
MONDO:0007374	biolink:NamedThing	Schnyder corneal dystrophy	Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.	DOVES_relaxed.owl
MONDO:0007376	biolink:NamedThing	fleck corneal dystrophy	Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.	DOVES_relaxed.owl
MONDO:0009018	biolink:NamedThing	central cloudy dystrophy of François	Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.	DOVES_relaxed.owl
MONDO:0012401	biolink:NamedThing	congenital stromal corneal dystrophy	Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.	DOVES_relaxed.owl
MONDO:0013027	biolink:NamedThing	posterior amorphous corneal dystrophy	Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.	DOVES_relaxed.owl
MONDO:0017392	biolink:NamedThing	pre-descemet corneal dystrophy	Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.	DOVES_relaxed.owl
MONDO:0004687	biolink:NamedThing	severe nonproliferative diabetic retinopathy		DOVES_relaxed.owl
MONDO:0020642	biolink:NamedThing	polycystic kidney disease	A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.	DOVES_relaxed.owl
MONDO:0031062	biolink:NamedThing	polycystic kidney disease 7		DOVES_relaxed.owl
MONDO:0021243	biolink:NamedThing	parotid gland neoplasm	A neoplasm (disease) that involves the parotid gland.	DOVES_relaxed.owl
MONDO:0021494	biolink:NamedThing	benign neoplasm of parotid gland	A benign neoplasm that involves the parotid gland.	DOVES_relaxed.owl
MONDO:0006178	biolink:NamedThing	dedifferentiated solitary fibrous tumor	A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma.	DOVES_relaxed.owl
MONDO:0004724	biolink:NamedThing	submandibular gland cancer	A malignant neoplasm involving the submandibular gland.	DOVES_relaxed.owl
MONDO:0006285	biolink:NamedThing	major salivary gland carcinoma ex pleomorphic adenoma	A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.	DOVES_relaxed.owl
MONDO:0006286	biolink:NamedThing	major salivary gland mucoepidermoid carcinoma	A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.	DOVES_relaxed.owl
MONDO:0021331	biolink:NamedThing	carcinoma of parotid gland	A carcinoma that involves the parotid gland.	DOVES_relaxed.owl
MONDO:0021481	biolink:NamedThing	benign neoplasm of submandibular gland	A benign neoplasm that involves the submandibular gland.	DOVES_relaxed.owl
MONDO:0008815	biolink:NamedThing	argininosuccinic aciduria	Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.	DOVES_relaxed.owl
MONDO:0017355	biolink:NamedThing	inborn disorder of proline metabolism	An inherited metabolic disease that is has its basis in the disruption of proline metabolic process.	DOVES_relaxed.owl
MONDO:0017356	biolink:NamedThing	inborn disorder of ornithine metabolism	An inherited metabolic disease that is has its basis in the disruption of ornithine metabolic process.	DOVES_relaxed.owl
MONDO:0037870	biolink:NamedThing	valine metabolism disease	A disease that has its basis in the disruption of valine metabolic process.	DOVES_relaxed.owl
MONDO:0045018	biolink:NamedThing	creatine biosynthetic process disease	A disease that has its basis in the disruption of creatine biosynthetic process.	DOVES_relaxed.owl
MONDO:0045020	biolink:NamedThing	glycine metabolism disease	A disease that has its basis in the disruption of glycine metabolic process.	DOVES_relaxed.owl
MONDO:0004741	biolink:NamedThing	tyrosinemia	An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.	DOVES_relaxed.owl
MONDO:0007700	biolink:NamedThing	hawkinsinuria	Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.	DOVES_relaxed.owl
MONDO:0008753	biolink:NamedThing	alkaptonuria	A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).	DOVES_relaxed.owl
MONDO:0018135	biolink:NamedThing	oculocutaneous albinism type 1	Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).	DOVES_relaxed.owl
MONDO:0004742	biolink:NamedThing	primary cerebellar degeneration	A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.	DOVES_relaxed.owl
MONDO:0044651	biolink:NamedThing	early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		DOVES_relaxed.owl
MONDO:0044877	biolink:NamedThing	paraneoplastic cerebellar degeneration	A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus.	DOVES_relaxed.owl
MONDO:0004743	biolink:NamedThing	hyperhomocysteinemia	A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.	DOVES_relaxed.owl
MONDO:0016826	biolink:NamedThing	methylmalonic aciduria and homocystinuria	An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).	DOVES_relaxed.owl
MONDO:0005362	biolink:NamedThing	erectile dysfunction	Persistent or recurrent inability to achieve or to maintain an erection during sexual activity.	DOVES_relaxed.owl
MONDO:0007013	biolink:NamedThing	vasculogenic impotence	Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both.	DOVES_relaxed.owl
MONDO:0004747	biolink:NamedThing	cleft lip	A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse.	DOVES_relaxed.owl
MONDO:0007335	biolink:NamedThing	orofacial cleft 1	Cleft lip with or without cleft palate mapped to chromosome 6p24.	DOVES_relaxed.owl
MONDO:0010906	biolink:NamedThing	orofacial cleft 11	Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene.	DOVES_relaxed.owl
MONDO:0011276	biolink:NamedThing	orofacial cleft 2		DOVES_relaxed.owl
MONDO:0012022	biolink:NamedThing	orofacial cleft 4		DOVES_relaxed.owl
MONDO:0012478	biolink:NamedThing	orofacial cleft 9		DOVES_relaxed.owl
MONDO:0013023	biolink:NamedThing	orofacial cleft 12		DOVES_relaxed.owl
MONDO:0013378	biolink:NamedThing	orofacial cleft 10	Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene.	DOVES_relaxed.owl
MONDO:0013466	biolink:NamedThing	orofacial cleft 13		DOVES_relaxed.owl
MONDO:0029145	biolink:NamedThing	orofacial cleft 8		DOVES_relaxed.owl
MONDO:0004772	biolink:NamedThing	glaucomatocyclitic crisis		DOVES_relaxed.owl
MONDO:0004773	biolink:NamedThing	iridocyclitis	An inflammation of the iris and the ciliary body	DOVES_relaxed.owl
MONDO:0004775	biolink:NamedThing	lens-induced iridocyclitis		DOVES_relaxed.owl
MONDO:0017634	biolink:NamedThing	non-infectious anterior uveitis		DOVES_relaxed.owl
MONDO:0006757	biolink:NamedThing	extrahepatic cholestasis	Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver.	DOVES_relaxed.owl
MONDO:0006874	biolink:NamedThing	obstructive jaundice	A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system.	DOVES_relaxed.owl
MONDO:0008867	biolink:NamedThing	biliary atresia	A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.	DOVES_relaxed.owl
MONDO:0006532	biolink:NamedThing	cholesteatoma of external ear	A cholesteatoma (disease) that involves the external ear.	DOVES_relaxed.owl
MONDO:0004802	biolink:NamedThing	pulmonary eosinophilia	A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents.	DOVES_relaxed.owl
MONDO:0004803	biolink:NamedThing	disseminated eosinophilic collagen disease		DOVES_relaxed.owl
MONDO:0004941	biolink:NamedThing	eosinophilia-myalgia syndrome	A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93)	DOVES_relaxed.owl
MONDO:0011895	biolink:NamedThing	idiopathic hypereosinophilic syndrome		DOVES_relaxed.owl
MONDO:0017833	biolink:NamedThing	primary hypereosinophilic syndrome		DOVES_relaxed.owl
MONDO:0017834	biolink:NamedThing	secondary hypereosinophilic syndrome		DOVES_relaxed.owl
MONDO:0100059	biolink:NamedThing	hypereosinophilia of undetermined significance	Long-lasting, unexplained and asymptomatic blood hypereosinophilia.	DOVES_relaxed.owl
MONDO:0500000	biolink:NamedThing	episodic angioedema with eosinophilia	A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns.	DOVES_relaxed.owl
MONDO:0004806	biolink:NamedThing	chronic eosinophilic pneumonia	Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement.	DOVES_relaxed.owl
MONDO:0004815	biolink:NamedThing	osteosclerotic plasma cell myeloma	A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes.	DOVES_relaxed.owl
MONDO:0004817	biolink:NamedThing	non-secretory plasma cell myeloma	A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine.	DOVES_relaxed.owl
MONDO:0005235	biolink:NamedThing	smoldering plasma cell myeloma	A plasma cell myeloma lacking clinical manifestations and organ impairment.	DOVES_relaxed.owl
MONDO:0006829	biolink:NamedThing	leukemoid reaction	A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear.	DOVES_relaxed.owl
MONDO:0004819	biolink:NamedThing	indolent plasma cell myeloma		DOVES_relaxed.owl
MONDO:0005607	biolink:NamedThing	chronic bronchitis	A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath.	DOVES_relaxed.owl
MONDO:0024879	biolink:NamedThing	metastatic carcinoma	A carcinoma which has spread from the original site of growth to another anatomic site.	DOVES_relaxed.owl
MONDO:0024868	biolink:NamedThing	metastatic carcinoma in the adrenal medulla	A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site.	DOVES_relaxed.owl
MONDO:0004840	biolink:NamedThing	non-congenital cyst of kidney		DOVES_relaxed.owl
MONDO:0015268	biolink:NamedThing	medullary sponge kidney	Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics.	DOVES_relaxed.owl
MONDO:0015988	biolink:NamedThing	multicystic dysplastic kidney	Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional.	DOVES_relaxed.owl
MONDO:0004846	biolink:NamedThing	placental abruption	Vaginal bleeding preceding the 20th week of gestation.	DOVES_relaxed.owl
MONDO:0005030	biolink:NamedThing	fetal growth restriction	A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age.	DOVES_relaxed.owl
MONDO:0005916	biolink:NamedThing	placenta accreta	The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)	DOVES_relaxed.owl
MONDO:0005919	biolink:NamedThing	placental insufficiency	Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus.	DOVES_relaxed.owl
MONDO:0004851	biolink:NamedThing	toxic myocarditis		DOVES_relaxed.owl
MONDO:0023232	biolink:NamedThing	giant cell myocarditis	An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available.	DOVES_relaxed.owl
MONDO:0004854	biolink:NamedThing	ophthalmia neonatorum	Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms.	DOVES_relaxed.owl
MONDO:0100011	biolink:NamedThing	tendinosis	The chronic degeneration of a tendon without inflammation.	DOVES_relaxed.owl
MONDO:0044138	biolink:NamedThing	hyalitis	Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina.	DOVES_relaxed.owl
MONDO:0017203	biolink:NamedThing	chronic endophthalmitis	Chronic form of endophthalmitis.	DOVES_relaxed.owl
MONDO:0004864	biolink:NamedThing	acute allergic mucoid otitis media	A blue drum syndrome caused by an allergen.	DOVES_relaxed.owl
MONDO:0004871	biolink:NamedThing	perianal hematoma		DOVES_relaxed.owl
MONDO:0004873	biolink:NamedThing	internal hemorrhoid	A hemorrhoid which originates above the dentate line.	DOVES_relaxed.owl
MONDO:0004875	biolink:NamedThing	xanthogranulomatous cholecystitis	Cholecystitis that is characterized by nodules containing lipid.	DOVES_relaxed.owl
MONDO:0010939	biolink:NamedThing	low phospholipid associated cholelithiasis	Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years.	DOVES_relaxed.owl
MONDO:0043994	biolink:NamedThing	acute cholecystitis	Acute inflammation of the gallbladder.	DOVES_relaxed.owl
MONDO:0004877	biolink:NamedThing	transient neonatal thrombocytopenia		DOVES_relaxed.owl
MONDO:0004879	biolink:NamedThing	senile atrophy of choroid		DOVES_relaxed.owl
MONDO:0004883	biolink:NamedThing	hereditary choroidal atrophy		DOVES_relaxed.owl
MONDO:0004886	biolink:NamedThing	diffuse secondary choroid atrophy		DOVES_relaxed.owl
MONDO:0004888	biolink:NamedThing	partial circumpapillary choroid dystrophy		DOVES_relaxed.owl
MONDO:0004898	biolink:NamedThing	total circumpapillary dystrophy of choroid		DOVES_relaxed.owl
MONDO:0004889	biolink:NamedThing	total central choroidal atrophy		DOVES_relaxed.owl
MONDO:0004890	biolink:NamedThing	partial central choroid dystrophy		DOVES_relaxed.owl
MONDO:0013137	biolink:NamedThing	choroidal dystrophy, central areolar 2	Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.	DOVES_relaxed.owl
MONDO:0013151	biolink:NamedThing	choroidal dystrophy, central areolar, 3		DOVES_relaxed.owl
MONDO:0022737	biolink:NamedThing	choroideremia hypopituitarism	This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain.	DOVES_relaxed.owl
MONDO:0004900	biolink:NamedThing	peripheral vertigo		DOVES_relaxed.owl
MONDO:0008598	biolink:NamedThing	trichodysplasia-xeroderma syndrome	Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.	DOVES_relaxed.owl
MONDO:0019281	biolink:NamedThing	isolated genetic hair shaft abnormality		DOVES_relaxed.owl
MONDO:0006726	biolink:NamedThing	diaphragmatic eventration	A congenital or acquired abnormality characterized by elevation of the hemidiaphragm.	DOVES_relaxed.owl
MONDO:0019286	biolink:NamedThing	sebaceous gland anomaly	A epidermal appendage anomaly that involves the sebaceous gland.	DOVES_relaxed.owl
MONDO:0043777	biolink:NamedThing	rhinophyma	Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose.	DOVES_relaxed.owl
MONDO:0004919	biolink:NamedThing	infected hydrocele		DOVES_relaxed.owl
MONDO:0004924	biolink:NamedThing	chronic canaliculitis	Chronic form of actinomycosis.	DOVES_relaxed.owl
MONDO:0004927	biolink:NamedThing	dacryocystocele	A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction.	DOVES_relaxed.owl
MONDO:0005699	biolink:NamedThing	cervicofacial actinomycosis	A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses.	DOVES_relaxed.owl
MONDO:0021826	biolink:NamedThing	aerobic Actinomyces infection	Infection with the less common aerobic antinomyces bacteria.	DOVES_relaxed.owl
MONDO:0004931	biolink:NamedThing	residual stage corticosteroid-induced glaucoma		DOVES_relaxed.owl
MONDO:0005584	biolink:NamedThing	congenital left-sided heart lesions	Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth.	DOVES_relaxed.owl
MONDO:0019820	biolink:NamedThing	univentricular cardiopathy		DOVES_relaxed.owl
MONDO:0015451	biolink:NamedThing	univentricular heart	Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.	DOVES_relaxed.owl
MONDO:0004942	biolink:NamedThing	orbit lymphoma	A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma.	DOVES_relaxed.owl
MONDO:0017594	biolink:NamedThing	indolent B-cell non-Hodgkin lymphoma		DOVES_relaxed.owl
MONDO:0017595	biolink:NamedThing	aggressive B-cell non-Hodgkin lymphoma		DOVES_relaxed.owl
MONDO:0018621	biolink:NamedThing	lymphoplasmacytic lymphoma without IgM production		DOVES_relaxed.owl
MONDO:0004977	biolink:NamedThing	angioimmunoblastic T-cell lymphoma	A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive.	DOVES_relaxed.owl
MONDO:0020325	biolink:NamedThing	anaplastic large cell lymphoma	Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.	DOVES_relaxed.owl
MONDO:0005494	biolink:NamedThing	triple-negative breast carcinoma	An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).	DOVES_relaxed.owl
MONDO:0012883	biolink:NamedThing	acute promyelocytic leukemia	An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.	DOVES_relaxed.owl
MONDO:0015166	biolink:NamedThing	acute myeloid leukemia with t(8;21)(q22;q22) translocation		DOVES_relaxed.owl
MONDO:0015667	biolink:NamedThing	acute myeloid leukemia by FAB classification	Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme.	DOVES_relaxed.owl
MONDO:0017894	biolink:NamedThing	acute myeloid leukemia with CEBPA somatic mutations	Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).	DOVES_relaxed.owl
MONDO:0018256	biolink:NamedThing	acute myeloid leukemia with t(8;16)(p11;p13) translocation	A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.	DOVES_relaxed.owl
MONDO:0018433	biolink:NamedThing	acute myeloid leukemia with t(6;9)(p23;q34)	Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.	DOVES_relaxed.owl
MONDO:0018434	biolink:NamedThing	acute myeloid leukemia with t(9;11)(p22;q23)		DOVES_relaxed.owl
MONDO:0018435	biolink:NamedThing	acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)	Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.	DOVES_relaxed.owl
MONDO:0018436	biolink:NamedThing	megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)	Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.	DOVES_relaxed.owl
MONDO:0018437	biolink:NamedThing	acute myeloid leukemia with NPM1 somatic mutations	Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.	DOVES_relaxed.owl
MONDO:0019456	biolink:NamedThing	acute myeloid leukemia with multilineage dysplasia	An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia.	DOVES_relaxed.owl
MONDO:0019457	biolink:NamedThing	therapy related acute myeloid leukemia and myelodysplastic syndrome	An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0019460	biolink:NamedThing	acute leukemia of ambiguous lineage	An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0020316	biolink:NamedThing	acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy.	DOVES_relaxed.owl
MONDO:0020317	biolink:NamedThing	acute myeloid leukemia with 11q23 abnormalities	An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation.	DOVES_relaxed.owl
MONDO:0035112	biolink:NamedThing	acute myeloid leukemia with BCR-ABL1		DOVES_relaxed.owl
MONDO:0044923	biolink:NamedThing	acute myeloid leukemia with mutated NPM1	An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy.	DOVES_relaxed.owl
MONDO:0100373	biolink:NamedThing	acute myeloid leukemia, inv(16)(p13.1;q22)	Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)	DOVES_relaxed.owl
MONDO:0100374	biolink:NamedThing	acute myeloid leukemia, t(16;16)(p13.1;q22)	Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)	DOVES_relaxed.owl
MONDO:0100375	biolink:NamedThing	acute myeloid leukemia, t(15;17)(q24;q21)	Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)	DOVES_relaxed.owl
MONDO:0100376	biolink:NamedThing	acute myeloid leukemia, t(9;11)(p21.3;q23.3)	Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)	DOVES_relaxed.owl
MONDO:0100377	biolink:NamedThing	acute myeloid leukemia, t(10;11)(p12;q23)	Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)	DOVES_relaxed.owl
MONDO:0100378	biolink:NamedThing	acute myeloid leukemia, t(10;11)(p11.2;q23)	Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)	DOVES_relaxed.owl
MONDO:0100379	biolink:NamedThing	acute myeloid leukemia, t(1;11)(q21;q23)	Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)	DOVES_relaxed.owl
MONDO:0100380	biolink:NamedThing	acute myeloid leukemia, t(4;11)(q21;q23)	Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)	DOVES_relaxed.owl
MONDO:0100381	biolink:NamedThing	acute myeloid leukemia, t(6;11)(q27;q23)	Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)	DOVES_relaxed.owl
MONDO:0100382	biolink:NamedThing	acute myeloid leukemia, t(6;9)(p23;q34.1)	Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)	DOVES_relaxed.owl
MONDO:0100383	biolink:NamedThing	acute myeloid leukemia, t(11;19)(q23;p13)	Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.)	DOVES_relaxed.owl
MONDO:0100384	biolink:NamedThing	acute myeloid leukemia, t(11;19)(q23;p13.1)	Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)	DOVES_relaxed.owl
MONDO:0100385	biolink:NamedThing	acute myeloid leukemia, t(11;19)(q23.3;p13.3)	Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)	DOVES_relaxed.owl
MONDO:0100386	biolink:NamedThing	acute myeloid leukemia, t(v;11q23.3)	Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)	DOVES_relaxed.owl
MONDO:0100387	biolink:NamedThing	acute myeloid leukemia, Monosomy 7	Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)	DOVES_relaxed.owl
MONDO:0100388	biolink:NamedThing	acute myeloid leukemia, Monosomy 5	Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)	DOVES_relaxed.owl
MONDO:0100389	biolink:NamedThing	acute myeloid leukemia, Trisomy 8	Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)	DOVES_relaxed.owl
MONDO:0100390	biolink:NamedThing	acute myeloid leukemia, der12p	Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)	DOVES_relaxed.owl
MONDO:0100391	biolink:NamedThing	acute myeloid leukemia, t(2;12)	Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.)	DOVES_relaxed.owl
MONDO:0100392	biolink:NamedThing	acute myeloid leukemia, t(11;17)	Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)	DOVES_relaxed.owl
MONDO:0100393	biolink:NamedThing	acute myeloid leukemia, t(8;16)	Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.)	DOVES_relaxed.owl
MONDO:0100394	biolink:NamedThing	acute myeloid leukemia, t(1;22)	Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)	DOVES_relaxed.owl
MONDO:0100395	biolink:NamedThing	acute myeloid leukemia, t(5;11)(q35;p15)	Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)	DOVES_relaxed.owl
MONDO:0100396	biolink:NamedThing	acute myeloid leukemia, t(7;12)(q36;p13)	Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)	DOVES_relaxed.owl
MONDO:0100397	biolink:NamedThing	acute myeloid leukemia, t(9;22)(q34.1;q11.2)	Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)	DOVES_relaxed.owl
MONDO:0100398	biolink:NamedThing	acute myeloid leukemia, inv(3)(q21.3;q26.2)	Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)	DOVES_relaxed.owl
MONDO:0100399	biolink:NamedThing	acute myeloid leukemia, t(3;3)(q21.3;q26.2)	Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)	DOVES_relaxed.owl
MONDO:0100400	biolink:NamedThing	acute myeloid leukemia, t(3;12)(q23;p12.3)	Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)	DOVES_relaxed.owl
MONDO:0100401	biolink:NamedThing	acute myeloid leukemia, del(5q31-q32)	Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.)	DOVES_relaxed.owl
MONDO:0100402	biolink:NamedThing	acute myeloid leukemia, del(13q14-q21)	Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)	DOVES_relaxed.owl
MONDO:0100403	biolink:NamedThing	acute myeloid leukemia, loss of chromosome 17p	Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).)	DOVES_relaxed.owl
MONDO:0100404	biolink:NamedThing	acute myeloid leukemia, MLL gene rearrangement	Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)	DOVES_relaxed.owl
MONDO:0100405	biolink:NamedThing	acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive	Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)	DOVES_relaxed.owl
MONDO:0100406	biolink:NamedThing	acute myeloid leukemia, inv(16)(p13.3;q24.3)	Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)	DOVES_relaxed.owl
MONDO:0100407	biolink:NamedThing	acute myeloid leukemia, t(11;15)(p15;q35)	Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.)	DOVES_relaxed.owl
MONDO:0100408	biolink:NamedThing	acute myeloid leukemia, t(16;21)(q24;q22)	Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)	DOVES_relaxed.owl
MONDO:0100409	biolink:NamedThing	acute myeloid leukemia, t(3;5)(q25;q34)	Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.)	DOVES_relaxed.owl
MONDO:0100410	biolink:NamedThing	acute myeloid leukemia, t(16;21)(p11;q22)	Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)	DOVES_relaxed.owl
MONDO:0100412	biolink:NamedThing	acute myeloid leukemia, monoallelic CEBPA gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)	DOVES_relaxed.owl
MONDO:0100413	biolink:NamedThing	acute myeloid leukemia, biallelic CEBPA gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)	DOVES_relaxed.owl
MONDO:0100414	biolink:NamedThing	acute myeloid leukemia, CEBPA gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)	DOVES_relaxed.owl
MONDO:0100415	biolink:NamedThing	acute myeloid leukemia, FLT3 internal tandem duplication	Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.)	DOVES_relaxed.owl
MONDO:0100416	biolink:NamedThing	acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation	Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)	DOVES_relaxed.owl
MONDO:0100417	biolink:NamedThing	acute myeloid leukemia, WT1 gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)	DOVES_relaxed.owl
MONDO:0100418	biolink:NamedThing	acute myeloid leukemia, KIT exon 17 mutation	Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)	DOVES_relaxed.owl
MONDO:0100419	biolink:NamedThing	acute myeloid leukemia, KIT exon 8 mutation	Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.)	DOVES_relaxed.owl
MONDO:0100420	biolink:NamedThing	acute myeloid leukemia, KIT gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)	DOVES_relaxed.owl
MONDO:0100421	biolink:NamedThing	acute myeloid leukemia, GATA1 gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)	DOVES_relaxed.owl
MONDO:0100422	biolink:NamedThing	acute myeloid leukemia, RUNX1 gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.)	DOVES_relaxed.owl
MONDO:0100423	biolink:NamedThing	acute myeloid leukemia, PTPN11 gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)	DOVES_relaxed.owl
MONDO:0100424	biolink:NamedThing	acute myeloid leukemia, NRAS gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.)	DOVES_relaxed.owl
MONDO:0100425	biolink:NamedThing	acute myeloid leukemia, KRAS gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.)	DOVES_relaxed.owl
MONDO:0018448	biolink:NamedThing	clear cell papillary renal cell carcinoma	Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome.	DOVES_relaxed.owl
MONDO:0005253	biolink:NamedThing	high output heart failure	High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal.	DOVES_relaxed.owl
MONDO:0005254	biolink:NamedThing	symptomatic heart failure	A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc	DOVES_relaxed.owl
MONDO:0005011	biolink:NamedThing	Crohn disease	A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement.	DOVES_relaxed.owl
MONDO:0007005	biolink:NamedThing	ulcerative proctosigmoiditis	Inflammation of the rectum and the distal portion of the colon.	DOVES_relaxed.owl
MONDO:0008617	biolink:NamedThing	inflammatory bowel disease 11	An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22.	DOVES_relaxed.owl
MONDO:0009051	biolink:NamedThing	cutaneous photosensitivity-lethal colitis syndrome	Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.	DOVES_relaxed.owl
MONDO:0009960	biolink:NamedThing	inflammatory bowel disease 1	Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene.	DOVES_relaxed.owl
MONDO:0011087	biolink:NamedThing	inflammatory bowel disease 2	An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1.	DOVES_relaxed.owl
MONDO:0011471	biolink:NamedThing	inflammatory bowel disease 3	An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3.	DOVES_relaxed.owl
MONDO:0011521	biolink:NamedThing	inflammatory bowel disease 7	An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36.	DOVES_relaxed.owl
MONDO:0011661	biolink:NamedThing	inflammatory bowel disease 5	An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31.	DOVES_relaxed.owl
MONDO:0011699	biolink:NamedThing	inflammatory bowel disease 8	An inflammatory bowel disease that has material basis in variation in the chromosome region 16p.	DOVES_relaxed.owl
MONDO:0011700	biolink:NamedThing	inflammatory bowel disease 6	An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13.	DOVES_relaxed.owl
MONDO:0011701	biolink:NamedThing	inflammatory bowel disease 4	An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12.	DOVES_relaxed.owl
MONDO:0012040	biolink:NamedThing	inflammatory bowel disease 9	An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26.	DOVES_relaxed.owl
MONDO:0012610	biolink:NamedThing	inflammatory bowel disease 10	Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene.	DOVES_relaxed.owl
MONDO:0012829	biolink:NamedThing	inflammatory bowel disease 12	An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3	DOVES_relaxed.owl
MONDO:0012831	biolink:NamedThing	inflammatory bowel disease 13	Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene.	DOVES_relaxed.owl
MONDO:0012832	biolink:NamedThing	inflammatory bowel disease 14	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene.	DOVES_relaxed.owl
MONDO:0012837	biolink:NamedThing	inflammatory bowel disease 15	An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21.	DOVES_relaxed.owl
MONDO:0012838	biolink:NamedThing	inflammatory bowel disease 16	An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32.	DOVES_relaxed.owl
MONDO:0012840	biolink:NamedThing	inflammatory bowel disease 17	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene.	DOVES_relaxed.owl
MONDO:0012841	biolink:NamedThing	inflammatory bowel disease 18	An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1.	DOVES_relaxed.owl
MONDO:0012845	biolink:NamedThing	inflammatory bowel disease 19	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene.	DOVES_relaxed.owl
MONDO:0012852	biolink:NamedThing	inflammatory bowel disease 20	An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24.	DOVES_relaxed.owl
MONDO:0012875	biolink:NamedThing	inflammatory bowel disease 21	An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11.	DOVES_relaxed.owl
MONDO:0012886	biolink:NamedThing	inflammatory bowel disease 22	An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2.	DOVES_relaxed.owl
MONDO:0012887	biolink:NamedThing	inflammatory bowel disease 23	An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1.	DOVES_relaxed.owl
MONDO:0012940	biolink:NamedThing	inflammatory bowel disease 24	An inflammatory bowel disease that has material basis in variation in the chromosome 20q13.	DOVES_relaxed.owl
MONDO:0012973	biolink:NamedThing	inflammatory bowel disease 26	An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15.	DOVES_relaxed.owl
MONDO:0013012	biolink:NamedThing	inflammatory bowel disease 27	An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3	DOVES_relaxed.owl
MONDO:0015176	biolink:NamedThing	undetermined colitis	Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.	DOVES_relaxed.owl
MONDO:0015565	biolink:NamedThing	cap polyposis	Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.	DOVES_relaxed.owl
MONDO:0030314	biolink:NamedThing	inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive		DOVES_relaxed.owl
MONDO:0033643	biolink:NamedThing	inflammatory bowel disease 30		DOVES_relaxed.owl
MONDO:0035362	biolink:NamedThing	TRIM22-related inflammatory bowel disease	Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene.	DOVES_relaxed.owl
MONDO:0035370	biolink:NamedThing	ALPI-related inflammatory bowel disease	Any inflammatory bowel disease in which the cause of the disease is a mutation in the ALPI gene.	DOVES_relaxed.owl
MONDO:0054849	biolink:NamedThing	inflammatory bowel disease 29		DOVES_relaxed.owl
MONDO:0009169	biolink:NamedThing	endocardial fibroelastosis	Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.	DOVES_relaxed.owl
MONDO:0024518	biolink:NamedThing	reactive thrombocytosis	A thrombocytosis caused by an underlying condition, such as an infection.	DOVES_relaxed.owl
MONDO:0016729	biolink:NamedThing	mixed neuronal-glial tumor	A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0016727	biolink:NamedThing	extraventricular neurocytoma	Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.	DOVES_relaxed.owl
MONDO:0016730	biolink:NamedThing	gangliocytoma	A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells.	DOVES_relaxed.owl
MONDO:0016731	biolink:NamedThing	desmoplastic infantile astrocytoma/ganglioglioma	Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.	DOVES_relaxed.owl
MONDO:0016733	biolink:NamedThing	ganglioglioma	A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0016735	biolink:NamedThing	papillary glioneuronal tumor	A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present.	DOVES_relaxed.owl
MONDO:0016736	biolink:NamedThing	rosette-forming glioneuronal tumor of fourth ventricule	A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.	DOVES_relaxed.owl
MONDO:0019002	biolink:NamedThing	Lhermitte-Duclos disease	Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.	DOVES_relaxed.owl
MONDO:0022963	biolink:NamedThing	desmoplastic infantile astrocytoma	A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0022965	biolink:NamedThing	desmoplastic infantile ganglioglioma	A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0015447	biolink:NamedThing	differentiated thyroid carcinoma	Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.	DOVES_relaxed.owl
MONDO:0017895	biolink:NamedThing	familial papillary or follicular thyroid carcinoma	A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients.	DOVES_relaxed.owl
MONDO:0005043	biolink:NamedThing	hyperplasia	An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.	DOVES_relaxed.owl
MONDO:0023370	biolink:NamedThing	neoplastic disease or syndrome	Either an isolated neoplasm or a syndrome with neoplasm as a major feature.	DOVES_relaxed.owl
MONDO:0017345	biolink:NamedThing	Epstein-Barr virus-associated mesenchymal tumor		DOVES_relaxed.owl
MONDO:0005764	biolink:NamedThing	follicular dendritic cell sarcoma	A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases.	DOVES_relaxed.owl
MONDO:0015757	biolink:NamedThing	lymphoid hemopathy		DOVES_relaxed.owl
MONDO:0011672	biolink:NamedThing	persistent polyclonal B-cell lymphocytosis	Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.	DOVES_relaxed.owl
MONDO:0020083	biolink:NamedThing	immunodeficiency-associated lymphoproliferative disease		DOVES_relaxed.owl
MONDO:0006172	biolink:NamedThing	conjunctival nevus	A benign melanocytic neoplasm that arises from the conjunctiva.	DOVES_relaxed.owl
MONDO:0007907	biolink:NamedThing	lipoma of the conjunctiva		DOVES_relaxed.owl
MONDO:0020753	biolink:NamedThing	Orthocoronavirinae infectious disease	Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19.	DOVES_relaxed.owl
MONDO:0100096	biolink:NamedThing	COVID-19	A disease caused by infection with severe acute respiratory syndrome coronavirus 2.	DOVES_relaxed.owl
MONDO:0018361	biolink:NamedThing	neonatal scleroderma		DOVES_relaxed.owl
MONDO:0019562	biolink:NamedThing	localized scleroderma	Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips.	DOVES_relaxed.owl
MONDO:0007407	biolink:NamedThing	Cryoglobulinemic vasculitis	Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia.	DOVES_relaxed.owl
MONDO:0013276	biolink:NamedThing	Reynolds syndrome	Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).	DOVES_relaxed.owl
MONDO:0018227	biolink:NamedThing	hypocomplementemic urticarial vasculitis	Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.	DOVES_relaxed.owl
MONDO:0018589	biolink:NamedThing	AApoAIV amyloidosis		DOVES_relaxed.owl
MONDO:0018613	biolink:NamedThing	AH amyloidosis		DOVES_relaxed.owl
MONDO:0018671	biolink:NamedThing	IgG4-related kidney disease		DOVES_relaxed.owl
MONDO:0019125	biolink:NamedThing	relapsing polychondritis	Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement.	DOVES_relaxed.owl
MONDO:0019127	biolink:NamedThing	polymyositis	Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes.	DOVES_relaxed.owl
MONDO:0019396	biolink:NamedThing	collagen type III glomerulopathy	Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed.	DOVES_relaxed.owl
MONDO:0019605	biolink:NamedThing	immunotactoid or fibrillary glomerulopathy	Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG.	DOVES_relaxed.owl
MONDO:0006574	biolink:NamedThing	lipomatosis	A neoplastic process characterized by diffuse overgrowth of mature adipose tissue.	DOVES_relaxed.owl
MONDO:0100321	biolink:NamedThing	viral disease or post-viral disorder	A viral infectious disease that result from the presence and activity of a viral agent, or a disorder that follows infection with an viral agent but is distinct from the usual manifestations of the infection itself.	DOVES_relaxed.owl
MONDO:0100318	biolink:NamedThing	SARS-CoV-2-related disease	A viral disease or post-viral disorder caused by infection with severe acute respiratory syndrome coronavirus 2 or the associated aftereffects of the disease.	DOVES_relaxed.owl
MONDO:0005109	biolink:NamedThing	HIV infectious disease	An infection caused by the human immunodeficiency virus.	DOVES_relaxed.owl
MONDO:0005647	biolink:NamedThing	anogenital human papillomavirus infection	A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia.	DOVES_relaxed.owl
MONDO:0044747	biolink:NamedThing	human anaplasmosis	An infection that is caused by Anaplasma phagocytophilum, which is transmitted to humans by infected ticks; it is characterized by fever, headache, chills, and myalgia.	DOVES_relaxed.owl
MONDO:0006923	biolink:NamedThing	Bacillaceae infectious disease	Infections with bacteria of the family bacillaceae.	DOVES_relaxed.owl
MONDO:0005147	biolink:NamedThing	type 1 diabetes mellitus	A chronic condition characterized by minimal or absent production of insulin by the pancreas.	DOVES_relaxed.owl
MONDO:0018645	biolink:NamedThing	IgG4-related sclerosing cholangitis		DOVES_relaxed.owl
MONDO:0019835	biolink:NamedThing	primary hypophysitis	Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease).	DOVES_relaxed.owl
MONDO:0043985	biolink:NamedThing	central nervous system lupus	Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features.	DOVES_relaxed.owl
MONDO:0005139	biolink:NamedThing	morbid obesity	An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight.	DOVES_relaxed.owl
MONDO:0005142	biolink:NamedThing	Pseudomonas aeruginosa CF5 infection	A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5.	DOVES_relaxed.owl
MONDO:0040732	biolink:NamedThing	Pseudomonas aeruginosa infectious disease		DOVES_relaxed.owl
MONDO:0005143	biolink:NamedThing	Pseudomonas aeruginosa PA14 infection	A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14.	DOVES_relaxed.owl
MONDO:0041095	biolink:NamedThing	malignant otitis externa caused by Pseudomonas aeruginosa	An malignant otitis externa caused by infection with Pseudomonas aeruginosa.	DOVES_relaxed.owl
MONDO:0005145	biolink:NamedThing	sporadic amyotrophic lateral sclerosis	Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history.	DOVES_relaxed.owl
MONDO:0008782	biolink:NamedThing	amyotrophic lateral sclerosis with polyglucosan bodies		DOVES_relaxed.owl
MONDO:0018687	biolink:NamedThing	progressive muscular atrophy	A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation.	DOVES_relaxed.owl
MONDO:0005146	biolink:NamedThing	post-traumatic stress disorder	An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.	DOVES_relaxed.owl
MONDO:0018242	biolink:NamedThing	autoimmune hypoparathyroidism	An autoimmune form of hypoparathyroidism.	DOVES_relaxed.owl
MONDO:0018465	biolink:NamedThing	insulin autoimmune syndrome	Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood.	DOVES_relaxed.owl
MONDO:0005148	biolink:NamedThing	type 2 diabetes mellitus	A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.	DOVES_relaxed.owl
MONDO:0012819	biolink:NamedThing	diabetic ketoacidosis	The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids.	DOVES_relaxed.owl
MONDO:0005185	biolink:NamedThing	chronic childhood arthritis	An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.	DOVES_relaxed.owl
MONDO:0023249	biolink:NamedThing	polyarticular juvenile rheumatoid arthritis		DOVES_relaxed.owl
MONDO:0043267	biolink:NamedThing	rheumatoid vasculitis	Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex.	DOVES_relaxed.owl
MONDO:0005188	biolink:NamedThing	iatrogenic Kaposi's sarcoma	A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment.	DOVES_relaxed.owl
MONDO:0022772	biolink:NamedThing	classic Kaposi sarcoma	A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation.	DOVES_relaxed.owl
MONDO:0023067	biolink:NamedThing	endemic Kaposi sarcoma		DOVES_relaxed.owl
MONDO:0016778	biolink:NamedThing	iatrogenic botulism	Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.	DOVES_relaxed.owl
MONDO:0034976	biolink:NamedThing	iatrogenic Creutzfeldt-Jakob disease		DOVES_relaxed.owl
MONDO:0014100	biolink:NamedThing	dilated cardiomyopathy 1KK	Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene.	DOVES_relaxed.owl
MONDO:0016333	biolink:NamedThing	familial dilated cardiomyopathy	A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.	DOVES_relaxed.owl
MONDO:0016338	biolink:NamedThing	non-familial dilated cardiomyopathy		DOVES_relaxed.owl
MONDO:0005203	biolink:NamedThing	ischemia reperfusion injury	Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury.	DOVES_relaxed.owl
MONDO:0005315	biolink:NamedThing	bone fracture	Breaks in bones.	DOVES_relaxed.owl
MONDO:0043519	biolink:NamedThing	burn	A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation.	DOVES_relaxed.owl
MONDO:0043895	biolink:NamedThing	ankle injury	Harm or hurt to the ankle or ankle joint usually inflicted by an external source.	DOVES_relaxed.owl
MONDO:0800177	biolink:NamedThing	frostbite	An injury to the skin and/or its underlying tissues that results from exposure of the affected area to extreme cold.	DOVES_relaxed.owl
MONDO:0005204	biolink:NamedThing	primary antiphospholipid syndrome	An antiphospholipid syndrome that occurs as an isolated disorder.	DOVES_relaxed.owl
MONDO:0018737	biolink:NamedThing	catastrophic antiphospholipid syndrome		DOVES_relaxed.owl
MONDO:0021008	biolink:NamedThing	secondary antiphospholipid syndrome	An antiphospholipid syndrome that occurs alongside another autoimmune disorder.	DOVES_relaxed.owl
MONDO:0005223	biolink:NamedThing	acute myeloid leukemia with minimal differentiation	An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0005224	biolink:NamedThing	acute myeloblastic leukemia without maturation	An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0017858	biolink:NamedThing	acute erythroid leukemia	An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0018871	biolink:NamedThing	acute myelomonocytic leukemia M4	An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0018872	biolink:NamedThing	acute megakaryoblastic leukemia	Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.	DOVES_relaxed.owl
MONDO:0019455	biolink:NamedThing	acute panmyelosis with myelofibrosis	An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis.	DOVES_relaxed.owl
MONDO:0019458	biolink:NamedThing	acute basophilic leukemia	A rare acute myeloid leukemia in which the immature cells differentiate towards basophils.	DOVES_relaxed.owl
MONDO:0020320	biolink:NamedThing	acute myeloblastic leukemia with maturation	An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0006541	biolink:NamedThing	epidermolysis bullosa	Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool.	DOVES_relaxed.owl
MONDO:0043254	biolink:NamedThing	papular urticaria		DOVES_relaxed.owl
MONDO:0005238	biolink:NamedThing	round cell liposarcoma	A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.	DOVES_relaxed.owl
MONDO:0005255	biolink:NamedThing	mild heart failure	Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity.	DOVES_relaxed.owl
MONDO:0005256	biolink:NamedThing	moderate heart failure	Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest.	DOVES_relaxed.owl
MONDO:0005257	biolink:NamedThing	advanced heart failure	Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients.	DOVES_relaxed.owl
MONDO:0005258	biolink:NamedThing	autism spectrum disorder	A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.	DOVES_relaxed.owl
MONDO:0015681	biolink:NamedThing	childhood disintegrative disorder	A rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.	DOVES_relaxed.owl
MONDO:0100426	biolink:NamedThing	iatrogenic	A characteristic of a diseae which results from diagnostic and therapeutic procedures undertaken on a patient.	DOVES_relaxed.owl
MONDO:0024491	biolink:NamedThing	tumor grade 1, general grading system	A morphologic qualifier indicating that a cancerous lesion is well differentiated.	DOVES_relaxed.owl
MONDO:0005478	biolink:NamedThing	torsades de pointes	A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation.	DOVES_relaxed.owl
MONDO:0024493	biolink:NamedThing	tumor grade 3, general grading system	A morphologic qualifier indicating that a cancerous lesion is poorly differentiated.	DOVES_relaxed.owl
MONDO:0016052	biolink:NamedThing	atypical autism	Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '	DOVES_relaxed.owl
MONDO:0005259	biolink:NamedThing	Asperger syndrome	A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism.	DOVES_relaxed.owl
MONDO:0005260	biolink:NamedThing	autism	Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.	DOVES_relaxed.owl
MONDO:0006685	biolink:NamedThing	brain hypoxia - ischemia	A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions.	DOVES_relaxed.owl
MONDO:0005272	biolink:NamedThing	myelodysplastic syndrome with single lineage dysplasia	A myelodysplastic syndrome characterized by dysplasia seen in at least 10% of the early cells of 1 cell type (either red blood cells, white blood cells, or megakaryocytes) in the bone marrow.	DOVES_relaxed.owl
MONDO:0044645	biolink:NamedThing	familial monosomy 7 syndrome		DOVES_relaxed.owl
MONDO:0044873	biolink:NamedThing	childhood myelodysplastic syndrome	An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults.	DOVES_relaxed.owl
MONDO:0017181	biolink:NamedThing	hypnic headache	Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes.	DOVES_relaxed.owl
MONDO:0005282	biolink:NamedThing	cutaneous lupus erythematosus	An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease.	DOVES_relaxed.owl
MONDO:0016474	biolink:NamedThing	drug-induced lupus erythematosus	An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs.	DOVES_relaxed.owl
MONDO:0005314	biolink:NamedThing	relapsing-remitting multiple sclerosis	The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)	DOVES_relaxed.owl
MONDO:0005291	biolink:NamedThing	brain aneurysm	A congenital or acquired aneurysm within the cranium.	DOVES_relaxed.owl
MONDO:0006693	biolink:NamedThing	cerebral arterial disease	Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery.	DOVES_relaxed.owl
MONDO:0006857	biolink:NamedThing	middle cerebral artery infarction	Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.	DOVES_relaxed.owl
MONDO:0006917	biolink:NamedThing	posterior cerebral artery infarction	Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia).	DOVES_relaxed.owl
MONDO:0005890	biolink:NamedThing	osteitis fibrosa	A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism.	DOVES_relaxed.owl
MONDO:0043731	biolink:NamedThing	lytic metastatic bone lesion	Dissolution of bone that particularly involves the removal or loss of calcium.	DOVES_relaxed.owl
MONDO:0800064	biolink:NamedThing	osteogenesis imperfecta and a reduction of bone mineral density.	A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density.	DOVES_relaxed.owl
MONDO:0007204	biolink:NamedThing	Cole-Carpenter syndrome 1	Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.	DOVES_relaxed.owl
MONDO:0007470	biolink:NamedThing	calvarial doughnut lesions-bone fragility syndrome	This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.	DOVES_relaxed.owl
MONDO:0008146	biolink:NamedThing	osteogenesis imperfecta type 1	Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.	DOVES_relaxed.owl
MONDO:0008147	biolink:NamedThing	osteogenesis imperfecta type 2	Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.	DOVES_relaxed.owl
MONDO:0008148	biolink:NamedThing	osteogenesis imperfecta type 4	Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI).	DOVES_relaxed.owl
MONDO:0008151	biolink:NamedThing	gnathodiaphyseal dysplasia	Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.	DOVES_relaxed.owl
MONDO:0009271	biolink:NamedThing	geroderma osteodysplastica	Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.	DOVES_relaxed.owl
MONDO:0009804	biolink:NamedThing	osteogenesis imperfecta type 3	Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).	DOVES_relaxed.owl
MONDO:0009805	biolink:NamedThing	osteogenesis imperfecta type 9	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene.	DOVES_relaxed.owl
MONDO:0012217	biolink:NamedThing	Bruck syndrome 2	Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.	DOVES_relaxed.owl
MONDO:0012536	biolink:NamedThing	osteogenesis imperfecta type 7	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene.	DOVES_relaxed.owl
MONDO:0012581	biolink:NamedThing	osteogenesis imperfecta type 8	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene.	DOVES_relaxed.owl
MONDO:0012591	biolink:NamedThing	osteogenesis imperfecta type 5	Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).	DOVES_relaxed.owl
MONDO:0012592	biolink:NamedThing	osteogenesis imperfecta type 11	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene.	DOVES_relaxed.owl
MONDO:0013051	biolink:NamedThing	autosomal recessive cutis laxa type 2B	Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.	DOVES_relaxed.owl
MONDO:0013459	biolink:NamedThing	osteogenesis imperfecta type 10	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene.	DOVES_relaxed.owl
MONDO:0013460	biolink:NamedThing	osteogenesis imperfecta type 12	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene.	DOVES_relaxed.owl
MONDO:0013515	biolink:NamedThing	osteogenesis imperfecta type 6	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene.	DOVES_relaxed.owl
MONDO:0013889	biolink:NamedThing	short stature-optic atrophy-Pelger-HuC+t anomaly syndrome		DOVES_relaxed.owl
MONDO:0014029	biolink:NamedThing	osteogenesis imperfecta type 14	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene.	DOVES_relaxed.owl
MONDO:0014086	biolink:NamedThing	osteogenesis imperfecta type 15	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene.	DOVES_relaxed.owl
MONDO:0014544	biolink:NamedThing	osteogenesis imperfecta type 16	An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11.	DOVES_relaxed.owl
MONDO:0014573	biolink:NamedThing	Cole-Carpenter syndrome 2	Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.	DOVES_relaxed.owl
MONDO:0014575	biolink:NamedThing	Singleton-Merten syndrome 2	Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.	DOVES_relaxed.owl
MONDO:0014672	biolink:NamedThing	osteogenesis imperfecta type 17	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene.	DOVES_relaxed.owl
MONDO:0018163	biolink:NamedThing	autosomal recessive cutis laxa type 2A	An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.	DOVES_relaxed.owl
MONDO:0020682	biolink:NamedThing	Ehlers-Danlos syndrome, spondylodysplastic type, 1		DOVES_relaxed.owl
MONDO:0024535	biolink:NamedThing	Singleton-Merten syndrome 1	Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.	DOVES_relaxed.owl
MONDO:0044329	biolink:NamedThing	osteogenesis imperfecta, type 18	Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}).	DOVES_relaxed.owl
MONDO:0049223	biolink:NamedThing	osteogenesis imperfecta, type 19		DOVES_relaxed.owl
MONDO:0005302	biolink:NamedThing	attention deficit hyperactivity disorder, inattentive type	A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life.	DOVES_relaxed.owl
MONDO:0005309	biolink:NamedThing	spinal fracture	Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting.	DOVES_relaxed.owl
MONDO:0005325	biolink:NamedThing	radius fracture	Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken.	DOVES_relaxed.owl
MONDO:0100075	biolink:NamedThing	jaw fracture	A traumatic or pathologic injury to the jaw in which the continuity of the bone is broken.	DOVES_relaxed.owl
MONDO:0005310	biolink:NamedThing	atrial flutter	A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC)	DOVES_relaxed.owl
MONDO:0100008	biolink:NamedThing	food protein-induced enterocolitis syndrome	An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated.	DOVES_relaxed.owl
MONDO:0005316	biolink:NamedThing	bacterial vaginosis	Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection.	DOVES_relaxed.owl
MONDO:0006014	biolink:NamedThing	vulvovaginal candidiasis	Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection.	DOVES_relaxed.owl
MONDO:0021175	biolink:NamedThing	herpetic vulvovaginitis	Infection of the vulva and the vagina caused by herpes simplex virus.	DOVES_relaxed.owl
MONDO:0030720	biolink:NamedThing	trichomonal vulvovaginitis	An vulvovaginitis caused by infection with Trichomonas vaginalis.	DOVES_relaxed.owl
MONDO:0009019	biolink:NamedThing	congenital hereditary endothelial dystrophy of cornea	A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.	DOVES_relaxed.owl
MONDO:0010426	biolink:NamedThing	X-linked endothelial corneal dystrophy	X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.	DOVES_relaxed.owl
MONDO:0020365	biolink:NamedThing	congenital hereditary endothelial dystrophy type I	Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.	DOVES_relaxed.owl
MONDO:0005324	biolink:NamedThing	seasonal allergic rhinitis	Allergic rhinitis caused by outdoor allergens.	DOVES_relaxed.owl
MONDO:0006004	biolink:NamedThing	vasomotor rhinitis	Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose.	DOVES_relaxed.owl
MONDO:0024332	biolink:NamedThing	perennial allergic rhinitis	Allergic rhinitis caused by indoor allergens and lasting year round.	DOVES_relaxed.owl
MONDO:0005339	biolink:NamedThing	androgenetic alopecia		DOVES_relaxed.owl
MONDO:0007416	biolink:NamedThing	Balkan nephropathy	A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease.	DOVES_relaxed.owl
MONDO:0012350	biolink:NamedThing	complement factor H deficiency		DOVES_relaxed.owl
MONDO:0014005	biolink:NamedThing	immunoglobulin-mediated membranoproliferative glomerulonephritis	Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation.	DOVES_relaxed.owl
MONDO:0016416	biolink:NamedThing	diphallia		DOVES_relaxed.owl
MONDO:0017285	biolink:NamedThing	penoscrotal transposition	Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).	DOVES_relaxed.owl
MONDO:0018846	biolink:NamedThing	penile agenesis	An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities.	DOVES_relaxed.owl
MONDO:0019848	biolink:NamedThing	posterior hypospadias	Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed.	DOVES_relaxed.owl
MONDO:0019849	biolink:NamedThing	isolated micropenis		DOVES_relaxed.owl
MONDO:0044644	biolink:NamedThing	congenital agenesis of the scrotum		DOVES_relaxed.owl
MONDO:0012910	biolink:NamedThing	age-related hearing impairment 1		DOVES_relaxed.owl
MONDO:0013068	biolink:NamedThing	age-related hearing impairment 2		DOVES_relaxed.owl
MONDO:0013098	biolink:NamedThing	noise induced hearing loss	A condition in which a person loses the ability to hear due to exposure to high intensity sound.	DOVES_relaxed.owl
MONDO:0019497	biolink:NamedThing	nonsyndromic genetic hearing loss	A disease characterized by hearing loss that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0020768	biolink:NamedThing	X-linked deafness		DOVES_relaxed.owl
MONDO:0021944	biolink:NamedThing	auditory neuropathy	A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.	DOVES_relaxed.owl
MONDO:0005350	biolink:NamedThing	abdominal aortic aneurysm	Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs.	DOVES_relaxed.owl
MONDO:0005396	biolink:NamedThing	thoracic aortic aneurysm	An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.	DOVES_relaxed.owl
MONDO:0005354	biolink:NamedThing	chronic hepatitis C virus infection	Chronic form of hepatitis C infection.	DOVES_relaxed.owl
MONDO:0005355	biolink:NamedThing	coronary restenosis	Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction.	DOVES_relaxed.owl
MONDO:0005357	biolink:NamedThing	Creutzfeldt Jacob disease	A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.	DOVES_relaxed.owl
MONDO:0006961	biolink:NamedThing	scrapie	A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions.	DOVES_relaxed.owl
MONDO:0018087	biolink:NamedThing	viral hemorrhagic fever	A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging.	DOVES_relaxed.owl
MONDO:0005737	biolink:NamedThing	Ebola hemorrhagic fever	A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate.	DOVES_relaxed.owl
MONDO:0018081	biolink:NamedThing	hemorrhagic fever-renal syndrome	Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.	DOVES_relaxed.owl
MONDO:0020500	biolink:NamedThing	Marburg hemorrhagic fever	Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.	DOVES_relaxed.owl
MONDO:0018468	biolink:NamedThing	proton-pump inhibitor-responsive esophageal eosinophilia	Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy.	DOVES_relaxed.owl
MONDO:0006904	biolink:NamedThing	phimosis	A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes.	DOVES_relaxed.owl
MONDO:0005624	biolink:NamedThing	atrophic thyroiditis	Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter.	DOVES_relaxed.owl
MONDO:0007699	biolink:NamedThing	Hashimoto thyroiditis	An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.	DOVES_relaxed.owl
MONDO:0018992	biolink:NamedThing	IgG4-related thyroid disease	Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease.	DOVES_relaxed.owl
MONDO:0005365	biolink:NamedThing	hearing loss disorder	A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central.	DOVES_relaxed.owl
MONDO:0005366	biolink:NamedThing	chronic hepatitis B virus infection	Chronic form of hepatitis B infection.	DOVES_relaxed.owl
MONDO:0005367	biolink:NamedThing	heroin dependence	Physical and psychological dependence on the drug heroin.	DOVES_relaxed.owl
MONDO:0005531	biolink:NamedThing	morphine dependence	Strong dependence, both physiological and emotional, upon morphine.	DOVES_relaxed.owl
MONDO:0800310	biolink:NamedThing	pregnancy loss, recurrent, 4		DOVES_relaxed.owl
MONDO:0021025	biolink:NamedThing	cirrhosis, familial, with antigenemia		DOVES_relaxed.owl
MONDO:0005407	biolink:NamedThing	childhood eosinophilic esophagitis	An eosinophilic esophagitis that starts in childhood.	DOVES_relaxed.owl
MONDO:0005413	biolink:NamedThing	cystic fibrosis associated meconium ileus	Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis.	DOVES_relaxed.owl
MONDO:0013843	biolink:NamedThing	intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency	Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene.	DOVES_relaxed.owl
MONDO:0005416	biolink:NamedThing	osteoarthritis, knee	Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)	DOVES_relaxed.owl
MONDO:0006629	biolink:NamedThing	osteoarthritis, hip	Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion.	DOVES_relaxed.owl
MONDO:0006630	biolink:NamedThing	osteoarthritis, spine	A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte).	DOVES_relaxed.owl
MONDO:0006631	biolink:NamedThing	osteoarthritis, toe	Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle.	DOVES_relaxed.owl
MONDO:0006632	biolink:NamedThing	osteoarthritis, hand	Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children).	DOVES_relaxed.owl
MONDO:0005417	biolink:NamedThing	wet macular degeneration	A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision.	DOVES_relaxed.owl
MONDO:0007932	biolink:NamedThing	age related macular degeneration 2	An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.	DOVES_relaxed.owl
MONDO:0011285	biolink:NamedThing	age related macular degeneration 1	An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.	DOVES_relaxed.owl
MONDO:0012145	biolink:NamedThing	macular degeneration, age-related, 3	Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene.	DOVES_relaxed.owl
MONDO:0012419	biolink:NamedThing	age related macular degeneration 7	Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene.	DOVES_relaxed.owl
MONDO:0012540	biolink:NamedThing	age related macular degeneration 4	Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene.	DOVES_relaxed.owl
MONDO:0012659	biolink:NamedThing	age related macular degeneration 9	Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene.	DOVES_relaxed.owl
MONDO:0012674	biolink:NamedThing	age related macular degeneration 10	Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene.	DOVES_relaxed.owl
MONDO:0012767	biolink:NamedThing	age related macular degeneration 11	Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene.	DOVES_relaxed.owl
MONDO:0013406	biolink:NamedThing	age related macular degeneration 6	Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene.	DOVES_relaxed.owl
MONDO:0013416	biolink:NamedThing	age related macular degeneration 8	Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene.	DOVES_relaxed.owl
MONDO:0013420	biolink:NamedThing	age related macular degeneration 12	Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene.	DOVES_relaxed.owl
MONDO:0014207	biolink:NamedThing	age related macular degeneration 14	An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.	DOVES_relaxed.owl
MONDO:0014515	biolink:NamedThing	macular dystrophy with central cone involvement		DOVES_relaxed.owl
MONDO:0019353	biolink:NamedThing	Stargardt disease	Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.	DOVES_relaxed.owl
MONDO:0100114	biolink:NamedThing	dry age related macular degeneration	Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy.	DOVES_relaxed.owl
MONDO:0005424	biolink:NamedThing	elephantiasis	Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph.	DOVES_relaxed.owl
MONDO:0019313	biolink:NamedThing	lymphatic malformation	Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation.	DOVES_relaxed.owl
MONDO:0005425	biolink:NamedThing	podoconiosis	A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils.	DOVES_relaxed.owl
MONDO:0005433	biolink:NamedThing	alcohol withdrawal		DOVES_relaxed.owl
MONDO:0005566	biolink:NamedThing	neonatal abstinence syndrome	A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors.	DOVES_relaxed.owl
MONDO:0700046	biolink:NamedThing	baclofen withdrawal syndrome	Withdrawal syndrome involving the abrupt discontinuation of baclofen therapy (intrathecal or oral). Baclofen withdrawal syndrome can result in high fever, altered mental status (including agitation, insomnia, confusion, delusions, hallucinations, seizures, visual changes, or psychosis), and potentially profound muscular rigidity that sometimes progresses to fatal rhabdomyolysis.	DOVES_relaxed.owl
MONDO:0005434	biolink:NamedThing	skin sensitivity to sun	The response of human skin to sun exposure.	DOVES_relaxed.owl
MONDO:0006597	biolink:NamedThing	photosensitivity disease	Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.	DOVES_relaxed.owl
MONDO:0006598	biolink:NamedThing	phototoxic dermatitis	Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight.	DOVES_relaxed.owl
MONDO:0041182	biolink:NamedThing	polymorphic light eruption		DOVES_relaxed.owl
MONDO:0009299	biolink:NamedThing	46 XX gonadal dysgenesis	46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.	DOVES_relaxed.owl
MONDO:0010765	biolink:NamedThing	46,XY complete gonadal dysgenesis	46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.	DOVES_relaxed.owl
MONDO:0005439	biolink:NamedThing	familial hypercholesterolemia	An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.	DOVES_relaxed.owl
MONDO:0007759	biolink:NamedThing	hyperlipidemia, familial combined, LPL related		DOVES_relaxed.owl
MONDO:0007761	biolink:NamedThing	hyperlipoproteinemia type IV	A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration.	DOVES_relaxed.owl
MONDO:0007762	biolink:NamedThing	hyperlipoproteinemia type V	A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.	DOVES_relaxed.owl
MONDO:0007788	biolink:NamedThing	hypertriglyceridemia, familial	An instance of hypertriglyceridemia (disease) that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0008810	biolink:NamedThing	familial apolipoprotein C-II deficiency		DOVES_relaxed.owl
MONDO:0009387	biolink:NamedThing	familial lipoprotein lipase deficiency	Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.	DOVES_relaxed.owl
MONDO:0011470	biolink:NamedThing	hyperlipidemia, combined, 2		DOVES_relaxed.owl
MONDO:0018473	biolink:NamedThing	hyperlipoproteinemia type 3	Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.	DOVES_relaxed.owl
MONDO:0011374	biolink:NamedThing	hypercholesterolemia, familial, 4	An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.	DOVES_relaxed.owl
MONDO:0005859	biolink:NamedThing	mucocutaneous leishmaniasis	The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust.	DOVES_relaxed.owl
MONDO:0005460	biolink:NamedThing	swine influenza	An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness.	DOVES_relaxed.owl
MONDO:0018695	biolink:NamedThing	avian influenza	Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry.	DOVES_relaxed.owl
MONDO:0017046	biolink:NamedThing	neuroepithelioma	Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation.	DOVES_relaxed.owl
MONDO:0005463	biolink:NamedThing	aortic valve calcification	Calcification of the aortic valve	DOVES_relaxed.owl
MONDO:0006655	biolink:NamedThing	aortic valve prolapse	The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation.	DOVES_relaxed.owl
MONDO:0007194	biolink:NamedThing	familial bicuspid aortic valve	A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).	DOVES_relaxed.owl
MONDO:0042981	biolink:NamedThing	aortic valve stenosis	Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever.	DOVES_relaxed.owl
MONDO:0005467	biolink:NamedThing	occupation-related stress disorder	The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope.	DOVES_relaxed.owl
MONDO:0006589	biolink:NamedThing	occupational dermatitis	Contact dermatitis associated with allergens or irritants found in the workplace.	DOVES_relaxed.owl
MONDO:0005475	biolink:NamedThing	migraine with aura	A migraine disorder characterized by episodes that are preceded by focal neurological symptoms.	DOVES_relaxed.owl
MONDO:0100431	biolink:NamedThing	migraine without aura	A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms.	DOVES_relaxed.owl
MONDO:0020575	biolink:NamedThing	polymorphic ventricular tachycardia	A ventricular tachycardia that is irregular in rate and rhythm.	DOVES_relaxed.owl
MONDO:0005481	biolink:NamedThing	contact dermatitis due to nickel	A form of allergic contact dermatitis that results from exposure to nickel	DOVES_relaxed.owl
MONDO:0006564	biolink:NamedThing	irritant dermatitis	An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site.	DOVES_relaxed.owl
MONDO:0005488	biolink:NamedThing	adolescent idiopathic scoliosis	A scoliosis with no known cause arising in adolescent.	DOVES_relaxed.owl
MONDO:0100076	biolink:NamedThing	juvenile idiopathic scoliosis	A scoliosis with no known cause arising in a juvenile.	DOVES_relaxed.owl
MONDO:0020688	biolink:NamedThing	spinal cord ischemia	Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue.	DOVES_relaxed.owl
MONDO:0800373	biolink:NamedThing	carbon monoxide poisoning	A poisoning that is caused by exposure to carbon monoxide.	DOVES_relaxed.owl
MONDO:0700079	biolink:NamedThing	hormone receptor-positive breast cancer	A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and is negative for expression of human epidermal growth factor receptor 2 (HER2).	DOVES_relaxed.owl
MONDO:0020125	biolink:NamedThing	acquired neuromuscular junction disease	An instance of neuromuscular junction disease that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0018743	biolink:NamedThing	immune-mediated acquired neuromuscular junction disease		DOVES_relaxed.owl
MONDO:0023149	biolink:NamedThing	infection due to clostridium perfringens		DOVES_relaxed.owl
MONDO:0005500	biolink:NamedThing	congenital disorder of glycosylation type I	A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.	DOVES_relaxed.owl
MONDO:0005501	biolink:NamedThing	congenital disorder of glycosylation type II	A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.	DOVES_relaxed.owl
MONDO:0013440	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2P	Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.	DOVES_relaxed.owl
MONDO:0017740	biolink:NamedThing	disorder of protein N-glycosylation	A disease that has its basis in the disruption of protein N-linked glycosylation.	DOVES_relaxed.owl
MONDO:0017741	biolink:NamedThing	disorder of protein O-glycosylation	A disease that has its basis in the disruption of protein O-linked glycosylation.	DOVES_relaxed.owl
MONDO:0017749	biolink:NamedThing	disorder of multiple glycosylation		DOVES_relaxed.owl
MONDO:0022622	biolink:NamedThing	congenital disorder of glycosylation syndrome type 4		DOVES_relaxed.owl
MONDO:0060720	biolink:NamedThing	congenital disorder of glycosylation with defective fucosylation		DOVES_relaxed.owl
MONDO:0800353	biolink:NamedThing	congenital disorder of glycosylation, type Ibb		DOVES_relaxed.owl
MONDO:0017742	biolink:NamedThing	disorder of O-xylosylglycan synthesis		DOVES_relaxed.owl
MONDO:0007526	biolink:NamedThing	Ehlers-Danlos syndrome, spondylodysplastic type	A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.	DOVES_relaxed.owl
MONDO:0007738	biolink:NamedThing	spondyloepiphyseal dysplasia with congenital joint dislocations	CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.	DOVES_relaxed.owl
MONDO:0014731	biolink:NamedThing	seizures-scoliosis-macrocephaly syndrome	Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.	DOVES_relaxed.owl
MONDO:0013870	biolink:NamedThing	TMEM165-congenital disorder of glycosylation	TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).	DOVES_relaxed.owl
MONDO:0014165	biolink:NamedThing	multiple congenital anomalies-hypotonia-seizures syndrome 3	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.	DOVES_relaxed.owl
MONDO:0017413	biolink:NamedThing	Reunion island Larsen syndrome		DOVES_relaxed.owl
MONDO:0005518	biolink:NamedThing	pseudohermaphroditism	A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.	DOVES_relaxed.owl
MONDO:0005533	biolink:NamedThing	distal colitis	Particular variety of ulcerative colitis where only the left half of the colon is inflamed.	DOVES_relaxed.owl
MONDO:0005536	biolink:NamedThing	pancolitis	Ulcerative colitis that involves the entire colon.	DOVES_relaxed.owl
MONDO:0005543	biolink:NamedThing	autoimmune hepatitis type 1	Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA).	DOVES_relaxed.owl
MONDO:0021176	biolink:NamedThing	autoimmune hepatitis type 2	Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies.	DOVES_relaxed.owl
MONDO:0021177	biolink:NamedThing	autoimmune hepatitis type 3	Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens.	DOVES_relaxed.owl
MONDO:0035400	biolink:NamedThing	seronegative autoimmune hepatitis	A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed.	DOVES_relaxed.owl
MONDO:0017592	biolink:NamedThing	staphylococcal toxemia		DOVES_relaxed.owl
MONDO:0005562	biolink:NamedThing	age-related hearing impairment	Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males.	DOVES_relaxed.owl
MONDO:0020678	biolink:NamedThing	sensorineural hearing loss disorder	Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).	DOVES_relaxed.owl
MONDO:0043373	biolink:NamedThing	sudden sensorineural hearing loss	Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning.	DOVES_relaxed.owl
MONDO:0800178	biolink:NamedThing	platinum-induced ototoxicity	Progressive, bilateral, and irreversible sensorineural hearing loss as a frequently encountered side effect of platinum-based chemotherapy such as cisplatin and carboplatin.	DOVES_relaxed.owl
MONDO:0005563	biolink:NamedThing	nut midline carcinoma	A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene.	DOVES_relaxed.owl
MONDO:0006411	biolink:NamedThing	sinonasal undifferentiated carcinoma	A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor.	DOVES_relaxed.owl
MONDO:0021537	biolink:NamedThing	undifferentiated carcinoma of nasopharynx	A undifferentiated carcinoma that involves the nasopharynx.	DOVES_relaxed.owl
MONDO:0005576	biolink:NamedThing	cryoglobulinemia	Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause.	DOVES_relaxed.owl
MONDO:0017979	biolink:NamedThing	autoimmune lymphoproliferative syndrome	Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.	DOVES_relaxed.owl
MONDO:0043789	biolink:NamedThing	serum sickness	Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction.	DOVES_relaxed.owl
MONDO:0005583	biolink:NamedThing	non-human animal disease	A disease that occurs in animals.	DOVES_relaxed.owl
MONDO:0008941	biolink:NamedThing	hepatic fibrosis-renal cysts-intellectual disability syndrome	A rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.	DOVES_relaxed.owl
MONDO:0014000	biolink:NamedThing	congenital heart defects, multiple types, 2	Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene.	DOVES_relaxed.owl
MONDO:0015203	biolink:NamedThing	coronary artery congenital malformation		DOVES_relaxed.owl
MONDO:0015449	biolink:NamedThing	criss-cross heart	Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.	DOVES_relaxed.owl
MONDO:0015677	biolink:NamedThing	cardiac diverticulum	Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.	DOVES_relaxed.owl
MONDO:0017300	biolink:NamedThing	congenital pericardium anomaly	Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst).	DOVES_relaxed.owl
MONDO:0018185	biolink:NamedThing	congenital anomaly of the great veins		DOVES_relaxed.owl
MONDO:0018664	biolink:NamedThing	ectopia cordis	A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations.	DOVES_relaxed.owl
MONDO:0020284	biolink:NamedThing	heart position anomaly		DOVES_relaxed.owl
MONDO:0020292	biolink:NamedThing	congenital anomaly of the great arteries		DOVES_relaxed.owl
MONDO:0020294	biolink:NamedThing	atrial defect and interatrial communication		DOVES_relaxed.owl
MONDO:0020428	biolink:NamedThing	congenital Gerbode defect		DOVES_relaxed.owl
MONDO:0600027	biolink:NamedThing	congenital right-sided heart lesions	Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth.	DOVES_relaxed.owl
MONDO:0800321	biolink:NamedThing	congenital heart defects, multiple types, 1, X-linked		DOVES_relaxed.owl
MONDO:0005619	biolink:NamedThing	typhoid fever	A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics.	DOVES_relaxed.owl
MONDO:0017944	biolink:NamedThing	invasive non-typhoidal salmonellosis	Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed.	DOVES_relaxed.owl
MONDO:0018626	biolink:NamedThing	paratyphoid fever	A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi.	DOVES_relaxed.owl
MONDO:8000004	biolink:NamedThing	salmonella discitis	Discitis caused by infection with Salmonella.	DOVES_relaxed.owl
MONDO:0008947	biolink:NamedThing	bilateral striopallidodentate calcinosis	A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.	DOVES_relaxed.owl
MONDO:0015548	biolink:NamedThing	Huntington disease-like syndrome		DOVES_relaxed.owl
MONDO:0017132	biolink:NamedThing	hereditary ATTR amyloidosis		DOVES_relaxed.owl
MONDO:0017810	biolink:NamedThing	variant ABeta2M amyloidosis	A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.	DOVES_relaxed.owl
MONDO:0800127	biolink:NamedThing	pulmonary amyloidosis	A rare hereditary amyloidosis that incorporates deposition of amyloid microfibril material in the lung parenchyma.	DOVES_relaxed.owl
MONDO:0005639	biolink:NamedThing	AIDS related complex	A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids.	DOVES_relaxed.owl
MONDO:0005797	biolink:NamedThing	HIV wasting syndrome	Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611).	DOVES_relaxed.owl
MONDO:0022839	biolink:NamedThing	congenital human immunodeficiency virus		DOVES_relaxed.owl
MONDO:0017453	biolink:NamedThing	fetal parvovirus syndrome	Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis.	DOVES_relaxed.owl
MONDO:0005645	biolink:NamedThing	ancylostomiasis	Infection by hookworms of the genus Ancylostoma.	DOVES_relaxed.owl
MONDO:0005973	biolink:NamedThing	Strongylida infectious disease	Infections with nematodes of the order strongylida.	DOVES_relaxed.owl
MONDO:0005880	biolink:NamedThing	oesophagostomiasis	Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans.	DOVES_relaxed.owl
MONDO:0005994	biolink:NamedThing	trichostrongyloidiasis	Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus.	DOVES_relaxed.owl
MONDO:0005652	biolink:NamedThing	Arterivirus infectious disease	Infections caused by viruses of the family arteriviridae.	DOVES_relaxed.owl
MONDO:0005718	biolink:NamedThing	Coronaviridae infectious disease	Virus diseases caused by coronaviridae.	DOVES_relaxed.owl
MONDO:0005986	biolink:NamedThing	torovirus infectious disease	Infections with viruses of the genus torovirus, family coronaviridae.	DOVES_relaxed.owl
MONDO:0005680	biolink:NamedThing	Brill-Zinsser disease	A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii.	DOVES_relaxed.owl
MONDO:0020571	biolink:NamedThing	relapsing epidemic typhus		DOVES_relaxed.owl
MONDO:0007188	biolink:NamedThing	primary basilar invagination	Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction.	DOVES_relaxed.owl
MONDO:0019357	biolink:NamedThing	congenital narrowing of cervical spinal canal	Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.	DOVES_relaxed.owl
MONDO:0019529	biolink:NamedThing	radiation myelitis	A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation.	DOVES_relaxed.owl
MONDO:0005691	biolink:NamedThing	cardiovirus infectious disease	Infections caused by viruses of the genus cardiovirus, family picornaviridae.	DOVES_relaxed.owl
MONDO:0005747	biolink:NamedThing	enterovirus infectious disease	An disease caused by infection with Enterovirus.	DOVES_relaxed.owl
MONDO:0005697	biolink:NamedThing	cerebral toxoplasmosis	Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)	DOVES_relaxed.owl
MONDO:0005989	biolink:NamedThing	toxoplasmosis	A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii.	DOVES_relaxed.owl
MONDO:0015215	biolink:NamedThing	non-syndromic diaphragmatic or abdominal wall malformation	A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0009264	biolink:NamedThing	gastroschisis	Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.	DOVES_relaxed.owl
MONDO:0018847	biolink:NamedThing	omphalomesenteric cyst		DOVES_relaxed.owl
MONDO:0019015	biolink:NamedThing	omphalocele	Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.	DOVES_relaxed.owl
MONDO:0019765	biolink:NamedThing	Celosomia		DOVES_relaxed.owl
MONDO:0017361	biolink:NamedThing	congenital rubella syndrome	An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.	DOVES_relaxed.owl
MONDO:0017375	biolink:NamedThing	congenital enterovirus infection	Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn.	DOVES_relaxed.owl
MONDO:0005719	biolink:NamedThing	Coronavinae infectious disease	Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine).	DOVES_relaxed.owl
MONDO:0005740	biolink:NamedThing	Echovirus infectious disease	Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses.	DOVES_relaxed.owl
MONDO:0023071	biolink:NamedThing	enterovirus antenatal infection		DOVES_relaxed.owl
MONDO:0024618	biolink:NamedThing	poliovirus infection	An disease or disorder caused by infection with Enterovirus C.	DOVES_relaxed.owl
MONDO:0005725	biolink:NamedThing	cyclosporiasis	A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain.	DOVES_relaxed.owl
MONDO:0018769	biolink:NamedThing	isosporiasis	An intestinal infection with Isospora belli.	DOVES_relaxed.owl
MONDO:0018903	biolink:NamedThing	sarcocystosis	Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism.	DOVES_relaxed.owl
MONDO:0005838	biolink:NamedThing	mansonelliasis	A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia.	DOVES_relaxed.owl
MONDO:0016566	biolink:NamedThing	loiasis	Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis.	DOVES_relaxed.owl
MONDO:0005743	biolink:NamedThing	encephalitozoonosis	Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium.	DOVES_relaxed.owl
MONDO:0005754	biolink:NamedThing	epilepsy with generalized tonic-clonic seizures	A generalized tonic-clonic seizure.	DOVES_relaxed.owl
MONDO:0100030	biolink:NamedThing	adolescent/adult-onset epilepsy syndrome	An epilepsy syndrome that has an onset during the adolescent or adult stage of life.	DOVES_relaxed.owl
MONDO:0100031	biolink:NamedThing	adolescent/adult onset autosomal dominant epilepsy with auditory features	A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.	DOVES_relaxed.owl
MONDO:0100032	biolink:NamedThing	familial temporal lobe epilepsy syndrome	This syndrome is identified in an individual who has seizures with temporal lobe features with a family history of similar seizures. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.	DOVES_relaxed.owl
MONDO:0005813	biolink:NamedThing	interdigitating dendritic cell sarcoma	A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)	DOVES_relaxed.owl
MONDO:0019480	biolink:NamedThing	Langerhans cell sarcoma	A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0019482	biolink:NamedThing	dendritic cell sarcoma not otherwise specified		DOVES_relaxed.owl
MONDO:0006893	biolink:NamedThing	Pasteurella hemorrhagic septicemia	Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans.	DOVES_relaxed.owl
MONDO:0042972	biolink:NamedThing	meningococcemia		DOVES_relaxed.owl
MONDO:0700217	biolink:NamedThing	neonatal sepsis	Bacterial infection in the bloodstream of newborn infants younger than 28 days old.	DOVES_relaxed.owl
MONDO:0043988	biolink:NamedThing	zoster sine herpete	Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult.	DOVES_relaxed.owl
MONDO:0005771	biolink:NamedThing	geographic tongue	A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment.	DOVES_relaxed.owl
MONDO:0005778	biolink:NamedThing	haemonchiasis	Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation.	DOVES_relaxed.owl
MONDO:0005891	biolink:NamedThing	ostertagiasis	A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia.	DOVES_relaxed.owl
MONDO:0005995	biolink:NamedThing	trichostrongylosis	Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin.	DOVES_relaxed.owl
MONDO:0023153	biolink:NamedThing	tuberculous ascites	A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum.	DOVES_relaxed.owl
MONDO:0005796	biolink:NamedThing	HIV enteropathy	A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)	DOVES_relaxed.owl
MONDO:0005798	biolink:NamedThing	HIV-associated nephropathy	Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings.	DOVES_relaxed.owl
MONDO:0018628	biolink:NamedThing	HIV-associated cancer		DOVES_relaxed.owl
MONDO:0011303	biolink:NamedThing	focal segmental glomerulosclerosis 1	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.	DOVES_relaxed.owl
MONDO:0011390	biolink:NamedThing	focal segmental glomerulosclerosis 2	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene.	DOVES_relaxed.owl
MONDO:0013191	biolink:NamedThing	focal segmental glomerulosclerosis 5	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene.	DOVES_relaxed.owl
MONDO:0013589	biolink:NamedThing	focal segmental glomerulosclerosis 6	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene.	DOVES_relaxed.owl
MONDO:0014451	biolink:NamedThing	focal segmental glomerulosclerosis 7	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene.	DOVES_relaxed.owl
MONDO:0014462	biolink:NamedThing	focal segmental glomerulosclerosis 8	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene.	DOVES_relaxed.owl
MONDO:0014539	biolink:NamedThing	focal segmental glomerulosclerosis 9	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.	DOVES_relaxed.owl
MONDO:0005804	biolink:NamedThing	hyperprolactinemia	Abnormally high level of prolactin in the blood.	DOVES_relaxed.owl
MONDO:0006793	biolink:NamedThing	hyperpituitarism	Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma.	DOVES_relaxed.owl
MONDO:0019933	biolink:NamedThing	acromegaly	Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.	DOVES_relaxed.owl
MONDO:0020528	biolink:NamedThing	ACTH-dependent Cushing syndrome	Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).	DOVES_relaxed.owl
MONDO:0005954	biolink:NamedThing	screw worm infectious disease	Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A.	DOVES_relaxed.owl
MONDO:0015623	biolink:NamedThing	cavitary myiasis	Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.	DOVES_relaxed.owl
MONDO:0020568	biolink:NamedThing	cutaneous myiasis		DOVES_relaxed.owl
MONDO:0018582	biolink:NamedThing	GCGR-related hyperglucagonemia		DOVES_relaxed.owl
MONDO:0019668	biolink:NamedThing	adenoma of pancreas		DOVES_relaxed.owl
MONDO:0034987	biolink:NamedThing	intraductal tubulopapillary neoplasm of pancreas		DOVES_relaxed.owl
MONDO:0017872	biolink:NamedThing	Lujo hemorrhagic fever	Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.	DOVES_relaxed.owl
MONDO:0017877	biolink:NamedThing	Brazilian hemorrhagic fever	Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.	DOVES_relaxed.owl
MONDO:0017878	biolink:NamedThing	Chapare hemorrhagic fever	Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.	DOVES_relaxed.owl
MONDO:0020487	biolink:NamedThing	Pontiac fever	Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.	DOVES_relaxed.owl
MONDO:0006681	biolink:NamedThing	Borrelia infectious disease	Infections with bacteria of the genus borrelia.	DOVES_relaxed.owl
MONDO:0005826	biolink:NamedThing	lipid pneumonia	Pneumonia due to aspiration or inhalation of various oily or fatty substances.	DOVES_relaxed.owl
MONDO:0005827	biolink:NamedThing	lipoatrophic diabetes	A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism.	DOVES_relaxed.owl
MONDO:0011027	biolink:NamedThing	diabetes mellitus, noninsulin-dependent, 1		DOVES_relaxed.owl
MONDO:0011072	biolink:NamedThing	diabetes mellitus, noninsulin-dependent, 2		DOVES_relaxed.owl
MONDO:0011363	biolink:NamedThing	diabetes mellitus, noninsulin-dependent, 3		DOVES_relaxed.owl
MONDO:0011955	biolink:NamedThing	diabetes mellitus, noninsulin-dependent, 4		DOVES_relaxed.owl
MONDO:0014488	biolink:NamedThing	diabetes mellitus, noninsulin-dependent, 5	Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene.	DOVES_relaxed.owl
MONDO:0018630	biolink:NamedThing	hereditary nonpolyposis colon cancer	Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.	DOVES_relaxed.owl
MONDO:0013196	biolink:NamedThing	Lynch syndrome 8	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene.	DOVES_relaxed.owl
MONDO:0018604	biolink:NamedThing	familial colorectal cancer type X	Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes.	DOVES_relaxed.owl
MONDO:0005844	biolink:NamedThing	chalazion	An eyelid cyst caused by the blockage of a meibomian gland.	DOVES_relaxed.owl
MONDO:0016494	biolink:NamedThing	regional variant of Guillain-Barre syndrome		DOVES_relaxed.owl
MONDO:0016496	biolink:NamedThing	pharyngeal-cervical-brachial variant of Guillain-Barre syndrome		DOVES_relaxed.owl
MONDO:0018818	biolink:NamedThing	facial diplegia with paresthesias		DOVES_relaxed.owl
MONDO:0005861	biolink:NamedThing	multidrug-resistant tuberculosis	A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs.	DOVES_relaxed.owl
MONDO:0100479	biolink:NamedThing	rifampicin-resistant tuberculosis	A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications.	DOVES_relaxed.owl
MONDO:0100482	biolink:NamedThing	extensively drug-resistant tuberculosis	A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid.	DOVES_relaxed.owl
MONDO:0100483	biolink:NamedThing	totally drug-resistant tuberculosis	A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin).	DOVES_relaxed.owl
MONDO:0005868	biolink:NamedThing	myelophthisic anemia	A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells.	DOVES_relaxed.owl
MONDO:0019283	biolink:NamedThing	nail anomaly	A epidermal appendage anomaly that involves the nail.	DOVES_relaxed.owl
MONDO:0023521	biolink:NamedThing	Judge Misch wright syndrome		DOVES_relaxed.owl
MONDO:0015133	biolink:NamedThing	quantitative and/or qualitative congenital phagocyte defect		DOVES_relaxed.owl
MONDO:0024626	biolink:NamedThing	defective phagocytic cell engulfment		DOVES_relaxed.owl
MONDO:0024630	biolink:NamedThing	defective phagocytic cell chemotaxis		DOVES_relaxed.owl
MONDO:0024632	biolink:NamedThing	defective phagocytic cell opsonization		DOVES_relaxed.owl
MONDO:0006275	biolink:NamedThing	lung giant cell carcinoma	A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion.	DOVES_relaxed.owl
MONDO:0005946	biolink:NamedThing	rhinosporidiosis	Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi.	DOVES_relaxed.owl
MONDO:0019209	biolink:NamedThing	Japanese encephalitis	A disease due to a virus transmitted by an arthropod).	DOVES_relaxed.owl
MONDO:0006913	biolink:NamedThing	pneumococcal meningitis	An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)	DOVES_relaxed.owl
MONDO:8000003	biolink:NamedThing	streptococcus pneumoniae discitis	Discitis caused by infection with Streptococcus pneumoniae.	DOVES_relaxed.owl
MONDO:0030707	biolink:NamedThing	Trichomonas balanoposthitis		DOVES_relaxed.owl
MONDO:0030906	biolink:NamedThing	Trichomonas tenax infectious disease	An disease or disorder caused by infection with Trichomonas tenax.	DOVES_relaxed.owl
MONDO:0005999	biolink:NamedThing	tuberculous empyema	An empyema resulting from infection by Mycobacterium tuberculosis.	DOVES_relaxed.owl
MONDO:0017871	biolink:NamedThing	bilateral massive adrenal hemorrhage		DOVES_relaxed.owl
MONDO:0006021	biolink:NamedThing	Prinzmetal angina	A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma.	DOVES_relaxed.owl
MONDO:0007123	biolink:NamedThing	ankyloblepharon filiforme adnatum-cleft palate syndrome		DOVES_relaxed.owl
MONDO:0007956	biolink:NamedThing	Pai syndrome	Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.	DOVES_relaxed.owl
MONDO:0008247	biolink:NamedThing	robin sequence-oligodactyly syndrome	Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.	DOVES_relaxed.owl
MONDO:0008402	biolink:NamedThing	cleft palate-large ears-small head syndrome	Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.	DOVES_relaxed.owl
MONDO:0008693	biolink:NamedThing	ablepharon macrostomia syndrome	Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.	DOVES_relaxed.owl
MONDO:0009021	biolink:NamedThing	Toriello-Carey syndrome	Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.	DOVES_relaxed.owl
MONDO:0009028	biolink:NamedThing	Crane-Heise syndrome	A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.	DOVES_relaxed.owl
MONDO:0009232	biolink:NamedThing	Fuhrmann syndrome	Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.	DOVES_relaxed.owl
MONDO:0009437	biolink:NamedThing	Bamforth-Lazarus syndrome	Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.	DOVES_relaxed.owl
MONDO:0010111	biolink:NamedThing	odontotrichomelic syndrome	Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0010531	biolink:NamedThing	contractures-ectodermal dysplasia-cleft lip/palate syndrome	Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.	DOVES_relaxed.owl
MONDO:0010560	biolink:NamedThing	cleft palate with or without ankyloglossia, X-linked	X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.	DOVES_relaxed.owl
MONDO:0010710	biolink:NamedThing	Pierre Robin syndrome-faciodigital anomaly syndrome	This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.	DOVES_relaxed.owl
MONDO:0011261	biolink:NamedThing	spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability	A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder.	DOVES_relaxed.owl
MONDO:0012854	biolink:NamedThing	bilateral microtia-deafness-cleft palate syndrome	This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	DOVES_relaxed.owl
MONDO:0012997	biolink:NamedThing	cholestasis-pigmentary retinopathy-cleft palate syndrome	Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated.	DOVES_relaxed.owl
MONDO:0015782	biolink:NamedThing	dysmorphism-cleft palate-loose skin syndrome	Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.	DOVES_relaxed.owl
MONDO:0016059	biolink:NamedThing	cleft lip/palate-deafness-sacral lipoma syndrome	Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.	DOVES_relaxed.owl
MONDO:0016604	biolink:NamedThing	dysraphism-cleft lip/palate-limb reduction defects syndrome		DOVES_relaxed.owl
MONDO:0017331	biolink:NamedThing	Pilotto syndrome	Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975.	DOVES_relaxed.owl
MONDO:0017981	biolink:NamedThing	syngnathia-cleft palate syndrome		DOVES_relaxed.owl
MONDO:0018046	biolink:NamedThing	thrombocytopenia-robin sequence syndrome		DOVES_relaxed.owl
MONDO:0006095	biolink:NamedThing	atypical carcinoid tumor	A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism.	DOVES_relaxed.owl
MONDO:0006065	biolink:NamedThing	lactose intolerance adult type	Adult onset lactose intolerance	DOVES_relaxed.owl
MONDO:0006073	biolink:NamedThing	adenomatoid odontogenic tumor	A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare.	DOVES_relaxed.owl
MONDO:0006166	biolink:NamedThing	columnar cell hyperplasia of the breast	A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini.	DOVES_relaxed.owl
MONDO:0006169	biolink:NamedThing	complex endometrial hyperplasia	A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent.	DOVES_relaxed.owl
MONDO:0006193	biolink:NamedThing	endometrial hyperplasia without atypia	Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia.	DOVES_relaxed.owl
MONDO:0006410	biolink:NamedThing	simple endometrial hyperplasia	A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent.	DOVES_relaxed.owl
MONDO:0016322	biolink:NamedThing	neuroendocrine cell hyperplasia of infancy	Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure.	DOVES_relaxed.owl
MONDO:0017342	biolink:NamedThing	Epstein-Barr virus-related tumor		DOVES_relaxed.owl
MONDO:0022022	biolink:NamedThing	bowenoid papulosis	Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported.	DOVES_relaxed.owl
MONDO:0018648	biolink:NamedThing	Keratocystic odontogenic tumor	An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence.	DOVES_relaxed.owl
MONDO:0006087	biolink:NamedThing	appendix adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the vermiform appendix.	DOVES_relaxed.owl
MONDO:0021290	biolink:NamedThing	carcinoma in situ of appendix	A in situ carcinoma that involves the vermiform appendix.	DOVES_relaxed.owl
MONDO:0006156	biolink:NamedThing	colon sessile serrated adenoma/polyp	A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability.	DOVES_relaxed.owl
MONDO:0006498	biolink:NamedThing	adenomatous colon polyp	A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous.	DOVES_relaxed.owl
MONDO:0006091	biolink:NamedThing	appendix neuroendocrine tumor G1	A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	DOVES_relaxed.owl
MONDO:0018016	biolink:NamedThing	classic neuroendocrine tumor of appendix	Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.	DOVES_relaxed.owl
MONDO:0021101	biolink:NamedThing	appendix L-cell glucagon-like peptide-producing neuroendocrine tumor	A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.	DOVES_relaxed.owl
MONDO:0006092	biolink:NamedThing	appendix villous adenoma	An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia.	DOVES_relaxed.owl
MONDO:0006093	biolink:NamedThing	ascending colon neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	DOVES_relaxed.owl
MONDO:0006250	biolink:NamedThing	ileal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	DOVES_relaxed.owl
MONDO:0036688	biolink:NamedThing	rhabdomyoma	A benign mesenchymal tumor arising from skeletal or cardiac muscle.	DOVES_relaxed.owl
MONDO:0006115	biolink:NamedThing	blast phase chronic myelogenous leukemia, BCR-ABL1 positive	An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001).	DOVES_relaxed.owl
MONDO:0010809	biolink:NamedThing	familial chronic myelocytic leukemia-like syndrome	A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).	DOVES_relaxed.owl
MONDO:0021367	biolink:NamedThing	leukemia, myeloid, accelerated-phase	The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis.	DOVES_relaxed.owl
MONDO:0006226	biolink:NamedThing	gastric mucosa-associated lymphoid tissue lymphoma	A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy.	DOVES_relaxed.owl
MONDO:0006420	biolink:NamedThing	small intestinal mucosa-associated lymphoid tissue lymphoma	A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine.	DOVES_relaxed.owl
MONDO:0006464	biolink:NamedThing	thyroid gland mucosa-associated lymphoid tissue lymphoma	An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis.	DOVES_relaxed.owl
MONDO:0006128	biolink:NamedThing	central nervous system anaplastic large cell lymphoma	An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord.	DOVES_relaxed.owl
MONDO:0017598	biolink:NamedThing	primary cutaneous anaplastic large cell lymphoma	Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features.	DOVES_relaxed.owl
MONDO:0017602	biolink:NamedThing	ALK-positive anaplastic large cell lymphoma	ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK).	DOVES_relaxed.owl
MONDO:0017603	biolink:NamedThing	ALK-negative anaplastic large cell lymphoma	ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK).	DOVES_relaxed.owl
MONDO:0021879	biolink:NamedThing	small cell variant anaplastic large cell lymphoma	A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei.	DOVES_relaxed.owl
MONDO:0016696	biolink:NamedThing	anaplastic oligodendroglioma	A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity).	DOVES_relaxed.owl
MONDO:0016703	biolink:NamedThing	anaplastic oligoastrocytoma	An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity.	DOVES_relaxed.owl
MONDO:0016726	biolink:NamedThing	neuronal tumor		DOVES_relaxed.owl
MONDO:0006137	biolink:NamedThing	cervical intraepithelial neoplasia grade 2/3	A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia.	DOVES_relaxed.owl
MONDO:0022394	biolink:NamedThing	cervical intraepithelial neoplasia		DOVES_relaxed.owl
MONDO:0006146	biolink:NamedThing	chondroid hamartoma	A hamartoma that is characterized by the presence of chondroid elements.	DOVES_relaxed.owl
MONDO:0016986	biolink:NamedThing	congenital smooth muscle hamartoma	Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.	DOVES_relaxed.owl
MONDO:0021977	biolink:NamedThing	basaloid follicular hamartoma	A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy.	DOVES_relaxed.owl
MONDO:0022453	biolink:NamedThing	angiomyomatous hamartoma	An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node.	DOVES_relaxed.owl
MONDO:0023238	biolink:NamedThing	giant mammary hamartoma		DOVES_relaxed.owl
MONDO:0024478	biolink:NamedThing	mesenchymal hamartoma		DOVES_relaxed.owl
MONDO:0100290	biolink:NamedThing	colon serrated polyposis	The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon.	DOVES_relaxed.owl
MONDO:0006161	biolink:NamedThing	colorectal juvenile polyp	A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.	DOVES_relaxed.owl
MONDO:0021534	biolink:NamedThing	rectal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	DOVES_relaxed.owl
MONDO:0006258	biolink:NamedThing	juvenile polyp	A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.	DOVES_relaxed.owl
MONDO:0006365	biolink:NamedThing	Peutz-Jeghers polyp	A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002	DOVES_relaxed.owl
MONDO:0006680	biolink:NamedThing	blue nevus	An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative.	DOVES_relaxed.owl
MONDO:0006778	biolink:NamedThing	halo nevus	A benign melanocytic nevus with a halo appearance.	DOVES_relaxed.owl
MONDO:0006813	biolink:NamedThing	intradermal nevus	A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction.	DOVES_relaxed.owl
MONDO:0006905	biolink:NamedThing	pigmented spindle cell nevus	A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma.	DOVES_relaxed.owl
MONDO:0008093	biolink:NamedThing	nevus, epidermal	A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed.	DOVES_relaxed.owl
MONDO:0009755	biolink:NamedThing	neutrophil actin dysfunction	Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma.	DOVES_relaxed.owl
MONDO:0014873	biolink:NamedThing	nevus comedonicus syndrome	A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.	DOVES_relaxed.owl
MONDO:0015341	biolink:NamedThing	congenital panfollicular nevus	Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.	DOVES_relaxed.owl
MONDO:0015635	biolink:NamedThing	porokeratotic eccrine ostial and dermal duct nevus	A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb.	DOVES_relaxed.owl
MONDO:0015748	biolink:NamedThing	hereditary mucosal leukokeratosis	White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.	DOVES_relaxed.owl
MONDO:0016831	biolink:NamedThing	linear verrucous nevus syndrome		DOVES_relaxed.owl
MONDO:0016984	biolink:NamedThing	nevus of Ota	Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.	DOVES_relaxed.owl
MONDO:0016985	biolink:NamedThing	nevus of Ito	Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter.	DOVES_relaxed.owl
MONDO:0017785	biolink:NamedThing	PENS syndrome	PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.	DOVES_relaxed.owl
MONDO:0018258	biolink:NamedThing	Angora hair nevus		DOVES_relaxed.owl
MONDO:0018259	biolink:NamedThing	didymosis aplasticosebacea		DOVES_relaxed.owl
MONDO:0018260	biolink:NamedThing	scalp syndrome		DOVES_relaxed.owl
MONDO:0018261	biolink:NamedThing	Nevada syndrome	NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.	DOVES_relaxed.owl
MONDO:0020179	biolink:NamedThing	palpebral nevus	A melanocytic nevus that involves the skin of eyelid.	DOVES_relaxed.owl
MONDO:0044792	biolink:NamedThing	large congenital melanocytic nevus	A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.	DOVES_relaxed.owl
MONDO:0044794	biolink:NamedThing	benign melanocytic skin nevus	A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus.	DOVES_relaxed.owl
MONDO:0006174	biolink:NamedThing	cortisol-producing adrenal cortex adenoma	An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension.	DOVES_relaxed.owl
MONDO:0006408	biolink:NamedThing	sex hormone-producing adrenal cortex adenoma	A rare adenoma of the adrenal cortex that produces androgens or estrogens.	DOVES_relaxed.owl
MONDO:0016505	biolink:NamedThing	aldosterone-producing adrenal cortex adenoma	An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness.	DOVES_relaxed.owl
MONDO:0015683	biolink:NamedThing	primary malignant peritoneal tumor		DOVES_relaxed.owl
MONDO:0006211	biolink:NamedThing	fibrous hamartoma of infancy	A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern.	DOVES_relaxed.owl
MONDO:0006212	biolink:NamedThing	flat urothelial hyperplasia	A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003	DOVES_relaxed.owl
MONDO:0024485	biolink:NamedThing	papillary urothelial hyperplasia	A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003	DOVES_relaxed.owl
MONDO:0006213	biolink:NamedThing	floor of mouth mucoepidermoid carcinoma	A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth.	DOVES_relaxed.owl
MONDO:0023113	biolink:NamedThing	familial colorectal cancer	Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.	DOVES_relaxed.owl
MONDO:0018876	biolink:NamedThing	mantle cell lymphoma	Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''.	DOVES_relaxed.owl
MONDO:0006430	biolink:NamedThing	splenic mantle cell lymphoma	A mantle cell lymphoma occurring in the spleen.	DOVES_relaxed.owl
MONDO:0006237	biolink:NamedThing	granulocytic sarcoma	A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0017190	biolink:NamedThing	sporadic pheochromocytoma/secreting paraganglioma	Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.	DOVES_relaxed.owl
MONDO:0019788	biolink:NamedThing	non-secreting paraganglioma	Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed.	DOVES_relaxed.owl
MONDO:0021052	biolink:NamedThing	parasympathetic paraganglioma	A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas.	DOVES_relaxed.owl
MONDO:0032767	biolink:NamedThing	paragangliomas 6		DOVES_relaxed.owl
MONDO:0032771	biolink:NamedThing	paragangliomas 7		DOVES_relaxed.owl
MONDO:0006273	biolink:NamedThing	low grade fibromyxoid sarcoma with giant collagen rosettes	A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes.	DOVES_relaxed.owl
MONDO:0006274	biolink:NamedThing	low grade vulvar intraepithelial neoplasia	An intraepithelial lesion of the vulvar squamous epithelium that represents the clinical and morphological manifestation of a productive HPV infection. Low grade refers to the associated low risk of concurrent or future cancer. (WHO, 2014)	DOVES_relaxed.owl
MONDO:0006280	biolink:NamedThing	lung sclerosing hemangioma	A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic.	DOVES_relaxed.owl
MONDO:0006336	biolink:NamedThing	ovarian endometrioid adenocarcinoma with squamous differentiation	An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance.	DOVES_relaxed.owl
MONDO:0006339	biolink:NamedThing	ovarian microcystic stromal tumor	A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma.	DOVES_relaxed.owl
MONDO:0017802	biolink:NamedThing	ovarian fibrothecoma	A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).	DOVES_relaxed.owl
MONDO:0006357	biolink:NamedThing	parotid gland carcinoma ex pleomorphic adenoma	A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.	DOVES_relaxed.owl
MONDO:0006358	biolink:NamedThing	parotid gland squamous cell carcinoma	An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain.	DOVES_relaxed.owl
MONDO:0021280	biolink:NamedThing	mucoepidermoid carcinoma of parotid gland	A mucoepidermoid carcinoma that involves the parotid gland.	DOVES_relaxed.owl
MONDO:0015686	biolink:NamedThing	primary peritoneal carcinoma	Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma.	DOVES_relaxed.owl
MONDO:0006366	biolink:NamedThing	Peutz-Jeghers polyp of the stomach	A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium.	DOVES_relaxed.owl
MONDO:0016686	biolink:NamedThing	diffuse astrocytoma	A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified.	DOVES_relaxed.owl
MONDO:0016690	biolink:NamedThing	pleomorphic xanthoastrocytoma	A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults.	DOVES_relaxed.owl
MONDO:0016693	biolink:NamedThing	subependymal giant cell astrocytoma	A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)	DOVES_relaxed.owl
MONDO:0006377	biolink:NamedThing	pleural biphasic mesothelioma	Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.	DOVES_relaxed.owl
MONDO:0006378	biolink:NamedThing	pleural epithelioid mesothelioma	Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.	DOVES_relaxed.owl
MONDO:0006391	biolink:NamedThing	pyloric gland adenoma	A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed.	DOVES_relaxed.owl
MONDO:0006392	biolink:NamedThing	rectal hyperplastic polyp	A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps.	DOVES_relaxed.owl
MONDO:0006393	biolink:NamedThing	rectal traditional serrated adenoma	An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia.	DOVES_relaxed.owl
MONDO:0006394	biolink:NamedThing	rectal tubular adenoma	A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features.	DOVES_relaxed.owl
MONDO:0006395	biolink:NamedThing	rectal tubulovillous adenoma	A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.	DOVES_relaxed.owl
MONDO:0006429	biolink:NamedThing	splenic hodgkin lymphoma	A rare Hodgkin lymphoma that arises from the spleen.	DOVES_relaxed.owl
MONDO:0010273	biolink:NamedThing	lymphoma, Hodgkin, X-linked pseudoautosomal		DOVES_relaxed.owl
MONDO:0010762	biolink:NamedThing	lymphoma, Hodgkin, Y-linked pseudoautosomal		DOVES_relaxed.owl
MONDO:0044778	biolink:NamedThing	nodular lymphocyte predominant Hodgkin lymphoma	A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)	DOVES_relaxed.owl
MONDO:0021279	biolink:NamedThing	mucoepidermoid carcinoma of submandibular gland	A mucoepidermoid carcinoma that involves the submandibular gland.	DOVES_relaxed.owl
MONDO:0006466	biolink:NamedThing	thyroid gland spindle cell tumor with thymus-like differentiation	A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells.	DOVES_relaxed.owl
MONDO:0019003	biolink:NamedThing	multiple endocrine neoplasia type 2	Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC).	DOVES_relaxed.owl
MONDO:0006470	biolink:NamedThing	tonsillar squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass.	DOVES_relaxed.owl
MONDO:0006479	biolink:NamedThing	undifferentiated pancreatic carcinoma with osteoclast-like giant cells	A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells.	DOVES_relaxed.owl
MONDO:0006488	biolink:NamedThing	vaginal carcinosarcoma	An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component.	DOVES_relaxed.owl
MONDO:0006491	biolink:NamedThing	vulvar lichen sclerosus	A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia.	DOVES_relaxed.owl
MONDO:0021492	biolink:NamedThing	benign neoplasm of major salivary gland	A benign neoplasm that involves the major salivary gland.	DOVES_relaxed.owl
MONDO:0021493	biolink:NamedThing	benign neoplasm of minor salivary gland	A benign neoplasm that involves the minor salivary gland.	DOVES_relaxed.owl
MONDO:0044632	biolink:NamedThing	extracranial carotid artery aneurysm		DOVES_relaxed.owl
MONDO:0011841	biolink:NamedThing	biotin-responsive basal ganglia disease		DOVES_relaxed.owl
MONDO:0017763	biolink:NamedThing	disorder of iron metabolism and transport		DOVES_relaxed.owl
MONDO:0008787	biolink:NamedThing	microcytic anemia with liver iron overload	Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.	DOVES_relaxed.owl
MONDO:0011638	biolink:NamedThing	neuroferritinopathy	Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.	DOVES_relaxed.owl
MONDO:0006518	biolink:NamedThing	sporadic Creutzfeld Jacob disease	Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years.	DOVES_relaxed.owl
MONDO:0018686	biolink:NamedThing	acquired Creutzfeldt-Jakob disease	An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0006524	biolink:NamedThing	acrodermatitis chronica atrophicans	An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.	DOVES_relaxed.owl
MONDO:0006599	biolink:NamedThing	physical urticaria	A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously.	DOVES_relaxed.owl
MONDO:0010481	biolink:NamedThing	angioedema	Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx.	DOVES_relaxed.owl
MONDO:0015340	biolink:NamedThing	drug rash with eosinophilia and systemic symptoms	DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6.	DOVES_relaxed.owl
MONDO:0022799	biolink:NamedThing	cold urticaria	Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.	DOVES_relaxed.owl
MONDO:0006531	biolink:NamedThing	cholesteatoma of attic	A cholesteatoma in the attic	DOVES_relaxed.owl
MONDO:0006534	biolink:NamedThing	cholinergic urticaria	A type of physical urticarias (or hives) that appears when a person is sweating.	DOVES_relaxed.owl
MONDO:0006618	biolink:NamedThing	vibratory urticaria	This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.	DOVES_relaxed.owl
MONDO:0007448	biolink:NamedThing	familial dermatographia	Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may invovle use of antihistamines if symptoms do not go away on their own.	DOVES_relaxed.owl
MONDO:0006536	biolink:NamedThing	congenital generalized lipodystrophy	An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.	DOVES_relaxed.owl
MONDO:0009312	biolink:NamedThing	lipodystrophy due to peptidic growth factors deficiency	Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).	DOVES_relaxed.owl
MONDO:0013572	biolink:NamedThing	Keppen-Lubinsky syndrome		DOVES_relaxed.owl
MONDO:0015493	biolink:NamedThing	lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy		DOVES_relaxed.owl
MONDO:0020088	biolink:NamedThing	familial partial lipodystrophy	Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.	DOVES_relaxed.owl
MONDO:0027766	biolink:NamedThing	generalized lipodystrophy	Almost complete absence of subcutaneous and/or visceral adipose tissue.	DOVES_relaxed.owl
MONDO:0019193	biolink:NamedThing	acquired generalized lipodystrophy	Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).	DOVES_relaxed.owl
MONDO:0006539	biolink:NamedThing	diffuse lipomatosis	A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy.	DOVES_relaxed.owl
MONDO:0006578	biolink:NamedThing	mediastinal lipomatosis	A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum.	DOVES_relaxed.owl
MONDO:0006593	biolink:NamedThing	pelvic lipomatosis	A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males.	DOVES_relaxed.owl
MONDO:0006612	biolink:NamedThing	steroid lipomatosis	A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone.	DOVES_relaxed.owl
MONDO:0035592	biolink:NamedThing	congenital infiltrating lipomatosis of the face		DOVES_relaxed.owl
MONDO:0006543	biolink:NamedThing	epidermolysis bullosa dystrophica	A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.	DOVES_relaxed.owl
MONDO:0008260	biolink:NamedThing	Kindler syndrome	Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.	DOVES_relaxed.owl
MONDO:0017610	biolink:NamedThing	epidermolysis bullosa simplex	Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.	DOVES_relaxed.owl
MONDO:0017612	biolink:NamedThing	junctional epidermolysis bullosa	Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.	DOVES_relaxed.owl
MONDO:0008485	biolink:NamedThing	sebocystomatosis	Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.	DOVES_relaxed.owl
MONDO:0021029	biolink:NamedThing	genetic sebaceous gland anomaly	An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0021653	biolink:NamedThing	cutaneous focal mucinosis		DOVES_relaxed.owl
MONDO:0006594	biolink:NamedThing	pemphigus	Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus	DOVES_relaxed.owl
MONDO:0008218	biolink:NamedThing	Hailey-Hailey disease	Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).	DOVES_relaxed.owl
MONDO:0008219	biolink:NamedThing	pemphigus vulgaris	Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which pemphigus vulgaris is the most frequent (75%).	DOVES_relaxed.owl
MONDO:0043257	biolink:NamedThing	pemphigus and fogo selvagem		DOVES_relaxed.owl
MONDO:0006559	biolink:NamedThing	hidradenitis suppurativa	A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident.	DOVES_relaxed.owl
MONDO:0006565	biolink:NamedThing	juvenile dermatitis herpetiformis	Dermatitis herpetiformis in children	DOVES_relaxed.owl
MONDO:0015614	biolink:NamedThing	dermatitis herpetiformis	Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance.	DOVES_relaxed.owl
MONDO:0006571	biolink:NamedThing	lichen nitidus	A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses.	DOVES_relaxed.owl
MONDO:0006581	biolink:NamedThing	miliaria rubra	Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps).	DOVES_relaxed.owl
MONDO:0020814	biolink:NamedThing	miliaria alba		DOVES_relaxed.owl
MONDO:0020816	biolink:NamedThing	miliaria papulosa		DOVES_relaxed.owl
MONDO:0020817	biolink:NamedThing	miliaria vesiculosa		DOVES_relaxed.owl
MONDO:0020823	biolink:NamedThing	infantile miliaria		DOVES_relaxed.owl
MONDO:0024227	biolink:NamedThing	miliaria pustulosa	A miliaria that is characterized by pustules resulting from inflammation and bacterial infection.	DOVES_relaxed.owl
MONDO:0024228	biolink:NamedThing	miliaria profunda	A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.	DOVES_relaxed.owl
MONDO:0024229	biolink:NamedThing	miliaria crystallina	A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum.	DOVES_relaxed.owl
MONDO:0006592	biolink:NamedThing	parapsoriasis	Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids.	DOVES_relaxed.owl
MONDO:0011269	biolink:NamedThing	psoriasis 2	Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene.	DOVES_relaxed.owl
MONDO:0022205	biolink:NamedThing	pustular psoriasis		DOVES_relaxed.owl
MONDO:0023297	biolink:NamedThing	guttate psoriasis	Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy.	DOVES_relaxed.owl
MONDO:0006614	biolink:NamedThing	subcorneal pustular dermatosis	A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.	DOVES_relaxed.owl
MONDO:0018688	biolink:NamedThing	anti-p200 pemphigoid		DOVES_relaxed.owl
MONDO:0018745	biolink:NamedThing	superficial pemphigus	Pemphigus is a group of chronic autoimmune skin diseases characterised by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants.	DOVES_relaxed.owl
MONDO:0018746	biolink:NamedThing	mucous membrane pemphigoid	Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane.	DOVES_relaxed.owl
MONDO:0018747	biolink:NamedThing	acquired epidermolysis bullosa	Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB.	DOVES_relaxed.owl
MONDO:0018748	biolink:NamedThing	linear IgA Dermatosis	Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin).	DOVES_relaxed.owl
MONDO:0018974	biolink:NamedThing	paraneoplastic pemphigus	Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare.	DOVES_relaxed.owl
MONDO:0019082	biolink:NamedThing	bullous pemphigoid	Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis.	DOVES_relaxed.owl
MONDO:0034127	biolink:NamedThing	IgA pemphigus		DOVES_relaxed.owl
MONDO:0007417	biolink:NamedThing	Darier disease	Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.	DOVES_relaxed.owl
MONDO:0007507	biolink:NamedThing	absence of fingerprints-congenital milia syndrome	Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.	DOVES_relaxed.owl
MONDO:0007756	biolink:NamedThing	hyperkeratosis lenticularis perstans		DOVES_relaxed.owl
MONDO:0007854	biolink:NamedThing	keratolytic winter erythema	Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.	DOVES_relaxed.owl
MONDO:0008696	biolink:NamedThing	acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome	This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.	DOVES_relaxed.owl
MONDO:0012446	biolink:NamedThing	seborrhea-like dermatitis with psoriasiform elements		DOVES_relaxed.owl
MONDO:0016382	biolink:NamedThing	hereditary poikiloderma		DOVES_relaxed.owl
MONDO:0016503	biolink:NamedThing	congenital erosive and vesicular dermatosis		DOVES_relaxed.owl
MONDO:0018586	biolink:NamedThing	zinc-responsive necrolytic acral erythema		DOVES_relaxed.owl
MONDO:0019076	biolink:NamedThing	circumscribed palmoplantar hypokeratosis	Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin.	DOVES_relaxed.owl
MONDO:0019269	biolink:NamedThing	ichthyosis	Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies.	DOVES_relaxed.owl
MONDO:0019270	biolink:NamedThing	erythrokeratoderma	An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time.	DOVES_relaxed.owl
MONDO:0019271	biolink:NamedThing	acrokeratoderma		DOVES_relaxed.owl
MONDO:0044663	biolink:NamedThing	aquagenic palmoplantar keratoderma	Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis.	DOVES_relaxed.owl
MONDO:0400004	biolink:NamedThing	phrynoderma	Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks.	DOVES_relaxed.owl
MONDO:0006606	biolink:NamedThing	scleredema adultorum	A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis.	DOVES_relaxed.owl
MONDO:0021654	biolink:NamedThing	diffuse cutaneous mucinosis		DOVES_relaxed.owl
MONDO:0021655	biolink:NamedThing	secondary catabolic mucinosis of skin		DOVES_relaxed.owl
MONDO:0006609	biolink:NamedThing	seborrheic infantile dermatitis	Excessive shedding of dry scaly material from the scalp in humans.	DOVES_relaxed.owl
MONDO:0006621	biolink:NamedThing	vulvar inverted follicular keratosis	Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies.	DOVES_relaxed.owl
MONDO:0008390	biolink:NamedThing	Rombo syndrome	Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.	DOVES_relaxed.owl
MONDO:0008594	biolink:NamedThing	familial multiple discoid fibromas	A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation.	DOVES_relaxed.owl
MONDO:0011605	biolink:NamedThing	generalized basaloid follicular hamartoma syndrome	Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.	DOVES_relaxed.owl
MONDO:0017571	biolink:NamedThing	Proteus-like syndrome	Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease.	DOVES_relaxed.owl
MONDO:0018070	biolink:NamedThing	familial multiple fibrofolliculoma	Familial multiple fibrofolliculoma is a genodermatosis characterised by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far.	DOVES_relaxed.owl
MONDO:0018851	biolink:NamedThing	familial keratoacanthoma	Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0020178	biolink:NamedThing	palpebral lentiginosis	A lentigo that involves the skin of eyelid.	DOVES_relaxed.owl
MONDO:0006635	biolink:NamedThing	Acinetobacter infectious disease	Infections with bacteria of the genus acinetobacter.	DOVES_relaxed.owl
MONDO:0006637	biolink:NamedThing	acute kidney tubular necrosis	Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics.	DOVES_relaxed.owl
MONDO:0006647	biolink:NamedThing	anterior cerebral artery infarction	Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body.	DOVES_relaxed.owl
MONDO:0043224	biolink:NamedThing	multi-infarct dementia	A common form of dementia caused by multiple cortical or subcortical cerebral infarctions.	DOVES_relaxed.owl
MONDO:0006658	biolink:NamedThing	arteriolosclerosis	The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia.	DOVES_relaxed.owl
MONDO:0006659	biolink:NamedThing	arteriosclerosis obliterans	Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension.	DOVES_relaxed.owl
MONDO:0006660	biolink:NamedThing	arthus reaction	A localized vasculitis resulting from deposition of antibody-antigen complexes.	DOVES_relaxed.owl
MONDO:0008004	biolink:NamedThing	familial mitral valve prolapse	An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0008504	biolink:NamedThing	supravalvular aortic stenosis	SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.	DOVES_relaxed.owl
MONDO:0010753	biolink:NamedThing	cardiac valvular dysplasia, X-linked		DOVES_relaxed.owl
MONDO:0015273	biolink:NamedThing	complete atrioventricular canal	Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow.	DOVES_relaxed.owl
MONDO:0018089	biolink:NamedThing	double outlet right ventricle	Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.	DOVES_relaxed.owl
MONDO:0018758	biolink:NamedThing	familial patent arterial duct	Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.	DOVES_relaxed.owl
MONDO:0015450	biolink:NamedThing	triatrial heart	A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities.	DOVES_relaxed.owl
MONDO:0019837	biolink:NamedThing	atrial appendage anomaly		DOVES_relaxed.owl
MONDO:0020438	biolink:NamedThing	atrial septal aneurysm		DOVES_relaxed.owl
MONDO:0006665	biolink:NamedThing	chronic atrophic gastritis	Atrophic gastritis that is persistent and long-standing.	DOVES_relaxed.owl
MONDO:0006729	biolink:NamedThing	discrete subaortic stenosis	A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta.	DOVES_relaxed.owl
MONDO:0006987	biolink:NamedThing	subvalvular aortic stenosis	An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects.	DOVES_relaxed.owl
MONDO:0006730	biolink:NamedThing	drug psychosis	Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance.	DOVES_relaxed.owl
MONDO:0006744	biolink:NamedThing	endolymphatic hydrops	An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo.	DOVES_relaxed.owl
MONDO:0013138	biolink:NamedThing	vertigo, benign recurrent, 2		DOVES_relaxed.owl
MONDO:0006746	biolink:NamedThing	endomyocardial fibrosis	A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator.	DOVES_relaxed.owl
MONDO:0016340	biolink:NamedThing	familial restrictive cardiomyopathy	An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0006751	biolink:NamedThing	Erysipelothrix infectious disease	Infections with bacteria of the genus erysipelothrix.	DOVES_relaxed.owl
MONDO:0006752	biolink:NamedThing	Erysipelothrix rhusiopathiae infectious disease	A disease caused by infection with Erysipelothrix rhusiopathiae.	DOVES_relaxed.owl
MONDO:0019072	biolink:NamedThing	intrahepatic cholestasis	A cholestasis characterized by impairment of the bile flow caused by obstruction located in the liver.	DOVES_relaxed.owl
MONDO:0035777	biolink:NamedThing	parenteral nutrition-associated cholestasis	A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension.	DOVES_relaxed.owl
MONDO:0006766	biolink:NamedThing	gait apraxia	Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia.	DOVES_relaxed.owl
MONDO:0006800	biolink:NamedThing	ideomotor apraxia	A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)	DOVES_relaxed.owl
MONDO:0006770	biolink:NamedThing	giant cell reparative granuloma	A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure.	DOVES_relaxed.owl
MONDO:0006788	biolink:NamedThing	hydrophthalmos	Abnormal enlargement of the eye	DOVES_relaxed.owl
MONDO:0013121	biolink:NamedThing	glaucoma 3, primary congenital, C		DOVES_relaxed.owl
MONDO:0013122	biolink:NamedThing	glaucoma 3, primary congenital, D		DOVES_relaxed.owl
MONDO:0019838	biolink:NamedThing	adenohypophysitis	An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period.	DOVES_relaxed.owl
MONDO:0015028	biolink:NamedThing	48,XXYY syndrome	The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.	DOVES_relaxed.owl
MONDO:0016045	biolink:NamedThing	tetragametic chimerism	Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.	DOVES_relaxed.owl
MONDO:0700027	biolink:NamedThing	chromosome X disorder	Chromosomal disorder in which chromosome X is affected.	DOVES_relaxed.owl
MONDO:0016851	biolink:NamedThing	maternal uniparental disomy of chromosome X		DOVES_relaxed.owl
MONDO:0016852	biolink:NamedThing	paternal uniparental disomy of chromosome X		DOVES_relaxed.owl
MONDO:0016854	biolink:NamedThing	49,XXXYY syndrome	49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0017003	biolink:NamedThing	partial deletion of chromosome X		DOVES_relaxed.owl
MONDO:0017008	biolink:NamedThing	partial duplication of chromosome X		DOVES_relaxed.owl
MONDO:0019525	biolink:NamedThing	tetrasomy X	Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).	DOVES_relaxed.owl
MONDO:0019926	biolink:NamedThing	X small rings	X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.	DOVES_relaxed.owl
MONDO:0700065	biolink:NamedThing	trisomy	A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.	DOVES_relaxed.owl
MONDO:0015060	biolink:NamedThing	mosaic trisomy 3	Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.	DOVES_relaxed.owl
MONDO:0015706	biolink:NamedThing	mosaic trisomy 1		DOVES_relaxed.owl
MONDO:0015718	biolink:NamedThing	mosaic trisomy 12	Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.	DOVES_relaxed.owl
MONDO:0015725	biolink:NamedThing	mosaic trisomy 14	Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.	DOVES_relaxed.owl
MONDO:0015727	biolink:NamedThing	mosaic trisomy 15	Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.	DOVES_relaxed.owl
MONDO:0015730	biolink:NamedThing	mosaic trisomy 17	Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.	DOVES_relaxed.owl
MONDO:0015763	biolink:NamedThing	mosaic trisomy 2	Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.	DOVES_relaxed.owl
MONDO:0015771	biolink:NamedThing	mosaic trisomy 7	Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.	DOVES_relaxed.owl
MONDO:0018071	biolink:NamedThing	trisomy 18	Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.	DOVES_relaxed.owl
MONDO:0019339	biolink:NamedThing	47,XYY syndrome	47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.	DOVES_relaxed.owl
MONDO:0019865	biolink:NamedThing	mosaic trisomy 4	Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.	DOVES_relaxed.owl
MONDO:0019866	biolink:NamedThing	mosaic trisomy 5	Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.	DOVES_relaxed.owl
MONDO:0019868	biolink:NamedThing	mosaic trisomy 10	Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.	DOVES_relaxed.owl
MONDO:0020490	biolink:NamedThing	mosaic trisomy 9	Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0022180	biolink:NamedThing	chromosome 16 trisomy		DOVES_relaxed.owl
MONDO:0022757	biolink:NamedThing	chromosome 20 trisomy	Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization.	DOVES_relaxed.owl
MONDO:0022759	biolink:NamedThing	trisomy 22	Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR).	DOVES_relaxed.owl
MONDO:0043277	biolink:NamedThing	mosaic trisomy 6	Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997).	DOVES_relaxed.owl
MONDO:0043452	biolink:NamedThing	chromosome 8, trisomy	A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.	DOVES_relaxed.owl
MONDO:0700126	biolink:NamedThing	trisomy 21	A chromosomal disorder consisting of the presence of an extra chromosome 21.	DOVES_relaxed.owl
MONDO:0035561	biolink:NamedThing	sporadic human prion disease		DOVES_relaxed.owl
MONDO:0035562	biolink:NamedThing	acquired human prion disease		DOVES_relaxed.owl
MONDO:0006826	biolink:NamedThing	kwashiorkor	A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0006848	biolink:NamedThing	marasmus	The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses.	DOVES_relaxed.owl
MONDO:0006839	biolink:NamedThing	Lutembacher syndrome	A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis.	DOVES_relaxed.owl
MONDO:0007172	biolink:NamedThing	atrial septal defect 1	An atrial heart septal defect type 1 associated with variation in the region 5p.	DOVES_relaxed.owl
MONDO:0007173	biolink:NamedThing	atrial septal defect 7	Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.	DOVES_relaxed.owl
MONDO:0011938	biolink:NamedThing	atrial septal defect 2	Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene.	DOVES_relaxed.owl
MONDO:0012654	biolink:NamedThing	atrial septal defect 4	Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene.	DOVES_relaxed.owl
MONDO:0013011	biolink:NamedThing	atrial septal defect 5	Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene.	DOVES_relaxed.owl
MONDO:0013123	biolink:NamedThing	atrial septal defect 6	Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene.	DOVES_relaxed.owl
MONDO:0013567	biolink:NamedThing	atrial septal defect 3	Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene.	DOVES_relaxed.owl
MONDO:0013750	biolink:NamedThing	atrial septal defect 8	Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene.	DOVES_relaxed.owl
MONDO:0013770	biolink:NamedThing	atrial septal defect 9	Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene.	DOVES_relaxed.owl
MONDO:0020434	biolink:NamedThing	atrial septal defect, ostium secundum type		DOVES_relaxed.owl
MONDO:0020436	biolink:NamedThing	atrial septal defect, sinus venosus type		DOVES_relaxed.owl
MONDO:0020437	biolink:NamedThing	atrial septal defect, ostium primum type	Atrioventricular septal defect with communication at the atrial level only.	DOVES_relaxed.owl
MONDO:0020439	biolink:NamedThing	patent foramen ovale	A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes.	DOVES_relaxed.owl
MONDO:0006851	biolink:NamedThing	meconium aspiration syndrome	A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date.	DOVES_relaxed.owl
MONDO:0024262	biolink:NamedThing	massive neonatal aspiration syndrome		DOVES_relaxed.owl
MONDO:0006865	biolink:NamedThing	necrotizing ulcerative gingivitis	A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins.	DOVES_relaxed.owl
MONDO:0020782	biolink:NamedThing	chronic gingivitis	Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth.	DOVES_relaxed.owl
MONDO:0006866	biolink:NamedThing	neonatal myasthenia gravis	A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)	DOVES_relaxed.owl
MONDO:0008036	biolink:NamedThing	myasthenia, limb-girdle, autoimmune		DOVES_relaxed.owl
MONDO:0011768	biolink:NamedThing	myasthenia gravis with thymus hyperplasia		DOVES_relaxed.owl
MONDO:0018324	biolink:NamedThing	adult-onset myasthenia gravis	Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.	DOVES_relaxed.owl
MONDO:0018325	biolink:NamedThing	juvenile myasthenia gravis	Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.	DOVES_relaxed.owl
MONDO:0018326	biolink:NamedThing	transient neonatal myasthenia gravis	Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.	DOVES_relaxed.owl
MONDO:0015589	biolink:NamedThing	paraneoplastic limbic encephalitis	A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia.	DOVES_relaxed.owl
MONDO:0016174	biolink:NamedThing	paraneoplastic sensory ganglionopathy		DOVES_relaxed.owl
MONDO:0018556	biolink:NamedThing	Lambert-Eaton myasthenic syndrome	Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).	DOVES_relaxed.owl
MONDO:0017212	biolink:NamedThing	paraneoplastic uveitis		DOVES_relaxed.owl
MONDO:0006889	biolink:NamedThing	paraphimosis	A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene.	DOVES_relaxed.owl
MONDO:0040998	biolink:NamedThing	Pasteurella multocida infectious disease		DOVES_relaxed.owl
MONDO:0006908	biolink:NamedThing	pituitary apoplexy	A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction.	DOVES_relaxed.owl
MONDO:0019832	biolink:NamedThing	acquired pituitary hormone deficiency	An instance of hypopituitarism that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0016042	biolink:NamedThing	late-onset isolated ACTH deficiency	Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.	DOVES_relaxed.owl
MONDO:0019845	biolink:NamedThing	iatrogenic or traumatic pituitary deficiency		DOVES_relaxed.owl
MONDO:0006935	biolink:NamedThing	pulmonary subvalvular stenosis	The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies.	DOVES_relaxed.owl
MONDO:0043099	biolink:NamedThing	Hordnes Engebretsen Knudtson syndrome		DOVES_relaxed.owl
MONDO:0006946	biolink:NamedThing	renal osteodystrophy	Abnormalities of bone mineral metabolism associated with chronic kidney disease.	DOVES_relaxed.owl
MONDO:0017323	biolink:NamedThing	hypocalcemic rickets	Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR).	DOVES_relaxed.owl
MONDO:0024299	biolink:NamedThing	vitamin D-dependent rickets		DOVES_relaxed.owl
MONDO:0006953	biolink:NamedThing	Rh isoimmunization	The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia.	DOVES_relaxed.owl
MONDO:0006957	biolink:NamedThing	root caries	Dental caries involving the tooth root, cementum, or cervical area of the tooth.	DOVES_relaxed.owl
MONDO:0010837	biolink:NamedThing	primary hyperparathyroidism	Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones.	DOVES_relaxed.owl
MONDO:0021132	biolink:NamedThing	tertiary hyperparathyroidism	An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism.	DOVES_relaxed.owl
MONDO:0017735	biolink:NamedThing	congenital aortic valve stenosis		DOVES_relaxed.owl
MONDO:0009144	biolink:NamedThing	Ebstein anomaly	Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.	DOVES_relaxed.owl
MONDO:0019811	biolink:NamedThing	tricuspid valve agenesis		DOVES_relaxed.owl
MONDO:0019813	biolink:NamedThing	congenital tricuspid stenosis		DOVES_relaxed.owl
MONDO:0019814	biolink:NamedThing	straddling or overriding tricuspid valve	Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.	DOVES_relaxed.owl
MONDO:0019815	biolink:NamedThing	accessory tricuspid valve tissue	Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.	DOVES_relaxed.owl
MONDO:0019816	biolink:NamedThing	anomaly of the tricuspid subvalvular apparatus		DOVES_relaxed.owl
MONDO:0007007	biolink:NamedThing	Ureaplasma urethritis	Infections with bacteria of the genus ureaplasma.	DOVES_relaxed.owl
MONDO:0007012	biolink:NamedThing	variant Creutzfeldt-Jakob disease	A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy.	DOVES_relaxed.owl
MONDO:0020246	biolink:NamedThing	inherited vitreoretinopathy		DOVES_relaxed.owl
MONDO:0034954	biolink:NamedThing	syndromic vitreoretinopathy		DOVES_relaxed.owl
MONDO:0100484	biolink:NamedThing	TSPAN12-related vitreoretinopathy	A vitreoretinopathy caused by variants in the TSPAN12 gene.	DOVES_relaxed.owl
MONDO:0007022	biolink:NamedThing	xanthogranulomatous pyelonephritis	Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli.	DOVES_relaxed.owl
MONDO:0007024	biolink:NamedThing	Yersinia pseudotuberculosis infectious disease	Infections with bacteria of the species yersinia pseudotuberculosis.	DOVES_relaxed.owl
MONDO:0042370	biolink:NamedThing	Yersinia enterocolitica infectious disease		DOVES_relaxed.owl
MONDO:0013209	biolink:NamedThing	non-alcoholic fatty liver disease	A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.	DOVES_relaxed.owl
MONDO:0021105	biolink:NamedThing	NAFLD1		DOVES_relaxed.owl
MONDO:0021005	biolink:NamedThing	faciodigitogenital syndrome	A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome.	DOVES_relaxed.owl
MONDO:0010589	biolink:NamedThing	Aarskog-Scott syndrome, X-linked	Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.	DOVES_relaxed.owl
MONDO:0007032	biolink:NamedThing	prune belly syndrome	Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.	DOVES_relaxed.owl
MONDO:0008301	biolink:NamedThing	Guttmacher syndrome	Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.	DOVES_relaxed.owl
MONDO:0008636	biolink:NamedThing	double uterus-hemivagina-renal agenesis syndrome	Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.	DOVES_relaxed.owl
MONDO:0009774	biolink:NamedThing	cloacal exstrophy	A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.	DOVES_relaxed.owl
MONDO:0010748	biolink:NamedThing	torticollis-keloids-cryptorchidism-renal dysplasia syndrome	Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.	DOVES_relaxed.owl
MONDO:0016639	biolink:NamedThing	lower limb deficiency-hypospadias syndrome	Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.	DOVES_relaxed.owl
MONDO:0016658	biolink:NamedThing	8p23.1 microdeletion syndrome	8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.	DOVES_relaxed.owl
MONDO:0016827	biolink:NamedThing	myopathy-growth delay-intellectual disability-hypospadias syndrome		DOVES_relaxed.owl
MONDO:0017857	biolink:NamedThing	spina bifida-hypospadias syndrome	Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.	DOVES_relaxed.owl
MONDO:0018639	biolink:NamedThing	caudal regression-sirenomelia spectrum	Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.	DOVES_relaxed.owl
MONDO:0015195	biolink:NamedThing	atresia of urethra	Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.	DOVES_relaxed.owl
MONDO:0019640	biolink:NamedThing	posterior urethral valve	Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO) and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.	DOVES_relaxed.owl
MONDO:0007134	biolink:NamedThing	Cooks syndrome	Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.	DOVES_relaxed.owl
MONDO:0007214	biolink:NamedThing	brachydactyly-preaxial hallux varus syndrome	Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits.	DOVES_relaxed.owl
MONDO:0007615	biolink:NamedThing	laurin-Sandrow syndrome	Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.	DOVES_relaxed.owl
MONDO:0007696	biolink:NamedThing	Emery-Nelson syndrome		DOVES_relaxed.owl
MONDO:0008286	biolink:NamedThing	crossed polysyndactyly	Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994.	DOVES_relaxed.owl
MONDO:0008540	biolink:NamedThing	extensor tendons of finger anomalies		DOVES_relaxed.owl
MONDO:0008562	biolink:NamedThing	thumb deformity-alopecia-pigmentation anomaly syndrome	Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.	DOVES_relaxed.owl
MONDO:0008563	biolink:NamedThing	thumb stiffness-brachydactyly-intellectual disability syndrome	Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.	DOVES_relaxed.owl
MONDO:0008606	biolink:NamedThing	Say-field-Coldwell syndrome	Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.	DOVES_relaxed.owl
MONDO:0008607	biolink:NamedThing	triphalangeal thumbs-brachyectrodactyly syndrome	Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0008931	biolink:NamedThing	Cenani-Lenz syndactyly syndrome	Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.	DOVES_relaxed.owl
MONDO:0009321	biolink:NamedThing	hallux varus-preaxial polysyndactyly syndrome	Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.	DOVES_relaxed.owl
MONDO:0010087	biolink:NamedThing	Sugarman brachydactyly	Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.	DOVES_relaxed.owl
MONDO:0010538	biolink:NamedThing	Mononen-Karnes-Senac syndrome	Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.	DOVES_relaxed.owl
MONDO:0011621	biolink:NamedThing	acropectoral syndrome	Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36.	DOVES_relaxed.owl
MONDO:0012063	biolink:NamedThing	ulnar/fibula ray defect-brachydactyly syndrome	Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0013334	biolink:NamedThing	cocoon syndrome	Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.	DOVES_relaxed.owl
MONDO:0014069	biolink:NamedThing	syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome		DOVES_relaxed.owl
MONDO:0015225	biolink:NamedThing	arthrogryposis syndrome		DOVES_relaxed.owl
MONDO:0015227	biolink:NamedThing	non-syndromic limb malformation		DOVES_relaxed.owl
MONDO:0015272	biolink:NamedThing	camptodactyly-taurinuria syndrome	Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.	DOVES_relaxed.owl
MONDO:0015773	biolink:NamedThing	fibular dimelia-diplopodia syndrome	Fibular dimelia-diplopodia syndrome is a rare developmental anomaly.	DOVES_relaxed.owl
MONDO:0017454	biolink:NamedThing	triphalangeal thumb-polysyndactyly syndrome	Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.	DOVES_relaxed.owl
MONDO:0019685	biolink:NamedThing	FGFR3-related chondrodysplasia		DOVES_relaxed.owl
MONDO:0007039	biolink:NamedThing	neurofibromatosis type 2	A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.	DOVES_relaxed.owl
MONDO:0008081	biolink:NamedThing	neurofibromatosis, type IV, of Riccardi		DOVES_relaxed.owl
MONDO:0007040	biolink:NamedThing	Sakati-Nyhan syndrome	An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.	DOVES_relaxed.owl
MONDO:0008711	biolink:NamedThing	Goodman syndrome	Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.	DOVES_relaxed.owl
MONDO:0019012	biolink:NamedThing	Carpenter syndrome	An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.	DOVES_relaxed.owl
MONDO:0007044	biolink:NamedThing	acrodysostosis 1 with or without hormone resistance	An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.	DOVES_relaxed.owl
MONDO:0013822	biolink:NamedThing	acrodysostosis 2 with or without hormone resistance	Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.	DOVES_relaxed.owl
MONDO:0008715	biolink:NamedThing	acrofrontofacionasal dysostosis	A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.	DOVES_relaxed.owl
MONDO:0011359	biolink:NamedThing	acromelic frontonasal dysostosis	Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.	DOVES_relaxed.owl
MONDO:0014651	biolink:NamedThing	acrofacial dysostosis Cincinnati type	Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.	DOVES_relaxed.owl
MONDO:0021764	biolink:NamedThing	acrofacial dysostosis Preis type	Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder.	DOVES_relaxed.owl
MONDO:0007047	biolink:NamedThing	punctate palmoplantar keratoderma type III	Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later	DOVES_relaxed.owl
MONDO:0017676	biolink:NamedThing	marginal papular palmoplantar keratoderma		DOVES_relaxed.owl
MONDO:0017677	biolink:NamedThing	focal acral hyperkeratosis		DOVES_relaxed.owl
MONDO:0036918	biolink:NamedThing	punctate acrokeratoderma freckle-like pigmentation		DOVES_relaxed.owl
MONDO:0007271	biolink:NamedThing	familial cutaneous collagenoma	Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.	DOVES_relaxed.owl
MONDO:0007529	biolink:NamedThing	elastosis perforans serpiginosa		DOVES_relaxed.owl
MONDO:0009000	biolink:NamedThing	familial reactive perforating collagenosis	Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.	DOVES_relaxed.owl
MONDO:0012570	biolink:NamedThing	body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.	DOVES_relaxed.owl
MONDO:0016175	biolink:NamedThing	cutis laxa	Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.	DOVES_relaxed.owl
MONDO:0016434	biolink:NamedThing	acquired dermis elastic tissue disorder	An instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0016445	biolink:NamedThing	familial anetoderma	Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.	DOVES_relaxed.owl
MONDO:0007051	biolink:NamedThing	acromegaloid facial appearance syndrome	Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.	DOVES_relaxed.owl
MONDO:0015160	biolink:NamedThing	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0007301	biolink:NamedThing	cerebrocostomandibular syndrome	Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.	DOVES_relaxed.owl
MONDO:0007804	biolink:NamedThing	Pallister-Hall syndrome	Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.	DOVES_relaxed.owl
MONDO:0007993	biolink:NamedThing	microgastria-limb reduction defect syndrome	This syndrome is characterised by the association of microgastria with a limb reduction defect.	DOVES_relaxed.owl
MONDO:0008411	biolink:NamedThing	ulnar-mammary syndrome	Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.	DOVES_relaxed.owl
MONDO:0008499	biolink:NamedThing	short stature-wormian bones-dextrocardia syndrome	Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia.	DOVES_relaxed.owl
MONDO:0008799	biolink:NamedThing	anophthalmia/microphthalmia-esophageal atresia syndrome	Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.	DOVES_relaxed.owl
MONDO:0008803	biolink:NamedThing	Antley-Bixler syndrome	Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.	DOVES_relaxed.owl
MONDO:0008896	biolink:NamedThing	campomelia, Cumming type	Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.	DOVES_relaxed.owl
MONDO:0009425	biolink:NamedThing	hypomandibular faciocranial dysostosis	Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.	DOVES_relaxed.owl
MONDO:0009473	biolink:NamedThing	isotretinoin-like syndrome	Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.	DOVES_relaxed.owl
MONDO:0009525	biolink:NamedThing	split hand-foot malformation 3	The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.	DOVES_relaxed.owl
MONDO:0009560	biolink:NamedThing	oculotrichoanal syndrome		DOVES_relaxed.owl
MONDO:0009569	biolink:NamedThing	Hennekam-Beemer syndrome	Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive.	DOVES_relaxed.owl
MONDO:0009582	biolink:NamedThing	Mietens syndrome	Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.	DOVES_relaxed.owl
MONDO:0010972	biolink:NamedThing	hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome	This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.	DOVES_relaxed.owl
MONDO:0011134	biolink:NamedThing	Curry-Jones syndrome	Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.	DOVES_relaxed.owl
MONDO:0012209	biolink:NamedThing	branchiogenic deafness syndrome	Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.	DOVES_relaxed.owl
MONDO:0013226	biolink:NamedThing	combined immunodeficiency with faciooculoskeletal anomalies	Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).	DOVES_relaxed.owl
MONDO:0013396	biolink:NamedThing	chromosome 1p32-p31 deletion syndrome	1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.	DOVES_relaxed.owl
MONDO:0014044	biolink:NamedThing	dysmorphism-conductive hearing loss-heart defect syndrome	A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears.	DOVES_relaxed.owl
MONDO:0015206	biolink:NamedThing	short stature-heart defect-craniofacial anomalies syndrome		DOVES_relaxed.owl
MONDO:0015235	biolink:NamedThing	arachnodactyly-intellectual disability-dysmorphism syndrome	Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients.	DOVES_relaxed.owl
MONDO:0016515	biolink:NamedThing	Kallmann syndrome-heart disease syndrome	Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.	DOVES_relaxed.owl
MONDO:0017193	biolink:NamedThing	symptomatic form of Coffin-Lowry syndrome in female carriers		DOVES_relaxed.owl
MONDO:0017770	biolink:NamedThing	Robinow-like syndrome	Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait.	DOVES_relaxed.owl
MONDO:0044717	biolink:NamedThing	4q25 proximal deletion syndrome		DOVES_relaxed.owl
MONDO:0800042	biolink:NamedThing	restrictive dermopathy 1	A a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.	DOVES_relaxed.owl
MONDO:0007052	biolink:NamedThing	growth hormone secreting pituitary adenoma 1		DOVES_relaxed.owl
MONDO:0010492	biolink:NamedThing	pituitary adenoma, growth hormone-secreting, 2	Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene.	DOVES_relaxed.owl
MONDO:0054601	biolink:NamedThing	pituitary adenoma 5, multiple types		DOVES_relaxed.owl
MONDO:0054665	biolink:NamedThing	pituitary adenoma 3, multiple types		DOVES_relaxed.owl
MONDO:0007053	biolink:NamedThing	restless legs syndrome, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0012135	biolink:NamedThing	restless legs syndrome, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0012492	biolink:NamedThing	restless legs syndrome, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0012493	biolink:NamedThing	restless legs syndrome, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0012636	biolink:NamedThing	restless legs syndrome, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0012641	biolink:NamedThing	restless legs syndrome, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0013022	biolink:NamedThing	restless legs syndrome, susceptibility to, 7		DOVES_relaxed.owl
MONDO:0014079	biolink:NamedThing	restless legs syndrome, susceptibility to, 8		DOVES_relaxed.owl
MONDO:0007056	biolink:NamedThing	acroosteolysis	A condition that is characterized by degeneration of the distal phalanges.	DOVES_relaxed.owl
MONDO:0019707	biolink:NamedThing	primary osteolysis		DOVES_relaxed.owl
MONDO:0008152	biolink:NamedThing	multicentric carpo-tarsal osteolysis with or without nephropathy	Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.	DOVES_relaxed.owl
MONDO:0008175	biolink:NamedThing	pacman dysplasia	Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.	DOVES_relaxed.owl
MONDO:0008275	biolink:NamedThing	familial expansile osteolysis		DOVES_relaxed.owl
MONDO:0009229	biolink:NamedThing	hyaline fibromatosis syndrome		DOVES_relaxed.owl
MONDO:0009810	biolink:NamedThing	autosomal recessive distal osteolysis syndrome	Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.	DOVES_relaxed.owl
MONDO:0011183	biolink:NamedThing	Paget disease of bone 2, early-onset		DOVES_relaxed.owl
MONDO:0012330	biolink:NamedThing	talo-patello-scaphoid osteolysis	Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.	DOVES_relaxed.owl
MONDO:0018128	biolink:NamedThing	phalangeal microgeodic syndrome	Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.	DOVES_relaxed.owl
MONDO:0018298	biolink:NamedThing	multicentric osteolysis-nodulosis-arthropathy spectrum	A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.	DOVES_relaxed.owl
MONDO:0007058	biolink:NamedThing	acropectorovertebral dysplasia	Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).	DOVES_relaxed.owl
MONDO:0015929	biolink:NamedThing	thoracic malformation		DOVES_relaxed.owl
MONDO:0007388	biolink:NamedThing	congenitally short costocoracoid ligament	Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour.	DOVES_relaxed.owl
MONDO:0008482	biolink:NamedThing	Sprengel deformity		DOVES_relaxed.owl
MONDO:0008551	biolink:NamedThing	thoracolaryngopelvic dysplasia	A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.	DOVES_relaxed.owl
MONDO:0009794	biolink:NamedThing	orofaciodigital syndrome IV	Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.	DOVES_relaxed.owl
MONDO:0010115	biolink:NamedThing	thoracic dysplasia-hydrocephalus syndrome		DOVES_relaxed.owl
MONDO:0010116	biolink:NamedThing	thoracomelic dysplasia		DOVES_relaxed.owl
MONDO:0014870	biolink:NamedThing	NEK9-related lethal skeletal dysplasia	NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.	DOVES_relaxed.owl
MONDO:0016066	biolink:NamedThing	sternal cleft	Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.	DOVES_relaxed.owl
MONDO:0019131	biolink:NamedThing	ossification anomalies-psychomotor developmental delay syndrome	Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification.	DOVES_relaxed.owl
MONDO:0008269	biolink:NamedThing	polydactyly of a biphalangeal thumb	Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.	DOVES_relaxed.owl
MONDO:0008271	biolink:NamedThing	polydactyly of an index finger	Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962.	DOVES_relaxed.owl
MONDO:0008513	biolink:NamedThing	synpolydactyly type 1	Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene.	DOVES_relaxed.owl
MONDO:0009571	biolink:NamedThing	Meckel syndrome, type 1	Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.	DOVES_relaxed.owl
MONDO:0011296	biolink:NamedThing	Meckel syndrome, type 2	Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene.	DOVES_relaxed.owl
MONDO:0011821	biolink:NamedThing	Meckel syndrome, type 3	Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene.	DOVES_relaxed.owl
MONDO:0011984	biolink:NamedThing	synpolydactyly type 2	Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene.	DOVES_relaxed.owl
MONDO:0012626	biolink:NamedThing	Meckel syndrome, type 4	Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene.	DOVES_relaxed.owl
MONDO:0012695	biolink:NamedThing	Meckel syndrome, type 5	Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.	DOVES_relaxed.owl
MONDO:0012848	biolink:NamedThing	Meckel syndrome, type 6	Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene.	DOVES_relaxed.owl
MONDO:0054581	biolink:NamedThing	Townes-Brocks syndrome 1		DOVES_relaxed.owl
MONDO:0800291	biolink:NamedThing	crossed polydactyly, type I		DOVES_relaxed.owl
MONDO:0007060	biolink:NamedThing	spermatogenic failure 6	Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene.	DOVES_relaxed.owl
MONDO:0007161	biolink:NamedThing	spermatogenic failure 2		DOVES_relaxed.owl
MONDO:0009461	biolink:NamedThing	spermatogenic failure 5	Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).	DOVES_relaxed.owl
MONDO:0009776	biolink:NamedThing	spermatogenic failure 1		DOVES_relaxed.owl
MONDO:0010052	biolink:NamedThing	spermatogenic failure 4	Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene.	DOVES_relaxed.owl
MONDO:0010595	biolink:NamedThing	Sertoli cell-only syndrome	Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children.	DOVES_relaxed.owl
MONDO:0010647	biolink:NamedThing	spermatogenic failure, X-linked, 2	Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene.	DOVES_relaxed.owl
MONDO:0010767	biolink:NamedThing	spermatogenic failure, Y-linked, 2		DOVES_relaxed.owl
MONDO:0011720	biolink:NamedThing	spermatogenic failure 3	Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene.	DOVES_relaxed.owl
MONDO:0013070	biolink:NamedThing	spermatogenic failure 7		DOVES_relaxed.owl
MONDO:0013504	biolink:NamedThing	spermatogenic failure 8	Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene.	DOVES_relaxed.owl
MONDO:0013505	biolink:NamedThing	spermatogenic failure 9	Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene.	DOVES_relaxed.owl
MONDO:0013901	biolink:NamedThing	spermatogenic failure 10	Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene.	DOVES_relaxed.owl
MONDO:0014037	biolink:NamedThing	spermatogenic failure 11	Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.	DOVES_relaxed.owl
MONDO:0014172	biolink:NamedThing	spermatogenic failure 12	Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.	DOVES_relaxed.owl
MONDO:0014365	biolink:NamedThing	spermatogenic failure 13	Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene.	DOVES_relaxed.owl
MONDO:0014366	biolink:NamedThing	spermatogenic failure 14	Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene.	DOVES_relaxed.owl
MONDO:0014847	biolink:NamedThing	spermatogenic failure 15	Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.	DOVES_relaxed.owl
MONDO:0014961	biolink:NamedThing	spermatogenic failure 16	Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene.	DOVES_relaxed.owl
MONDO:0014970	biolink:NamedThing	spermatogenic failure 17	Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene.	DOVES_relaxed.owl
MONDO:0020851	biolink:NamedThing	spermatogenic failure 30		DOVES_relaxed.owl
MONDO:0020852	biolink:NamedThing	spermatogenic failure 31		DOVES_relaxed.owl
MONDO:0020855	biolink:NamedThing	spermatogenic failure 32		DOVES_relaxed.owl
MONDO:0023664	biolink:NamedThing	spermatogenic failure 54		DOVES_relaxed.owl
MONDO:0024773	biolink:NamedThing	spermatogenic failure, X-linked, 4		DOVES_relaxed.owl
MONDO:0025354	biolink:NamedThing	spermatogenic failure, X-linked, 3		DOVES_relaxed.owl
MONDO:0029147	biolink:NamedThing	spermatogenic failure 33		DOVES_relaxed.owl
MONDO:0029148	biolink:NamedThing	spermatogenic failure 34		DOVES_relaxed.owl
MONDO:0030307	biolink:NamedThing	spermatogenic failure 55		DOVES_relaxed.owl
MONDO:0030430	biolink:NamedThing	spermatogenic failure 56		DOVES_relaxed.owl
MONDO:0030439	biolink:NamedThing	spermatogenic failure 57		DOVES_relaxed.owl
MONDO:0030463	biolink:NamedThing	spermatogenic failure 58		DOVES_relaxed.owl
MONDO:0030492	biolink:NamedThing	spermatogenic failure 59		DOVES_relaxed.owl
MONDO:0030493	biolink:NamedThing	spermatogenic failure 60		DOVES_relaxed.owl
MONDO:0030507	biolink:NamedThing	spermatogenic failure 61		DOVES_relaxed.owl
MONDO:0030508	biolink:NamedThing	spermatogenic failure 62		DOVES_relaxed.owl
MONDO:0030515	biolink:NamedThing	spermatogenic failure 63		DOVES_relaxed.owl
MONDO:0030522	biolink:NamedThing	spermatogenic failure 64		DOVES_relaxed.owl
MONDO:0030531	biolink:NamedThing	spermatogenic failure 65		DOVES_relaxed.owl
MONDO:0030716	biolink:NamedThing	spermatogenic failure 66		DOVES_relaxed.owl
MONDO:0030718	biolink:NamedThing	spermatogenic failure 67		DOVES_relaxed.owl
MONDO:0030721	biolink:NamedThing	spermatogenic failure 68		DOVES_relaxed.owl
MONDO:0030732	biolink:NamedThing	spermatogenic failure 69		DOVES_relaxed.owl
MONDO:0030733	biolink:NamedThing	spermatogenic failure 70		DOVES_relaxed.owl
MONDO:0030787	biolink:NamedThing	spermatogenic failure 71		DOVES_relaxed.owl
MONDO:0030809	biolink:NamedThing	spermatogenic failure 72		DOVES_relaxed.owl
MONDO:0030818	biolink:NamedThing	spermatogenic failure 73		DOVES_relaxed.owl
MONDO:0030844	biolink:NamedThing	spermatogenic failure 47		DOVES_relaxed.owl
MONDO:0030846	biolink:NamedThing	spermatogenic failure 48		DOVES_relaxed.owl
MONDO:0030868	biolink:NamedThing	spermatogenic failure 49		DOVES_relaxed.owl
MONDO:0030869	biolink:NamedThing	spermatogenic failures 50		DOVES_relaxed.owl
MONDO:0030926	biolink:NamedThing	spermatogenic failure 51		DOVES_relaxed.owl
MONDO:0030938	biolink:NamedThing	spermatogenic failure 52		DOVES_relaxed.owl
MONDO:0030972	biolink:NamedThing	spermatogenic failure 74		DOVES_relaxed.owl
MONDO:0030984	biolink:NamedThing	spermatogenic failure 75		DOVES_relaxed.owl
MONDO:0030989	biolink:NamedThing	spermatogenic failure 53		DOVES_relaxed.owl
MONDO:0031077	biolink:NamedThing	spermatogenic failure 76		DOVES_relaxed.owl
MONDO:0031083	biolink:NamedThing	spermatogenic failure 77		DOVES_relaxed.owl
MONDO:0032686	biolink:NamedThing	spermatogenic failure 35		DOVES_relaxed.owl
MONDO:0032739	biolink:NamedThing	spermatogenic failure 36		DOVES_relaxed.owl
MONDO:0032744	biolink:NamedThing	spermatogenic failure 37		DOVES_relaxed.owl
MONDO:0032748	biolink:NamedThing	spermatogenic failure 38		DOVES_relaxed.owl
MONDO:0032845	biolink:NamedThing	spermatogenic failure 39		DOVES_relaxed.owl
MONDO:0032859	biolink:NamedThing	spermatogenic failure 40		DOVES_relaxed.owl
MONDO:0032863	biolink:NamedThing	spermatogenic failure 41		DOVES_relaxed.owl
MONDO:0032896	biolink:NamedThing	spermatogenic failure 42		DOVES_relaxed.owl
MONDO:0032898	biolink:NamedThing	spermatogenic failure 43		DOVES_relaxed.owl
MONDO:0033622	biolink:NamedThing	spermatogenic failure 44		DOVES_relaxed.owl
MONDO:0033671	biolink:NamedThing	spermatogenic failure 45		DOVES_relaxed.owl
MONDO:0033673	biolink:NamedThing	spermatogenic failure 46		DOVES_relaxed.owl
MONDO:0054615	biolink:NamedThing	spermatogenic failure 18		DOVES_relaxed.owl
MONDO:0054723	biolink:NamedThing	spermatogenic failure 19		DOVES_relaxed.owl
MONDO:0054724	biolink:NamedThing	spermatogenic failure 20		DOVES_relaxed.owl
MONDO:0054725	biolink:NamedThing	spermatogenic failure 21		DOVES_relaxed.owl
MONDO:0054726	biolink:NamedThing	spermatogenic failure 22		DOVES_relaxed.owl
MONDO:0054727	biolink:NamedThing	spermatogenic failure 23		DOVES_relaxed.owl
MONDO:0054728	biolink:NamedThing	spermatogenic failure 24		DOVES_relaxed.owl
MONDO:0054729	biolink:NamedThing	spermatogenic failure 25		DOVES_relaxed.owl
MONDO:0054730	biolink:NamedThing	spermatogenic failure 26		DOVES_relaxed.owl
MONDO:0054731	biolink:NamedThing	spermatogenic failure 27		DOVES_relaxed.owl
MONDO:0054732	biolink:NamedThing	spermatogenic failure 28		DOVES_relaxed.owl
MONDO:0054733	biolink:NamedThing	spermatogenic failure 29		DOVES_relaxed.owl
MONDO:0015746	biolink:NamedThing	male infertility due to globozoospermia	Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent.	DOVES_relaxed.owl
MONDO:0007062	biolink:NamedThing	congenital absence/hypoplasia of fingers excluding thumb, unilateral	Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia).	DOVES_relaxed.owl
MONDO:0017448	biolink:NamedThing	congenital absence/hypoplasia of fingers excluding thumb		DOVES_relaxed.owl
MONDO:0017508	biolink:NamedThing	congenital absence/hypoplasia of fingers excluding thumb, bilateral		DOVES_relaxed.owl
MONDO:0007064	biolink:NamedThing	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.	DOVES_relaxed.owl
MONDO:0008704	biolink:NamedThing	short-limb skeletal dysplasia with severe combined immunodeficiency	Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.	DOVES_relaxed.owl
MONDO:0009973	biolink:NamedThing	reticular dysgenesis	Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.	DOVES_relaxed.owl
MONDO:0011086	biolink:NamedThing	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.	DOVES_relaxed.owl
MONDO:0011338	biolink:NamedThing	Omenn syndrome	An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).	DOVES_relaxed.owl
MONDO:0011988	biolink:NamedThing	neutrophil immunodeficiency syndrome	A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.	DOVES_relaxed.owl
MONDO:0012359	biolink:NamedThing	combined immunodeficiency due to partial RAG1 deficiency	A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.	DOVES_relaxed.owl
MONDO:0012650	biolink:NamedThing	Cernunnos-XLF deficiency	Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.	DOVES_relaxed.owl
MONDO:0014334	biolink:NamedThing	severe combined immunodeficiency due to LCK deficiency		DOVES_relaxed.owl
MONDO:0014423	biolink:NamedThing	severe combined immunodeficiency due to DNA-PKcs deficiency	Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.	DOVES_relaxed.owl
MONDO:0033554	biolink:NamedThing	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia		DOVES_relaxed.owl
MONDO:0033555	biolink:NamedThing	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia		DOVES_relaxed.owl
MONDO:0019236	biolink:NamedThing	inborn disorder of purine metabolism	An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.	DOVES_relaxed.owl
MONDO:0008073	biolink:NamedThing	familial juvenile hyperuricemic nephropathy type 1	A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.	DOVES_relaxed.owl
MONDO:0009636	biolink:NamedThing	mitochondrial DNA depletion syndrome 3	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene.	DOVES_relaxed.owl
MONDO:0010699	biolink:NamedThing	Charcot-Marie-Tooth disease X-linked recessive 5	X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.	DOVES_relaxed.owl
MONDO:0013171	biolink:NamedThing	purine nucleoside phosphorylase deficiency	Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.	DOVES_relaxed.owl
MONDO:0008855	biolink:NamedThing	MHC class II deficiency	Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.	DOVES_relaxed.owl
MONDO:0010315	biolink:NamedThing	T-B+ severe combined immunodeficiency due to gamma chain deficiency	Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.	DOVES_relaxed.owl
MONDO:0010938	biolink:NamedThing	T-B+ severe combined immunodeficiency due to JAK3 deficiency	Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.	DOVES_relaxed.owl
MONDO:0012163	biolink:NamedThing	immunodeficiency 104	A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.	DOVES_relaxed.owl
MONDO:0014278	biolink:NamedThing	immunodeficiency 18	Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.	DOVES_relaxed.owl
MONDO:0014280	biolink:NamedThing	immunodeficiency 19	Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene.	DOVES_relaxed.owl
MONDO:0014981	biolink:NamedThing	immunodeficiency 49	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.	DOVES_relaxed.owl
MONDO:0800104	biolink:NamedThing	immunodeficiency 105	Any immunodeficiency disease which the cause of the disease is a mutation in the PTPRC gene.	DOVES_relaxed.owl
MONDO:0007067	biolink:NamedThing	pyruvate kinase hyperactivity	Autosomal dominant phenotype characterized by increase of red blood cell ATP.	DOVES_relaxed.owl
MONDO:0007071	biolink:NamedThing	adrenocortical hypofunction, chronic primary congenital		DOVES_relaxed.owl
MONDO:0015129	biolink:NamedThing	chronic primary adrenal insufficiency	A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.	DOVES_relaxed.owl
MONDO:0008731	biolink:NamedThing	familial adrenal hypoplasia with absent pituitary luteinizing hormone		DOVES_relaxed.owl
MONDO:0015130	biolink:NamedThing	acquired chronic primary adrenal insufficiency	An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0017337	biolink:NamedThing	inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.	DOVES_relaxed.owl
MONDO:0100480	biolink:NamedThing	autoimmune primary adrenal insufficiency	Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands.	DOVES_relaxed.owl
MONDO:0020197	biolink:NamedThing	EEC syndrome and related syndrome		DOVES_relaxed.owl
MONDO:0015399	biolink:NamedThing	glossopalatine ankylosis	Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.	DOVES_relaxed.owl
MONDO:0007342	biolink:NamedThing	clubfoot	The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.	DOVES_relaxed.owl
MONDO:0007387	biolink:NamedThing	Cornelia de Lange syndrome 1	Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.	DOVES_relaxed.owl
MONDO:0008217	biolink:NamedThing	pelvis-shoulder dysplasia	Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.	DOVES_relaxed.owl
MONDO:0008572	biolink:NamedThing	tibia, hypoplasia or aplasia of, with polydactyly	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.	DOVES_relaxed.owl
MONDO:0009215	biolink:NamedThing	Fanconi anemia complementation group A	Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.	DOVES_relaxed.owl
MONDO:0009221	biolink:NamedThing	femur-fibula-ulna complex	Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.	DOVES_relaxed.owl
MONDO:0009222	biolink:NamedThing	Gollop-Wolfgang complex	Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur.	DOVES_relaxed.owl
MONDO:0009526	biolink:NamedThing	fibular aplasia, tibial campomelia, and oligosyndactyly syndrome		DOVES_relaxed.owl
MONDO:0009845	biolink:NamedThing	pelviscapular dysplasia	Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0010164	biolink:NamedThing	phocomelia, Schinzel type	Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.	DOVES_relaxed.owl
MONDO:0010370	biolink:NamedThing	Cornelia de Lange syndrome 2	An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.	DOVES_relaxed.owl
MONDO:0010471	biolink:NamedThing	Cornelia de Lange syndrome 5		DOVES_relaxed.owl
MONDO:0012555	biolink:NamedThing	Cornelia de Lange syndrome 3	Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene.	DOVES_relaxed.owl
MONDO:0012944	biolink:NamedThing	chromosome 17P13.3, telomeric, duplication syndrome		DOVES_relaxed.owl
MONDO:0013635	biolink:NamedThing	Adams-Oliver syndrome 2	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene.	DOVES_relaxed.owl
MONDO:0013864	biolink:NamedThing	Cornelia de Lange syndrome 4	Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene.	DOVES_relaxed.owl
MONDO:0013895	biolink:NamedThing	Adams-Oliver syndrome 3	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene.	DOVES_relaxed.owl
MONDO:0014124	biolink:NamedThing	Adams-Oliver syndrome 4	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene.	DOVES_relaxed.owl
MONDO:0014459	biolink:NamedThing	Adams-Oliver syndrome 5	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene.	DOVES_relaxed.owl
MONDO:0014703	biolink:NamedThing	Adams-Oliver syndrome 6	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene.	DOVES_relaxed.owl
MONDO:0016032	biolink:NamedThing	femoral agenesis/hypoplasia	Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.	DOVES_relaxed.owl
MONDO:0016240	biolink:NamedThing	hemimelia	Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.	DOVES_relaxed.owl
MONDO:0017419	biolink:NamedThing	non-syndromic amelia	A congenital malformation characterized by the complete absence of all limbs.	DOVES_relaxed.owl
MONDO:0017420	biolink:NamedThing	intercalary limb defects		DOVES_relaxed.owl
MONDO:0017421	biolink:NamedThing	non-syndromic terminal limb defects		DOVES_relaxed.owl
MONDO:0017440	biolink:NamedThing	humeral agenesis/hypoplasia	Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.	DOVES_relaxed.owl
MONDO:0024506	biolink:NamedThing	Adams-Oliver syndrome 1	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.	DOVES_relaxed.owl
MONDO:0060732	biolink:NamedThing	tetraamelia syndrome 2		DOVES_relaxed.owl
MONDO:0060764	biolink:NamedThing	tetraamelia syndrome 1		DOVES_relaxed.owl
MONDO:0007075	biolink:NamedThing	alacrima, congenital, autosomal dominant		DOVES_relaxed.owl
MONDO:0019627	biolink:NamedThing	isolated congenital alacrima	Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.	DOVES_relaxed.owl
MONDO:0011105	biolink:NamedThing	alacrima, congenital, autosomal recessive		DOVES_relaxed.owl
MONDO:0008245	biolink:NamedThing	piebald trait-neurologic defects syndrome	Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.	DOVES_relaxed.owl
MONDO:0011133	biolink:NamedThing	deaf blind hypopigmentation syndrome, Yemenite type	Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.	DOVES_relaxed.owl
MONDO:0035124	biolink:NamedThing	linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies		DOVES_relaxed.owl
MONDO:0008008	biolink:NamedThing	MOMO syndrome	MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.	DOVES_relaxed.owl
MONDO:0013267	biolink:NamedThing	distal 16p11.2 microdeletion syndrome	Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.	DOVES_relaxed.owl
MONDO:0014541	biolink:NamedThing	motor developmental delay due to 14q32.2 paternally expressed gene defect	A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father.	DOVES_relaxed.owl
MONDO:0015007	biolink:NamedThing	spastic paraplegia, intellectual disability, nystagmus, and obesity;		DOVES_relaxed.owl
MONDO:0016346	biolink:NamedThing	hydrocephalus-obesity-hypogonadism syndrome	This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.	DOVES_relaxed.owl
MONDO:0017408	biolink:NamedThing	rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome	A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin.	DOVES_relaxed.owl
MONDO:0018067	biolink:NamedThing	triploidy	Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0018123	biolink:NamedThing	intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.	DOVES_relaxed.owl
MONDO:0008749	biolink:NamedThing	pseudohypoparathyroidism type 2	Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.	DOVES_relaxed.owl
MONDO:0011301	biolink:NamedThing	pseudohypoparathyroidism type 1B	Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.	DOVES_relaxed.owl
MONDO:0800094	biolink:NamedThing	dysostosis with brachydactyly with extraskeletal manifestations		DOVES_relaxed.owl
MONDO:0008115	biolink:NamedThing	Feingold syndrome type 1	Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.	DOVES_relaxed.owl
MONDO:0008393	biolink:NamedThing	Rubinstein-Taybi syndrome due to CREBBP mutations	Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.	DOVES_relaxed.owl
MONDO:0009398	biolink:NamedThing	hyperphosphatasia with intellectual disability syndrome 1	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene.	DOVES_relaxed.owl
MONDO:0013364	biolink:NamedThing	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.	DOVES_relaxed.owl
MONDO:0014838	biolink:NamedThing	Coffin-Siris syndrome 5	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.	DOVES_relaxed.owl
MONDO:0013359	biolink:NamedThing	familial hyperaldosteronism type III	Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.	DOVES_relaxed.owl
MONDO:0014200	biolink:NamedThing	aldosterone-producing adenoma with seizures and neurological abnormalities		DOVES_relaxed.owl
MONDO:0014875	biolink:NamedThing	hyperaldosteronism, familial, type IV		DOVES_relaxed.owl
MONDO:0007084	biolink:NamedThing	familial focal alopecia		DOVES_relaxed.owl
MONDO:0007184	biolink:NamedThing	alopecia, androgenetic, 1		DOVES_relaxed.owl
MONDO:0008757	biolink:NamedThing	alopecia universalis congenita	The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.	DOVES_relaxed.owl
MONDO:0010229	biolink:NamedThing	alopecia, congenital	A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common.	DOVES_relaxed.owl
MONDO:0010410	biolink:NamedThing	alopecia, androgenetic, 2		DOVES_relaxed.owl
MONDO:0012551	biolink:NamedThing	alopecia areata 2		DOVES_relaxed.owl
MONDO:0012899	biolink:NamedThing	alopecia, androgenetic, 3		DOVES_relaxed.owl
MONDO:0007083	biolink:NamedThing	autosomal dominant palmoplantar keratoderma and congenital alopecia	Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.	DOVES_relaxed.owl
MONDO:0017666	biolink:NamedThing	diffuse palmoplantar keratoderma	Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality.	DOVES_relaxed.owl
MONDO:0007510	biolink:NamedThing	Clouston syndrome	Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.	DOVES_relaxed.owl
MONDO:0007852	biolink:NamedThing	palmoplantar keratoderma-deafness syndrome	Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.	DOVES_relaxed.owl
MONDO:0007853	biolink:NamedThing	palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome		DOVES_relaxed.owl
MONDO:0007857	biolink:NamedThing	keratosis palmaris et plantaris-clinodactyly syndrome	Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0007866	biolink:NamedThing	Bart-Pumphrey syndrome		DOVES_relaxed.owl
MONDO:0008416	biolink:NamedThing	palmoplantar keratoderma-sclerodactyly syndrome		DOVES_relaxed.owl
MONDO:0011883	biolink:NamedThing	Curly hair - acral keratoderma - caries syndrome	Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.	DOVES_relaxed.owl
MONDO:0014089	biolink:NamedThing	corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome		DOVES_relaxed.owl
MONDO:0017667	biolink:NamedThing	isolated diffuse palmoplantar keratoderma	A diffuse palmoplantar keratoderma that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0017670	biolink:NamedThing	autosomal dominant diffuse mutilating palmoplantar keratoderma		DOVES_relaxed.owl
MONDO:0019489	biolink:NamedThing	diffuse palmoplantar keratoderma - acrocyanosis syndrome	Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.	DOVES_relaxed.owl
MONDO:0100113	biolink:NamedThing	hearing loss with skin disease	Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes.	DOVES_relaxed.owl
MONDO:0007095	biolink:NamedThing	ameloonychohypohidrotic syndrome		DOVES_relaxed.owl
MONDO:0007131	biolink:NamedThing	anonychia with flexural pigmentation	Anonychia with flexural pigmentation is characterised by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0007207	biolink:NamedThing	Böök syndrome	Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.	DOVES_relaxed.owl
MONDO:0007383	biolink:NamedThing	Stern-Lubinsky-Durrie syndrome	Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.	DOVES_relaxed.owl
MONDO:0007449	biolink:NamedThing	dermo-odonto dysplasia	Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely.	DOVES_relaxed.owl
MONDO:0007511	biolink:NamedThing	ectodermal dysplasia, trichoodontoonychial type	Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.	DOVES_relaxed.owl
MONDO:0008582	biolink:NamedThing	tooth and nail syndrome	Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.	DOVES_relaxed.owl
MONDO:0008592	biolink:NamedThing	tricho-dento-osseous syndrome	Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.	DOVES_relaxed.owl
MONDO:0008622	biolink:NamedThing	tricho-retino-dento-digital syndrome	Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.	DOVES_relaxed.owl
MONDO:0008754	biolink:NamedThing	alopecia - contractures - dwarfism - intellectual disability syndrome	Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.	DOVES_relaxed.owl
MONDO:0008812	biolink:NamedThing	AREDYLD syndrome	AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.	DOVES_relaxed.owl
MONDO:0008884	biolink:NamedThing	oculoosteocutaneous syndrome	A syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0008934	biolink:NamedThing	cerebellar ataxia-ectodermal dysplasia syndrome	Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.	DOVES_relaxed.owl
MONDO:0009032	biolink:NamedThing	cranioectodermal dysplasia	Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).	DOVES_relaxed.owl
MONDO:0009084	biolink:NamedThing	conductive deafness-ptosis-skeletal anomalies syndrome	Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.	DOVES_relaxed.owl
MONDO:0009095	biolink:NamedThing	dermatoosteolysis, Kirghizian type	Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0009146	biolink:NamedThing	ectodermal dysplasia-sensorineural deafness syndrome	Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0009149	biolink:NamedThing	ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome	Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.	DOVES_relaxed.owl
MONDO:0009150	biolink:NamedThing	hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome	Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0009185	biolink:NamedThing	amelocerebrohypohidrotic syndrome	Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.	DOVES_relaxed.owl
MONDO:0009522	biolink:NamedThing	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.	DOVES_relaxed.owl
MONDO:0009771	biolink:NamedThing	oculotrichodysplasia	Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0009873	biolink:NamedThing	pilodental dysplasia-refractive errors syndrome	Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.	DOVES_relaxed.owl
MONDO:0009901	biolink:NamedThing	Bartsocas-Papas syndrome	Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.	DOVES_relaxed.owl
MONDO:0010102	biolink:NamedThing	taurodontia-absent teeth-sparse hair syndrome	This syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.	DOVES_relaxed.owl
MONDO:0010152	biolink:NamedThing	trichomegaly-retina pigmentary degeneration-dwarfism syndrome	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.	DOVES_relaxed.owl
MONDO:0010153	biolink:NamedThing	trichoodontoonychial dysplasia	Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	DOVES_relaxed.owl
MONDO:0010295	biolink:NamedThing	anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.	DOVES_relaxed.owl
MONDO:0010854	biolink:NamedThing	Toriello-Lacassie-Droste syndrome	Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.	DOVES_relaxed.owl
MONDO:0011034	biolink:NamedThing	odontomicronychial dysplasia	Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.	DOVES_relaxed.owl
MONDO:0011041	biolink:NamedThing	ectodermal dysplasia with natal teeth, Turnpenny type	Ectodermal dysplasia with natal teeth, Turnpenny type is characterised by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant.	DOVES_relaxed.owl
MONDO:0011063	biolink:NamedThing	hidrotic ectodermal dysplasia, Christianson-Fourie type	Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.	DOVES_relaxed.owl
MONDO:0011083	biolink:NamedThing	trichodental syndrome	Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0011131	biolink:NamedThing	tricho-oculo-dermo-vertebral syndrome		DOVES_relaxed.owl
MONDO:0011171	biolink:NamedThing	odonto-tricho-ungual-digito-palmar syndrome	Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait.	DOVES_relaxed.owl
MONDO:0011219	biolink:NamedThing	Fried's tooth and nail syndrome		DOVES_relaxed.owl
MONDO:0011472	biolink:NamedThing	epidermolysis bullosa simplex due to plakophilin deficiency	Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.	DOVES_relaxed.owl
MONDO:0011581	biolink:NamedThing	arrhythmogenic cardiomyopathy with woolly hair and keratoderma	A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including woolly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features.	DOVES_relaxed.owl
MONDO:0011884	biolink:NamedThing	hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.	DOVES_relaxed.owl
MONDO:0012008	biolink:NamedThing	Lelis syndrome	Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.	DOVES_relaxed.owl
MONDO:0013311	biolink:NamedThing	ectodermal dysplasia-syndactyly syndrome	Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.	DOVES_relaxed.owl
MONDO:0013973	biolink:NamedThing	ectodermal dysplasia 5, hair/nail type		DOVES_relaxed.owl
MONDO:0015024	biolink:NamedThing	ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.	DOVES_relaxed.owl
MONDO:0015428	biolink:NamedThing	choroidal atrophy-alopecia syndrome	Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.	DOVES_relaxed.owl
MONDO:0015883	biolink:NamedThing	hidrotic ectodermal dysplasia, Halal type	Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0017134	biolink:NamedThing	odonto-onycho dysplasia-alopecia syndrome	Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.	DOVES_relaxed.owl
MONDO:0017321	biolink:NamedThing	pili torti-onychodysplasia syndrome	Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0017922	biolink:NamedThing	deafness-onychodystrophy syndrome	Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.	DOVES_relaxed.owl
MONDO:0018061	biolink:NamedThing	trichodermodysplasia-dental alterations syndrome	Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.	DOVES_relaxed.owl
MONDO:0018062	biolink:NamedThing	autosomal dominant trichoodontoonychodysplasia-syndactyly		DOVES_relaxed.owl
MONDO:0018363	biolink:NamedThing	focal facial dermal dysplasia	Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.	DOVES_relaxed.owl
MONDO:0019071	biolink:NamedThing	pure hair and nail ectodermal dysplasia	Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0019205	biolink:NamedThing	trichodysplasia-amelogenesis imperfecta syndrome	The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.	DOVES_relaxed.owl
MONDO:0019206	biolink:NamedThing	sparse hair-short stature-skin anomalies syndrome	Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked.	DOVES_relaxed.owl
MONDO:0020475	biolink:NamedThing	dermotrichic syndrome		DOVES_relaxed.owl
MONDO:0022432	biolink:NamedThing	alves Castelo dos Santos syndrome		DOVES_relaxed.owl
MONDO:0022611	biolink:NamedThing	Brunoni syndrome		DOVES_relaxed.owl
MONDO:0023040	biolink:NamedThing	ectodermal dysplasia Bartalos type		DOVES_relaxed.owl
MONDO:0023041	biolink:NamedThing	ectodermal dysplasia Berlin type		DOVES_relaxed.owl
MONDO:0023042	biolink:NamedThing	ectodermal dysplasia margarita type		DOVES_relaxed.owl
MONDO:0023045	biolink:NamedThing	ectodermal dysplasia arthrogryposis diabetes mellitus		DOVES_relaxed.owl
MONDO:0023046	biolink:NamedThing	ectodermal dysplasia blindness		DOVES_relaxed.owl
MONDO:0023048	biolink:NamedThing	ectodermal dysplasia neurosensory deafness		DOVES_relaxed.owl
MONDO:0032584	biolink:NamedThing	ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis		DOVES_relaxed.owl
MONDO:0032804	biolink:NamedThing	ectodermal dysplasia 15, hypohidrotic/hair type		DOVES_relaxed.owl
MONDO:0043110	biolink:NamedThing	jones hersh yusk syndrome		DOVES_relaxed.owl
MONDO:0044305	biolink:NamedThing	ectodermal dysplasia 13, hair/tooth type		DOVES_relaxed.owl
MONDO:0044406	biolink:NamedThing	arthrogryposis-ectodermal dysplasia-other anomalies syndrome		DOVES_relaxed.owl
MONDO:0100358	biolink:NamedThing	ectodermal dysplasia WNT10A related		DOVES_relaxed.owl
MONDO:0010520	biolink:NamedThing	X-linked Alport syndrome	X-linked form of Alport syndrome.	DOVES_relaxed.owl
MONDO:0007087	biolink:NamedThing	alternating hemiplegia of childhood 1	Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene.	DOVES_relaxed.owl
MONDO:0013900	biolink:NamedThing	alternating hemiplegia of childhood 2	Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene.	DOVES_relaxed.owl
MONDO:0007088	biolink:NamedThing	Alzheimer disease type 1		DOVES_relaxed.owl
MONDO:0011194	biolink:NamedThing	Alzheimer disease 5		DOVES_relaxed.owl
MONDO:0011401	biolink:NamedThing	Alzheimer disease without neurofibrillary tangles		DOVES_relaxed.owl
MONDO:0011513	biolink:NamedThing	Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology		DOVES_relaxed.owl
MONDO:0011561	biolink:NamedThing	Alzheimer disease 6	An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.	DOVES_relaxed.owl
MONDO:0011647	biolink:NamedThing	Alzheimer disease 7	An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.	DOVES_relaxed.owl
MONDO:0011743	biolink:NamedThing	Alzheimer disease 4	Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.	DOVES_relaxed.owl
MONDO:0011777	biolink:NamedThing	Alzheimer disease 8	An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.	DOVES_relaxed.owl
MONDO:0011913	biolink:NamedThing	Alzheimer disease 3	Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.	DOVES_relaxed.owl
MONDO:0012321	biolink:NamedThing	Alzheimer disease 10	An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.	DOVES_relaxed.owl
MONDO:0012344	biolink:NamedThing	Alzheimer disease 11	An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.	DOVES_relaxed.owl
MONDO:0012609	biolink:NamedThing	Alzheimer disease 12	An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.	DOVES_relaxed.owl
MONDO:0012630	biolink:NamedThing	Alzheimer disease 13	An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.	DOVES_relaxed.owl
MONDO:0012631	biolink:NamedThing	Alzheimer disease 14	An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.	DOVES_relaxed.owl
MONDO:0007089	biolink:NamedThing	Alzheimer disease 2	An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.	DOVES_relaxed.owl
MONDO:0100087	biolink:NamedThing	familial Alzheimer disease	A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.	DOVES_relaxed.owl
MONDO:0015047	biolink:NamedThing	amelogenesis imperfecta type 1		DOVES_relaxed.owl
MONDO:0007094	biolink:NamedThing	amelogenesis imperfecta type 1A	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene.	DOVES_relaxed.owl
MONDO:0008770	biolink:NamedThing	amelogenesis imperfecta type 1C		DOVES_relaxed.owl
MONDO:0014540	biolink:NamedThing	amelogenesis imperfecta type 1H	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene.	DOVES_relaxed.owl
MONDO:0014560	biolink:NamedThing	amelogenesis imperfecta type 1F	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene.	DOVES_relaxed.owl
MONDO:0015008	biolink:NamedThing	amelogenesis imperfecta, type 1J		DOVES_relaxed.owl
MONDO:0007093	biolink:NamedThing	hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.	DOVES_relaxed.owl
MONDO:0007538	biolink:NamedThing	amelogenesis imperfecta, type 3A	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene.	DOVES_relaxed.owl
MONDO:0010522	biolink:NamedThing	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.	DOVES_relaxed.owl
MONDO:0015048	biolink:NamedThing	amelogenesis imperfecta type 2		DOVES_relaxed.owl
MONDO:0021547	biolink:NamedThing	amelogenesis imperfecta type 3B		DOVES_relaxed.owl
MONDO:0031084	biolink:NamedThing	amelogenesis imperfecta, IIa 1K		DOVES_relaxed.owl
MONDO:0032717	biolink:NamedThing	amelogenesis imperfecta, type 3c		DOVES_relaxed.owl
MONDO:0007486	biolink:NamedThing	hereditary benign intraepithelial dyskeratosis	A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.	DOVES_relaxed.owl
MONDO:0009015	biolink:NamedThing	corneal dystrophy-perceptive deafness syndrome	Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.	DOVES_relaxed.owl
MONDO:0010064	biolink:NamedThing	spastic ataxia-corneal dystrophy syndrome	Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia.	DOVES_relaxed.owl
MONDO:0010082	biolink:NamedThing	subaortic stenosis-short stature syndrome		DOVES_relaxed.owl
MONDO:0010579	biolink:NamedThing	X-linked corneal dermoid	X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.	DOVES_relaxed.owl
MONDO:0017264	biolink:NamedThing	syndromic recessive X-linked ichthyosis	Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome.	DOVES_relaxed.owl
MONDO:0018988	biolink:NamedThing	iridocorneal endothelial syndrome	Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications	DOVES_relaxed.owl
MONDO:0007098	biolink:NamedThing	ACys amyloidosis	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.	DOVES_relaxed.owl
MONDO:0007297	biolink:NamedThing	ADan amyloidosis	A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.	DOVES_relaxed.owl
MONDO:0008306	biolink:NamedThing	ABri amyloidosis	A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.	DOVES_relaxed.owl
MONDO:0011583	biolink:NamedThing	cerebral amyloid angiopathy, APP-related	A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.	DOVES_relaxed.owl
MONDO:0015302	biolink:NamedThing	nodular cutaneous amyloidosis	Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome.	DOVES_relaxed.owl
MONDO:0015303	biolink:NamedThing	macular amyloidosis	Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.	DOVES_relaxed.owl
MONDO:0017906	biolink:NamedThing	amyloidosis cutis dyschromia	Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.	DOVES_relaxed.owl
MONDO:0018856	biolink:NamedThing	lichen amyloidosis	Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.	DOVES_relaxed.owl
MONDO:0007103	biolink:NamedThing	amyotrophic lateral sclerosis type 1		DOVES_relaxed.owl
MONDO:0007105	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene.	DOVES_relaxed.owl
MONDO:0008458	biolink:NamedThing	spinocerebellar ataxia type 2	Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.	DOVES_relaxed.owl
MONDO:0010459	biolink:NamedThing	amyotrophic lateral sclerosis type 15	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene.	DOVES_relaxed.owl
MONDO:0010936	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene.	DOVES_relaxed.owl
MONDO:0011223	biolink:NamedThing	amyotrophic lateral sclerosis type 4	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene.	DOVES_relaxed.owl
MONDO:0011632	biolink:NamedThing	amyotrophic lateral sclerosis type 21	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene.	DOVES_relaxed.owl
MONDO:0011691	biolink:NamedThing	amyotrophic lateral sclerosis type 3		DOVES_relaxed.owl
MONDO:0011951	biolink:NamedThing	amyotrophic lateral sclerosis type 6	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene.	DOVES_relaxed.owl
MONDO:0011952	biolink:NamedThing	amyotrophic lateral sclerosis type 7		DOVES_relaxed.owl
MONDO:0012077	biolink:NamedThing	amyotrophic lateral sclerosis type 8	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene.	DOVES_relaxed.owl
MONDO:0012753	biolink:NamedThing	amyotrophic lateral sclerosis type 9	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene.	DOVES_relaxed.owl
MONDO:0012790	biolink:NamedThing	amyotrophic lateral sclerosis type 10	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene.	DOVES_relaxed.owl
MONDO:0012945	biolink:NamedThing	amyotrophic lateral sclerosis type 11	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene.	DOVES_relaxed.owl
MONDO:0013264	biolink:NamedThing	amyotrophic lateral sclerosis type 12	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene.	DOVES_relaxed.owl
MONDO:0013501	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene.	DOVES_relaxed.owl
MONDO:0013891	biolink:NamedThing	amyotrophic lateral sclerosis type 18	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene.	DOVES_relaxed.owl
MONDO:0014181	biolink:NamedThing	amyotrophic lateral sclerosis type 20	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene.	DOVES_relaxed.owl
MONDO:0014223	biolink:NamedThing	amyotrophic lateral sclerosis type 19	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene.	DOVES_relaxed.owl
MONDO:0014395	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis 2	An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.	DOVES_relaxed.owl
MONDO:0014531	biolink:NamedThing	amyotrophic lateral sclerosis type 22	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene.	DOVES_relaxed.owl
MONDO:0014640	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis 3	An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35.	DOVES_relaxed.owl
MONDO:0014641	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis 4	An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.	DOVES_relaxed.owl
MONDO:0017593	biolink:NamedThing	juvenile amyotrophic lateral sclerosis	Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.	DOVES_relaxed.owl
MONDO:0027694	biolink:NamedThing	amyotrophic lateral sclerosis type 23		DOVES_relaxed.owl
MONDO:0030872	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis 8		DOVES_relaxed.owl
MONDO:0030875	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis 5		DOVES_relaxed.owl
MONDO:0030885	biolink:NamedThing	amyotrophic lateral sclerosis 26 with or without frontotemporal dementia		DOVES_relaxed.owl
MONDO:0010444	biolink:NamedThing	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia		DOVES_relaxed.owl
MONDO:0012992	biolink:NamedThing	pancreatic insufficiency-anemia-hyperostosis syndrome	This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.	DOVES_relaxed.owl
MONDO:0019031	biolink:NamedThing	thrombocytopenia with congenital dyserythropoietic anemia	Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.	DOVES_relaxed.owl
MONDO:0030711	biolink:NamedThing	Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive		DOVES_relaxed.owl
MONDO:0007110	biolink:NamedThing	Diamond-Blackfan anemia 1	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.	DOVES_relaxed.owl
MONDO:0015253	biolink:NamedThing	Diamond-Blackfan anemia	A congenital aregenerative and often macrocytic anemia with erythroblastopenia.	DOVES_relaxed.owl
MONDO:0010493	biolink:NamedThing	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.	DOVES_relaxed.owl
MONDO:0011639	biolink:NamedThing	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.	DOVES_relaxed.owl
MONDO:0012529	biolink:NamedThing	Diamond-Blackfan anemia 3	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene.	DOVES_relaxed.owl
MONDO:0012924	biolink:NamedThing	Diamond-Blackfan anemia 4	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene.	DOVES_relaxed.owl
MONDO:0012925	biolink:NamedThing	Diamond-Blackfan anemia 5	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene.	DOVES_relaxed.owl
MONDO:0012937	biolink:NamedThing	Diamond-Blackfan anemia 6	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene.	DOVES_relaxed.owl
MONDO:0012938	biolink:NamedThing	Diamond-Blackfan anemia 7	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene.	DOVES_relaxed.owl
MONDO:0012939	biolink:NamedThing	Diamond-Blackfan anemia 8	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene.	DOVES_relaxed.owl
MONDO:0013216	biolink:NamedThing	Diamond-Blackfan anemia 9	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene.	DOVES_relaxed.owl
MONDO:0013217	biolink:NamedThing	Diamond-Blackfan anemia 10	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene.	DOVES_relaxed.owl
MONDO:0013964	biolink:NamedThing	Diamond-Blackfan anemia 11	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene.	DOVES_relaxed.owl
MONDO:0014245	biolink:NamedThing	Diamond-Blackfan anemia 12	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene.	DOVES_relaxed.owl
MONDO:0014394	biolink:NamedThing	Diamond-Blackfan anemia 13	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene.	DOVES_relaxed.owl
MONDO:0031071	biolink:NamedThing	diamond-blackfan anemia 21		DOVES_relaxed.owl
MONDO:0032668	biolink:NamedThing	Diamond-Blackfan anemia 18		DOVES_relaxed.owl
MONDO:0032669	biolink:NamedThing	Diamond-Blackfan anemia 19		DOVES_relaxed.owl
MONDO:0032670	biolink:NamedThing	Diamond-Blackfan anemia 20		DOVES_relaxed.owl
MONDO:0044309	biolink:NamedThing	Diamond-Blackfan anemia 16		DOVES_relaxed.owl
MONDO:0044310	biolink:NamedThing	Diamond-Blackfan anemia 17		DOVES_relaxed.owl
MONDO:0007111	biolink:NamedThing	aneurysm, intracranial berry type 1		DOVES_relaxed.owl
MONDO:0010468	biolink:NamedThing	aneurysm, intracranial berry, 5		DOVES_relaxed.owl
MONDO:0012053	biolink:NamedThing	aneurysm, intracranial berry, 2		DOVES_relaxed.owl
MONDO:0012194	biolink:NamedThing	aneurysm, intracranial berry, 3		DOVES_relaxed.owl
MONDO:0012443	biolink:NamedThing	aneurysm, intracranial berry, 4		DOVES_relaxed.owl
MONDO:0012752	biolink:NamedThing	aneurysm, intracranial berry, 6		DOVES_relaxed.owl
MONDO:0012810	biolink:NamedThing	aneurysm, intracranial berry, 7		DOVES_relaxed.owl
MONDO:0012811	biolink:NamedThing	aneurysm, intracranial berry, 8		DOVES_relaxed.owl
MONDO:0012949	biolink:NamedThing	aneurysm, intracranial berry, 9		DOVES_relaxed.owl
MONDO:0012950	biolink:NamedThing	aneurysm, intracranial berry, 10		DOVES_relaxed.owl
MONDO:0013654	biolink:NamedThing	aneurysm, intracranial berry, 11		DOVES_relaxed.owl
MONDO:0032891	biolink:NamedThing	aneurysm, intracranial berry, 12		DOVES_relaxed.owl
MONDO:0007112	biolink:NamedThing	interventricular septum aneurysm	Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.	DOVES_relaxed.owl
MONDO:0020427	biolink:NamedThing	Laubry-Pezzi syndrome	Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.	DOVES_relaxed.owl
MONDO:0007115	biolink:NamedThing	angioma serpiginosum, autosomal dominant		DOVES_relaxed.owl
MONDO:0010391	biolink:NamedThing	angioma serpiginosum, X-linked		DOVES_relaxed.owl
MONDO:0015217	biolink:NamedThing	non-syndromic developmental defect of the eye	A developmental defect of the eye that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0007410	biolink:NamedThing	isolated cryptophthalmia	Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0019626	biolink:NamedThing	isolated ankyloblepharon filiforme adnatum	Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.	DOVES_relaxed.owl
MONDO:0007120	biolink:NamedThing	aniridia-absent patella syndrome	Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.	DOVES_relaxed.owl
MONDO:0008795	biolink:NamedThing	aniridia-cerebellar ataxia-intellectual disability syndrome	Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.	DOVES_relaxed.owl
MONDO:0015198	biolink:NamedThing	aniridia-ptosis-intellectual disability-familial obesity syndrome	Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.	DOVES_relaxed.owl
MONDO:0015199	biolink:NamedThing	aniridia - intellectual disability syndrome	Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.	DOVES_relaxed.owl
MONDO:0043071	biolink:NamedThing	Zazam Sheriff Phillips syndrome		DOVES_relaxed.owl
MONDO:0020156	biolink:NamedThing	syndromic ankyloblepharon		DOVES_relaxed.owl
MONDO:0015201	biolink:NamedThing	ankyloblepharon filiforme-imperforate anus syndrome	An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.	DOVES_relaxed.owl
MONDO:0800090	biolink:NamedThing	ectrodactyly with and without other manifestations		DOVES_relaxed.owl
MONDO:0008464	biolink:NamedThing	split hand-foot malformation 1	Split-hand/foot malformation mapped to chromosome 7q21.3	DOVES_relaxed.owl
MONDO:0009157	biolink:NamedThing	split hand-foot malformation 6	Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.	DOVES_relaxed.owl
MONDO:0011428	biolink:NamedThing	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.	DOVES_relaxed.owl
MONDO:0011535	biolink:NamedThing	split hand-foot malformation 4	Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene.	DOVES_relaxed.owl
MONDO:0007126	biolink:NamedThing	spondyloarthropathy, susceptibility to, 1	Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene.	DOVES_relaxed.owl
MONDO:0008468	biolink:NamedThing	spondyloarthropathy, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0013192	biolink:NamedThing	spondyloarthropathy, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0007129	biolink:NamedThing	tooth agenesis, selective, 1	Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene.	DOVES_relaxed.owl
MONDO:0007881	biolink:NamedThing	tooth agenesis, selective, 4	Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene.	DOVES_relaxed.owl
MONDO:0010741	biolink:NamedThing	tooth agenesis, selective, X-linked, 1	Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene.	DOVES_relaxed.owl
MONDO:0011265	biolink:NamedThing	tooth agenesis, selective, 2		DOVES_relaxed.owl
MONDO:0011477	biolink:NamedThing	tooth agenesis, selective, 3	Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.	DOVES_relaxed.owl
MONDO:0012583	biolink:NamedThing	tooth agenesis, selective, 5		DOVES_relaxed.owl
MONDO:0014749	biolink:NamedThing	tooth agenesis, selective, 7	Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene.	DOVES_relaxed.owl
MONDO:0014901	biolink:NamedThing	tooth agenesis, selective, 8	Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene.	DOVES_relaxed.owl
MONDO:0014999	biolink:NamedThing	tooth agenesis, selective, 9	Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene.	DOVES_relaxed.owl
MONDO:0007130	biolink:NamedThing	congenital total pulmonary venous return anomaly	Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.	DOVES_relaxed.owl
MONDO:0017705	biolink:NamedThing	congenital pulmonary venous return anomaly	Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous.	DOVES_relaxed.owl
MONDO:0020453	biolink:NamedThing	congenital partial pulmonary venous return anomaly	Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.	DOVES_relaxed.owl
MONDO:0800093	biolink:NamedThing	dysostosis with brachydactyly without extraskeletal manifestations		DOVES_relaxed.owl
MONDO:0007215	biolink:NamedThing	brachydactyly type A1	Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.	DOVES_relaxed.owl
MONDO:0007220	biolink:NamedThing	brachydactyly type B1	Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene.	DOVES_relaxed.owl
MONDO:0007221	biolink:NamedThing	brachydactyly type C		DOVES_relaxed.owl
MONDO:0007222	biolink:NamedThing	brachydactyly type D	A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.	DOVES_relaxed.owl
MONDO:0007223	biolink:NamedThing	brachydactyly type E1	Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.	DOVES_relaxed.owl
MONDO:0012658	biolink:NamedThing	brachydactyly type B2	Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.	DOVES_relaxed.owl
MONDO:0013244	biolink:NamedThing	brachydactyly type E2	Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.	DOVES_relaxed.owl
MONDO:0007135	biolink:NamedThing	nonsyndromic congenital nail disorder 6		DOVES_relaxed.owl
MONDO:0019211	biolink:NamedThing	isolated congenital anonychia	Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.	DOVES_relaxed.owl
MONDO:0008798	biolink:NamedThing	nonsyndromic congenital nail disorder 4	Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.	DOVES_relaxed.owl
MONDO:0019577	biolink:NamedThing	anonychia-onychodystrophy syndrome		DOVES_relaxed.owl
MONDO:0100469	biolink:NamedThing	anosmia, isolated congenital, X-linked	X-linked form of anosmia, isolated congenital.	DOVES_relaxed.owl
MONDO:0007138	biolink:NamedThing	anterior segment dysgenesis 1		DOVES_relaxed.owl
MONDO:0010015	biolink:NamedThing	anterior segment dysgenesis 7	Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene.	DOVES_relaxed.owl
MONDO:0011119	biolink:NamedThing	iridogoniodysgenesis		DOVES_relaxed.owl
MONDO:0015016	biolink:NamedThing	anterior segment dysgenesis 6		DOVES_relaxed.owl
MONDO:0015017	biolink:NamedThing	anterior segment dysgenesis 8	Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene.	DOVES_relaxed.owl
MONDO:0033810	biolink:NamedThing	isolated iridoschisis		DOVES_relaxed.owl
MONDO:0008305	biolink:NamedThing	Currarino triad	Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).	DOVES_relaxed.owl
MONDO:0009039	biolink:NamedThing	Baller-Gerold syndrome	Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).	DOVES_relaxed.owl
MONDO:0009344	biolink:NamedThing	Hirschsprung disease-nail hypoplasia-dysmorphism syndrome	Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988.	DOVES_relaxed.owl
MONDO:0010668	biolink:NamedThing	skeletal dysplasia-intellectual disability syndrome	Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.	DOVES_relaxed.owl
MONDO:0010989	biolink:NamedThing	Mayer-Rokitansky-Küster-Hauser syndrome type 2	Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.	DOVES_relaxed.owl
MONDO:0011248	biolink:NamedThing	distal monosomy 13q	Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.	DOVES_relaxed.owl
MONDO:0011928	biolink:NamedThing	caudal duplication	Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.	DOVES_relaxed.owl
MONDO:0013082	biolink:NamedThing	Hirschsprung disease-ganglioneuroblastoma syndrome	A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.	DOVES_relaxed.owl
MONDO:0013127	biolink:NamedThing	asphyxiating thoracic dystrophy 3	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.	DOVES_relaxed.owl
MONDO:0015944	biolink:NamedThing	axial mesodermal dysplasia spectrum	Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.	DOVES_relaxed.owl
MONDO:0016568	biolink:NamedThing	Lowe-Kohn-Cohen syndrome	Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.	DOVES_relaxed.owl
MONDO:0017573	biolink:NamedThing	46,XX disorder of sex development-anorectal anomalies syndrome	46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.	DOVES_relaxed.owl
MONDO:0019164	biolink:NamedThing	6q terminal deletion syndrome	6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.	DOVES_relaxed.owl
MONDO:0019902	biolink:NamedThing	monosomy 13q34	Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.	DOVES_relaxed.owl
MONDO:0019907	biolink:NamedThing	ring chromosome 13	Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.	DOVES_relaxed.owl
MONDO:0019916	biolink:NamedThing	maternal uniparental disomy of chromosome 16		DOVES_relaxed.owl
MONDO:0007145	biolink:NamedThing	aplasia cutis congenita	Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.	DOVES_relaxed.owl
MONDO:0010876	biolink:NamedThing	recessive aplasia cutis congenita of limbs	Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.	DOVES_relaxed.owl
MONDO:0015500	biolink:NamedThing	facial arteriovenous malformation	Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy.	DOVES_relaxed.owl
MONDO:0007345	biolink:NamedThing	aorta coarctation	Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps.	DOVES_relaxed.owl
MONDO:0008318	biolink:NamedThing	Proteus syndrome	Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.	DOVES_relaxed.owl
MONDO:0009931	biolink:NamedThing	pulmonary atresia-intact ventricular septum syndrome	Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.	DOVES_relaxed.owl
MONDO:0009938	biolink:NamedThing	pulmonic stenosis		DOVES_relaxed.owl
MONDO:0010081	biolink:NamedThing	subaortic stenosis, membranous		DOVES_relaxed.owl
MONDO:0007157	biolink:NamedThing	arthrogryposis, distal, type 1A		DOVES_relaxed.owl
MONDO:0007458	biolink:NamedThing	digitotalar dysmorphism; ulnar drift, hereditary		DOVES_relaxed.owl
MONDO:0013698	biolink:NamedThing	arthrogryposis, distal, type 1B		DOVES_relaxed.owl
MONDO:0007158	biolink:NamedThing	arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.	DOVES_relaxed.owl
MONDO:0007159	biolink:NamedThing	arthrogryposis-like hand anomaly-sensorineural deafness syndrome	Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.	DOVES_relaxed.owl
MONDO:0007364	biolink:NamedThing	arthrogryposis, distal, type 2E		DOVES_relaxed.owl
MONDO:0008016	biolink:NamedThing	trismus-pseudocamptodactyly syndrome		DOVES_relaxed.owl
MONDO:0011128	biolink:NamedThing	Sheldon-hall syndrome	Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.	DOVES_relaxed.owl
MONDO:0012195	biolink:NamedThing	arthrogryposis-severe scoliosis syndrome	Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.	DOVES_relaxed.owl
MONDO:0014028	biolink:NamedThing	distal arthrogryposis type 5D	Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.	DOVES_relaxed.owl
MONDO:0014941	biolink:NamedThing	arthrogryposis, distal, with impaired proprioception and touch		DOVES_relaxed.owl
MONDO:0016675	biolink:NamedThing	distal arthrogryposis type 10		DOVES_relaxed.owl
MONDO:0030847	biolink:NamedThing	arthrogryposis, distal, type 1C		DOVES_relaxed.owl
MONDO:0031045	biolink:NamedThing	arthrogryposis, distal, IIa 11		DOVES_relaxed.owl
MONDO:0800200	biolink:NamedThing	arthrogryposis, distal, type 2B4		DOVES_relaxed.owl
MONDO:0007160	biolink:NamedThing	Stickler syndrome type 1		DOVES_relaxed.owl
MONDO:0011493	biolink:NamedThing	Stickler syndrome type 2	Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).	DOVES_relaxed.owl
MONDO:0031047	biolink:NamedThing	stickler syndrome, IIa 6		DOVES_relaxed.owl
MONDO:0007562	biolink:NamedThing	multiple epiphyseal dysplasia, Beighton type	Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.	DOVES_relaxed.owl
MONDO:0007885	biolink:NamedThing	Legg-Calve-Perthes disease	A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible.	DOVES_relaxed.owl
MONDO:0007895	biolink:NamedThing	platyspondylic dysplasia, Torrance type		DOVES_relaxed.owl
MONDO:0008471	biolink:NamedThing	spondyloepiphyseal dysplasia congenita	A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.	DOVES_relaxed.owl
MONDO:0008476	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Strudwick type	A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).	DOVES_relaxed.owl
MONDO:0008478	biolink:NamedThing	spondylometaphyseal dysplasia, Schmidt type	Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.	DOVES_relaxed.owl
MONDO:0008479	biolink:NamedThing	spondylometaphyseal dysplasia, 'corner fracture' type	A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).	DOVES_relaxed.owl
MONDO:0008702	biolink:NamedThing	achondrogenesis type II	Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.	DOVES_relaxed.owl
MONDO:0010078	biolink:NamedThing	spondyloperipheral dysplasia	A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterised by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe.	DOVES_relaxed.owl
MONDO:0011496	biolink:NamedThing	mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.	DOVES_relaxed.owl
MONDO:0012206	biolink:NamedThing	Czech dysplasia, metatarsal type	Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.	DOVES_relaxed.owl
MONDO:0014701	biolink:NamedThing	spondyloepiphyseal dysplasia, Stanescu type		DOVES_relaxed.owl
MONDO:0019669	biolink:NamedThing	hypochondrogenesis		DOVES_relaxed.owl
MONDO:0054550	biolink:NamedThing	avascular necrosis of femoral head, primary, 1		DOVES_relaxed.owl
MONDO:0016227	biolink:NamedThing	hereditary episodic ataxia	Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2.	DOVES_relaxed.owl
MONDO:0011681	biolink:NamedThing	episodic ataxia type 4	Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.	DOVES_relaxed.owl
MONDO:0011682	biolink:NamedThing	episodic ataxia type 3	Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.	DOVES_relaxed.owl
MONDO:0012755	biolink:NamedThing	episodic ataxia type 7	Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.	DOVES_relaxed.owl
MONDO:0012982	biolink:NamedThing	episodic ataxia type 6	Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.	DOVES_relaxed.owl
MONDO:0013464	biolink:NamedThing	episodic ataxia type 5	Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.	DOVES_relaxed.owl
MONDO:0014476	biolink:NamedThing	episodic ataxia type 8		DOVES_relaxed.owl
MONDO:0030064	biolink:NamedThing	episodic ataxia, type 9		DOVES_relaxed.owl
MONDO:0100052	biolink:NamedThing	acetazolamide-responsive hereditary episodic ataxia	Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide.	DOVES_relaxed.owl
MONDO:0100254	biolink:NamedThing	CACNA1A-related complex neurodevelopmental disorder	A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines.	DOVES_relaxed.owl
MONDO:0014917	biolink:NamedThing	developmental and epileptic encephalopathy, 42	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene.	DOVES_relaxed.owl
MONDO:0007164	biolink:NamedThing	spastic ataxia 1	Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene.	DOVES_relaxed.owl
MONDO:0007165	biolink:NamedThing	spastic ataxia 7	Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.	DOVES_relaxed.owl
MONDO:0007166	biolink:NamedThing	ataxia with fasciculations		DOVES_relaxed.owl
MONDO:0008043	biolink:NamedThing	myoclonus-cerebellar ataxia-deafness syndrome	This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.	DOVES_relaxed.owl
MONDO:0008928	biolink:NamedThing	cataract-ataxia-deafness syndrome	Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0008980	biolink:NamedThing	ataxia-hypogonadism-choroidal dystrophy syndrome	Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.	DOVES_relaxed.owl
MONDO:0009493	biolink:NamedThing	Richards-Rundle syndrome	Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.	DOVES_relaxed.owl
MONDO:0010062	biolink:NamedThing	spinocerebellar ataxia-dysmorphism syndrome	Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0010095	biolink:NamedThing	ataxia-tapetoretinal degeneration syndrome		DOVES_relaxed.owl
MONDO:0012166	biolink:NamedThing	autosomal dominant sensory ataxia 1	Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene.	DOVES_relaxed.owl
MONDO:0013005	biolink:NamedThing	EAST syndrome	SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).	DOVES_relaxed.owl
MONDO:0014523	biolink:NamedThing	juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome		DOVES_relaxed.owl
MONDO:0017845	biolink:NamedThing	spastic ataxia		DOVES_relaxed.owl
MONDO:0100310	biolink:NamedThing	hereditary cerebellar ataxia	Cerebellar ataxia that is transmitted from parent to child.	DOVES_relaxed.owl
MONDO:0019690	biolink:NamedThing	filamin-related bone disorder		DOVES_relaxed.owl
MONDO:0008005	biolink:NamedThing	cardiospondylocarpofacial syndrome	Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.	DOVES_relaxed.owl
MONDO:0018233	biolink:NamedThing	otopalatodigital syndrome spectrum disorder	Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.	DOVES_relaxed.owl
MONDO:0007170	biolink:NamedThing	atresia of external auditory canal and conductive deafness		DOVES_relaxed.owl
MONDO:0011921	biolink:NamedThing	aural atresia, congenital		DOVES_relaxed.owl
MONDO:0007171	biolink:NamedThing	atrial standstill 1	Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene.	DOVES_relaxed.owl
MONDO:0015281	biolink:NamedThing	atrial standstill	Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.	DOVES_relaxed.owl
MONDO:0014329	biolink:NamedThing	atrial standstill 2	Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene.	DOVES_relaxed.owl
MONDO:0007181	biolink:NamedThing	axial osteomalacia		DOVES_relaxed.owl
MONDO:0015465	biolink:NamedThing	craniometaphyseal dysplasia	Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.	DOVES_relaxed.owl
MONDO:0015634	biolink:NamedThing	isolated osteopoikilosis	A osteopoikilosis (disease) that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0017198	biolink:NamedThing	osteopetrosis	Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.	DOVES_relaxed.owl
MONDO:0007182	biolink:NamedThing	Machado-Joseph disease	Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.	DOVES_relaxed.owl
MONDO:0007435	biolink:NamedThing	dentatorubral-pallidoluysian atrophy	Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.	DOVES_relaxed.owl
MONDO:0008119	biolink:NamedThing	spinocerebellar ataxia type 1	Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.	DOVES_relaxed.owl
MONDO:0011781	biolink:NamedThing	spinocerebellar ataxia type 17	A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.	DOVES_relaxed.owl
MONDO:0007298	biolink:NamedThing	spinocerebellar ataxia type 29	Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.	DOVES_relaxed.owl
MONDO:0010847	biolink:NamedThing	spinocerebellar ataxia type 4	Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy.	DOVES_relaxed.owl
MONDO:0011038	biolink:NamedThing	cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.	DOVES_relaxed.owl
MONDO:0011439	biolink:NamedThing	spinocerebellar ataxia type 12	Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.	DOVES_relaxed.owl
MONDO:0011529	biolink:NamedThing	spinocerebellar ataxia type 13	Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.	DOVES_relaxed.owl
MONDO:0011540	biolink:NamedThing	spinocerebellar ataxia type 14	Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.	DOVES_relaxed.owl
MONDO:0011694	biolink:NamedThing	spinocerebellar ataxia type 15/16	Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.	DOVES_relaxed.owl
MONDO:0011819	biolink:NamedThing	spinocerebellar ataxia type 19/22	Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.	DOVES_relaxed.owl
MONDO:0011833	biolink:NamedThing	spinocerebellar ataxia type 21	Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.	DOVES_relaxed.owl
MONDO:0011834	biolink:NamedThing	spinocerebellar ataxia type 18	Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia.	DOVES_relaxed.owl
MONDO:0012098	biolink:NamedThing	spinocerebellar ataxia type 20	Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.	DOVES_relaxed.owl
MONDO:0012103	biolink:NamedThing	spinocerebellar ataxia type 25	Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.	DOVES_relaxed.owl
MONDO:0012116	biolink:NamedThing	spinocerebellar ataxia type 8	Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.	DOVES_relaxed.owl
MONDO:0012247	biolink:NamedThing	spinocerebellar ataxia type 27	Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.	DOVES_relaxed.owl
MONDO:0012449	biolink:NamedThing	spinocerebellar ataxia type 23	Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.	DOVES_relaxed.owl
MONDO:0013485	biolink:NamedThing	spinocerebellar ataxia type 35	Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.	DOVES_relaxed.owl
MONDO:0013486	biolink:NamedThing	spinocerebellar ataxia type 32	Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males.	DOVES_relaxed.owl
MONDO:0013594	biolink:NamedThing	spinocerebellar ataxia type 36	Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.	DOVES_relaxed.owl
MONDO:0013886	biolink:NamedThing	nonprogressive cerebellar atxia with intellectual disability	Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).	DOVES_relaxed.owl
MONDO:0014410	biolink:NamedThing	spinocerebellar ataxia type 37	Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements.	DOVES_relaxed.owl
MONDO:0014475	biolink:NamedThing	spinocerebellar ataxia type 40	Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.	DOVES_relaxed.owl
MONDO:0033481	biolink:NamedThing	spinocerebellar ataxia 46		DOVES_relaxed.owl
MONDO:0800201	biolink:NamedThing	baldness, male pattern		DOVES_relaxed.owl
MONDO:0007185	biolink:NamedThing	Banki syndrome	Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.	DOVES_relaxed.owl
MONDO:0007737	biolink:NamedThing	humeroradial synostosis	Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.	DOVES_relaxed.owl
MONDO:0008518	biolink:NamedThing	calcaneonavicular coalition	A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.	DOVES_relaxed.owl
MONDO:0043083	biolink:NamedThing	coronal synostosis, syndactyly and jejunal atresia		DOVES_relaxed.owl
MONDO:0850084	biolink:NamedThing	non-syndromic pansynostosis		DOVES_relaxed.owl
MONDO:0008534	biolink:NamedThing	generalized essential telangiectasia		DOVES_relaxed.owl
MONDO:0011208	biolink:NamedThing	malignant atrophic papulosis	Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.	DOVES_relaxed.owl
MONDO:0017216	biolink:NamedThing	calciphylaxis cutis	Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation.	DOVES_relaxed.owl
MONDO:0017242	biolink:NamedThing	cutaneous collagenous vasculopathy	Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.	DOVES_relaxed.owl
MONDO:0007193	biolink:NamedThing	primary biliary cholangitis 1		DOVES_relaxed.owl
MONDO:0013079	biolink:NamedThing	primary biliary cholangitis 2		DOVES_relaxed.owl
MONDO:0013080	biolink:NamedThing	primary biliary cholangitis 3		DOVES_relaxed.owl
MONDO:0013636	biolink:NamedThing	primary biliary cholangitis 4		DOVES_relaxed.owl
MONDO:0013637	biolink:NamedThing	primary biliary cholangitis 5		DOVES_relaxed.owl
MONDO:0009010	biolink:NamedThing	aortic arch interruption	Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.	DOVES_relaxed.owl
MONDO:0017727	biolink:NamedThing	fixed subaortic stenosis	Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.	DOVES_relaxed.owl
MONDO:0019809	biolink:NamedThing	congenital aortic valve insufficiency	Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth.	DOVES_relaxed.owl
MONDO:0007195	biolink:NamedThing	bifid nose, autosomal dominant		DOVES_relaxed.owl
MONDO:0008537	biolink:NamedThing	telecanthus		DOVES_relaxed.owl
MONDO:0009258	biolink:NamedThing	classic galactosemia	Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.	DOVES_relaxed.owl
MONDO:0010350	biolink:NamedThing	premature ovarian failure 2A	Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene.	DOVES_relaxed.owl
MONDO:0010373	biolink:NamedThing	premature ovarian failure 2B	Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene.	DOVES_relaxed.owl
MONDO:0010706	biolink:NamedThing	premature ovarian failure 1	Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene.	DOVES_relaxed.owl
MONDO:0012169	biolink:NamedThing	premature ovarian failure 3		DOVES_relaxed.owl
MONDO:0012689	biolink:NamedThing	premature ovarian failure 5	Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene.	DOVES_relaxed.owl
MONDO:0012861	biolink:NamedThing	premature ovarian failure 6	Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene.	DOVES_relaxed.owl
MONDO:0013065	biolink:NamedThing	premature ovarian failure 7	Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.	DOVES_relaxed.owl
MONDO:0014321	biolink:NamedThing	premature ovarian failure 8	Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene.	DOVES_relaxed.owl
MONDO:0014322	biolink:NamedThing	premature ovarian failure 9	Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene.	DOVES_relaxed.owl
MONDO:0014520	biolink:NamedThing	46,XX ovarian dysgenesis-short stature syndrome		DOVES_relaxed.owl
MONDO:0014843	biolink:NamedThing	premature ovarian failure 11	Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene.	DOVES_relaxed.owl
MONDO:0014844	biolink:NamedThing	premature ovarian failure 12	Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.	DOVES_relaxed.owl
MONDO:0018575	biolink:NamedThing	microcephalic primordial dwarfism-insulin resistance syndrome		DOVES_relaxed.owl
MONDO:0030870	biolink:NamedThing	premature ovarian failure 17		DOVES_relaxed.owl
MONDO:0030939	biolink:NamedThing	premature ovarian failure 18		DOVES_relaxed.owl
MONDO:0030975	biolink:NamedThing	premature ovarian failure 20		DOVES_relaxed.owl
MONDO:0030985	biolink:NamedThing	premature ovarian failure 19		DOVES_relaxed.owl
MONDO:0032881	biolink:NamedThing	premature ovarian failure 16		DOVES_relaxed.owl
MONDO:0044317	biolink:NamedThing	premature ovarian failure 13		DOVES_relaxed.owl
MONDO:0044776	biolink:NamedThing	premature ovarian failure 10	Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488).	DOVES_relaxed.owl
MONDO:0044777	biolink:NamedThing	premature ovarian failure 14		DOVES_relaxed.owl
MONDO:0800317	biolink:NamedThing	premature ovarian failure 4		DOVES_relaxed.owl
MONDO:0800084	biolink:NamedThing	primary bone dysplasia with increased bone density		DOVES_relaxed.owl
MONDO:0007397	biolink:NamedThing	craniometaphyseal dysplasia, autosomal dominant		DOVES_relaxed.owl
MONDO:0007970	biolink:NamedThing	melorheostosis	Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.	DOVES_relaxed.owl
MONDO:0008157	biolink:NamedThing	Buschke-Ollendorff syndrome	Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.	DOVES_relaxed.owl
MONDO:0008172	biolink:NamedThing	hypertrophic osteoarthropathy, primary, autosomal dominant		DOVES_relaxed.owl
MONDO:0009274	biolink:NamedThing	ghosal hematodiaphyseal dysplasia	Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.	DOVES_relaxed.owl
MONDO:0009394	biolink:NamedThing	juvenile Paget disease	Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.	DOVES_relaxed.owl
MONDO:0010014	biolink:NamedThing	craniometadiaphyseal dysplasia, wormian bone type	Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.	DOVES_relaxed.owl
MONDO:0010016	biolink:NamedThing	sclerosteosis 1	Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene.	DOVES_relaxed.owl
MONDO:0010310	biolink:NamedThing	osteopathia striata with cranial sclerosis	Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.	DOVES_relaxed.owl
MONDO:0011620	biolink:NamedThing	metaphyseal dysplasia, Braun-Tinschert type	Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.	DOVES_relaxed.owl
MONDO:0013679	biolink:NamedThing	sclerosteosis 2	Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.	DOVES_relaxed.owl
MONDO:0013722	biolink:NamedThing	hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.	DOVES_relaxed.owl
MONDO:0013756	biolink:NamedThing	hypertrophic osteoarthropathy, primary, autosomal recessive, 2	Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene.	DOVES_relaxed.owl
MONDO:0021021	biolink:NamedThing	craniodiaphyseal dysplasia, autosomal dominant		DOVES_relaxed.owl
MONDO:0024546	biolink:NamedThing	hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.	DOVES_relaxed.owl
MONDO:0007209	biolink:NamedThing	Weismann-Netter syndrome	Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.	DOVES_relaxed.owl
MONDO:0019698	biolink:NamedThing	bent bone dysplasia		DOVES_relaxed.owl
MONDO:0008196	biolink:NamedThing	parastremmatic dwarfism	Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.	DOVES_relaxed.owl
MONDO:0008881	biolink:NamedThing	kyphomelic dysplasia	Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.	DOVES_relaxed.owl
MONDO:0008882	biolink:NamedThing	congenital bowing of long bones	Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.	DOVES_relaxed.owl
MONDO:0017927	biolink:NamedThing	severe lateral tibial bowing with short stature	Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.	DOVES_relaxed.owl
MONDO:0031615	biolink:NamedThing	familial bent bone dysplasia syndrome		DOVES_relaxed.owl
MONDO:0800043	biolink:NamedThing	Stüve-Wiedemann syndrome 1	A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.	DOVES_relaxed.owl
MONDO:0007212	biolink:NamedThing	brachydactyly-long thumb syndrome	Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.	DOVES_relaxed.owl
MONDO:0012137	biolink:NamedThing	Carney complex - trismus - pseudocamptodactyly syndrome	Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).	DOVES_relaxed.owl
MONDO:0007213	biolink:NamedThing	Ballard syndrome	Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature.	DOVES_relaxed.owl
MONDO:0007217	biolink:NamedThing	brachydactyly type A3		DOVES_relaxed.owl
MONDO:0007218	biolink:NamedThing	brachydactyly type A4	Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.	DOVES_relaxed.owl
MONDO:0007219	biolink:NamedThing	Osebold-Remondini syndrome	A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.	DOVES_relaxed.owl
MONDO:0007249	biolink:NamedThing	camptobrachydactyly	Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.	DOVES_relaxed.owl
MONDO:0011757	biolink:NamedThing	brachydactyly type A1B		DOVES_relaxed.owl
MONDO:0014032	biolink:NamedThing	brachydactyly type A1C	Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.	DOVES_relaxed.owl
MONDO:0014798	biolink:NamedThing	brachydactyly type A1D	Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.	DOVES_relaxed.owl
MONDO:0017424	biolink:NamedThing	non-syndromic brachydactyly		DOVES_relaxed.owl
MONDO:0019676	biolink:NamedThing	brachydactyly type B	A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons.	DOVES_relaxed.owl
MONDO:0019677	biolink:NamedThing	brachydactyly type E	Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.	DOVES_relaxed.owl
MONDO:0019678	biolink:NamedThing	brachydactyly type A5	Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.	DOVES_relaxed.owl
MONDO:0019679	biolink:NamedThing	brachydactyly type A7	Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.	DOVES_relaxed.owl
MONDO:0020701	biolink:NamedThing	brachydactyly type A1A		DOVES_relaxed.owl
MONDO:0021994	biolink:NamedThing	Berk-Tabatznik syndrome		DOVES_relaxed.owl
MONDO:0008703	biolink:NamedThing	acromesomelic dysplasia 2A	An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.	DOVES_relaxed.owl
MONDO:0008717	biolink:NamedThing	acromesomelic dysplasia 2C, Hunter-Thompson type	Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.	DOVES_relaxed.owl
MONDO:0011275	biolink:NamedThing	acromesomelic dysplasia 1, Maroteaux type	A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.	DOVES_relaxed.owl
MONDO:0012274	biolink:NamedThing	acromesomelic dysplasia 3		DOVES_relaxed.owl
MONDO:0021805	biolink:NamedThing	acromesomelic dysplasia, Campailla Martinelli type		DOVES_relaxed.owl
MONDO:0030553	biolink:NamedThing	acromesomelic dysplasia 4		DOVES_relaxed.owl
MONDO:0007224	biolink:NamedThing	brachydactyly, type E, with atrial septal defect, type 2		DOVES_relaxed.owl
MONDO:0007794	biolink:NamedThing	hypogonadotropic hypogonadism 7 with or without anosmia	A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.	DOVES_relaxed.owl
MONDO:0009419	biolink:NamedThing	Woodhouse-Sakati syndrome	Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.	DOVES_relaxed.owl
MONDO:0016384	biolink:NamedThing	hypogonadotropic hypogonadism-frontoparietal alopecia syndrome	This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.	DOVES_relaxed.owl
MONDO:0016386	biolink:NamedThing	hypogonadotropic hypogonadism-retinitis pigmentosa syndrome	This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.	DOVES_relaxed.owl
MONDO:0016393	biolink:NamedThing	hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.	DOVES_relaxed.owl
MONDO:0016553	biolink:NamedThing	isolated congenital hypogonadotropic hypogonadism	A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0016819	biolink:NamedThing	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome	This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.	DOVES_relaxed.owl
MONDO:0019505	biolink:NamedThing	hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia.	DOVES_relaxed.owl
MONDO:0013360	biolink:NamedThing	brachyolmia, Maroteaux type	Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.	DOVES_relaxed.owl
MONDO:0018240	biolink:NamedThing	TRPV4-related bone disorder		DOVES_relaxed.owl
MONDO:0007986	biolink:NamedThing	metatropic dysplasia	Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.	DOVES_relaxed.owl
MONDO:0008473	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Maroteaux type	A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.	DOVES_relaxed.owl
MONDO:0008477	biolink:NamedThing	spondylometaphyseal dysplasia, Kozlowski type	Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.	DOVES_relaxed.owl
MONDO:0015376	biolink:NamedThing	first branchial cleft anomaly		DOVES_relaxed.owl
MONDO:0015377	biolink:NamedThing	third branchial cleft anomaly		DOVES_relaxed.owl
MONDO:0015378	biolink:NamedThing	fourth branchial cleft anomaly		DOVES_relaxed.owl
MONDO:0015383	biolink:NamedThing	cervicofacial fibrochondroma		DOVES_relaxed.owl
MONDO:0015410	biolink:NamedThing	nasal dorsum fistula/cyst		DOVES_relaxed.owl
MONDO:0015477	biolink:NamedThing	pinnae fistula or cyst	Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated.	DOVES_relaxed.owl
MONDO:0007236	biolink:NamedThing	branchiootorenal syndrome 1		DOVES_relaxed.owl
MONDO:0012575	biolink:NamedThing	branchiootorenal syndrome 2	Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene.	DOVES_relaxed.owl
MONDO:0015854	biolink:NamedThing	supernumerary breasts		DOVES_relaxed.owl
MONDO:0007238	biolink:NamedThing	amastia	Absence of one or both mammary glands.	DOVES_relaxed.owl
MONDO:0014450	biolink:NamedThing	breasts and/or nipples, aplasia or hypoplasia of, 2	Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene.	DOVES_relaxed.owl
MONDO:0100490	biolink:NamedThing	breasts and/or nipples, aplasia or hypoplasia of, 1		DOVES_relaxed.owl
MONDO:0007239	biolink:NamedThing	epidermolytic ichthyosis	A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.	DOVES_relaxed.owl
MONDO:0017266	biolink:NamedThing	keratinopathic ichthyosis		DOVES_relaxed.owl
MONDO:0007808	biolink:NamedThing	ichthyosis hystrix of Curth-Macklin	Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).	DOVES_relaxed.owl
MONDO:0007809	biolink:NamedThing	ichthyosis hystrix gravior		DOVES_relaxed.owl
MONDO:0007813	biolink:NamedThing	superficial epidermolytic ichthyosis	Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.	DOVES_relaxed.owl
MONDO:0044656	biolink:NamedThing	epidermolytic nevus		DOVES_relaxed.owl
MONDO:0007701	biolink:NamedThing	progressive familial heart block type II		DOVES_relaxed.owl
MONDO:0011474	biolink:NamedThing	progressive familial heart block type IB	Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.	DOVES_relaxed.owl
MONDO:0018813	biolink:NamedThing	high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement		DOVES_relaxed.owl
MONDO:0008970	biolink:NamedThing	chondrodysplasia Blomstrand type	Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.	DOVES_relaxed.owl
MONDO:0009821	biolink:NamedThing	lethal osteosclerotic bone dysplasia	Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.	DOVES_relaxed.owl
MONDO:0011051	biolink:NamedThing	lethal short-limb skeletal dysplasia, Al Gazali type		DOVES_relaxed.owl
MONDO:0011217	biolink:NamedThing	desmosterolosis	Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.	DOVES_relaxed.owl
MONDO:0016357	biolink:NamedThing	dysplastic cortical hyperostosis		DOVES_relaxed.owl
MONDO:0009165	biolink:NamedThing	Aicardi-Goutieres syndrome 1	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene.	DOVES_relaxed.owl
MONDO:0012429	biolink:NamedThing	Aicardi-Goutieres syndrome 2	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene.	DOVES_relaxed.owl
MONDO:0012471	biolink:NamedThing	Aicardi-Goutieres syndrome 3	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene.	DOVES_relaxed.owl
MONDO:0012472	biolink:NamedThing	Aicardi-Goutieres syndrome 4	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene.	DOVES_relaxed.owl
MONDO:0013059	biolink:NamedThing	Aicardi-Goutieres syndrome 5	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene.	DOVES_relaxed.owl
MONDO:0014007	biolink:NamedThing	Aicardi-Goutieres syndrome 6	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene.	DOVES_relaxed.owl
MONDO:0014367	biolink:NamedThing	Aicardi-Goutieres syndrome 7	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene.	DOVES_relaxed.owl
MONDO:0030361	biolink:NamedThing	Aicardi-Goutieres syndrome 8	A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification.	DOVES_relaxed.owl
MONDO:0030362	biolink:NamedThing	Aicardi-Goutieres syndrome 9	A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure.	DOVES_relaxed.owl
MONDO:0007248	biolink:NamedThing	hereditary painful callosities	Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin.	DOVES_relaxed.owl
MONDO:0017673	biolink:NamedThing	isolated focal palmoplantar keratoderma	A focal palmoplantar keratoderma that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0013073	biolink:NamedThing	palmoplantar keratoderma, nonepidermolytic, focal 1	Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene.	DOVES_relaxed.owl
MONDO:0014622	biolink:NamedThing	isolated focal non-epidermolytic palmoplantar keratoderma		DOVES_relaxed.owl
MONDO:0018252	biolink:NamedThing	focal palmoplantar keratoderma with joint keratoses		DOVES_relaxed.owl
MONDO:0018865	biolink:NamedThing	striate palmoplantar keratoderma	Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.	DOVES_relaxed.owl
MONDO:0007250	biolink:NamedThing	camptodactyly of fingers	Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.	DOVES_relaxed.owl
MONDO:0017428	biolink:NamedThing	congenital deformities of fingers		DOVES_relaxed.owl
MONDO:0017461	biolink:NamedThing	familial isolated clinodactyly of fingers	Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.	DOVES_relaxed.owl
MONDO:0009302	biolink:NamedThing	XY type gonadal dysgenesis-associated anomalies syndrome	Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.	DOVES_relaxed.owl
MONDO:0010268	biolink:NamedThing	X-linked lissencephaly with abnormal genitalia	X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit.	DOVES_relaxed.owl
MONDO:0010271	biolink:NamedThing	X-linked myotubular myopathy-abnormal genitalia syndrome	X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.	DOVES_relaxed.owl
MONDO:0010824	biolink:NamedThing	disorder of sex development-intellectual disability syndrome	A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.	DOVES_relaxed.owl
MONDO:0012164	biolink:NamedThing	Meacham syndrome	Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.	DOVES_relaxed.owl
MONDO:0015605	biolink:NamedThing	distal monosomy 9p	Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.	DOVES_relaxed.owl
MONDO:0017966	biolink:NamedThing	46,XY disorder of gonadal development		DOVES_relaxed.owl
MONDO:0017969	biolink:NamedThing	46,XY disorder of sex development of endocrine origin		DOVES_relaxed.owl
MONDO:0043120	biolink:NamedThing	male pseudohermaphroditism due to defective lh molecule		DOVES_relaxed.owl
MONDO:0007257	biolink:NamedThing	candidiasis, familial, 1		DOVES_relaxed.owl
MONDO:0009534	biolink:NamedThing	chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation		DOVES_relaxed.owl
MONDO:0009536	biolink:NamedThing	chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation		DOVES_relaxed.owl
MONDO:0009540	biolink:NamedThing	chronic mucocutaneous candidiasis due to lymphokine deficiency		DOVES_relaxed.owl
MONDO:0009645	biolink:NamedThing	chronic mucocutaneous candidiasis due to monocyte chemotactic disorder		DOVES_relaxed.owl
MONDO:0011880	biolink:NamedThing	candidiasis, familial, 3		DOVES_relaxed.owl
MONDO:0013140	biolink:NamedThing	candidiasis, familial, 4	Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene.	DOVES_relaxed.owl
MONDO:0013500	biolink:NamedThing	immunodeficiency 51		DOVES_relaxed.owl
MONDO:0013503	biolink:NamedThing	candidiasis, familial, 6	Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene.	DOVES_relaxed.owl
MONDO:0013599	biolink:NamedThing	autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.	DOVES_relaxed.owl
MONDO:0014230	biolink:NamedThing	candidiasis, familial, 8	Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.	DOVES_relaxed.owl
MONDO:0014642	biolink:NamedThing	candidiasis, familial, 9	Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene.	DOVES_relaxed.owl
MONDO:0009054	biolink:NamedThing	autosomal recessive cutis laxa type 2, classic type		DOVES_relaxed.owl
MONDO:0013115	biolink:NamedThing	RIN2 syndrome	RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.	DOVES_relaxed.owl
MONDO:0013755	biolink:NamedThing	PYCR1-related de Barsy syndrome	Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.	DOVES_relaxed.owl
MONDO:0030337	biolink:NamedThing	cutis laxa, autosomal recessive, type 2E		DOVES_relaxed.owl
MONDO:0007265	biolink:NamedThing	cardiofaciocutaneous syndrome 1	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene.	DOVES_relaxed.owl
MONDO:0014112	biolink:NamedThing	cardiofaciocutaneous syndrome 2	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene.	DOVES_relaxed.owl
MONDO:0014113	biolink:NamedThing	cardiofaciocutaneous syndrome 3	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene.	DOVES_relaxed.owl
MONDO:0014114	biolink:NamedThing	cardiofaciocutaneous syndrome 4	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene.	DOVES_relaxed.owl
MONDO:0007266	biolink:NamedThing	hypertrophic cardiomyopathy 2	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.	DOVES_relaxed.owl
MONDO:0024573	biolink:NamedThing	familial hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.	DOVES_relaxed.owl
MONDO:0007267	biolink:NamedThing	hypertrophic cardiomyopathy 3	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.	DOVES_relaxed.owl
MONDO:0007268	biolink:NamedThing	hypertrophic cardiomyopathy 4	An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy.	DOVES_relaxed.owl
MONDO:0008647	biolink:NamedThing	hypertrophic cardiomyopathy 1	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.	DOVES_relaxed.owl
MONDO:0008918	biolink:NamedThing	carnitine-acylcarnitine translocase deficiency	Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.	DOVES_relaxed.owl
MONDO:0010946	biolink:NamedThing	hypertrophic cardiomyopathy 6	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene.	DOVES_relaxed.owl
MONDO:0011094	biolink:NamedThing	dilated cardiomyopathy 1C	A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2.	DOVES_relaxed.owl
MONDO:0011843	biolink:NamedThing	hypertrophic cardiomyopathy 25	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene.	DOVES_relaxed.owl
MONDO:0012111	biolink:NamedThing	hypertrophic cardiomyopathy 8	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.	DOVES_relaxed.owl
MONDO:0012112	biolink:NamedThing	hypertrophic cardiomyopathy 10	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.	DOVES_relaxed.owl
MONDO:0012799	biolink:NamedThing	hypertrophic cardiomyopathy 11	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.	DOVES_relaxed.owl
MONDO:0012804	biolink:NamedThing	hypertrophic cardiomyopathy 12	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.	DOVES_relaxed.owl
MONDO:0013195	biolink:NamedThing	hypertrophic cardiomyopathy 13	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.	DOVES_relaxed.owl
MONDO:0013197	biolink:NamedThing	hypertrophic cardiomyopathy 14	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.	DOVES_relaxed.owl
MONDO:0013200	biolink:NamedThing	hypertrophic cardiomyopathy 15	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.	DOVES_relaxed.owl
MONDO:0013369	biolink:NamedThing	hypertrophic cardiomyopathy 7	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.	DOVES_relaxed.owl
MONDO:0013412	biolink:NamedThing	hypertrophic cardiomyopathy 9	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.	DOVES_relaxed.owl
MONDO:0013455	biolink:NamedThing	hypertrophic cardiomyopathy 16	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.	DOVES_relaxed.owl
MONDO:0013474	biolink:NamedThing	hypertrophic cardiomyopathy 17	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene.	DOVES_relaxed.owl
MONDO:0013475	biolink:NamedThing	hypertrophic cardiomyopathy 18	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.	DOVES_relaxed.owl
MONDO:0013476	biolink:NamedThing	hypertrophic cardiomyopathy 19	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene.	DOVES_relaxed.owl
MONDO:0013477	biolink:NamedThing	hypertrophic cardiomyopathy 20	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.	DOVES_relaxed.owl
MONDO:0013852	biolink:NamedThing	hypertrophic cardiomyopathy 21	A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation.	DOVES_relaxed.owl
MONDO:0014883	biolink:NamedThing	hypertrophic cardiomyopathy 26	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene.	DOVES_relaxed.owl
MONDO:0020531	biolink:NamedThing	long chain acyl-CoA dehydrogenase deficiency	A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.	DOVES_relaxed.owl
MONDO:0030317	biolink:NamedThing	cardiomyopathy, familial hypertrophic, 28		DOVES_relaxed.owl
MONDO:0054838	biolink:NamedThing	cardiomyopathy, familial hypertrophic 27		DOVES_relaxed.owl
MONDO:0800347	biolink:NamedThing	cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction		DOVES_relaxed.owl
MONDO:0800371	biolink:NamedThing	cardiomyopathy, familial restrictive, 5		DOVES_relaxed.owl
MONDO:0015470	biolink:NamedThing	familial isolated dilated cardiomyopathy	Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.	DOVES_relaxed.owl
MONDO:0010542	biolink:NamedThing	dilated cardiomyopathy 3B	Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene.	DOVES_relaxed.owl
MONDO:0010951	biolink:NamedThing	dilated cardiomyopathy 1B	A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.	DOVES_relaxed.owl
MONDO:0011095	biolink:NamedThing	dilated cardiomyopathy 1D	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.	DOVES_relaxed.owl
MONDO:0011400	biolink:NamedThing	dilated cardiomyopathy 1G	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.	DOVES_relaxed.owl
MONDO:0011425	biolink:NamedThing	dilated cardiomyopathy 1H	A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22.	DOVES_relaxed.owl
MONDO:0011482	biolink:NamedThing	dilated cardiomyopathy 1I	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene.	DOVES_relaxed.owl
MONDO:0011567	biolink:NamedThing	dilated cardiomyopathy 1K	A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16.	DOVES_relaxed.owl
MONDO:0011702	biolink:NamedThing	dilated cardiomyopathy 1L	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene.	DOVES_relaxed.owl
MONDO:0011840	biolink:NamedThing	dilated cardiomyopathy 1M	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.	DOVES_relaxed.owl
MONDO:0012062	biolink:NamedThing	dilated cardiomyopathy 1O	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene.	DOVES_relaxed.owl
MONDO:0012362	biolink:NamedThing	dilated cardiomyopathy 1P	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.	DOVES_relaxed.owl
MONDO:0012364	biolink:NamedThing	dilated cardiomyopathy 1Q	A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1.	DOVES_relaxed.owl
MONDO:0012667	biolink:NamedThing	dilated cardiomyopathy 1W	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.	DOVES_relaxed.owl
MONDO:0012704	biolink:NamedThing	dilated cardiomyopathy 1X	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene.	DOVES_relaxed.owl
MONDO:0012744	biolink:NamedThing	dilated cardiomyopathy 1Y	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.	DOVES_relaxed.owl
MONDO:0012745	biolink:NamedThing	dilated cardiomyopathy 1Z	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.	DOVES_relaxed.owl
MONDO:0012746	biolink:NamedThing	dilated cardiomyopathy 2A	A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.	DOVES_relaxed.owl
MONDO:0012808	biolink:NamedThing	dilated cardiomyopathy 1AA	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.	DOVES_relaxed.owl
MONDO:0013030	biolink:NamedThing	dilated cardiomyopathy 1BB	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.	DOVES_relaxed.owl
MONDO:0013147	biolink:NamedThing	dilated cardiomyopathy 1CC	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.	DOVES_relaxed.owl
MONDO:0013168	biolink:NamedThing	dilated cardiomyopathy 1DD	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene.	DOVES_relaxed.owl
MONDO:0013198	biolink:NamedThing	dilated cardiomyopathy 1EE	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.	DOVES_relaxed.owl
MONDO:0013211	biolink:NamedThing	dilated cardiomyopathy 1FF	A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42.	DOVES_relaxed.owl
MONDO:0013261	biolink:NamedThing	dilated cardiomyopathy 1R	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.	DOVES_relaxed.owl
MONDO:0013262	biolink:NamedThing	dilated cardiomyopathy 1S	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.	DOVES_relaxed.owl
MONDO:0013339	biolink:NamedThing	dilated cardiomyopathy 1GG	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene.	DOVES_relaxed.owl
MONDO:0013371	biolink:NamedThing	dilated cardiomyopathy 1U	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene.	DOVES_relaxed.owl
MONDO:0013373	biolink:NamedThing	dilated cardiomyopathy 1V	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene.	DOVES_relaxed.owl
MONDO:0013479	biolink:NamedThing	dilated cardiomyopathy 1HH	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene.	DOVES_relaxed.owl
MONDO:0013848	biolink:NamedThing	dilated cardiomyopathy 2B	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene.	DOVES_relaxed.owl
MONDO:0014073	biolink:NamedThing	dilated cardiomyopathy 1II	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene.	DOVES_relaxed.owl
MONDO:0014095	biolink:NamedThing	dilated cardiomyopathy 1JJ	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene.	DOVES_relaxed.owl
MONDO:0014152	biolink:NamedThing	left ventricular noncompaction 8	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene.	DOVES_relaxed.owl
MONDO:0014163	biolink:NamedThing	left ventricular noncompaction 10	Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene.	DOVES_relaxed.owl
MONDO:0014396	biolink:NamedThing	dilated cardiomyopathy 1NN	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.	DOVES_relaxed.owl
MONDO:0007270	biolink:NamedThing	cardiomyopathy, familial restrictive, 1	Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.	DOVES_relaxed.owl
MONDO:0019150	biolink:NamedThing	familial isolated restrictive cardiomyopathy	Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.	DOVES_relaxed.owl
MONDO:0012306	biolink:NamedThing	cardiomyopathy, familial restrictive, 2		DOVES_relaxed.owl
MONDO:0012900	biolink:NamedThing	cardiomyopathy, familial restrictive, 3	Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.	DOVES_relaxed.owl
MONDO:0007272	biolink:NamedThing	hereditary hypercarotenemia and vitamin A deficiency	Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.	DOVES_relaxed.owl
MONDO:0017760	biolink:NamedThing	disorder of other vitamins and cofactors metabolism and transport		DOVES_relaxed.owl
MONDO:0010187	biolink:NamedThing	vitamin K-dependent clotting factors, combined deficiency of, type 1	Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.	DOVES_relaxed.owl
MONDO:0014013	biolink:NamedThing	maternal riboflavin deficiency		DOVES_relaxed.owl
MONDO:0023757	biolink:NamedThing	meralgia paresthetica	Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms.	DOVES_relaxed.owl
MONDO:0007278	biolink:NamedThing	cataract 32 multiple types	A cataract that has material basis in mutation in the region 14q22-q23.	DOVES_relaxed.owl
MONDO:0007280	biolink:NamedThing	cataract 8 multiple types	A cataract that has material basis in variation in the region 1pter-p36.13.	DOVES_relaxed.owl
MONDO:0007283	biolink:NamedThing	cataract 42	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene.	DOVES_relaxed.owl
MONDO:0007284	biolink:NamedThing	cataract 20 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene.	DOVES_relaxed.owl
MONDO:0007288	biolink:NamedThing	cataract 6 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene.	DOVES_relaxed.owl
MONDO:0007289	biolink:NamedThing	cataract 13 with adult I phenotype	A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.	DOVES_relaxed.owl
MONDO:0007290	biolink:NamedThing	cataract 5 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene.	DOVES_relaxed.owl
MONDO:0008925	biolink:NamedThing	cataract 46 juvenile-onset	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene.	DOVES_relaxed.owl
MONDO:0010544	biolink:NamedThing	cataract 40	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene.	DOVES_relaxed.owl
MONDO:0010948	biolink:NamedThing	cataract 10 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene.	DOVES_relaxed.owl
MONDO:0011162	biolink:NamedThing	cataract 14 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene.	DOVES_relaxed.owl
MONDO:0011430	biolink:NamedThing	pulverulent cataract	A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33.	DOVES_relaxed.owl
MONDO:0011547	biolink:NamedThing	cataract 31 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene.	DOVES_relaxed.owl
MONDO:0011591	biolink:NamedThing	cataract 26 multiple types	A cataract that has material basis in variation in the region 9q13-q22.	DOVES_relaxed.owl
MONDO:0012336	biolink:NamedThing	cataract 22 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene.	DOVES_relaxed.owl
MONDO:0012437	biolink:NamedThing	cataract 21 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene.	DOVES_relaxed.owl
MONDO:0012489	biolink:NamedThing	cataract 23	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene.	DOVES_relaxed.owl
MONDO:0012527	biolink:NamedThing	cataract 11 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene.	DOVES_relaxed.owl
MONDO:0012665	biolink:NamedThing	cataract 33	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene.	DOVES_relaxed.owl
MONDO:0012688	biolink:NamedThing	cataract 17 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene.	DOVES_relaxed.owl
MONDO:0013859	biolink:NamedThing	cataract 38	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene.	DOVES_relaxed.owl
MONDO:0014075	biolink:NamedThing	cataract 39 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene.	DOVES_relaxed.owl
MONDO:0014110	biolink:NamedThing	cataract 15 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene.	DOVES_relaxed.owl
MONDO:0014111	biolink:NamedThing	cataract 19 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene.	DOVES_relaxed.owl
MONDO:0014565	biolink:NamedThing	cataract 43	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene.	DOVES_relaxed.owl
MONDO:0014673	biolink:NamedThing	cataract 44	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene.	DOVES_relaxed.owl
MONDO:0014799	biolink:NamedThing	cataract 45	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene.	DOVES_relaxed.owl
MONDO:0020377	biolink:NamedThing	early-onset partial cataract		DOVES_relaxed.owl
MONDO:0021548	biolink:NamedThing	total early-onset cataract		DOVES_relaxed.owl
MONDO:0007279	biolink:NamedThing	cataract 7	A cataract that has material basis in variation in the region 17q24.	DOVES_relaxed.owl
MONDO:0020374	biolink:NamedThing	cerulean cataract	Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.	DOVES_relaxed.owl
MONDO:0013744	biolink:NamedThing	cataract 37	A cataract that has material basis in variation in the region 12q24.2-q24.3.	DOVES_relaxed.owl
MONDO:0007282	biolink:NamedThing	cataract 29	A cataract that has material basis in variation in the region 2pter-p24.	DOVES_relaxed.owl
MONDO:0020375	biolink:NamedThing	coralliform cataract		DOVES_relaxed.owl
MONDO:0007286	biolink:NamedThing	cataract 30	A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13.	DOVES_relaxed.owl
MONDO:0018610	biolink:NamedThing	early-onset posterior subcapsular cataract		DOVES_relaxed.owl
MONDO:0020373	biolink:NamedThing	early-onset anterior polar cataract		DOVES_relaxed.owl
MONDO:0020379	biolink:NamedThing	early-onset zonular cataract		DOVES_relaxed.owl
MONDO:0007287	biolink:NamedThing	cataract 41	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene.	DOVES_relaxed.owl
MONDO:0020376	biolink:NamedThing	early-onset nuclear cataract		DOVES_relaxed.owl
MONDO:0011808	biolink:NamedThing	cataract 27	A cataract that has material basis in mutation in the region 2p12.	DOVES_relaxed.owl
MONDO:0012260	biolink:NamedThing	cataract 35	A cataract that has material basis in variation in the region 19q13.	DOVES_relaxed.owl
MONDO:0021957	biolink:NamedThing	autosomal recessive nonsyndromic congenital nuclear cataract		DOVES_relaxed.owl
MONDO:0007293	biolink:NamedThing	leukocyte adhesion deficiency 1	Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.	DOVES_relaxed.owl
MONDO:0009953	biolink:NamedThing	leukocyte adhesion deficiency type II	Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.	DOVES_relaxed.owl
MONDO:0013016	biolink:NamedThing	leukocyte adhesion deficiency 3	Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder.	DOVES_relaxed.owl
MONDO:0007294	biolink:NamedThing	central core myopathy	An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.	DOVES_relaxed.owl
MONDO:0013890	biolink:NamedThing	congenital myopathy with internal nuclei and atypical cores	Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.	DOVES_relaxed.owl
MONDO:0013061	biolink:NamedThing	myofibrillar myopathy 6	Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.	DOVES_relaxed.owl
MONDO:0014922	biolink:NamedThing	myofibrillar myopathy 7	Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene.	DOVES_relaxed.owl
MONDO:0014993	biolink:NamedThing	myofibrillar myopathy 8	Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene.	DOVES_relaxed.owl
MONDO:0030927	biolink:NamedThing	myofibrillar myopathy 11		DOVES_relaxed.owl
MONDO:0033620	biolink:NamedThing	myofibrillar myopathy 10		DOVES_relaxed.owl
MONDO:0044647	biolink:NamedThing	kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome		DOVES_relaxed.owl
MONDO:0009711	biolink:NamedThing	congenital fiber-type disproportion myopathy	A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.	DOVES_relaxed.owl
MONDO:0009712	biolink:NamedThing	congenital multicore myopathy with external ophthalmoplegia	An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity.	DOVES_relaxed.owl
MONDO:0018528	biolink:NamedThing	congenital myopathy with myasthenic-like onset	Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.	DOVES_relaxed.owl
MONDO:0012240	biolink:NamedThing	nemaline myopathy 4	Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene.	DOVES_relaxed.owl
MONDO:0007296	biolink:NamedThing	spinocerebellar ataxia type 31	Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.	DOVES_relaxed.owl
MONDO:0010848	biolink:NamedThing	spinocerebellar ataxia type 5	Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.	DOVES_relaxed.owl
MONDO:0011464	biolink:NamedThing	spinocerebellar ataxia type 11	Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.	DOVES_relaxed.owl
MONDO:0012246	biolink:NamedThing	spinocerebellar ataxia type 26	Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.	DOVES_relaxed.owl
MONDO:0013241	biolink:NamedThing	spinocerebellar ataxia type 30	Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia.	DOVES_relaxed.owl
MONDO:0014417	biolink:NamedThing	spinocerebellar ataxia type 38	Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.	DOVES_relaxed.owl
MONDO:0014626	biolink:NamedThing	spinocerebellar ataxia type 41	Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.	DOVES_relaxed.owl
MONDO:0014776	biolink:NamedThing	spinocerebellar ataxia type 42		DOVES_relaxed.owl
MONDO:0033480	biolink:NamedThing	spinocerebellar ataxia 45		DOVES_relaxed.owl
MONDO:0007299	biolink:NamedThing	Sotos syndrome 1	Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene.	DOVES_relaxed.owl
MONDO:0013885	biolink:NamedThing	Malan overgrowth syndrome	Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.	DOVES_relaxed.owl
MONDO:0014951	biolink:NamedThing	Sotos syndrome 3	Any Sotos syndrome in which the cause of the disease is a mutation in the APC2 gene.	DOVES_relaxed.owl
MONDO:0800091	biolink:NamedThing	overgrowth or tall stature syndrome with skeletal involvement		DOVES_relaxed.owl
MONDO:0010515	biolink:NamedThing	Meester-Loeys syndrome		DOVES_relaxed.owl
MONDO:0012131	biolink:NamedThing	metaphyseal undermodeling, spondylar dysplasia, and overgrowth		DOVES_relaxed.owl
MONDO:0012212	biolink:NamedThing	Loeys-Dietz syndrome 1	A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.	DOVES_relaxed.owl
MONDO:0012427	biolink:NamedThing	Loeys-Dietz syndrome 2	A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.	DOVES_relaxed.owl
MONDO:0013426	biolink:NamedThing	aneurysm-osteoarthritis syndrome		DOVES_relaxed.owl
MONDO:0013897	biolink:NamedThing	Loeys-Dietz syndrome 4	Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.	DOVES_relaxed.owl
MONDO:0014262	biolink:NamedThing	Rienhoff syndrome	Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.	DOVES_relaxed.owl
MONDO:0014791	biolink:NamedThing	Luscan-Lumish syndrome		DOVES_relaxed.owl
MONDO:0034676	biolink:NamedThing	overgrowth syndrome with 2q37 translocation	A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.	DOVES_relaxed.owl
MONDO:0007300	biolink:NamedThing	cerebral sarcoma	A sarcoma involving a telencephalon.	DOVES_relaxed.owl
MONDO:0007306	biolink:NamedThing	Klippel-Feil syndrome 1, autosomal dominant	Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.	DOVES_relaxed.owl
MONDO:0007389	biolink:NamedThing	spondylocostal dysostosis 5	Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene.	DOVES_relaxed.owl
MONDO:0008958	biolink:NamedThing	Klippel-Feil syndrome 2, autosomal recessive	Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene.	DOVES_relaxed.owl
MONDO:0011946	biolink:NamedThing	diaphanospondylodysostosis	Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.	DOVES_relaxed.owl
MONDO:0012097	biolink:NamedThing	spondylocostal dysostosis 2, autosomal recessive		DOVES_relaxed.owl
MONDO:0012349	biolink:NamedThing	spondylocostal dysostosis 3, autosomal recessive	Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene.	DOVES_relaxed.owl
MONDO:0013228	biolink:NamedThing	spondylo-megaepiphyseal-metaphyseal dysplasia		DOVES_relaxed.owl
MONDO:0013366	biolink:NamedThing	spondylocostal dysostosis 4, autosomal recessive	Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene.	DOVES_relaxed.owl
MONDO:0013375	biolink:NamedThing	Klippel-Feil syndrome 3, autosomal dominant	Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene.	DOVES_relaxed.owl
MONDO:0014694	biolink:NamedThing	spondylocostal dysostosis 6, autosomal recessive	Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene.	DOVES_relaxed.owl
MONDO:0020692	biolink:NamedThing	spondylocostal dysostosis 1, autosomal recessive		DOVES_relaxed.owl
MONDO:0060554	biolink:NamedThing	vertebral, cardiac, renal, and limb defects syndrome 1		DOVES_relaxed.owl
MONDO:0060555	biolink:NamedThing	vertebral, cardiac, renal, and limb defects syndrome 2		DOVES_relaxed.owl
MONDO:0016520	biolink:NamedThing	isolated Klippel-Feil syndrome	Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.	DOVES_relaxed.owl
MONDO:0007307	biolink:NamedThing	Charcot-Marie-Tooth disease type 1B	A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.	DOVES_relaxed.owl
MONDO:0011909	biolink:NamedThing	Charcot-Marie-Tooth disease dominant intermediate D	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.	DOVES_relaxed.owl
MONDO:0011889	biolink:NamedThing	Charcot-Marie-Tooth disease type 2I	Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.	DOVES_relaxed.owl
MONDO:0011903	biolink:NamedThing	Charcot-Marie-Tooth disease type 2J	Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.	DOVES_relaxed.owl
MONDO:0019011	biolink:NamedThing	Charcot-Marie-Tooth disease type 1	Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.	DOVES_relaxed.owl
MONDO:0007309	biolink:NamedThing	Charcot-Marie-Tooth disease type 1A	Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications.	DOVES_relaxed.owl
MONDO:0007311	biolink:NamedThing	Charcot-Marie-Tooth disease type 1E	A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.	DOVES_relaxed.owl
MONDO:0010995	biolink:NamedThing	Charcot-Marie-Tooth disease type 1C	Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene.	DOVES_relaxed.owl
MONDO:0011890	biolink:NamedThing	Charcot-Marie-Tooth disease type 1D	A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.	DOVES_relaxed.owl
MONDO:0011902	biolink:NamedThing	Charcot-Marie-Tooth disease type 1F	A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..	DOVES_relaxed.owl
MONDO:0007308	biolink:NamedThing	Charcot-Marie-Tooth disease type 2A1	Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.	DOVES_relaxed.owl
MONDO:0018993	biolink:NamedThing	Charcot-Marie-Tooth disease type 2	A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.	DOVES_relaxed.owl
MONDO:0010949	biolink:NamedThing	Charcot-Marie-Tooth disease type 2B	Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.	DOVES_relaxed.owl
MONDO:0011091	biolink:NamedThing	Charcot-Marie-Tooth disease type 2D	Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.	DOVES_relaxed.owl
MONDO:0011569	biolink:NamedThing	Charcot-Marie-Tooth disease type 2B1	Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.	DOVES_relaxed.owl
MONDO:0011570	biolink:NamedThing	Charcot-Marie-Tooth disease type 2B2	Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.	DOVES_relaxed.owl
MONDO:0011687	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2F	Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.	DOVES_relaxed.owl
MONDO:0011894	biolink:NamedThing	Charcot-Marie-Tooth disease type 2E	Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.	DOVES_relaxed.owl
MONDO:0011901	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2H	Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.	DOVES_relaxed.owl
MONDO:0011916	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2K	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.	DOVES_relaxed.owl
MONDO:0012096	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2L	Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.	DOVES_relaxed.owl
MONDO:0012231	biolink:NamedThing	Charcot-Marie-Tooth disease type 2A2	Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.	DOVES_relaxed.owl
MONDO:0012411	biolink:NamedThing	giant axonal neuropathy 2	Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.	DOVES_relaxed.owl
MONDO:0013212	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2N	Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.	DOVES_relaxed.owl
MONDO:0013644	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2O	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene.	DOVES_relaxed.owl
MONDO:0013753	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2P	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene.	DOVES_relaxed.owl
MONDO:0014012	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2Q	Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.	DOVES_relaxed.owl
MONDO:0014208	biolink:NamedThing	Charcot-Marie-Tooth disease type 2R	Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene.	DOVES_relaxed.owl
MONDO:0014511	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2S	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.	DOVES_relaxed.owl
MONDO:0014566	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2U	Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.	DOVES_relaxed.owl
MONDO:0014665	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2V	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene.	DOVES_relaxed.owl
MONDO:0014711	biolink:NamedThing	autosomal dominant Charcot-Marie-Tooth disease type 2W	Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene.	DOVES_relaxed.owl
MONDO:0014726	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2X	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene.	DOVES_relaxed.owl
MONDO:0014735	biolink:NamedThing	Charcot-Marie-Tooth disease type 2Y	Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene.	DOVES_relaxed.owl
MONDO:0014736	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2Z	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene.	DOVES_relaxed.owl
MONDO:0014836	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2CC	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene.	DOVES_relaxed.owl
MONDO:0014866	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2T	A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.	DOVES_relaxed.owl
MONDO:0016431	biolink:NamedThing	autosomal dominant Charcot-Marie-Tooth disease type 2M	Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.	DOVES_relaxed.owl
MONDO:0016454	biolink:NamedThing	Charcot-Marie-Tooth disease type 2B5	A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.	DOVES_relaxed.owl
MONDO:0017940	biolink:NamedThing	autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.	DOVES_relaxed.owl
MONDO:0018567	biolink:NamedThing	autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation		DOVES_relaxed.owl
MONDO:0020558	biolink:NamedThing	autosomal dominant Charcot-Marie-Tooth disease type 2K	Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.	DOVES_relaxed.owl
MONDO:0032728	biolink:NamedThing	Charcot-Marie-Tooth disease, axonal, type 2EE		DOVES_relaxed.owl
MONDO:0044625	biolink:NamedThing	autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation		DOVES_relaxed.owl
MONDO:0044640	biolink:NamedThing	Charcot-Marie-Tooth disease type 2T		DOVES_relaxed.owl
MONDO:0044657	biolink:NamedThing	MME-related autosomal dominant Charcot Marie Tooth disease type 2		DOVES_relaxed.owl
MONDO:0016950	biolink:NamedThing	partial duplication of the short arm of chromosome 17		DOVES_relaxed.owl
MONDO:0016840	biolink:NamedThing	trisomy 17p	Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.	DOVES_relaxed.owl
MONDO:0007310	biolink:NamedThing	Charcot-Marie-Tooth disease, Guadalajara neuronal type		DOVES_relaxed.owl
MONDO:0007312	biolink:NamedThing	Charcot-Marie-Tooth disease with ptosis and parkinsonism		DOVES_relaxed.owl
MONDO:0007790	biolink:NamedThing	Charcot-Marie-Tooth disease type 3		DOVES_relaxed.owl
MONDO:0008451	biolink:NamedThing	neuronopathy, distal hereditary motor, type 1	An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration.	DOVES_relaxed.owl
MONDO:0014906	biolink:NamedThing	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;	An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A.	DOVES_relaxed.owl
MONDO:0018775	biolink:NamedThing	axonal hereditary motor and sensory neuropathy		DOVES_relaxed.owl
MONDO:0018776	biolink:NamedThing	demyelinating hereditary motor and sensory neuropathy		DOVES_relaxed.owl
MONDO:0018778	biolink:NamedThing	intermediate Charcot-Marie-Tooth disease		DOVES_relaxed.owl
MONDO:0018994	biolink:NamedThing	Charcot-Marie-Tooth disease type X	A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome.	DOVES_relaxed.owl
MONDO:0025622	biolink:NamedThing	Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1		DOVES_relaxed.owl
MONDO:0030433	biolink:NamedThing	Charcot-Marie-Tooth disease, axonal, type 2FF		DOVES_relaxed.owl
MONDO:0030458	biolink:NamedThing	Charcot-Marie-Tooth disease, axonal, Type 2HH		DOVES_relaxed.owl
MONDO:0030677	biolink:NamedThing	Charcot-Marie-Tooth disease, demyelinating, IIA 1I		DOVES_relaxed.owl
MONDO:0030689	biolink:NamedThing	Charcot-Marie-Tooth disease, demyelinating, IIA 1H		DOVES_relaxed.owl
MONDO:0031068	biolink:NamedThing	charcot-marie-tooth disease, axonal,IIa 2II		DOVES_relaxed.owl
MONDO:0007727	biolink:NamedThing	autosomal dominant familial periodic fever	Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.	DOVES_relaxed.owl
MONDO:0009849	biolink:NamedThing	hyperimmunoglobulinemia D with periodic fever	Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).	DOVES_relaxed.owl
MONDO:0010066	biolink:NamedThing	familial isolated congenital asplenia	Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.	DOVES_relaxed.owl
MONDO:0014313	biolink:NamedThing	autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity		DOVES_relaxed.owl
MONDO:0014715	biolink:NamedThing	primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.	DOVES_relaxed.owl
MONDO:0016168	biolink:NamedThing	cryopyrin-associated periodic syndrome	Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS).	DOVES_relaxed.owl
MONDO:0017925	biolink:NamedThing	T-cell immunodeficiency with epidermodysplasia verruciformis	T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.	DOVES_relaxed.owl
MONDO:0013944	biolink:NamedThing	autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation		DOVES_relaxed.owl
MONDO:0015137	biolink:NamedThing	periodic fever syndrome	Fevers of unknown etiology recurring over months or years.	DOVES_relaxed.owl
MONDO:0017954	biolink:NamedThing	pyogenic autoinflammatory syndrome		DOVES_relaxed.owl
MONDO:0017955	biolink:NamedThing	granulomatous autoinflammatory syndrome		DOVES_relaxed.owl
MONDO:0017958	biolink:NamedThing	magic syndrome		DOVES_relaxed.owl
MONDO:0018304	biolink:NamedThing	Schnitzler syndrome	A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.	DOVES_relaxed.owl
MONDO:0018540	biolink:NamedThing	PFAPA syndrome	An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.	DOVES_relaxed.owl
MONDO:0018782	biolink:NamedThing	type 1 interferonopathy		DOVES_relaxed.owl
MONDO:0019434	biolink:NamedThing	systemic-onset juvenile idiopathic arthritis	Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.	DOVES_relaxed.owl
MONDO:0035437	biolink:NamedThing	CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome	A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.	DOVES_relaxed.owl
MONDO:0800129	biolink:NamedThing	autoinflammatory disease, X-linked	An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy.	DOVES_relaxed.owl
MONDO:0800130	biolink:NamedThing	autoinflammatory syndrome with immunodeficiency	An autoinflammatory syndrome characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SL). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance.	DOVES_relaxed.owl
MONDO:0800137	biolink:NamedThing	early-onset pulmonary and cutaneous vasculitis	A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis.	DOVES_relaxed.owl
MONDO:0800148	biolink:NamedThing	autoinflammatory syndrome due to TBK1 deficiency	Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene.	DOVES_relaxed.owl
MONDO:0850053	biolink:NamedThing	F12-associated cold autoinflammatory syndrome		DOVES_relaxed.owl
MONDO:0850065	biolink:NamedThing	neonatal-onset severe multisystemic autoinflammatory disease with increased IL18		DOVES_relaxed.owl
MONDO:0850066	biolink:NamedThing	SAMD9L-associated autoinflammatory syndrome		DOVES_relaxed.owl
MONDO:0800089	biolink:NamedThing	primary bone dysplasia with disorganized development of skeletal components		DOVES_relaxed.owl
MONDO:0007489	biolink:NamedThing	dysplasia epiphysealis hemimelica	Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known.	DOVES_relaxed.owl
MONDO:0007585	biolink:NamedThing	exostoses, multiple, type 1	Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene.	DOVES_relaxed.owl
MONDO:0007653	biolink:NamedThing	genochondromatosis		DOVES_relaxed.owl
MONDO:0007979	biolink:NamedThing	metachondromatosis	Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.	DOVES_relaxed.owl
MONDO:0008150	biolink:NamedThing	osteoglophonic dwarfism	Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.	DOVES_relaxed.owl
MONDO:0009954	biolink:NamedThing	Ramon syndrome		DOVES_relaxed.owl
MONDO:0011806	biolink:NamedThing	osteofibrous dysplasia	A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases.	DOVES_relaxed.owl
MONDO:0013941	biolink:NamedThing	metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.	DOVES_relaxed.owl
MONDO:0020749	biolink:NamedThing	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1		DOVES_relaxed.owl
MONDO:0007316	biolink:NamedThing	Chiari malformation type I	Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.	DOVES_relaxed.owl
MONDO:0008816	biolink:NamedThing	Chiari malformation type II	Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.	DOVES_relaxed.owl
MONDO:0022715	biolink:NamedThing	Chiari malformation type 3		DOVES_relaxed.owl
MONDO:0022716	biolink:NamedThing	Chiari malformation type 4		DOVES_relaxed.owl
MONDO:0018075	biolink:NamedThing	neural tube defect	A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida.	DOVES_relaxed.owl
MONDO:0007537	biolink:NamedThing	lateral meningocele syndrome		DOVES_relaxed.owl
MONDO:0014314	biolink:NamedThing	sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome		DOVES_relaxed.owl
MONDO:0017059	biolink:NamedThing	neural tube closure defect	A disease that has its basis in the disruption of neural tube closure.	DOVES_relaxed.owl
MONDO:0017086	biolink:NamedThing	primary tethered cord syndrome	Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.	DOVES_relaxed.owl
MONDO:0017087	biolink:NamedThing	neurenteric cyst		DOVES_relaxed.owl
MONDO:0017088	biolink:NamedThing	isolated amyelia		DOVES_relaxed.owl
MONDO:0017607	biolink:NamedThing	caudal regression sequence	Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.	DOVES_relaxed.owl
MONDO:0018953	biolink:NamedThing	parietal foramina	Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.	DOVES_relaxed.owl
MONDO:0015214	biolink:NamedThing	syndromic visceral malformation		DOVES_relaxed.owl
MONDO:0016577	biolink:NamedThing	biliary atresia with splenic malformation syndrome	Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.	DOVES_relaxed.owl
MONDO:0017400	biolink:NamedThing	hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.	DOVES_relaxed.owl
MONDO:0007320	biolink:NamedThing	chondrocalcinosis due to apatite crystal deposition		DOVES_relaxed.owl
MONDO:0010917	biolink:NamedThing	chondrocalcinosis 1		DOVES_relaxed.owl
MONDO:0800096	biolink:NamedThing	abnormal mineralization disorder	A skeletal dysplasia where osteoid becomes calcified.	DOVES_relaxed.owl
MONDO:0007791	biolink:NamedThing	familial hypocalciuric hypercalcemia 1	Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene.	DOVES_relaxed.owl
MONDO:0009430	biolink:NamedThing	hypophosphatemic rickets, autosomal recessive, 1	Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene.	DOVES_relaxed.owl
MONDO:0009431	biolink:NamedThing	hereditary hypophosphatemic rickets with hypercalciuria	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.	DOVES_relaxed.owl
MONDO:0010186	biolink:NamedThing	vitamin D-dependent rickets, type 2A	Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.	DOVES_relaxed.owl
MONDO:0010619	biolink:NamedThing	X-linked dominant hypophosphatemic rickets	X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.	DOVES_relaxed.owl
MONDO:0010931	biolink:NamedThing	vitamin D-dependent rickets, type 2B	Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.	DOVES_relaxed.owl
MONDO:0013219	biolink:NamedThing	hypophosphatemic rickets, autosomal recessive, 2	Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene.	DOVES_relaxed.owl
MONDO:0020723	biolink:NamedThing	vitamin D-dependent rickets, type 1A		DOVES_relaxed.owl
MONDO:0032591	biolink:NamedThing	hyperparathyroidism, transient neonatal		DOVES_relaxed.owl
MONDO:0015775	biolink:NamedThing	non-rhizomelic chondrodysplasia punctata	Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.	DOVES_relaxed.owl
MONDO:0008973	biolink:NamedThing	chondrodysplasia punctata, Toriello type	Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.	DOVES_relaxed.owl
MONDO:0010556	biolink:NamedThing	X-linked chondrodysplasia punctata	X-linked form of chondrodysplasia punctata.	DOVES_relaxed.owl
MONDO:0020603	biolink:NamedThing	X-linked chondrodysplasia punctata 2	A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.	DOVES_relaxed.owl
MONDO:0007322	biolink:NamedThing	chondrodysplasia punctata, tibial-metacarpal type		DOVES_relaxed.owl
MONDO:0011238	biolink:NamedThing	chondrodysplasia punctata, brachytelephalangic, autosomal		DOVES_relaxed.owl
MONDO:0007327	biolink:NamedThing	chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase		DOVES_relaxed.owl
MONDO:0018637	biolink:NamedThing	familial chylomicronemia syndrome		DOVES_relaxed.owl
MONDO:0007332	biolink:NamedThing	split-hand/foot malformation with long bone deficiency 1		DOVES_relaxed.owl
MONDO:0012537	biolink:NamedThing	split-hand/foot malformation with long bone deficiency 2		DOVES_relaxed.owl
MONDO:0007333	biolink:NamedThing	van der Woude syndrome 1	Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene.	DOVES_relaxed.owl
MONDO:0011712	biolink:NamedThing	van der Woude syndrome 2	Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene.	DOVES_relaxed.owl
MONDO:0007336	biolink:NamedThing	isolated cleft palate	A cleft palate that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0007338	biolink:NamedThing	cleft soft palate	Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.	DOVES_relaxed.owl
MONDO:0008637	biolink:NamedThing	bifid uvula	Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.	DOVES_relaxed.owl
MONDO:0015092	biolink:NamedThing	cleft hard palate		DOVES_relaxed.owl
MONDO:0015479	biolink:NamedThing	submucosal cleft palate		DOVES_relaxed.owl
MONDO:0020463	biolink:NamedThing	isolated congenital ectropion	A congenital ectropion that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0020464	biolink:NamedThing	euryblepharon	Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.	DOVES_relaxed.owl
MONDO:0007490	biolink:NamedThing	carpotarsal osteochondromatosis	Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.	DOVES_relaxed.owl
MONDO:0007971	biolink:NamedThing	delayed membranous cranial ossification	Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.	DOVES_relaxed.owl
MONDO:0008198	biolink:NamedThing	parietal foramina with cleidocranial dysplasia	Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.	DOVES_relaxed.owl
MONDO:0012055	biolink:NamedThing	Larsen-like osseous dysplasia-short stature syndrome	Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.	DOVES_relaxed.owl
MONDO:0014704	biolink:NamedThing	skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome		DOVES_relaxed.owl
MONDO:0014821	biolink:NamedThing	complex lethal osteochondrodysplasia		DOVES_relaxed.owl
MONDO:0015985	biolink:NamedThing	bone dysplasia, Azouz type	Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet.	DOVES_relaxed.owl
MONDO:0016763	biolink:NamedThing	spondylometaphyseal dysplasia	Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.	DOVES_relaxed.owl
MONDO:0018239	biolink:NamedThing	aggrecan-related bone disorder		DOVES_relaxed.owl
MONDO:0019412	biolink:NamedThing	dysspondyloenchondromatosis	Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.	DOVES_relaxed.owl
MONDO:0019689	biolink:NamedThing	perlecan-related bone disorder		DOVES_relaxed.owl
MONDO:0019691	biolink:NamedThing	short rib dysplasia		DOVES_relaxed.owl
MONDO:0019692	biolink:NamedThing	multiple epiphyseal dysplasia and pseudoachondroplasia		DOVES_relaxed.owl
MONDO:0019693	biolink:NamedThing	multiple metaphyseal dysplasia		DOVES_relaxed.owl
MONDO:0019694	biolink:NamedThing	spondylodysplastic dysplasia		DOVES_relaxed.owl
MONDO:0019697	biolink:NamedThing	mesomelic and rhizo-mesomelic dysplasia		DOVES_relaxed.owl
MONDO:0019699	biolink:NamedThing	slender bone dysplasia		DOVES_relaxed.owl
MONDO:0019701	biolink:NamedThing	chondrodysplasia punctata	A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.	DOVES_relaxed.owl
MONDO:0019718	biolink:NamedThing	lethal chondrodysplasia		DOVES_relaxed.owl
MONDO:0020474	biolink:NamedThing	cheirospondyloenchondromatosis	Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.	DOVES_relaxed.owl
MONDO:0021762	biolink:NamedThing	acrocoxomesomelic dysplasia	A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine.	DOVES_relaxed.owl
MONDO:0022586	biolink:NamedThing	bone dysplasia Moore type		DOVES_relaxed.owl
MONDO:0044675	biolink:NamedThing	LRP5-related primary osteoporosis		DOVES_relaxed.owl
MONDO:0800085	biolink:NamedThing	dysostosis with predominant craniofacial involvement		DOVES_relaxed.owl
MONDO:0800086	biolink:NamedThing	primary bone dysplasia with multiple joint dislocations		DOVES_relaxed.owl
MONDO:0800087	biolink:NamedThing	type 11 collagen-related bone disorder		DOVES_relaxed.owl
MONDO:0800088	biolink:NamedThing	lysosomal storage disease with skeletal involvement		DOVES_relaxed.owl
MONDO:0800092	biolink:NamedThing	genetic inflammatory or rheumatoid-like osteoarthropathy		DOVES_relaxed.owl
MONDO:0800095	biolink:NamedThing	syndrome with synostosis or other joint formation defect		DOVES_relaxed.owl
MONDO:0800204	biolink:NamedThing	calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia		DOVES_relaxed.owl
MONDO:0800307	biolink:NamedThing	de la Chapelle dysplasia		DOVES_relaxed.owl
MONDO:0007766	biolink:NamedThing	Morgagni-Stewart-Morel syndrome	Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant.	DOVES_relaxed.owl
MONDO:0009034	biolink:NamedThing	craniofacial dyssynostosis	Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus.	DOVES_relaxed.owl
MONDO:0012634	biolink:NamedThing	craniofacial dysplasia - osteopenia syndrome		DOVES_relaxed.owl
MONDO:0019795	biolink:NamedThing	acalvaria	Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.	DOVES_relaxed.owl
MONDO:0007341	biolink:NamedThing	cleidorhizomelic syndrome	Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.	DOVES_relaxed.owl
MONDO:0007977	biolink:NamedThing	mesomelic dysplasia, Kantaputra type	Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.	DOVES_relaxed.owl
MONDO:0008098	biolink:NamedThing	mesomelic dwarfism, Nievergelt type		DOVES_relaxed.owl
MONDO:0008618	biolink:NamedThing	mesomelic dwarfism, Reinhardt-Pfeiffer type	Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.	DOVES_relaxed.owl
MONDO:0008620	biolink:NamedThing	upper limb mesomelic dysplasia	This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.	DOVES_relaxed.owl
MONDO:0009588	biolink:NamedThing	Langer mesomelic dysplasia	Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.	DOVES_relaxed.owl
MONDO:0009996	biolink:NamedThing	rhizomelic syndrome, Urbach type	Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.	DOVES_relaxed.owl
MONDO:0010367	biolink:NamedThing	SHOX-related short stature	SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.	DOVES_relaxed.owl
MONDO:0011079	biolink:NamedThing	rhizomelic dysplasia, Patterson-Lowry type	Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.	DOVES_relaxed.owl
MONDO:0011530	biolink:NamedThing	mesomelic dysplasia, Savarirayan type	Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.	DOVES_relaxed.owl
MONDO:0014380	biolink:NamedThing	colobomatous microphthalmia-rhizomelic dysplasia syndrome	Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.	DOVES_relaxed.owl
MONDO:0017136	biolink:NamedThing	omodysplasia	Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.	DOVES_relaxed.owl
MONDO:0018601	biolink:NamedThing	autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome		DOVES_relaxed.owl
MONDO:0013329	biolink:NamedThing	familial clubfoot due to 17q23.1q23.2 microduplication	17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.	DOVES_relaxed.owl
MONDO:0007343	biolink:NamedThing	isolated congenital digital clubbing	Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.	DOVES_relaxed.owl
MONDO:0008509	biolink:NamedThing	distal symphalangism	Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.	DOVES_relaxed.owl
MONDO:0017467	biolink:NamedThing	tibio-fibular synostosis	Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.	DOVES_relaxed.owl
MONDO:0017983	biolink:NamedThing	humero-radio-ulnar synostosis	Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.	DOVES_relaxed.owl
MONDO:0017985	biolink:NamedThing	congenital radioulnar synostosis	Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.	DOVES_relaxed.owl
MONDO:0018154	biolink:NamedThing	Madelung deformity	Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.	DOVES_relaxed.owl
MONDO:0019782	biolink:NamedThing	humero-ulnar synostosis		DOVES_relaxed.owl
MONDO:0007867	biolink:NamedThing	nonsyndromic congenital nail disorder 2		DOVES_relaxed.owl
MONDO:0007900	biolink:NamedThing	nonsyndromic congenital nail disorder 3	Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.	DOVES_relaxed.owl
MONDO:0008060	biolink:NamedThing	nonsyndromic congenital nail disorder 1	Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails.	DOVES_relaxed.owl
MONDO:0008125	biolink:NamedThing	nonsyndromic congenital nail disorder 5		DOVES_relaxed.owl
MONDO:0011595	biolink:NamedThing	nonsyndromic congenital nail disorder 7		DOVES_relaxed.owl
MONDO:0011852	biolink:NamedThing	nonsyndromic congenital nail disorder 8	Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene.	DOVES_relaxed.owl
MONDO:0016557	biolink:NamedThing	leukonychia totalis	Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.	DOVES_relaxed.owl
MONDO:0007349	biolink:NamedThing	familial cold autoinflammatory syndrome 1	Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene.	DOVES_relaxed.owl
MONDO:0018768	biolink:NamedThing	familial cold autoinflammatory syndrome	Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.	DOVES_relaxed.owl
MONDO:0012724	biolink:NamedThing	familial cold autoinflammatory syndrome 2	An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.	DOVES_relaxed.owl
MONDO:0013766	biolink:NamedThing	familial cold autoinflammatory syndrome 3	A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.	DOVES_relaxed.owl
MONDO:0014498	biolink:NamedThing	familial cold autoinflammatory syndrome 4	Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene.	DOVES_relaxed.owl
MONDO:0008927	biolink:NamedThing	colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.	DOVES_relaxed.owl
MONDO:0012687	biolink:NamedThing	familial cavitary optic disc anomaly		DOVES_relaxed.owl
MONDO:0012739	biolink:NamedThing	microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome	This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.	DOVES_relaxed.owl
MONDO:0015567	biolink:NamedThing	cataract-glaucoma syndrome	Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.	DOVES_relaxed.owl
MONDO:0016509	biolink:NamedThing	microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome		DOVES_relaxed.owl
MONDO:0018169	biolink:NamedThing	morning glory syndrome	Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies.	DOVES_relaxed.owl
MONDO:0020146	biolink:NamedThing	major induction processes eye anomaly		DOVES_relaxed.owl
MONDO:0007360	biolink:NamedThing	branchiootic syndrome 2		DOVES_relaxed.owl
MONDO:0011258	biolink:NamedThing	branchiootic syndrome 1	Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene.	DOVES_relaxed.owl
MONDO:0012025	biolink:NamedThing	branchiootic syndrome 3	Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene.	DOVES_relaxed.owl
MONDO:0007361	biolink:NamedThing	C1 inhibitor deficiency		DOVES_relaxed.owl
MONDO:0009005	biolink:NamedThing	complement component C1r/C1s deficiency	Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.	DOVES_relaxed.owl
MONDO:0009006	biolink:NamedThing	complement component 2 deficiency	Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.	DOVES_relaxed.owl
MONDO:0012295	biolink:NamedThing	complement component 5 deficiency	A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.	DOVES_relaxed.owl
MONDO:0012412	biolink:NamedThing	complement component 7 deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene.	DOVES_relaxed.owl
MONDO:0012908	biolink:NamedThing	complement component 6 deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene.	DOVES_relaxed.owl
MONDO:0013417	biolink:NamedThing	complement component 3 deficiency	A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease.	DOVES_relaxed.owl
MONDO:0013419	biolink:NamedThing	complement component C1s deficiency	A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.	DOVES_relaxed.owl
MONDO:0013421	biolink:NamedThing	type II complement component 8 deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene.	DOVES_relaxed.owl
MONDO:0013422	biolink:NamedThing	type I complement component 8 deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.	DOVES_relaxed.owl
MONDO:0013445	biolink:NamedThing	complement component 9 deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene.	DOVES_relaxed.owl
MONDO:0013720	biolink:NamedThing	complement component 4b deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene.	DOVES_relaxed.owl
MONDO:0013721	biolink:NamedThing	complement component 4a deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene.	DOVES_relaxed.owl
MONDO:0033946	biolink:NamedThing	hereditary angioedema with C1Inh deficiency	Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.	DOVES_relaxed.owl
MONDO:0010443	biolink:NamedThing	macular degeneration, X-linked atrophic		DOVES_relaxed.owl
MONDO:0010905	biolink:NamedThing	cone-rod dystrophy 1		DOVES_relaxed.owl
MONDO:0010969	biolink:NamedThing	cone-rod dystrophy 5	Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene.	DOVES_relaxed.owl
MONDO:0011143	biolink:NamedThing	cone-rod dystrophy 6	Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.	DOVES_relaxed.owl
MONDO:0011193	biolink:NamedThing	cone dystrophy 3	Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene.	DOVES_relaxed.owl
MONDO:0011355	biolink:NamedThing	cone-rod dystrophy 7	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene.	DOVES_relaxed.owl
MONDO:0011395	biolink:NamedThing	cone-rod dystrophy 3	Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene.	DOVES_relaxed.owl
MONDO:0011458	biolink:NamedThing	Leber congenital amaurosis 4	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene.	DOVES_relaxed.owl
MONDO:0011564	biolink:NamedThing	cone-rod dystrophy 8	A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.	DOVES_relaxed.owl
MONDO:0011839	biolink:NamedThing	Newfoundland cone-rod dystrophy	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene.	DOVES_relaxed.owl
MONDO:0011987	biolink:NamedThing	cone-rod dystrophy 13	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene.	DOVES_relaxed.owl
MONDO:0012464	biolink:NamedThing	cone-rod dystrophy 10	Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene.	DOVES_relaxed.owl
MONDO:0012483	biolink:NamedThing	cone-rod dystrophy 11	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene.	DOVES_relaxed.owl
MONDO:0012507	biolink:NamedThing	retinal cone dystrophy 4	Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene.	DOVES_relaxed.owl
MONDO:0012983	biolink:NamedThing	cone-rod dystrophy 12	Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene.	DOVES_relaxed.owl
MONDO:0013002	biolink:NamedThing	cone-rod dystrophy 9	Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene.	DOVES_relaxed.owl
MONDO:0014068	biolink:NamedThing	cone-rod dystrophy 17	A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26.	DOVES_relaxed.owl
MONDO:0014153	biolink:NamedThing	cone-rod dystrophy 18	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene.	DOVES_relaxed.owl
MONDO:0014372	biolink:NamedThing	cone-rod dystrophy 19	Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene.	DOVES_relaxed.owl
MONDO:0014427	biolink:NamedThing	cone-rod dystrophy 20	Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene.	DOVES_relaxed.owl
MONDO:0014669	biolink:NamedThing	cone-rod dystrophy 21	Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene.	DOVES_relaxed.owl
MONDO:0021155	biolink:NamedThing	X-linked cone-rod dystrophy	X-linked form of cone-rod dystrophy.	DOVES_relaxed.owl
MONDO:0030440	biolink:NamedThing	cone-rod dystrophy 22		DOVES_relaxed.owl
MONDO:0800326	biolink:NamedThing	cone-rod dystrophy 14		DOVES_relaxed.owl
MONDO:0043123	biolink:NamedThing	massa casaer ceulemans syndrome		DOVES_relaxed.owl
MONDO:0007365	biolink:NamedThing	seizures, benign familial neonatal, 1	Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene.	DOVES_relaxed.owl
MONDO:0007366	biolink:NamedThing	seizures, benign familial neonatal, 2	Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene.	DOVES_relaxed.owl
MONDO:0010021	biolink:NamedThing	seizures, benign familial neonatal, autosomal recessive		DOVES_relaxed.owl
MONDO:0011990	biolink:NamedThing	seizures, benign familial neonatal, 3		DOVES_relaxed.owl
MONDO:0007367	biolink:NamedThing	febrile seizures, familial, 1		DOVES_relaxed.owl
MONDO:0011231	biolink:NamedThing	febrile seizures, familial, 2		DOVES_relaxed.owl
MONDO:0011443	biolink:NamedThing	febrile seizures, familial, 4	Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene.	DOVES_relaxed.owl
MONDO:0011461	biolink:NamedThing	generalized epilepsy with febrile seizures plus, type 2	Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene.	DOVES_relaxed.owl
MONDO:0011891	biolink:NamedThing	febrile seizures, familial, 8	A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype.	DOVES_relaxed.owl
MONDO:0012224	biolink:NamedThing	febrile seizures, familial, 6		DOVES_relaxed.owl
MONDO:0012226	biolink:NamedThing	febrile seizures, familial, 5		DOVES_relaxed.owl
MONDO:0012681	biolink:NamedThing	febrile seizures, familial, 7		DOVES_relaxed.owl
MONDO:0012707	biolink:NamedThing	familial febrile seizures 9		DOVES_relaxed.owl
MONDO:0012972	biolink:NamedThing	febrile seizures, familial, 10		DOVES_relaxed.owl
MONDO:0800329	biolink:NamedThing	febrile seizures, familial, 3a		DOVES_relaxed.owl
MONDO:0800354	biolink:NamedThing	febrile seizures, familial, 3b		DOVES_relaxed.owl
MONDO:0007368	biolink:NamedThing	familial benign copper deficiency	Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.	DOVES_relaxed.owl
MONDO:0017762	biolink:NamedThing	disorder of copper metabolism	An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.	DOVES_relaxed.owl
MONDO:0030048	biolink:NamedThing	harderoporphyria		DOVES_relaxed.owl
MONDO:0007372	biolink:NamedThing	cornea plana 1, autosomal dominant		DOVES_relaxed.owl
MONDO:0018888	biolink:NamedThing	congenital cornea plana		DOVES_relaxed.owl
MONDO:0009014	biolink:NamedThing	cornea plana 2	Any cornea plana in which the cause of the disease is a mutation in the KERA gene.	DOVES_relaxed.owl
MONDO:0008777	biolink:NamedThing	gelatinous drop-like corneal dystrophy	Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.	DOVES_relaxed.owl
MONDO:0010425	biolink:NamedThing	Lisch epithelial corneal dystrophy	Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.	DOVES_relaxed.owl
MONDO:0013026	biolink:NamedThing	subepithelial mucinous corneal dystrophy	Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.	DOVES_relaxed.owl
MONDO:0007381	biolink:NamedThing	epithelial recurrent erosion dystrophy	Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.	DOVES_relaxed.owl
MONDO:0017391	biolink:NamedThing	Grayson-Wilbrandt corneal dystrophy	Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.	DOVES_relaxed.owl
MONDO:0020363	biolink:NamedThing	honey-droplet corneal dystrophy		DOVES_relaxed.owl
MONDO:0007378	biolink:NamedThing	posterior polymorphous corneal dystrophy 1	A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.	DOVES_relaxed.owl
MONDO:0012199	biolink:NamedThing	posterior polymorphous corneal dystrophy 2	Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.	DOVES_relaxed.owl
MONDO:0012200	biolink:NamedThing	posterior polymorphous corneal dystrophy 3	Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.	DOVES_relaxed.owl
MONDO:0054832	biolink:NamedThing	corneal dystrophy, posterior polymorphous, 4		DOVES_relaxed.owl
MONDO:0010889	biolink:NamedThing	arterial dissection-lentiginosis syndrome	Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).	DOVES_relaxed.owl
MONDO:0007399	biolink:NamedThing	TWIST1-related craniosynostosis	Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene.	DOVES_relaxed.owl
MONDO:0014705	biolink:NamedThing	craniosynostosis 6	Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene.	DOVES_relaxed.owl
MONDO:0015704	biolink:NamedThing	familial scaphocephaly syndrome		DOVES_relaxed.owl
MONDO:0012307	biolink:NamedThing	familial scaphocephaly syndrome, McGillivray type	Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.	DOVES_relaxed.owl
MONDO:0009075	biolink:NamedThing	Dandy-Walker malformation-postaxial polydactyly syndrome	Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.	DOVES_relaxed.owl
MONDO:0009966	biolink:NamedThing	NPHP3-related Meckel-like syndrome		DOVES_relaxed.owl
MONDO:0010337	biolink:NamedThing	X-linked intellectual disability-cerebellar hypoplasia syndrome	X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.	DOVES_relaxed.owl
MONDO:0010417	biolink:NamedThing	syndromic X-linked intellectual disability Najm type	Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.	DOVES_relaxed.owl
MONDO:0010464	biolink:NamedThing	X-linked cerebral-cerebellar-coloboma syndrome syndrome	A rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.	DOVES_relaxed.owl
MONDO:0011157	biolink:NamedThing	Gomez-Lopez-Hernandez syndrome	A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.	DOVES_relaxed.owl
MONDO:0014419	biolink:NamedThing	ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.	DOVES_relaxed.owl
MONDO:0015219	biolink:NamedThing	non-syndromic central nervous system malformation	A central nervous system malformation that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0016161	biolink:NamedThing	cerebral gigantism-jaw cysts syndrome	Cerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome.	DOVES_relaxed.owl
MONDO:0016299	biolink:NamedThing	holoprosencephaly-caudal dysgenesis syndrome	A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).	DOVES_relaxed.owl
MONDO:0018045	biolink:NamedThing	Hoyeraal-Hreidarsson syndrome	Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.	DOVES_relaxed.owl
MONDO:0018763	biolink:NamedThing	tubulinopathy-associated dysgyria		DOVES_relaxed.owl
MONDO:0020132	biolink:NamedThing	cranial nerve and nuclear aplasia		DOVES_relaxed.owl
MONDO:0020133	biolink:NamedThing	posterior fossa malformation		DOVES_relaxed.owl
MONDO:0100283	biolink:NamedThing	overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism.	DOVES_relaxed.owl
MONDO:0007656	biolink:NamedThing	Gerstmann-Straussler-Scheinker syndrome	A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.	DOVES_relaxed.owl
MONDO:0010808	biolink:NamedThing	fatal familial insomnia	Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.	DOVES_relaxed.owl
MONDO:0011703	biolink:NamedThing	spongiform encephalopathy with neuropsychiatric features		DOVES_relaxed.owl
MONDO:0017233	biolink:NamedThing	familial Alzheimer-like prion disease		DOVES_relaxed.owl
MONDO:0018339	biolink:NamedThing	PrP systemic amyloidosis	Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid.	DOVES_relaxed.owl
MONDO:0016887	biolink:NamedThing	partial deletion of the short arm of chromosome 5		DOVES_relaxed.owl
MONDO:0009567	biolink:NamedThing	Marinesco-Sjogren syndrome	Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.	DOVES_relaxed.owl
MONDO:0013481	biolink:NamedThing	chromosome 13q14 deletion syndrome	Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.	DOVES_relaxed.owl
MONDO:0015726	biolink:NamedThing	distal trisomy 14q		DOVES_relaxed.owl
MONDO:0008709	biolink:NamedThing	acrocephalopolydactyly	Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.	DOVES_relaxed.owl
MONDO:0009038	biolink:NamedThing	craniosynostosis-fibular aplasia syndrome	Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.	DOVES_relaxed.owl
MONDO:0009042	biolink:NamedThing	craniotelencephalic dysplasia	Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.	DOVES_relaxed.owl
MONDO:0010090	biolink:NamedThing	Summitt syndrome	Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.	DOVES_relaxed.owl
MONDO:0010929	biolink:NamedThing	craniosynostosis 4	Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene.	DOVES_relaxed.owl
MONDO:0011059	biolink:NamedThing	holoprosencephaly-craniosynostosis syndrome	Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.	DOVES_relaxed.owl
MONDO:0011065	biolink:NamedThing	Hunter-McAlpine craniosynostosis	Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).	DOVES_relaxed.owl
MONDO:0011253	biolink:NamedThing	craniomicromelic syndrome	Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly.	DOVES_relaxed.owl
MONDO:0011274	biolink:NamedThing	Muenke syndrome	Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.	DOVES_relaxed.owl
MONDO:0011287	biolink:NamedThing	craniosynostosis-anal anomalies-porokeratosis syndrome	Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).	DOVES_relaxed.owl
MONDO:0011481	biolink:NamedThing	craniosynostosis 2	A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.	DOVES_relaxed.owl
MONDO:0011788	biolink:NamedThing	cloverleaf skull-multiple congenital anomalies syndrome	This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	DOVES_relaxed.owl
MONDO:0012035	biolink:NamedThing	craniosynostosis-intracranial calcifications syndrome	Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0013615	biolink:NamedThing	craniosynostosis and dental anomalies		DOVES_relaxed.owl
MONDO:0013740	biolink:NamedThing	lethal occipital encephalocele-skeletal dysplasia syndrome	Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.	DOVES_relaxed.owl
MONDO:0014128	biolink:NamedThing	TCF12-related craniosynostosis	Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.	DOVES_relaxed.owl
MONDO:0015086	biolink:NamedThing	cloverleaf skull-asphyxiating thoracic dysplasia syndrome		DOVES_relaxed.owl
MONDO:0015467	biolink:NamedThing	craniosynostosis, Philadelphia type	Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.	DOVES_relaxed.owl
MONDO:0015468	biolink:NamedThing	craniosynostosis-cataract syndrome		DOVES_relaxed.owl
MONDO:0015751	biolink:NamedThing	craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome	Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.	DOVES_relaxed.owl
MONDO:0015800	biolink:NamedThing	osteosclerosis-developmental delay-craniosynostosis syndrome	This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.	DOVES_relaxed.owl
MONDO:0016291	biolink:NamedThing	craniosynostosis, Herrmann-Opitz type	Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.	DOVES_relaxed.owl
MONDO:0018064	biolink:NamedThing	trigonocephaly-broad thumbs syndrome	Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.	DOVES_relaxed.owl
MONDO:0022904	biolink:NamedThing	cryofibrinogenemia		DOVES_relaxed.owl
MONDO:0015491	biolink:NamedThing	immune complex mediated vasculitis		DOVES_relaxed.owl
MONDO:0019509	biolink:NamedThing	cutaneous leukocytoclastic angiitis	Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms.	DOVES_relaxed.owl
MONDO:0019526	biolink:NamedThing	erythema elevatum diutinum	Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.	DOVES_relaxed.owl
MONDO:0007411	biolink:NamedThing	cutis laxa, autosomal dominant 1	Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene.	DOVES_relaxed.owl
MONDO:0013751	biolink:NamedThing	cutis laxa, autosomal dominant 2	Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.	DOVES_relaxed.owl
MONDO:0019156	biolink:NamedThing	angioosteohypotrophic syndrome	Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.	DOVES_relaxed.owl
MONDO:0007415	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 1	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.	DOVES_relaxed.owl
MONDO:0020811	biolink:NamedThing	mitochondrial complex III deficiency, nuclear type		DOVES_relaxed.owl
MONDO:0014063	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 2	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.	DOVES_relaxed.owl
MONDO:0014064	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 3	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene.	DOVES_relaxed.owl
MONDO:0014065	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 4	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene.	DOVES_relaxed.owl
MONDO:0014066	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 5	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene.	DOVES_relaxed.owl
MONDO:0014194	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 6	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene.	DOVES_relaxed.owl
MONDO:0014356	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 7	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.	DOVES_relaxed.owl
MONDO:0014364	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 8	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene.	DOVES_relaxed.owl
MONDO:0014496	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 9	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene.	DOVES_relaxed.owl
MONDO:0032909	biolink:NamedThing	mitochondrial complex 3 deficiency, nuclear type 10		DOVES_relaxed.owl
MONDO:0013898	biolink:NamedThing	karyomegalic interstitial nephritis	Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.	DOVES_relaxed.owl
MONDO:0009079	biolink:NamedThing	DOORS syndrome	DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.	DOVES_relaxed.owl
MONDO:0007422	biolink:NamedThing	keratoderma hereditarium mutilans		DOVES_relaxed.owl
MONDO:0011169	biolink:NamedThing	keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.	DOVES_relaxed.owl
MONDO:0011396	biolink:NamedThing	loricrin keratoderma	A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.	DOVES_relaxed.owl
MONDO:0031421	biolink:NamedThing	Olmsted syndrome		DOVES_relaxed.owl
MONDO:0007424	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 1	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene.	DOVES_relaxed.owl
MONDO:0010817	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 2A	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene.	DOVES_relaxed.owl
MONDO:0010915	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 4A	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene.	DOVES_relaxed.owl
MONDO:0010963	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 6	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene.	DOVES_relaxed.owl
MONDO:0010973	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 5	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene.	DOVES_relaxed.owl
MONDO:0011031	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 10	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene.	DOVES_relaxed.owl
MONDO:0011032	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 11	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.	DOVES_relaxed.owl
MONDO:0011058	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 9	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene.	DOVES_relaxed.owl
MONDO:0011074	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 7	An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23.	DOVES_relaxed.owl
MONDO:0011102	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 12	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.	DOVES_relaxed.owl
MONDO:0011103	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 3A	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene.	DOVES_relaxed.owl
MONDO:0011159	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 13	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.	DOVES_relaxed.owl
MONDO:0011226	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 15	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene.	DOVES_relaxed.owl
MONDO:0011350	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 17	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene.	DOVES_relaxed.owl
MONDO:0011389	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 16	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3.	DOVES_relaxed.owl
MONDO:0011480	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 20	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene.	DOVES_relaxed.owl
MONDO:0011519	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 23	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.	DOVES_relaxed.owl
MONDO:0011568	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 25	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene.	DOVES_relaxed.owl
MONDO:0011625	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 18	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22.	DOVES_relaxed.owl
MONDO:0011657	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 24	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter.	DOVES_relaxed.owl
MONDO:0011660	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 22	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.	DOVES_relaxed.owl
MONDO:0011673	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 30	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26.	DOVES_relaxed.owl
MONDO:0011708	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 36	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.	DOVES_relaxed.owl
MONDO:0011761	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 21	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3.	DOVES_relaxed.owl
MONDO:0011832	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 44	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.	DOVES_relaxed.owl
MONDO:0011893	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 52	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32.	DOVES_relaxed.owl
MONDO:0011920	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 48	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene.	DOVES_relaxed.owl
MONDO:0011994	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 41	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene.	DOVES_relaxed.owl
MONDO:0012023	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 49	An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23.	DOVES_relaxed.owl
MONDO:0012030	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 43	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12.	DOVES_relaxed.owl
MONDO:0012083	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 28	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene.	DOVES_relaxed.owl
MONDO:0012086	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 31	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3.	DOVES_relaxed.owl
MONDO:0012090	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 47	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21.	DOVES_relaxed.owl
MONDO:0012196	biolink:NamedThing	autosomal dominant auditory neuropathy 1	Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene.	DOVES_relaxed.owl
MONDO:0012380	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 53	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12.	DOVES_relaxed.owl
MONDO:0012902	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 27	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1.	DOVES_relaxed.owl
MONDO:0012974	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 59	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3.	DOVES_relaxed.owl
MONDO:0012975	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 3B	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.	DOVES_relaxed.owl
MONDO:0012976	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 2B	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene.	DOVES_relaxed.owl
MONDO:0013114	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 50	An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32.	DOVES_relaxed.owl
MONDO:0013305	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 51	An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.	DOVES_relaxed.owl
MONDO:0013593	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 64	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene.	DOVES_relaxed.owl
MONDO:0013632	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 33	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34.	DOVES_relaxed.owl
MONDO:0013823	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 4B	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene.	DOVES_relaxed.owl
MONDO:0014283	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 56	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene.	DOVES_relaxed.owl
MONDO:0014291	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 54	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.	DOVES_relaxed.owl
MONDO:0014293	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 58	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12.	DOVES_relaxed.owl
MONDO:0014470	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 65	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.	DOVES_relaxed.owl
MONDO:0014594	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 67	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene.	DOVES_relaxed.owl
MONDO:0014603	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 40	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene.	DOVES_relaxed.owl
MONDO:0014738	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 69	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene.	DOVES_relaxed.owl
MONDO:0014740	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 68	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene.	DOVES_relaxed.owl
MONDO:0014853	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 70	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene.	DOVES_relaxed.owl
MONDO:0014854	biolink:NamedThing	autosomal dominant nonsyndromic hearing loss 66	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene.	DOVES_relaxed.owl
MONDO:0029137	biolink:NamedThing	hearing loss, autosomal dominant 74		DOVES_relaxed.owl
MONDO:0030058	biolink:NamedThing	hearing loss, autosomal dominant 77		DOVES_relaxed.owl
MONDO:0030549	biolink:NamedThing	hearing loss, autosomal dominant 81		DOVES_relaxed.owl
MONDO:0030719	biolink:NamedThing	deafness, autosomal dominant 82		DOVES_relaxed.owl
MONDO:0030723	biolink:NamedThing	hearing loss, autosomal dominant 83		DOVES_relaxed.owl
MONDO:0030724	biolink:NamedThing	hearing loss, autosomal dominant 84		DOVES_relaxed.owl
MONDO:0030998	biolink:NamedThing	hearing loss, autosomal dominant 80		DOVES_relaxed.owl
MONDO:0032802	biolink:NamedThing	hearing loss, autosomal dominant 37		DOVES_relaxed.owl
MONDO:0032911	biolink:NamedThing	hearing loss, autosomal dominant 75		DOVES_relaxed.owl
MONDO:0032917	biolink:NamedThing	hearing loss, autosomal dominant 76		DOVES_relaxed.owl
MONDO:0033258	biolink:NamedThing	hearing loss, autosomal dominant 71		DOVES_relaxed.owl
MONDO:0033259	biolink:NamedThing	hearing loss, autosomal dominant 72		DOVES_relaxed.owl
MONDO:0033260	biolink:NamedThing	hearing loss, autosomal dominant 73		DOVES_relaxed.owl
MONDO:0033261	biolink:NamedThing	hearing loss, autosomal dominant 34, with or without inflammation		DOVES_relaxed.owl
MONDO:0033665	biolink:NamedThing	hearing loss, autosomal dominant 78		DOVES_relaxed.owl
MONDO:0033668	biolink:NamedThing	hearing loss, autosomal dominant 79		DOVES_relaxed.owl
MONDO:0007429	biolink:NamedThing	optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		DOVES_relaxed.owl
MONDO:0014720	biolink:NamedThing	autosomal dominant optic atrophy plus syndrome	Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.	DOVES_relaxed.owl
MONDO:0008131	biolink:NamedThing	optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant		DOVES_relaxed.owl
MONDO:0024569	biolink:NamedThing	optic atrophy 8		DOVES_relaxed.owl
MONDO:0011330	biolink:NamedThing	spinocerebellar ataxia type 10	Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.	DOVES_relaxed.owl
MONDO:0018849	biolink:NamedThing	dentinogenesis imperfecta	Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.	DOVES_relaxed.owl
MONDO:0007443	biolink:NamedThing	congenital unilateral hypoplasia of depressor anguli oris	Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).	DOVES_relaxed.owl
MONDO:0008644	biolink:NamedThing	velocardiofacial syndrome	A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.	DOVES_relaxed.owl
MONDO:0012740	biolink:NamedThing	chromosome 22q11.2 deletion syndrome, distal	Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.	DOVES_relaxed.owl
MONDO:0022993	biolink:NamedThing	dipsogenic diabetes insipidus	Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism.	DOVES_relaxed.owl
MONDO:0023227	biolink:NamedThing	gestational diabetes insipidus	A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low.	DOVES_relaxed.owl
MONDO:0019846	biolink:NamedThing	acquired central diabetes insipidus	Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.	DOVES_relaxed.owl
MONDO:0007451	biolink:NamedThing	diabetes insipidus, nephrogenic, autosomal		DOVES_relaxed.owl
MONDO:0010581	biolink:NamedThing	diabetes insipidus, nephrogenic, X-linked		DOVES_relaxed.owl
MONDO:0007452	biolink:NamedThing	maturity-onset diabetes of the young type 1	Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha.	DOVES_relaxed.owl
MONDO:0018911	biolink:NamedThing	maturity-onset diabetes of the young	MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.	DOVES_relaxed.owl
MONDO:0007453	biolink:NamedThing	maturity-onset diabetes of the young type 2	Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes.	DOVES_relaxed.owl
MONDO:0010894	biolink:NamedThing	maturity-onset diabetes of the young type 3	Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.	DOVES_relaxed.owl
MONDO:0011667	biolink:NamedThing	maturity-onset diabetes of the young type 4	Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes.	DOVES_relaxed.owl
MONDO:0011668	biolink:NamedThing	maturity-onset diabetes of the young type 6	Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes.	DOVES_relaxed.owl
MONDO:0012348	biolink:NamedThing	maturity-onset diabetes of the young type 8	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene.	DOVES_relaxed.owl
MONDO:0012513	biolink:NamedThing	maturity-onset diabetes of the young type 7	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene.	DOVES_relaxed.owl
MONDO:0012818	biolink:NamedThing	maturity-onset diabetes of the young type 9	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene.	DOVES_relaxed.owl
MONDO:0013240	biolink:NamedThing	maturity-onset diabetes of the young type 10	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene.	DOVES_relaxed.owl
MONDO:0013242	biolink:NamedThing	maturity-onset diabetes of the young type 11	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene.	DOVES_relaxed.owl
MONDO:0014458	biolink:NamedThing	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene.	DOVES_relaxed.owl
MONDO:0014589	biolink:NamedThing	maturity-onset diabetes of the young type 13	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene.	DOVES_relaxed.owl
MONDO:0014674	biolink:NamedThing	maturity-onset diabetes of the young type 14	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene.	DOVES_relaxed.owl
MONDO:0007454	biolink:NamedThing	type 1 diabetes mellitus 2	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene.	DOVES_relaxed.owl
MONDO:0009100	biolink:NamedThing	type 1 diabetes mellitus 1	Any type 1 diabetes mellitus that is caused by variation in genes located in the MHC complex on chromosome 6p21.3.	DOVES_relaxed.owl
MONDO:0010861	biolink:NamedThing	type 1 diabetes mellitus 3	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26.	DOVES_relaxed.owl
MONDO:0010862	biolink:NamedThing	type 1 diabetes mellitus 4	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13.	DOVES_relaxed.owl
MONDO:0010863	biolink:NamedThing	type 1 diabetes mellitus 5	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene.	DOVES_relaxed.owl
MONDO:0010864	biolink:NamedThing	type 1 diabetes mellitus 7	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31.	DOVES_relaxed.owl
MONDO:0010950	biolink:NamedThing	type 1 diabetes mellitus 8	A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27.	DOVES_relaxed.owl
MONDO:0011016	biolink:NamedThing	type 1 diabetes mellitus 11	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31.	DOVES_relaxed.owl
MONDO:0011033	biolink:NamedThing	type 1 diabetes mellitus 13	A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34.	DOVES_relaxed.owl
MONDO:0011068	biolink:NamedThing	type 1 diabetes mellitus 12	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene.	DOVES_relaxed.owl
MONDO:0011123	biolink:NamedThing	type 1 diabetes mellitus 15	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21.	DOVES_relaxed.owl
MONDO:0011167	biolink:NamedThing	type 1 diabetes mellitus 6	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21.	DOVES_relaxed.owl
MONDO:0011168	biolink:NamedThing	type 1 diabetes mellitus 10	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene.	DOVES_relaxed.owl
MONDO:0011302	biolink:NamedThing	type 1 diabetes mellitus 17	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25.	DOVES_relaxed.owl
MONDO:0011572	biolink:NamedThing	type 1 diabetes mellitus 18	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1.	DOVES_relaxed.owl
MONDO:0012422	biolink:NamedThing	type 1 diabetes mellitus 19	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3.	DOVES_relaxed.owl
MONDO:0012919	biolink:NamedThing	type 1 diabetes mellitus 20	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene.	DOVES_relaxed.owl
MONDO:0012920	biolink:NamedThing	type 1 diabetes mellitus 21	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25.	DOVES_relaxed.owl
MONDO:0012921	biolink:NamedThing	type 1 diabetes mellitus 22	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene.	DOVES_relaxed.owl
MONDO:0012961	biolink:NamedThing	type 1 diabetes mellitus 23	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27.	DOVES_relaxed.owl
MONDO:0013078	biolink:NamedThing	type 1 diabetes mellitus 24	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31.	DOVES_relaxed.owl
MONDO:0007471	biolink:NamedThing	Doyne honeycomb retinal dystrophy	Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.	DOVES_relaxed.owl
MONDO:0007639	biolink:NamedThing	fundus albipunctatus	Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.	DOVES_relaxed.owl
MONDO:0008865	biolink:NamedThing	Bietti crystalline corneoretinal dystrophy	Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.	DOVES_relaxed.owl
MONDO:0009236	biolink:NamedThing	Kandori fleck retina	Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.	DOVES_relaxed.owl
MONDO:0020245	biolink:NamedThing	disease predisposing to age-related macular degeneration		DOVES_relaxed.owl
MONDO:0017627	biolink:NamedThing	congenital hereditary facial paralysis-variable hearing loss syndrome	Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.	DOVES_relaxed.owl
MONDO:0013894	biolink:NamedThing	short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome		DOVES_relaxed.owl
MONDO:0015462	biolink:NamedThing	thin ribs-tubular bones-dysmorphism syndrome		DOVES_relaxed.owl
MONDO:0800063	biolink:NamedThing	primordial dwarfism and slender bone disorder	A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death.	DOVES_relaxed.owl
MONDO:0009191	biolink:NamedThing	Lowry-Wood syndrome	Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0009318	biolink:NamedThing	Hallermann-Streiff syndrome	Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.	DOVES_relaxed.owl
MONDO:0010117	biolink:NamedThing	3M syndrome 1	Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene.	DOVES_relaxed.owl
MONDO:0011215	biolink:NamedThing	osteocraniostenosis	Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.	DOVES_relaxed.owl
MONDO:0011715	biolink:NamedThing	Seckel syndrome 2	Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.	DOVES_relaxed.owl
MONDO:0013039	biolink:NamedThing	3M syndrome 2	Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.	DOVES_relaxed.owl
MONDO:0013443	biolink:NamedThing	Seckel syndrome 5	Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene.	DOVES_relaxed.owl
MONDO:0013627	biolink:NamedThing	3M syndrome 3	Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.	DOVES_relaxed.owl
MONDO:0014347	biolink:NamedThing	short stature with microcephaly and distinctive facies		DOVES_relaxed.owl
MONDO:0014350	biolink:NamedThing	Seckel syndrome 8	Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene.	DOVES_relaxed.owl
MONDO:0014686	biolink:NamedThing	short stature, microcephaly, and endocrine dysfunction		DOVES_relaxed.owl
MONDO:0014722	biolink:NamedThing	Roifman syndrome		DOVES_relaxed.owl
MONDO:0014767	biolink:NamedThing	Seckel syndrome 9	Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene.	DOVES_relaxed.owl
MONDO:0014991	biolink:NamedThing	Seckel syndrome 10	Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.	DOVES_relaxed.owl
MONDO:0032684	biolink:NamedThing	intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency		DOVES_relaxed.owl
MONDO:0009136	biolink:NamedThing	dyskeratosis congenita, autosomal recessive 1	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.	DOVES_relaxed.owl
MONDO:0014600	biolink:NamedThing	dyskeratosis congenita, autosomal recessive 6	Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene.	DOVES_relaxed.owl
MONDO:0027353	biolink:NamedThing	autosomal recessive dyskeratosis congenita 4	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33.	DOVES_relaxed.owl
MONDO:0031057	biolink:NamedThing	dyskeratosis congenita, digenic		DOVES_relaxed.owl
MONDO:0100152	biolink:NamedThing	DKC1-related disorder	Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene.	DOVES_relaxed.owl
MONDO:0800366	biolink:NamedThing	dyskeratosis congenita, autosomal dominant 4		DOVES_relaxed.owl
MONDO:0800370	biolink:NamedThing	dyskeratosis congenita, autosomal recessive 7		DOVES_relaxed.owl
MONDO:0007492	biolink:NamedThing	early-onset generalized limb-onset dystonia	A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.	DOVES_relaxed.owl
MONDO:0100016	biolink:NamedThing	early-onset generalized dystonia		DOVES_relaxed.owl
MONDO:0007493	biolink:NamedThing	torsion dystonia 4	DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).	DOVES_relaxed.owl
MONDO:0015990	biolink:NamedThing	focal, segmental or multifocal dystonia	A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.	DOVES_relaxed.owl
MONDO:0009141	biolink:NamedThing	torsion dystonia 2	Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.	DOVES_relaxed.owl
MONDO:0011886	biolink:NamedThing	torsion dystonia 13	DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement.	DOVES_relaxed.owl
MONDO:0012895	biolink:NamedThing	torsion dystonia 17	A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.	DOVES_relaxed.owl
MONDO:0014019	biolink:NamedThing	dystonia 24	Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.	DOVES_relaxed.owl
MONDO:0014627	biolink:NamedThing	dystonia 27	Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.	DOVES_relaxed.owl
MONDO:0019772	biolink:NamedThing	blepharospasm-oromandibular dystonia syndrome	Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.	DOVES_relaxed.owl
MONDO:0044637	biolink:NamedThing	infantile-onset generalized dyskinesia with orofacial involvement		DOVES_relaxed.owl
MONDO:0100015	biolink:NamedThing	adult-onset segmental dystonia		DOVES_relaxed.owl
MONDO:0007495	biolink:NamedThing	dystonia 5	Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.	DOVES_relaxed.owl
MONDO:0012994	biolink:NamedThing	dopa-responsive dystonia due to sepiapterin reductase deficiency	Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.	DOVES_relaxed.owl
MONDO:0100098	biolink:NamedThing	dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disablity, and only minimal, if any, hyperphenylalaninemia.	DOVES_relaxed.owl
MONDO:0017756	biolink:NamedThing	disorder of pterin metabolism		DOVES_relaxed.owl
MONDO:0100184	biolink:NamedThing	GTP cyclohydrolase I deficiency	A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset "benign" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease.	DOVES_relaxed.owl
MONDO:0100186	biolink:NamedThing	GTP cyclohydrolase I deficiency with hyperphenylalaninemia		DOVES_relaxed.owl
MONDO:0007503	biolink:NamedThing	ear without helix		DOVES_relaxed.owl
MONDO:0016043	biolink:NamedThing	isolated cleft lip	Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.	DOVES_relaxed.owl
MONDO:0007509	biolink:NamedThing	ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		DOVES_relaxed.owl
MONDO:0013982	biolink:NamedThing	ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant		DOVES_relaxed.owl
MONDO:0007514	biolink:NamedThing	ectopia lentis 1, isolated, autosomal dominant	Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene.	DOVES_relaxed.owl
MONDO:0009152	biolink:NamedThing	ectopia lentis 2, isolated, autosomal recessive	An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.	DOVES_relaxed.owl
MONDO:0009153	biolink:NamedThing	ectopia lentis et pupillae		DOVES_relaxed.owl
MONDO:0007519	biolink:NamedThing	Edinburgh malformation syndrome	Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.	DOVES_relaxed.owl
MONDO:0018731	biolink:NamedThing	lethal multiple congenital anomalies/dysmorphic syndrome		DOVES_relaxed.owl
MONDO:0009202	biolink:NamedThing	Thakker-Donnai syndrome		DOVES_relaxed.owl
MONDO:0013050	biolink:NamedThing	lethal polymalformative syndrome, Boissel type		DOVES_relaxed.owl
MONDO:0015672	biolink:NamedThing	diprosopus	Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems. Cleft lip and palate have been reported in rare cases.	DOVES_relaxed.owl
MONDO:0018810	biolink:NamedThing	lethal hydranencephaly-diaphragmatic hernia syndrome	Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.	DOVES_relaxed.owl
MONDO:0007520	biolink:NamedThing	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1	An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.	DOVES_relaxed.owl
MONDO:0011670	biolink:NamedThing	Ehlers-Danlos syndrome due to tenascin-X deficiency		DOVES_relaxed.owl
MONDO:0016528	biolink:NamedThing	limb body wall complex	Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.	DOVES_relaxed.owl
MONDO:0017235	biolink:NamedThing	familial omphalocele syndrome with facial dysmorphism	Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.	DOVES_relaxed.owl
MONDO:0017301	biolink:NamedThing	pericardial and diaphragmatic defect	Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.	DOVES_relaxed.owl
MONDO:0017798	biolink:NamedThing	Spigelian hernia-cryptorchidism syndrome		DOVES_relaxed.owl
MONDO:0007523	biolink:NamedThing	Ehlers-Danlos syndrome, hypermobility type	Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.	DOVES_relaxed.owl
MONDO:0007525	biolink:NamedThing	Ehlers-Danlos syndrome, arthrochalasis type	Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.	DOVES_relaxed.owl
MONDO:0007527	biolink:NamedThing	Ehlers-Danlos syndrome, periodontitis type	Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.	DOVES_relaxed.owl
MONDO:0007528	biolink:NamedThing	Ehlers-Danlos syndrome, autosomal dominant, type unspecified		DOVES_relaxed.owl
MONDO:0007842	biolink:NamedThing	joint laxity, familial	A type of Ehlers-Danlos syndrome characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance.	DOVES_relaxed.owl
MONDO:0009161	biolink:NamedThing	Ehlers-Danlos syndrome, dermatosparaxis type	A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.	DOVES_relaxed.owl
MONDO:0010586	biolink:NamedThing	X-linked Ehlers-Danlos syndrome	Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive.	DOVES_relaxed.owl
MONDO:0012114	biolink:NamedThing	Ehlers-Danlos syndrome, Beasley-Cohen type		DOVES_relaxed.owl
MONDO:0016470	biolink:NamedThing	Ehlers-Danlos/osteogenesis imperfecta syndrome	Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.	DOVES_relaxed.owl
MONDO:0034021	biolink:NamedThing	spondylodysplastic Ehlers-Danlos syndrome		DOVES_relaxed.owl
MONDO:0034022	biolink:NamedThing	Bethlem myopathy 2		DOVES_relaxed.owl
MONDO:0034024	biolink:NamedThing	kyphoscoliotic Ehlers-Danlos syndrome	A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP14 (formerly FKBP22), and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.	DOVES_relaxed.owl
MONDO:0040501	biolink:NamedThing	ehlers-danlos syndrome, arthrochalasia type, 2		DOVES_relaxed.owl
MONDO:0007533	biolink:NamedThing	elliptocytosis 2	Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.	DOVES_relaxed.owl
MONDO:0008165	biolink:NamedThing	southeast Asian ovalocytosis	Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.	DOVES_relaxed.owl
MONDO:0009334	biolink:NamedThing	hemolytic anemia with thermal sensitivity of red cells		DOVES_relaxed.owl
MONDO:0012731	biolink:NamedThing	elliptocytosis 1	Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.	DOVES_relaxed.owl
MONDO:0054780	biolink:NamedThing	elliptocytosis 3		DOVES_relaxed.owl
MONDO:0019716	biolink:NamedThing	overgrowth syndrome	A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.	DOVES_relaxed.owl
MONDO:0007590	biolink:NamedThing	hemifacial hypertrophy	Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.	DOVES_relaxed.owl
MONDO:0009331	biolink:NamedThing	isolated hemihyperplasia	Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma.	DOVES_relaxed.owl
MONDO:0011723	biolink:NamedThing	hemifacial myohyperplasia	Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities.	DOVES_relaxed.owl
MONDO:0013125	biolink:NamedThing	CLAPO syndrome	CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).	DOVES_relaxed.owl
MONDO:0015768	biolink:NamedThing	trisomy 5p	Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.	DOVES_relaxed.owl
MONDO:0019873	biolink:NamedThing	4p16.3 microduplication syndrome	4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.	DOVES_relaxed.owl
MONDO:0035162	biolink:NamedThing	PIK3CA-related overgrowth syndrome		DOVES_relaxed.owl
MONDO:0015930	biolink:NamedThing	respiratory malformation		DOVES_relaxed.owl
MONDO:0008888	biolink:NamedThing	Williams-Campbell syndrome		DOVES_relaxed.owl
MONDO:0009362	biolink:NamedThing	growth delay-hydrocephaly-lung hypoplasia syndrome	Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.	DOVES_relaxed.owl
MONDO:0009513	biolink:NamedThing	laryngo-onycho-cutaneous syndrome	LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.	DOVES_relaxed.owl
MONDO:0009933	biolink:NamedThing	congenital pulmonary lymphangiectasia	Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.	DOVES_relaxed.owl
MONDO:0009936	biolink:NamedThing	familial primary pulmonary hypoplasia	Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.	DOVES_relaxed.owl
MONDO:0011116	biolink:NamedThing	lung agenesis-heart defect-thumb anomalies syndrome	Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.	DOVES_relaxed.owl
MONDO:0015236	biolink:NamedThing	aortic arch defects	Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of tihs system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren.	DOVES_relaxed.owl
MONDO:0016060	biolink:NamedThing	laryngotracheoesophageal cleft	A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.	DOVES_relaxed.owl
MONDO:0016080	biolink:NamedThing	congenital bronchobiliary fistula	Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.	DOVES_relaxed.owl
MONDO:0016523	biolink:NamedThing	bronchogenic cyst	Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.	DOVES_relaxed.owl
MONDO:0016580	biolink:NamedThing	congenital pulmonary airway malformation	An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size.	DOVES_relaxed.owl
MONDO:0017843	biolink:NamedThing	congenital pulmonary sequestration	A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation.	DOVES_relaxed.owl
MONDO:0018058	biolink:NamedThing	tracheal agenesis	Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.	DOVES_relaxed.owl
MONDO:0018694	biolink:NamedThing	isolated tracheo-esophageal fistula	A congenital or acquired abnormal communication between the trachea and the esophagus.	DOVES_relaxed.owl
MONDO:0019091	biolink:NamedThing	bronchopulmonary dysplasia	Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.	DOVES_relaxed.owl
MONDO:0020110	biolink:NamedThing	pulmonary agenesis	An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities.	DOVES_relaxed.owl
MONDO:0600016	biolink:NamedThing	acinar dysplasia	A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4.	DOVES_relaxed.owl
MONDO:0800133	biolink:NamedThing	pulmonary hypoplasia	A respiratory malformation characterized by the presence of both bronchi (albeit rudimentary) and alveoli in an under-developed lobe. Both the size and the weight of the lung are reduced. The true prevalence is not well known (1.4% of all births according to Knox et al. 13), but in cases of premature rupture of membranes at 15-28 weeks gestation, the reported prevalence of pulmonary hypoplasia ranges from 9 to 28%. Factors that contribute to pulmonary hypoplasia include adequate volume of the thoracic cavity, pulmonary fluid dynamics, and abnormal fetal breathing movements.	DOVES_relaxed.owl
MONDO:0015221	biolink:NamedThing	non-syndromic respiratory or mediastinal malformation	A respiratory or mediastinal malformation that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0009164	biolink:NamedThing	encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts		DOVES_relaxed.owl
MONDO:0011229	biolink:NamedThing	ethylmalonic encephalopathy	Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.	DOVES_relaxed.owl
MONDO:0011412	biolink:NamedThing	familial encephalopathy with neuroserpin inclusion bodies		DOVES_relaxed.owl
MONDO:0011953	biolink:NamedThing	familial acute necrotizing encephalopathy	Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.	DOVES_relaxed.owl
MONDO:0013726	biolink:NamedThing	encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1		DOVES_relaxed.owl
MONDO:0014905	biolink:NamedThing	encephalopathy due to defective mitochondrial and peroxisomal fission 2		DOVES_relaxed.owl
MONDO:0014968	biolink:NamedThing	encephalopathy, progressive, with amyotrophy and optic atrophy		DOVES_relaxed.owl
MONDO:0020853	biolink:NamedThing	encephalitis/encephalopathy, mild, with reversible myelin vacuolization		DOVES_relaxed.owl
MONDO:0032681	biolink:NamedThing	encephalopathy, progressive, early-onset, with episodic rhabdomyolysis		DOVES_relaxed.owl
MONDO:0016365	biolink:NamedThing	familial primary hyperparathyroidism	An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0020524	biolink:NamedThing	primary parathyroid hyperplasia		DOVES_relaxed.owl
MONDO:0015185	biolink:NamedThing	intestinal polyposis syndrome		DOVES_relaxed.owl
MONDO:0007546	biolink:NamedThing	myeloproliferative disorder, chronic, with eosinophilia		DOVES_relaxed.owl
MONDO:0007548	biolink:NamedThing	transient bullous dermolysis of the newborn	Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.	DOVES_relaxed.owl
MONDO:0007549	biolink:NamedThing	generalized dominant dystrophic epidermolysis bullosa	Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.	DOVES_relaxed.owl
MONDO:0007552	biolink:NamedThing	pretibial dystrophic epidermolysis bullosa	Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.	DOVES_relaxed.owl
MONDO:0009178	biolink:NamedThing	epidermolysis bullosa dystrophica Neurotrophica		DOVES_relaxed.owl
MONDO:0009179	biolink:NamedThing	recessive dystrophic epidermolysis bullosa	Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.	DOVES_relaxed.owl
MONDO:0011398	biolink:NamedThing	dystrophic epidermolysis bullosa pruriginosa	Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.	DOVES_relaxed.owl
MONDO:0015552	biolink:NamedThing	acral dystrophic epidermolysis bullosa	Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.	DOVES_relaxed.owl
MONDO:0015553	biolink:NamedThing	dystrophic epidermolysis bullosa, nails only	Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails.	DOVES_relaxed.owl
MONDO:0019521	biolink:NamedThing	centripetalis recessive dystrophic epidermolysis bullosa	Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk.	DOVES_relaxed.owl
MONDO:0019522	biolink:NamedThing	recessive dystrophic epidermolysis bullosa-generalized other	Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.	DOVES_relaxed.owl
MONDO:0035349	biolink:NamedThing	localized dystrophic epidermolysis bullosa	A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance.	DOVES_relaxed.owl
MONDO:0800206	biolink:NamedThing	epidermolysis bullosa dystrophica with subcorneal cleavage		DOVES_relaxed.owl
MONDO:0007550	biolink:NamedThing	epidermolysis bullosa simplex 1A, generalized severe	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.	DOVES_relaxed.owl
MONDO:0007551	biolink:NamedThing	epidermolysis bullosa simplex 1C, localized	A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.	DOVES_relaxed.owl
MONDO:0007554	biolink:NamedThing	epidermolysis bullosa simplex 1B, generalized intermediate	Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.	DOVES_relaxed.owl
MONDO:0007555	biolink:NamedThing	pidermolysis bullosa simplex 5A, Ogna type	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.	DOVES_relaxed.owl
MONDO:0007556	biolink:NamedThing	epidermolysis bullosa simplex 2F, with mottled pigmentation	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.	DOVES_relaxed.owl
MONDO:0010976	biolink:NamedThing	epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.	DOVES_relaxed.owl
MONDO:0012258	biolink:NamedThing	epidermolysis bullosa simplex 2E, with migratory circinate erythema	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.	DOVES_relaxed.owl
MONDO:0012807	biolink:NamedThing	epidermolysis bullosa simplex 5C, with pyloric atresia	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.	DOVES_relaxed.owl
MONDO:0014014	biolink:NamedThing	epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive		DOVES_relaxed.owl
MONDO:0014180	biolink:NamedThing	epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency		DOVES_relaxed.owl
MONDO:0014661	biolink:NamedThing	epidermolysis bullosa simplex with nail dystrophy		DOVES_relaxed.owl
MONDO:0015550	biolink:NamedThing	suprabasal epidermolysis bullosa simplex	A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes.	DOVES_relaxed.owl
MONDO:0016514	biolink:NamedThing	epidermolysis bullosa simplex with anodontia/hypodontia		DOVES_relaxed.owl
MONDO:0030489	biolink:NamedThing	epidermolysis bullosa simplex 2A, generalized severe		DOVES_relaxed.owl
MONDO:0030525	biolink:NamedThing	epidermolysis bullosa simplex 2B, generalized intermediate		DOVES_relaxed.owl
MONDO:0030527	biolink:NamedThing	epidermolysis bullosa simplex 2C, localized		DOVES_relaxed.owl
MONDO:0030535	biolink:NamedThing	epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive		DOVES_relaxed.owl
MONDO:0035684	biolink:NamedThing	epidermolysis bullosa simplex without extracutaneous involvement		DOVES_relaxed.owl
MONDO:0035685	biolink:NamedThing	epidermolysis bullosa simplex with extracutaneous involvement		DOVES_relaxed.owl
MONDO:0007558	biolink:NamedThing	benign occipital epilepsy	Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.	DOVES_relaxed.owl
MONDO:0020072	biolink:NamedThing	childhood-onset epilepsy syndrome	A epilepsy syndrome that occurs during childhood.	DOVES_relaxed.owl
MONDO:0011970	biolink:NamedThing	rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome		DOVES_relaxed.owl
MONDO:0015345	biolink:NamedThing	perioral myoclonia with absences	Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.	DOVES_relaxed.owl
MONDO:0015346	biolink:NamedThing	Jeavons syndrome	Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.	DOVES_relaxed.owl
MONDO:0015584	biolink:NamedThing	febrile infection-related epilepsy syndrome	Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness.	DOVES_relaxed.owl
MONDO:0015585	biolink:NamedThing	cryptogenic late-onset epileptic spasms	Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.	DOVES_relaxed.owl
MONDO:0015587	biolink:NamedThing	rolandic epilepsy-speech dyspraxia syndrome	A rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.	DOVES_relaxed.owl
MONDO:0017325	biolink:NamedThing	early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.	DOVES_relaxed.owl
MONDO:0018199	biolink:NamedThing	new-onset refractory status epilepticus	New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.	DOVES_relaxed.owl
MONDO:0019485	biolink:NamedThing	idiopathic hemiconvulsion-hemiplegia syndrome	A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.	DOVES_relaxed.owl
MONDO:0100020	biolink:NamedThing	atypical childhood epilepsy with centrotemporal spikes	A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit.	DOVES_relaxed.owl
MONDO:0100021	biolink:NamedThing	photosensitive occipital lobe epilepsy	A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty.	DOVES_relaxed.owl
MONDO:0007559	biolink:NamedThing	photoparoxysmal response 1		DOVES_relaxed.owl
MONDO:0012304	biolink:NamedThing	photoparoxysmal response 2		DOVES_relaxed.owl
MONDO:0012305	biolink:NamedThing	photoparoxysmal response 3		DOVES_relaxed.owl
MONDO:0007561	biolink:NamedThing	multiple epiphyseal dysplasia type 1	Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.	DOVES_relaxed.owl
MONDO:0009189	biolink:NamedThing	multiple epiphyseal dysplasia type 4	Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.	DOVES_relaxed.owl
MONDO:0011109	biolink:NamedThing	multiple epiphyseal dysplasia, Lowry type	Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.	DOVES_relaxed.owl
MONDO:0011765	biolink:NamedThing	multiple epiphyseal dysplasia type 5	Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.	DOVES_relaxed.owl
MONDO:0011778	biolink:NamedThing	multiple epiphyseal dysplasia, Al-Gazali type	Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0012253	biolink:NamedThing	multiple epiphyseal dysplasia, with severe proximal femoral dysplasia	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.	DOVES_relaxed.owl
MONDO:0012254	biolink:NamedThing	multiple epiphyseal dysplasia, with miniepiphyses	Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.	DOVES_relaxed.owl
MONDO:0015627	biolink:NamedThing	multiple epiphyseal dysplasia due to collagen 9 anomaly	Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.	DOVES_relaxed.owl
MONDO:0054680	biolink:NamedThing	epiphyseal dysplasia, multiple, 7		DOVES_relaxed.owl
MONDO:0007565	biolink:NamedThing	familial cylindromatosis		DOVES_relaxed.owl
MONDO:0011114	biolink:NamedThing	familial multiple trichoepithelioma		DOVES_relaxed.owl
MONDO:0007568	biolink:NamedThing	aortic aneurysm, familial thoracic 4	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene.	DOVES_relaxed.owl
MONDO:0011770	biolink:NamedThing	aortic aneurysm, familial thoracic 2		DOVES_relaxed.owl
MONDO:0012730	biolink:NamedThing	aortic aneurysm, familial thoracic 6	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.	DOVES_relaxed.owl
MONDO:0013418	biolink:NamedThing	aortic aneurysm, familial thoracic 7		DOVES_relaxed.owl
MONDO:0014187	biolink:NamedThing	aortic aneurysm, familial thoracic 8	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.	DOVES_relaxed.owl
MONDO:0014514	biolink:NamedThing	aortic aneurysm, familial thoracic 9	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.	DOVES_relaxed.owl
MONDO:0014950	biolink:NamedThing	aortic aneurysm, familial thoracic 10	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.	DOVES_relaxed.owl
MONDO:0024559	biolink:NamedThing	aortic aneurysm, familial thoracic 1		DOVES_relaxed.owl
MONDO:0030731	biolink:NamedThing	aortic aneurysm, familial thoracic 12		DOVES_relaxed.owl
MONDO:0007571	biolink:NamedThing	primary erythermalgia	Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.	DOVES_relaxed.owl
MONDO:0035149	biolink:NamedThing	secondary erythromelalgia		DOVES_relaxed.owl
MONDO:0007572	biolink:NamedThing	primary familial polycythemia due to EPO receptor mutation	Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.	DOVES_relaxed.owl
MONDO:0009892	biolink:NamedThing	Chuvash polycythemia	Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.	DOVES_relaxed.owl
MONDO:0033483	biolink:NamedThing	erythrocytosis, familial, 5	Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene.	DOVES_relaxed.owl
MONDO:0054801	biolink:NamedThing	erythrocytosis, familial, 6		DOVES_relaxed.owl
MONDO:0054802	biolink:NamedThing	erythrocytosis, familial, 7		DOVES_relaxed.owl
MONDO:0017681	biolink:NamedThing	erythrokeratoderma variabilis progressiva	A type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP.	DOVES_relaxed.owl
MONDO:0017836	biolink:NamedThing	erythrokeratoderma en cocardes	Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0018774	biolink:NamedThing	erythrokeratodermia-cardiomyopathy syndrome	A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.	DOVES_relaxed.owl
MONDO:0007586	biolink:NamedThing	exostoses, multiple, type 2	This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.	DOVES_relaxed.owl
MONDO:0010846	biolink:NamedThing	exostoses, multiple, type III		DOVES_relaxed.owl
MONDO:0007589	biolink:NamedThing	exudative vitreoretinopathy 1		DOVES_relaxed.owl
MONDO:0010588	biolink:NamedThing	exudative vitreoretinopathy 2, X-linked	Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene.	DOVES_relaxed.owl
MONDO:0011151	biolink:NamedThing	exudative vitreoretinopathy 4		DOVES_relaxed.owl
MONDO:0011592	biolink:NamedThing	exudative vitreoretinopathy 3		DOVES_relaxed.owl
MONDO:0013218	biolink:NamedThing	exudative vitreoretinopathy 5	Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene.	DOVES_relaxed.owl
MONDO:0014652	biolink:NamedThing	exudative vitreoretinopathy 6	Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene.	DOVES_relaxed.owl
MONDO:0033123	biolink:NamedThing	exudative vitreoretinopathy 7		DOVES_relaxed.owl
MONDO:0007594	biolink:NamedThing	factor 5 excess with spontaneous thrombosis		DOVES_relaxed.owl
MONDO:0008559	biolink:NamedThing	thrombophilia due to thrombin defect	The formation of a blood clot (thrombus) in the lumen of a vein.	DOVES_relaxed.owl
MONDO:0010432	biolink:NamedThing	thrombophilia, X-linked, due to factor 9 defect	A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9).	DOVES_relaxed.owl
MONDO:0012872	biolink:NamedThing	thrombophilia, familial, due to decreased release of tissue plasminogen activator		DOVES_relaxed.owl
MONDO:0012876	biolink:NamedThing	heparin cofactor 2 deficiency		DOVES_relaxed.owl
MONDO:0013143	biolink:NamedThing	hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency		DOVES_relaxed.owl
MONDO:0013144	biolink:NamedThing	hereditary antithrombin deficiency	A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).	DOVES_relaxed.owl
MONDO:0019144	biolink:NamedThing	hereditary thrombophilia due to congenital protein S deficiency	Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.	DOVES_relaxed.owl
MONDO:0019145	biolink:NamedThing	hereditary thrombophilia due to congenital protein C deficiency	Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.	DOVES_relaxed.owl
MONDO:0007600	biolink:NamedThing	primary Fanconi syndrome	A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.	DOVES_relaxed.owl
MONDO:0100238	biolink:NamedThing	inherited Fanconi renotubular syndrome	An instance of Fanconi renotubular syndrome that is inherited.	DOVES_relaxed.owl
MONDO:0030056	biolink:NamedThing	Fanconi renotubular syndrome 5		DOVES_relaxed.owl
MONDO:0007601	biolink:NamedThing	familial Mediterranean fever, autosomal dominant		DOVES_relaxed.owl
MONDO:0018739	biolink:NamedThing	neonatal alloimmune neutropenia		DOVES_relaxed.owl
MONDO:0007609	biolink:NamedThing	fibromatosis, gingival, 1	Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene.	DOVES_relaxed.owl
MONDO:0011563	biolink:NamedThing	fibromatosis, gingival, 2		DOVES_relaxed.owl
MONDO:0012378	biolink:NamedThing	fibromatosis, gingival, 3		DOVES_relaxed.owl
MONDO:0012598	biolink:NamedThing	fibromatosis, gingival, 4		DOVES_relaxed.owl
MONDO:0033493	biolink:NamedThing	fibromatosis, gingival, 5		DOVES_relaxed.owl
MONDO:0025699	biolink:NamedThing	Coffin-Siris syndrome 12		DOVES_relaxed.owl
MONDO:0032702	biolink:NamedThing	Coffin-Siris syndrome 8	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene.	DOVES_relaxed.owl
MONDO:0032791	biolink:NamedThing	Coffin-Siris syndrome 10		DOVES_relaxed.owl
MONDO:0032912	biolink:NamedThing	Coffin-Siris syndrome 11		DOVES_relaxed.owl
MONDO:0054831	biolink:NamedThing	Coffin-Siris syndrome 7	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene.	DOVES_relaxed.owl
MONDO:0009470	biolink:NamedThing	Baraitser-Winter syndrome 1	Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene.	DOVES_relaxed.owl
MONDO:0014914	biolink:NamedThing	Dias-Logan syndrome	Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene.	DOVES_relaxed.owl
MONDO:0032770	biolink:NamedThing	intellectual developmental disorder with severe speech and ambulation defects	Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene.	DOVES_relaxed.owl
MONDO:0033492	biolink:NamedThing	Coffin-Siris syndrome 6	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene.	DOVES_relaxed.owl
MONDO:0060763	biolink:NamedThing	intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene.	DOVES_relaxed.owl
MONDO:0700121	biolink:NamedThing	ACTL6A-related BAFopathy	Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene.	DOVES_relaxed.owl
MONDO:0700122	biolink:NamedThing	PBRM1-related BAFopathy	Any BAFopathy in which the cause of the disease is a mutation in the PBRM1 gene.	DOVES_relaxed.owl
MONDO:0700123	biolink:NamedThing	SMARCC1-related BAFopathy	Any BAFopathy in which the cause of the disease is a mutation in the SMARCC1 gene.	DOVES_relaxed.owl
MONDO:0007620	biolink:NamedThing	fish eye disease	Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.	DOVES_relaxed.owl
MONDO:0011149	biolink:NamedThing	premature aging syndrome, Okamoto type		DOVES_relaxed.owl
MONDO:0020256	biolink:NamedThing	congenital trochlear nerve palsy		DOVES_relaxed.owl
MONDO:0007627	biolink:NamedThing	focal facial dermal dysplasia type I	Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia.	DOVES_relaxed.owl
MONDO:0009203	biolink:NamedThing	focal facial dermal dysplasia type III	Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.	DOVES_relaxed.owl
MONDO:0013997	biolink:NamedThing	focal facial dermal dysplasia type IV	Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.	DOVES_relaxed.owl
MONDO:0007628	biolink:NamedThing	foveal hypoplasia 1	Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene.	DOVES_relaxed.owl
MONDO:0012216	biolink:NamedThing	foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome		DOVES_relaxed.owl
MONDO:0008136	biolink:NamedThing	isolated optic nerve hypoplasia		DOVES_relaxed.owl
MONDO:0007630	biolink:NamedThing	North Carolina macular dystrophy	North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.	DOVES_relaxed.owl
MONDO:0011957	biolink:NamedThing	retinal macular dystrophy type 2	Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.	DOVES_relaxed.owl
MONDO:0012139	biolink:NamedThing	macular dystrophy, retinal, 3		DOVES_relaxed.owl
MONDO:0016894	biolink:NamedThing	partial deletion of the short arm of chromosome 16		DOVES_relaxed.owl
MONDO:0007716	biolink:NamedThing	alpha thalassemia-intellectual disability syndrome type 1	Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.	DOVES_relaxed.owl
MONDO:0010856	biolink:NamedThing	autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).	DOVES_relaxed.owl
MONDO:0012756	biolink:NamedThing	proximal 16p11.2 microdeletion syndrome	A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.	DOVES_relaxed.owl
MONDO:0013320	biolink:NamedThing	chromosome 16p12.2-p11.2 deletion syndrome	16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0016836	biolink:NamedThing	16p13.11 microdeletion syndrome	16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.	DOVES_relaxed.owl
MONDO:0022752	biolink:NamedThing	chromosome 16p13.3 deletion syndrome		DOVES_relaxed.owl
MONDO:0015418	biolink:NamedThing	lateral facial cleft		DOVES_relaxed.owl
MONDO:0011082	biolink:NamedThing	oculoauriculofrontonasal syndrome		DOVES_relaxed.owl
MONDO:0015464	biolink:NamedThing	craniofrontonasal dysplasia-Poland anomaly syndrome	Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.	DOVES_relaxed.owl
MONDO:0044628	biolink:NamedThing	six2-related frontonasal dysplasia		DOVES_relaxed.owl
MONDO:0007944	biolink:NamedThing	Treacher Collins syndrome 1	Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene.	DOVES_relaxed.owl
MONDO:0009558	biolink:NamedThing	Treacher Collins syndrome 3	Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.	DOVES_relaxed.owl
MONDO:0013385	biolink:NamedThing	Treacher Collins syndrome 2	Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.	DOVES_relaxed.owl
MONDO:0007637	biolink:NamedThing	corneal dystrophy, Fuchs endothelial, 1	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.	DOVES_relaxed.owl
MONDO:0012425	biolink:NamedThing	corneal dystrophy, fuchs endothelial, 2		DOVES_relaxed.owl
MONDO:0013203	biolink:NamedThing	corneal dystrophy, Fuchs endothelial, 3	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene.	DOVES_relaxed.owl
MONDO:0013204	biolink:NamedThing	corneal dystrophy, Fuchs endothelial, 4	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene.	DOVES_relaxed.owl
MONDO:0013205	biolink:NamedThing	corneal dystrophy, fuchs endothelial, 5		DOVES_relaxed.owl
MONDO:0013206	biolink:NamedThing	corneal dystrophy, Fuchs endothelial, 6	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.	DOVES_relaxed.owl
MONDO:0013207	biolink:NamedThing	corneal dystrophy, fuchs endothelial, 7		DOVES_relaxed.owl
MONDO:0014228	biolink:NamedThing	corneal dystrophy, Fuchs endothelial, 8	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene.	DOVES_relaxed.owl
MONDO:0011838	biolink:NamedThing	Bothnia retinal dystrophy	A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.	DOVES_relaxed.owl
MONDO:0007644	biolink:NamedThing	IgAD1	Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders.	DOVES_relaxed.owl
MONDO:0010019	biolink:NamedThing	secretory component deficiency		DOVES_relaxed.owl
MONDO:0012291	biolink:NamedThing	immunoglobulin A deficiency 2	Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.	DOVES_relaxed.owl
MONDO:0007648	biolink:NamedThing	hereditary diffuse gastric adenocarcinoma	An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations.	DOVES_relaxed.owl
MONDO:0018184	biolink:NamedThing	gastric linitis plastica	Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma.	DOVES_relaxed.owl
MONDO:0015617	biolink:NamedThing	genetic gastro-esophageal disease		DOVES_relaxed.owl
MONDO:0007856	biolink:NamedThing	palmoplantar keratoderma-esophageal carcinoma syndrome	An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.	DOVES_relaxed.owl
MONDO:0014331	biolink:NamedThing	Moyamoya disease with early-onset achalasia	Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.	DOVES_relaxed.owl
MONDO:0017790	biolink:NamedThing	gastric adenocarcinoma and proximal polyposis of the stomach	A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder.	DOVES_relaxed.owl
MONDO:0017599	biolink:NamedThing	splenic diffuse red pulp small B-cell lymphoma	Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism.	DOVES_relaxed.owl
MONDO:0019462	biolink:NamedThing	splenic marginal zone lymphoma	Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.	DOVES_relaxed.owl
MONDO:0019465	biolink:NamedThing	nodal marginal zone B-cell lymphoma	Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported.	DOVES_relaxed.owl
MONDO:0018009	biolink:NamedThing	non-hypoproteinemic hypertrophic gastropathy	Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.	DOVES_relaxed.owl
MONDO:0044624	biolink:NamedThing	pediatric collagenous gastritis		DOVES_relaxed.owl
MONDO:0007662	biolink:NamedThing	anterior segment dysgenesis 4	Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene.	DOVES_relaxed.owl
MONDO:0019628	biolink:NamedThing	Rieger anomaly	Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly.	DOVES_relaxed.owl
MONDO:0007663	biolink:NamedThing	glaucoma with elevated episcleral venous pressure		DOVES_relaxed.owl
MONDO:0015485	biolink:NamedThing	primary hereditary glaucoma		DOVES_relaxed.owl
MONDO:0016559	biolink:NamedThing	glaucoma secondary to spherophakia/ectopia lentis and megalocornea	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.	DOVES_relaxed.owl
MONDO:0020216	biolink:NamedThing	secondary dysgenetic glaucoma	A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma.	DOVES_relaxed.owl
MONDO:0035075	biolink:NamedThing	secondary early-onset glaucoma of genetic origin		DOVES_relaxed.owl
MONDO:0007664	biolink:NamedThing	glaucoma 1, open angle, A	Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene.	DOVES_relaxed.owl
MONDO:0012101	biolink:NamedThing	glaucoma 1, open angle, J		DOVES_relaxed.owl
MONDO:0012102	biolink:NamedThing	glaucoma 1, open angle, K		DOVES_relaxed.owl
MONDO:0012515	biolink:NamedThing	glaucoma 1, open angle, M		DOVES_relaxed.owl
MONDO:0012645	biolink:NamedThing	glaucoma 1, open angle, N		DOVES_relaxed.owl
MONDO:0800210	biolink:NamedThing	glaucoma 1, open angle, l		DOVES_relaxed.owl
MONDO:0007667	biolink:NamedThing	subependymoma	Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.	DOVES_relaxed.owl
MONDO:0007670	biolink:NamedThing	hypotrichosis-lymphedema-telangiectasia syndrome (grouping)	Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.	DOVES_relaxed.owl
MONDO:0007919	biolink:NamedThing	lymphatic malformation 1	Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene.	DOVES_relaxed.owl
MONDO:0011257	biolink:NamedThing	MPI-congenital disorder of glycosylation	MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).	DOVES_relaxed.owl
MONDO:0012765	biolink:NamedThing	lymphatic malformation 2		DOVES_relaxed.owl
MONDO:0013278	biolink:NamedThing	lymphatic malformation 3	Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene.	DOVES_relaxed.owl
MONDO:0014393	biolink:NamedThing	lymphatic malformation 4	Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.	DOVES_relaxed.owl
MONDO:0014797	biolink:NamedThing	lymphatic malformation 6		DOVES_relaxed.owl
MONDO:0015009	biolink:NamedThing	lymphatic malformation 7		DOVES_relaxed.owl
MONDO:0023662	biolink:NamedThing	lymphatic malformation 10		DOVES_relaxed.owl
MONDO:0030270	biolink:NamedThing	lymphatic malformation 9		DOVES_relaxed.owl
MONDO:0030316	biolink:NamedThing	lymphatic malformation 11		DOVES_relaxed.owl
MONDO:0031043	biolink:NamedThing	lymphatic malformation 12		DOVES_relaxed.owl
MONDO:0032907	biolink:NamedThing	lymphatic malformation 8		DOVES_relaxed.owl
MONDO:0007917	biolink:NamedThing	lymphedema-cerebral arteriovenous anomaly syndrome	Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.	DOVES_relaxed.owl
MONDO:0007921	biolink:NamedThing	yellow nail syndrome	A very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.	DOVES_relaxed.owl
MONDO:0009272	biolink:NamedThing	German syndrome	German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.	DOVES_relaxed.owl
MONDO:0009333	biolink:NamedThing	mullerian derivatives-lymphangiectasia-polydactyly syndrome	Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.	DOVES_relaxed.owl
MONDO:0011166	biolink:NamedThing	lymphedema-atrial septal defects-facial changes syndrome	Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0035473	biolink:NamedThing	warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome	A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.	DOVES_relaxed.owl
MONDO:0010290	biolink:NamedThing	goiter, multinodular 2		DOVES_relaxed.owl
MONDO:0011635	biolink:NamedThing	goiter, multinodular 3		DOVES_relaxed.owl
MONDO:0008309	biolink:NamedThing	primary release disorder of platelets		DOVES_relaxed.owl
MONDO:0008332	biolink:NamedThing	platelet-type von Willebrand disease	A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.	DOVES_relaxed.owl
MONDO:0008553	biolink:NamedThing	platelet-type bleeding disorder 17	An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.	DOVES_relaxed.owl
MONDO:0011136	biolink:NamedThing	Quebec platelet disorder	Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.	DOVES_relaxed.owl
MONDO:0014078	biolink:NamedThing	platelet-type bleeding disorder 15	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene.	DOVES_relaxed.owl
MONDO:0014518	biolink:NamedThing	platelet-type bleeding disorder 19	Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.	DOVES_relaxed.owl
MONDO:0014830	biolink:NamedThing	platelet-type bleeding disorder 20	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.	DOVES_relaxed.owl
MONDO:0030996	biolink:NamedThing	bleeding disorder, platelet-type, 24		DOVES_relaxed.owl
MONDO:0032765	biolink:NamedThing	bleeding disorder, platelet-type, 22		DOVES_relaxed.owl
MONDO:0054577	biolink:NamedThing	bleeding disorder, platelet-type, 21		DOVES_relaxed.owl
MONDO:0020117	biolink:NamedThing	alpha granule disease		DOVES_relaxed.owl
MONDO:0008557	biolink:NamedThing	Paris-Trousseau thrombocytopenia	Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.	DOVES_relaxed.owl
MONDO:0018268	biolink:NamedThing	Medich giant platelet syndrome	Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.	DOVES_relaxed.owl
MONDO:0018269	biolink:NamedThing	white platelet syndrome	White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.	DOVES_relaxed.owl
MONDO:0013352	biolink:NamedThing	intellectual disability-severe speech delay-mild dysmorphism syndrome	Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene.	DOVES_relaxed.owl
MONDO:0014210	biolink:NamedThing	intellectual disability-hypotonia-spasticity-sleep disorder syndrome		DOVES_relaxed.owl
MONDO:0014320	biolink:NamedThing	Bosch-Boonstra-Schaaf optic atrophy syndrome	Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.	DOVES_relaxed.owl
MONDO:0014358	biolink:NamedThing	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome		DOVES_relaxed.owl
MONDO:0017241	biolink:NamedThing	AP4-related intellectual disability and spastic paraplegia	A disorder that presents with spastic paraplegia and intellectual disability in which the cause of the disease is a mutation in the AP4B1 gene.	DOVES_relaxed.owl
MONDO:0017928	biolink:NamedThing	9p13 microdeletion syndrome	9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).	DOVES_relaxed.owl
MONDO:0020119	biolink:NamedThing	X-linked syndromic intellectual disability	A syndromic intellectual disability with an X-linked mode of inheritance.	DOVES_relaxed.owl
MONDO:0044322	biolink:NamedThing	intellectual developmental disorder with neuropsychiatric features	Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017}).	DOVES_relaxed.owl
MONDO:0044324	biolink:NamedThing	Al Kaissi syndrome	Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}).	DOVES_relaxed.owl
MONDO:0100147	biolink:NamedThing	SATB2 associated disorder	A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies.	DOVES_relaxed.owl
MONDO:0100195	biolink:NamedThing	X-linked intellectual disability with hypopituitarism	An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease.	DOVES_relaxed.owl
MONDO:0007691	biolink:NamedThing	Guillain-Barre syndrome, familial	A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.	DOVES_relaxed.owl
MONDO:0016493	biolink:NamedThing	variant of Guillain-Barre syndrome		DOVES_relaxed.owl
MONDO:0100169	biolink:NamedThing	polyneuropathy, inflammatory demyelinating, chronic		DOVES_relaxed.owl
MONDO:0017771	biolink:NamedThing	Mayer-Rokitansky-Kuster-Hauser syndrome	Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).	DOVES_relaxed.owl
MONDO:0007702	biolink:NamedThing	heart-hand syndrome type 3	Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.	DOVES_relaxed.owl
MONDO:0007713	biolink:NamedThing	clonic hemifacial spasm		DOVES_relaxed.owl
MONDO:0016375	biolink:NamedThing	acquired peripheral movement disorder		DOVES_relaxed.owl
MONDO:0008718	biolink:NamedThing	Morvan syndrome	Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.	DOVES_relaxed.owl
MONDO:0016373	biolink:NamedThing	isolated facial myokymia		DOVES_relaxed.owl
MONDO:0019399	biolink:NamedThing	Isaac syndrome	Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.	DOVES_relaxed.owl
MONDO:0016513	biolink:NamedThing	alpha-thalassemia-related diseases	This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).*	DOVES_relaxed.owl
MONDO:0010328	biolink:NamedThing	alpha-thalassemia-myelodysplastic syndrome	Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).	DOVES_relaxed.owl
MONDO:0007718	biolink:NamedThing	hepatic adenomas, familial		DOVES_relaxed.owl
MONDO:0007719	biolink:NamedThing	diaphragmatic hernia 1		DOVES_relaxed.owl
MONDO:0009103	biolink:NamedThing	diaphragmatic hernia 2		DOVES_relaxed.owl
MONDO:0010606	biolink:NamedThing	hernia, anterior diaphragmatic		DOVES_relaxed.owl
MONDO:0012431	biolink:NamedThing	diaphragmatic hernia 3	Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene.	DOVES_relaxed.owl
MONDO:0007723	biolink:NamedThing	Hirschsprung disease, susceptibility to, 1	An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the RET gene.	DOVES_relaxed.owl
MONDO:0010833	biolink:NamedThing	Hirschsprung disease, susceptibility to, 2	An inherited susceptibility or predisposition to developing Hirschsprung disease Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene.	DOVES_relaxed.owl
MONDO:0010834	biolink:NamedThing	Hirschsprung disease, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0011741	biolink:NamedThing	Hirschsprung disease, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0011742	biolink:NamedThing	Hirschsprung disease, susceptibility to, 7		DOVES_relaxed.owl
MONDO:0012042	biolink:NamedThing	Hirschsprung disease, susceptibility to, 8		DOVES_relaxed.owl
MONDO:0012710	biolink:NamedThing	Hirschsprung disease, susceptibility to, 9		DOVES_relaxed.owl
MONDO:0013383	biolink:NamedThing	Hirschsprung disease, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0013384	biolink:NamedThing	Hirschsprung disease, susceptibility to, 4	An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene.	DOVES_relaxed.owl
MONDO:0007726	biolink:NamedThing	hip dysplasia, Beukes type	Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.	DOVES_relaxed.owl
MONDO:0008470	biolink:NamedThing	spondyloepiphyseal dysplasia with punctate corneal dystrophy		DOVES_relaxed.owl
MONDO:0008472	biolink:NamedThing	spondyloepiphyseal dysplasia, MacDermot type	Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.	DOVES_relaxed.owl
MONDO:0008827	biolink:NamedThing	progressive pseudorheumatoid arthropathy of childhood	Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.	DOVES_relaxed.owl
MONDO:0008975	biolink:NamedThing	otospondylomegaepiphyseal dysplasia	An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.	DOVES_relaxed.owl
MONDO:0009139	biolink:NamedThing	dyssegmental dysplasia, Rolland-Desbuquois type		DOVES_relaxed.owl
MONDO:0009140	biolink:NamedThing	Silverman-Handmaker type dyssegmental dysplasia	Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.	DOVES_relaxed.owl
MONDO:0009458	biolink:NamedThing	Schimke immuno-osseous dysplasia	A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.	DOVES_relaxed.owl
MONDO:0010248	biolink:NamedThing	X-linked spondyloepimetaphyseal dysplasia	X-linked form of spondyloepimetaphyseal dysplasia.	DOVES_relaxed.owl
MONDO:0010902	biolink:NamedThing	spondyloepiphyseal dysplasia, Reardon type	Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.	DOVES_relaxed.owl
MONDO:0011018	biolink:NamedThing	brachyolmia-amelogenesis imperfecta syndrome	An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.	DOVES_relaxed.owl
MONDO:0011773	biolink:NamedThing	anauxetic dysplasia	A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.	DOVES_relaxed.owl
MONDO:0012019	biolink:NamedThing	spondyloepiphyseal dysplasia, Kimberley type	Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.	DOVES_relaxed.owl
MONDO:0012716	biolink:NamedThing	spondyloepiphyseal dysplasia, Cantu type	Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).	DOVES_relaxed.owl
MONDO:0012873	biolink:NamedThing	Ehlers-Danlos syndrome, spondylocheirodysplastic type	Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.	DOVES_relaxed.owl
MONDO:0013232	biolink:NamedThing	brachydactylous dwarfism, Mseleni type	Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.	DOVES_relaxed.owl
MONDO:0014061	biolink:NamedThing	Steel syndrome	A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.	DOVES_relaxed.owl
MONDO:0015799	biolink:NamedThing	Smith-McCort dysplasia	Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.	DOVES_relaxed.owl
MONDO:0019667	biolink:NamedThing	spondyloepiphyseal dysplasia tarda	Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.	DOVES_relaxed.owl
MONDO:0032721	biolink:NamedThing	spondyloepiphyseal dysplasia, kondo-fu type		DOVES_relaxed.owl
MONDO:0032835	biolink:NamedThing	spondyloepiphyseal dysplasia, nishimura type		DOVES_relaxed.owl
MONDO:0044312	biolink:NamedThing	immunoskeletal dysplasia with neurodevelopmental abnormalities		DOVES_relaxed.owl
MONDO:0850099	biolink:NamedThing	MIR140-related spondyloepiphyseal dysplasia		DOVES_relaxed.owl
MONDO:0010803	biolink:NamedThing	Eiken syndrome	Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.	DOVES_relaxed.owl
MONDO:0015678	biolink:NamedThing	dysplasia of head of femur, Meyer type	Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.	DOVES_relaxed.owl
MONDO:0014472	biolink:NamedThing	periodic fever-infantile enterocolitis-autoinflammatory syndrome		DOVES_relaxed.owl
MONDO:0017708	biolink:NamedThing	mevalonate kinase deficiency		DOVES_relaxed.owl
MONDO:0007728	biolink:NamedThing	acne inversa, familial, 1	Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene.	DOVES_relaxed.owl
MONDO:0013397	biolink:NamedThing	acne inversa, familial, 2	Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene.	DOVES_relaxed.owl
MONDO:0013398	biolink:NamedThing	acne inversa, familial, 3	Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene.	DOVES_relaxed.owl
MONDO:0007729	biolink:NamedThing	developmental dysplasia of the hip 1		DOVES_relaxed.owl
MONDO:0014277	biolink:NamedThing	developmental dysplasia of the hip 2		DOVES_relaxed.owl
MONDO:0007733	biolink:NamedThing	holoprosencephaly 3	Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.	DOVES_relaxed.owl
MONDO:0007734	biolink:NamedThing	holoprosencephaly 4	A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.	DOVES_relaxed.owl
MONDO:0007999	biolink:NamedThing	holoprosencephaly 2	A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.	DOVES_relaxed.owl
MONDO:0009349	biolink:NamedThing	holoprosencephaly 1	The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.	DOVES_relaxed.owl
MONDO:0011616	biolink:NamedThing	holoprosencephaly 6	A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3.	DOVES_relaxed.owl
MONDO:0012267	biolink:NamedThing	holoprosencephaly 8	A holoprosencephaly that has material basis in variation in the chromosome region 14q13.	DOVES_relaxed.owl
MONDO:0012562	biolink:NamedThing	holoprosencephaly 7	Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene.	DOVES_relaxed.owl
MONDO:0012927	biolink:NamedThing	chromosome 1q41-q42 deletion syndrome	1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.	DOVES_relaxed.owl
MONDO:0013642	biolink:NamedThing	holoprosencephaly 11	Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene.	DOVES_relaxed.owl
MONDO:0016355	biolink:NamedThing	semilobar holoprosencephaly	Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.	DOVES_relaxed.owl
MONDO:0017218	biolink:NamedThing	septopreoptic holoprosencephaly	Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.	DOVES_relaxed.owl
MONDO:0019756	biolink:NamedThing	lobar holoprosencephaly	Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.	DOVES_relaxed.owl
MONDO:0019757	biolink:NamedThing	alobar holoprosencephaly	Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.	DOVES_relaxed.owl
MONDO:0019758	biolink:NamedThing	midline interhemispheric variant of holoprosencephaly	Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.	DOVES_relaxed.owl
MONDO:0030886	biolink:NamedThing	holoprosencephaly 14		DOVES_relaxed.owl
MONDO:0032787	biolink:NamedThing	holoprosencephaly 12 with or without pancreatic agenesis		DOVES_relaxed.owl
MONDO:0010966	biolink:NamedThing	achondrogenesis type IB	Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.	DOVES_relaxed.owl
MONDO:0013561	biolink:NamedThing	chondrodysplasia with joint dislocations, gPAPP type		DOVES_relaxed.owl
MONDO:0014236	biolink:NamedThing	Ehlers-Danlos syndrome, musculocontractural type 2	Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene.	DOVES_relaxed.owl
MONDO:0019666	biolink:NamedThing	spondyloepimetaphyseal dysplasia, PAPSS2 type	A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.	DOVES_relaxed.owl
MONDO:0020681	biolink:NamedThing	Ehlers-Danlos syndrome, musculocontractural type 1		DOVES_relaxed.owl
MONDO:0007740	biolink:NamedThing	Wagner disease	Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.	DOVES_relaxed.owl
MONDO:0008662	biolink:NamedThing	autosomal dominant vitreoretinochoroidopathy	Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.	DOVES_relaxed.owl
MONDO:0008663	biolink:NamedThing	snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.	DOVES_relaxed.owl
MONDO:0100288	biolink:NamedThing	enhanced S-cone syndrome	An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.	DOVES_relaxed.owl
MONDO:0100289	biolink:NamedThing	Goldmann-Favre syndrome	A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).	DOVES_relaxed.owl
MONDO:0100450	biolink:NamedThing	CAPN5-related vitreoretinopathy	An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.	DOVES_relaxed.owl
MONDO:0800166	biolink:NamedThing	Knobloch syndrome		DOVES_relaxed.owl
MONDO:0007741	biolink:NamedThing	congenital hydronephrosis	Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.	DOVES_relaxed.owl
MONDO:0016407	biolink:NamedThing	oligomeganephronia	Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.	DOVES_relaxed.owl
MONDO:0016529	biolink:NamedThing	duplication of urethra	Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.	DOVES_relaxed.owl
MONDO:0016548	biolink:NamedThing	megacystis-megaureter syndrome	Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.	DOVES_relaxed.owl
MONDO:0017609	biolink:NamedThing	renal tubular dysgenesis	Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0018565	biolink:NamedThing	congenital urachal anomaly	Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum.	DOVES_relaxed.owl
MONDO:0018960	biolink:NamedThing	congenital primary megaureter	An idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.	DOVES_relaxed.owl
MONDO:0019637	biolink:NamedThing	renal hypoplasia	Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.	DOVES_relaxed.owl
MONDO:0019638	biolink:NamedThing	renal dysplasia	Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.	DOVES_relaxed.owl
MONDO:0019639	biolink:NamedThing	congenital megacalycosis	Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.	DOVES_relaxed.owl
MONDO:0007744	biolink:NamedThing	cholesterol-ester transfer protein deficiency		DOVES_relaxed.owl
MONDO:0013533	biolink:NamedThing	hyperlipidemia due to hepatic triglyceride lipase deficiency	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.	DOVES_relaxed.owl
MONDO:0009379	biolink:NamedThing	Rotor syndrome	Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.	DOVES_relaxed.owl
MONDO:0009381	biolink:NamedThing	hyperbilirubinemia, conjugated, type 3		DOVES_relaxed.owl
MONDO:0009382	biolink:NamedThing	hyperbilirubinemia, shunt, primary		DOVES_relaxed.owl
MONDO:0007748	biolink:NamedThing	hypercalciuria, absorptive, 2		DOVES_relaxed.owl
MONDO:0011802	biolink:NamedThing	hypercalciuria, absorptive, 1		DOVES_relaxed.owl
MONDO:0007750	biolink:NamedThing	hypercholesterolemia, familial, 1		DOVES_relaxed.owl
MONDO:0007751	biolink:NamedThing	hypercholesterolemia, autosomal dominant, type B		DOVES_relaxed.owl
MONDO:0011369	biolink:NamedThing	hypercholesterolemia, autosomal dominant, 3	Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.	DOVES_relaxed.owl
MONDO:0016203	biolink:NamedThing	hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		DOVES_relaxed.owl
MONDO:0018328	biolink:NamedThing	homozygous familial hypercholesterolemia		DOVES_relaxed.owl
MONDO:0007758	biolink:NamedThing	epidermolytic palmoplantar keratoderma	A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.	DOVES_relaxed.owl
MONDO:0010849	biolink:NamedThing	palmoplantar keratoderma, Bothnian type		DOVES_relaxed.owl
MONDO:0010962	biolink:NamedThing	diffuse nonepidermolytic palmoplantar keratoderma	A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.	DOVES_relaxed.owl
MONDO:0018250	biolink:NamedThing	diffuse palmoplantar keratoderma with painful fissures		DOVES_relaxed.owl
MONDO:0018853	biolink:NamedThing	transgrediens et progrediens palmoplantar keratoderma		DOVES_relaxed.owl
MONDO:0007771	biolink:NamedThing	hyperpigmentation with or without hypopigmentation, familial progressive		DOVES_relaxed.owl
MONDO:0007772	biolink:NamedThing	pseudohypoaldosteronism type 2A		DOVES_relaxed.owl
MONDO:0013777	biolink:NamedThing	pseudohypoaldosteronism type 2B	Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene.	DOVES_relaxed.owl
MONDO:0013778	biolink:NamedThing	pseudohypoaldosteronism type 2C	Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene.	DOVES_relaxed.owl
MONDO:0013781	biolink:NamedThing	pseudohypoaldosteronism type 2D	Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene.	DOVES_relaxed.owl
MONDO:0013782	biolink:NamedThing	pseudohypoaldosteronism type 2E	Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene.	DOVES_relaxed.owl
MONDO:0010222	biolink:NamedThing	X-linked Opitz G/BBB syndrome	X-linked form of Opitz G/BBB syndrome.	DOVES_relaxed.owl
MONDO:0007783	biolink:NamedThing	malignant hyperthermia, susceptibility to, 1	Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene.	DOVES_relaxed.owl
MONDO:0007939	biolink:NamedThing	malignant hyperthermia, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0007940	biolink:NamedThing	malignant hyperthermia, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0010893	biolink:NamedThing	malignant hyperthermia, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0011163	biolink:NamedThing	malignant hyperthermia, susceptibility to, 5	Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene.	DOVES_relaxed.owl
MONDO:0011164	biolink:NamedThing	malignant hyperthermia, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0034217	biolink:NamedThing	resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta		DOVES_relaxed.owl
MONDO:0008569	biolink:NamedThing	thyroid hormone resistance, generalized, autosomal dominant		DOVES_relaxed.owl
MONDO:0010131	biolink:NamedThing	thyroid hormone resistance, generalized, autosomal recessive	A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.	DOVES_relaxed.owl
MONDO:0036045	biolink:NamedThing	euthyroid dysprealbuminemic hyperthyroxinemia		DOVES_relaxed.owl
MONDO:0007787	biolink:NamedThing	Ambras type hypertrichosis universalis congenita	Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.	DOVES_relaxed.owl
MONDO:0010614	biolink:NamedThing	X-linked congenital generalized hypertrichosis	X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.	DOVES_relaxed.owl
MONDO:0007792	biolink:NamedThing	familial hypocalciuric hypercalcemia 2	A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.	DOVES_relaxed.owl
MONDO:0010926	biolink:NamedThing	familial hypocalciuric hypercalcemia 3	Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.	DOVES_relaxed.owl
MONDO:0013926	biolink:NamedThing	hypogonadotropic hypogonadism 14 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene.	DOVES_relaxed.owl
MONDO:0014102	biolink:NamedThing	hypogonadotropic hypogonadism 17 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene.	DOVES_relaxed.owl
MONDO:0014103	biolink:NamedThing	hypogonadotropic hypogonadism 18 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene.	DOVES_relaxed.owl
MONDO:0014105	biolink:NamedThing	hypogonadotropic hypogonadism 19 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene.	DOVES_relaxed.owl
MONDO:0014106	biolink:NamedThing	hypogonadotropic hypogonadism 20 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene.	DOVES_relaxed.owl
MONDO:0014107	biolink:NamedThing	hypogonadotropic hypogonadism 21 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene.	DOVES_relaxed.owl
MONDO:0014461	biolink:NamedThing	hypogonadotropic hypogonadism 22 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene.	DOVES_relaxed.owl
MONDO:0007796	biolink:NamedThing	hypoparathyroidism, familial isolated 1		DOVES_relaxed.owl
MONDO:0020798	biolink:NamedThing	hypoparathyroidism, familial isolated, 2		DOVES_relaxed.owl
MONDO:0016892	biolink:NamedThing	partial deletion of the short arm of chromosome 10		DOVES_relaxed.owl
MONDO:0017283	biolink:NamedThing	DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion		DOVES_relaxed.owl
MONDO:0016880	biolink:NamedThing	partial deletion of chromosome 18		DOVES_relaxed.owl
MONDO:0007802	biolink:NamedThing	hypospadias 3, autosomal		DOVES_relaxed.owl
MONDO:0010384	biolink:NamedThing	hypospadias 1, X-linked		DOVES_relaxed.owl
MONDO:0010423	biolink:NamedThing	hypospadias 2, X-linked		DOVES_relaxed.owl
MONDO:0010458	biolink:NamedThing	hypospadias 4, X-linked		DOVES_relaxed.owl
MONDO:0035821	biolink:NamedThing	isolated female hypospadias		DOVES_relaxed.owl
MONDO:0008199	biolink:NamedThing	late-onset Parkinson disease	A Parkinson disease that begins after around the age of 50.	DOVES_relaxed.owl
MONDO:0009648	biolink:NamedThing	peripheral motor neuropathy-dysautonomia syndrome	Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0018762	biolink:NamedThing	non-acquired combined pituitary hormone deficiency	Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.	DOVES_relaxed.owl
MONDO:0017407	biolink:NamedThing	deficiency in anterior pituitary function - variable immunodeficiency syndrome		DOVES_relaxed.owl
MONDO:0024304	biolink:NamedThing	ichthyosis vulgaris	The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.	DOVES_relaxed.owl
MONDO:0007812	biolink:NamedThing	ichthyosis, lamellar, autosomal dominant		DOVES_relaxed.owl
MONDO:0011026	biolink:NamedThing	autosomal recessive congenital ichthyosis 4A	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.	DOVES_relaxed.owl
MONDO:0011485	biolink:NamedThing	autosomal recessive congenital ichthyosis 5	An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.	DOVES_relaxed.owl
MONDO:0011680	biolink:NamedThing	autosomal recessive congenital ichthyosis 3	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene.	DOVES_relaxed.owl
MONDO:0012847	biolink:NamedThing	autosomal recessive congenital ichthyosis 6	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene.	DOVES_relaxed.owl
MONDO:0013495	biolink:NamedThing	autosomal recessive congenital ichthyosis 8	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene.	DOVES_relaxed.owl
MONDO:0017339	biolink:NamedThing	exfoliative ichthyosis	Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.	DOVES_relaxed.owl
MONDO:0011937	biolink:NamedThing	peeling skin syndrome 4	Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene.	DOVES_relaxed.owl
MONDO:0014923	biolink:NamedThing	peeling skin syndrome 5	Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene.	DOVES_relaxed.owl
MONDO:0007814	biolink:NamedThing	immune deficiency, familial variable		DOVES_relaxed.owl
MONDO:0009413	biolink:NamedThing	immunodeficiency, common variable, 2		DOVES_relaxed.owl
MONDO:0011864	biolink:NamedThing	immunodeficiency, common variable, 1		DOVES_relaxed.owl
MONDO:0013283	biolink:NamedThing	immunodeficiency, common variable, 3		DOVES_relaxed.owl
MONDO:0013284	biolink:NamedThing	immunodeficiency, common variable, 4		DOVES_relaxed.owl
MONDO:0013285	biolink:NamedThing	immunodeficiency, common variable, 5	Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene.	DOVES_relaxed.owl
MONDO:0013286	biolink:NamedThing	immunodeficiency, common variable, 6	Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.	DOVES_relaxed.owl
MONDO:0013862	biolink:NamedThing	immunodeficiency, common variable, 7		DOVES_relaxed.owl
MONDO:0013863	biolink:NamedThing	combined immunodeficiency due to LRBA deficiency		DOVES_relaxed.owl
MONDO:0014260	biolink:NamedThing	immunodeficiency, common variable, 10	Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene.	DOVES_relaxed.owl
MONDO:0014338	biolink:NamedThing	IL21-related infantile inflammatory bowel disease		DOVES_relaxed.owl
MONDO:0014697	biolink:NamedThing	immunodeficiency, common variable, 12	Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene.	DOVES_relaxed.owl
MONDO:0014810	biolink:NamedThing	pancytopenia due to IKZF1 mutations	Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.	DOVES_relaxed.owl
MONDO:0054691	biolink:NamedThing	immunodeficiency, common variable, 14		DOVES_relaxed.owl
MONDO:0800149	biolink:NamedThing	immunodeficiency, common variable, due to APRIL deficiency	Any commonn variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFS13 gene.	DOVES_relaxed.owl
MONDO:0009478	biolink:NamedThing	combined immunodeficiency due to DOCK8 deficiency	Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).	DOVES_relaxed.owl
MONDO:0030069	biolink:NamedThing	hyper-IgE recurrent infection syndrome 5, autosomal recessive		DOVES_relaxed.owl
MONDO:0030681	biolink:NamedThing	immunodeficiency 94 with autoinflammation and dysmorphic facies		DOVES_relaxed.owl
MONDO:0032654	biolink:NamedThing	hyper-IgE recurrent infection syndrome 3, autosomal recessive		DOVES_relaxed.owl
MONDO:0032796	biolink:NamedThing	hyper-IgE recurrent infection syndrome 4, autosomal recessive		DOVES_relaxed.owl
MONDO:0800131	biolink:NamedThing	hyper-IgE recurrent infection syndrome 4A, autosomal dominant	An immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 and IL11 signaling.	DOVES_relaxed.owl
MONDO:0007819	biolink:NamedThing	solitary median maxillary central incisor syndrome	A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified.	DOVES_relaxed.owl
MONDO:0017219	biolink:NamedThing	microform holoprosencephaly	Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage.	DOVES_relaxed.owl
MONDO:0012322	biolink:NamedThing	holoprosencephaly 5	Holoprosencephaly associated with mutations in the ZIC2 gene.	DOVES_relaxed.owl
MONDO:0012563	biolink:NamedThing	holoprosencephaly 9	Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.	DOVES_relaxed.owl
MONDO:0007829	biolink:NamedThing	cholestasis, intrahepatic, of pregnancy, 1		DOVES_relaxed.owl
MONDO:0100429	biolink:NamedThing	intrahepatic cholestasis of pregnancy	A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.	DOVES_relaxed.owl
MONDO:0013995	biolink:NamedThing	cholestasis, intrahepatic, of pregnancy, 3		DOVES_relaxed.owl
MONDO:0016910	biolink:NamedThing	partial deletion of the long arm of chromosome 11	A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11.	DOVES_relaxed.owl
MONDO:0020494	biolink:NamedThing	oculootodental syndrome	Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.	DOVES_relaxed.owl
MONDO:0018795	biolink:NamedThing	syndromic constitutional thrombocytopenia		DOVES_relaxed.owl
MONDO:0008495	biolink:NamedThing	platelet storage pool deficiency	Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.	DOVES_relaxed.owl
MONDO:0008497	biolink:NamedThing	Stormorken syndrome	Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.	DOVES_relaxed.owl
MONDO:0016360	biolink:NamedThing	marcothrombocytopenia with mitral valve insufficiency	Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.	DOVES_relaxed.owl
MONDO:0020118	biolink:NamedThing	dense granule disease		DOVES_relaxed.owl
MONDO:0044635	biolink:NamedThing	diaph1-related sensorineural hearing loss-thrombocytopenia syndrome		DOVES_relaxed.owl
MONDO:0100433	biolink:NamedThing	ACTB-associated syndromic thrombocytopenia	A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.	DOVES_relaxed.owl
MONDO:0007841	biolink:NamedThing	coxopodopatellar syndrome	Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.	DOVES_relaxed.owl
MONDO:0008205	biolink:NamedThing	patella aplasia/hypoplasia	Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.	DOVES_relaxed.owl
MONDO:0008207	biolink:NamedThing	chondromalacia patellae	Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission.	DOVES_relaxed.owl
MONDO:0017383	biolink:NamedThing	familial clubfoot due to PITX1 point mutation		DOVES_relaxed.owl
MONDO:0007843	biolink:NamedThing	Kabuki syndrome 1		DOVES_relaxed.owl
MONDO:0010465	biolink:NamedThing	Kabuki syndrome 2		DOVES_relaxed.owl
MONDO:0007844	biolink:NamedThing	hypogonadotropic hypogonadism 2 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene.	DOVES_relaxed.owl
MONDO:0009482	biolink:NamedThing	hypogonadotropic hypogonadism 3 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene.	DOVES_relaxed.owl
MONDO:0010635	biolink:NamedThing	hypogonadotropic hypogonadism 1 with or without anosmia	The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3.	DOVES_relaxed.owl
MONDO:0012528	biolink:NamedThing	hypogonadotropic hypogonadism 4 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene.	DOVES_relaxed.owl
MONDO:0012880	biolink:NamedThing	hypogonadotropic hypogonadism 5 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene.	DOVES_relaxed.owl
MONDO:0012988	biolink:NamedThing	hypogonadotropic hypogonadism 6 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.	DOVES_relaxed.owl
MONDO:0013910	biolink:NamedThing	hypogonadotropic hypogonadism 8 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene.	DOVES_relaxed.owl
MONDO:0013911	biolink:NamedThing	hypogonadotropic hypogonadism 9 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene.	DOVES_relaxed.owl
MONDO:0013913	biolink:NamedThing	hypogonadotropic hypogonadism 11 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene.	DOVES_relaxed.owl
MONDO:0013946	biolink:NamedThing	hypogonadotropic hypogonadism 15 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene.	DOVES_relaxed.owl
MONDO:0013961	biolink:NamedThing	hypogonadotropic hypogonadism 16 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene.	DOVES_relaxed.owl
MONDO:0009440	biolink:NamedThing	ichthyosiform erythroderma, corneal involvement, and hearing loss		DOVES_relaxed.owl
MONDO:0011245	biolink:NamedThing	ichthyosis, hystrix-like, with hearing loss		DOVES_relaxed.owl
MONDO:0017672	biolink:NamedThing	focal palmoplantar keratoderma		DOVES_relaxed.owl
MONDO:0007860	biolink:NamedThing	focal palmoplantar and gingival keratoderma	Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.	DOVES_relaxed.owl
MONDO:0014492	biolink:NamedThing	woolly hair-palmoplantar keratoderma syndrome	Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.	DOVES_relaxed.owl
MONDO:0016471	biolink:NamedThing	pachyonychia congenita	Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.	DOVES_relaxed.owl
MONDO:0007858	biolink:NamedThing	palmoplantar keratoderma, punctate type 1A	Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene.	DOVES_relaxed.owl
MONDO:0019332	biolink:NamedThing	punctate palmoplantar keratoderma type 1	Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..	DOVES_relaxed.owl
MONDO:0013980	biolink:NamedThing	palmoplantar keratoderma, punctate type ib		DOVES_relaxed.owl
MONDO:0007859	biolink:NamedThing	palmoplantar keratoderma i, striate, focal, or diffuse		DOVES_relaxed.owl
MONDO:0014327	biolink:NamedThing	palmoplantar keratoderma, nonepidermolytic, focal or diffuse		DOVES_relaxed.owl
MONDO:0017675	biolink:NamedThing	punctate palmoplantar keratoderma	A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.	DOVES_relaxed.owl
MONDO:0007861	biolink:NamedThing	isolated cloverleaf skull syndrome	Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.	DOVES_relaxed.owl
MONDO:0015337	biolink:NamedThing	isolated craniosynostosis	A craniosynostosis that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0017984	biolink:NamedThing	familial lambdoid synostosis	Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.	DOVES_relaxed.owl
MONDO:0850072	biolink:NamedThing	non-syndromic unisutural craniosynostosis		DOVES_relaxed.owl
MONDO:0007862	biolink:NamedThing	Waardenburg syndrome type 3	Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.	DOVES_relaxed.owl
MONDO:0008670	biolink:NamedThing	Waardenburg syndrome type 1	Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.	DOVES_relaxed.owl
MONDO:0019517	biolink:NamedThing	Waardenburg syndrome type 2	Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.	DOVES_relaxed.owl
MONDO:0030983	biolink:NamedThing	Waardenburg syndrome, IIa 2F		DOVES_relaxed.owl
MONDO:0007868	biolink:NamedThing	hyperekplexia 1	A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.	DOVES_relaxed.owl
MONDO:0021022	biolink:NamedThing	hereditary hyperekplexia	Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	DOVES_relaxed.owl
MONDO:0010375	biolink:NamedThing	developmental and epileptic encephalopathy, 8		DOVES_relaxed.owl
MONDO:0013827	biolink:NamedThing	hyperekplexia 3	Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.	DOVES_relaxed.owl
MONDO:0013828	biolink:NamedThing	hyperekplexia 2	Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene.	DOVES_relaxed.owl
MONDO:0044330	biolink:NamedThing	hyperekplexia 4	Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400).	DOVES_relaxed.owl
MONDO:0008138	biolink:NamedThing	syndromic orbital border hypoplasia	Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.	DOVES_relaxed.owl
MONDO:0008397	biolink:NamedThing	aplasia of lacrimal and salivary glands	Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.	DOVES_relaxed.owl
MONDO:0016907	biolink:NamedThing	partial deletion of the long arm of chromosome 8	Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0010852	biolink:NamedThing	chromosome 8Q12.1-q21.2 deletion syndrome		DOVES_relaxed.owl
MONDO:0015314	biolink:NamedThing	primary laryngeal lymphangioma	Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.	DOVES_relaxed.owl
MONDO:0015396	biolink:NamedThing	congenital laryngeal cyst	Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.	DOVES_relaxed.owl
MONDO:0016530	biolink:NamedThing	laryngocele	A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck.	DOVES_relaxed.owl
MONDO:0008142	biolink:NamedThing	Thiemann disease, familial form	Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.	DOVES_relaxed.owl
MONDO:0008410	biolink:NamedThing	Scheuermann disease	A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood.	DOVES_relaxed.owl
MONDO:0010130	biolink:NamedThing	dihydropyrimidine dehydrogenase deficiency	Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0007887	biolink:NamedThing	leiomyoma of vulva and esophagus		DOVES_relaxed.owl
MONDO:0010641	biolink:NamedThing	X-linked diffuse leiomyomatosis-Alport syndrome	The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.	DOVES_relaxed.owl
MONDO:0010801	biolink:NamedThing	spondylocamptodactyly syndrome	Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.	DOVES_relaxed.owl
MONDO:0800080	biolink:NamedThing	severe spondylodysplastic dysplasia	An instance of spondylodysplastic dysplasia that has a high degree of severity.	DOVES_relaxed.owl
MONDO:0016769	biolink:NamedThing	linear lichen planus	Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.	DOVES_relaxed.owl
MONDO:0016770	biolink:NamedThing	actinic lichen planus	Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.	DOVES_relaxed.owl
MONDO:0016771	biolink:NamedThing	annular atrophic lichen planus	Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.	DOVES_relaxed.owl
MONDO:0016772	biolink:NamedThing	annular lichen planus	Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions.	DOVES_relaxed.owl
MONDO:0016773	biolink:NamedThing	atrophic lichen planus	Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center.	DOVES_relaxed.owl
MONDO:0016774	biolink:NamedThing	lichen planus pigmentosus	Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.	DOVES_relaxed.owl
MONDO:0016775	biolink:NamedThing	lichen planus pemphigoides	Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid.	DOVES_relaxed.owl
MONDO:0018056	biolink:NamedThing	bullous lichen planus	Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions.	DOVES_relaxed.owl
MONDO:0021377	biolink:NamedThing	hypertrophic lichen planus	A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring.	DOVES_relaxed.owl
MONDO:0007903	biolink:NamedThing	Li-Fraumeni syndrome 1	Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the TP53 gene.	DOVES_relaxed.owl
MONDO:0012233	biolink:NamedThing	Li-Fraumeni syndrome 2	Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene.	DOVES_relaxed.owl
MONDO:0008311	biolink:NamedThing	progeria-short stature-pigmented nevi syndrome	Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.	DOVES_relaxed.owl
MONDO:0010457	biolink:NamedThing	Ogden syndrome	Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.	DOVES_relaxed.owl
MONDO:0011150	biolink:NamedThing	acroosteolysis-keloid-like lesions-premature aging syndrome		DOVES_relaxed.owl
MONDO:0014157	biolink:NamedThing	mandibular hypoplasia-deafness-progeroid syndrome		DOVES_relaxed.owl
MONDO:0019321	biolink:NamedThing	atypical Werner syndrome	A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.	DOVES_relaxed.owl
MONDO:0011448	biolink:NamedThing	PPARG-related familial partial lipodystrophy		DOVES_relaxed.owl
MONDO:0012072	biolink:NamedThing	familial partial lipodystrophy, Kobberling type	Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.	DOVES_relaxed.owl
MONDO:0013478	biolink:NamedThing	PLIN1-related familial partial lipodystrophy		DOVES_relaxed.owl
MONDO:0014098	biolink:NamedThing	CIDEC-related familial partial lipodystrophy		DOVES_relaxed.owl
MONDO:0014431	biolink:NamedThing	LIPE-related familial partial lipodystrophy		DOVES_relaxed.owl
MONDO:0017230	biolink:NamedThing	autosomal semi-dominant severe lipodystrophic laminopathy		DOVES_relaxed.owl
MONDO:0019192	biolink:NamedThing	AKT2-related familial partial lipodystrophy		DOVES_relaxed.owl
MONDO:0007916	biolink:NamedThing	primary intestinal lymphangiectasia	Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children.	DOVES_relaxed.owl
MONDO:0019574	biolink:NamedThing	secondary intestinal lymphangiectasia	Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions.	DOVES_relaxed.owl
MONDO:0010334	biolink:NamedThing	severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).	DOVES_relaxed.owl
MONDO:0020065	biolink:NamedThing	combined dystonia	A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism).	DOVES_relaxed.owl
MONDO:0025691	biolink:NamedThing	dystonia 30		DOVES_relaxed.owl
MONDO:0030455	biolink:NamedThing	dystonia 31		DOVES_relaxed.owl
MONDO:0030486	biolink:NamedThing	dystonia 32		DOVES_relaxed.owl
MONDO:0030513	biolink:NamedThing	dystonia 33		DOVES_relaxed.owl
MONDO:0030538	biolink:NamedThing	dystonia 34, myoclonic		DOVES_relaxed.owl
MONDO:0030958	biolink:NamedThing	dystonia 35, childhood-onset		DOVES_relaxed.owl
MONDO:0044816	biolink:NamedThing	familial idiopathic torsion dystonia	An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0008829	biolink:NamedThing	chylous ascites	Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.	DOVES_relaxed.owl
MONDO:0035472	biolink:NamedThing	GJC2-related late-onset primary lymphedema	A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.	DOVES_relaxed.owl
MONDO:0035474	biolink:NamedThing	PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis	A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.	DOVES_relaxed.owl
MONDO:0035475	biolink:NamedThing	EPHB4-related lymphatic-related hydrops fetalis	A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.	DOVES_relaxed.owl
MONDO:0035499	biolink:NamedThing	CELSR1-related late-onset primary lymphedema	A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.	DOVES_relaxed.owl
MONDO:0035500	biolink:NamedThing	congenital primary lymphedema of Gordon	A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.	DOVES_relaxed.owl
MONDO:0008278	biolink:NamedThing	juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		DOVES_relaxed.owl
MONDO:0011023	biolink:NamedThing	hereditary mixed polyposis syndrome	Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.	DOVES_relaxed.owl
MONDO:0015524	biolink:NamedThing	hyperplastic polyposis syndrome	Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.	DOVES_relaxed.owl
MONDO:0017380	biolink:NamedThing	juvenile polyposis syndrome	Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.	DOVES_relaxed.owl
MONDO:0016904	biolink:NamedThing	partial deletion of the long arm of chromosome 5		DOVES_relaxed.owl
MONDO:0015571	biolink:NamedThing	deletion 5q35	Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.	DOVES_relaxed.owl
MONDO:0016860	biolink:NamedThing	familial adenomatous polyposis due to 5q22.2 microdeletion		DOVES_relaxed.owl
MONDO:0017811	biolink:NamedThing	severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion		DOVES_relaxed.owl
MONDO:0007927	biolink:NamedThing	congenital macroglossia		DOVES_relaxed.owl
MONDO:0007930	biolink:NamedThing	Bernard-Soulier syndrome, type A2, autosomal dominant	A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p.	DOVES_relaxed.owl
MONDO:0007931	biolink:NamedThing	vitelliform macular dystrophy 2	Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.	DOVES_relaxed.owl
MONDO:0011979	biolink:NamedThing	adult-onset foveomacular vitelliform dystrophy	Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.	DOVES_relaxed.owl
MONDO:0007933	biolink:NamedThing	vitelliform macular dystrophy 1		DOVES_relaxed.owl
MONDO:0014508	biolink:NamedThing	vitelliform macular dystrophy 4	Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene.	DOVES_relaxed.owl
MONDO:0014509	biolink:NamedThing	vitelliform macular dystrophy 5	Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene.	DOVES_relaxed.owl
MONDO:0024561	biolink:NamedThing	vitelliform macular dystrophy 3	Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.	DOVES_relaxed.owl
MONDO:0007935	biolink:NamedThing	cystoid macular edema	An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis.	DOVES_relaxed.owl
MONDO:0007937	biolink:NamedThing	renal hypomagnesemia 2	Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.	DOVES_relaxed.owl
MONDO:0017625	biolink:NamedThing	familial primary hypomagnesemia with hypocalcuria		DOVES_relaxed.owl
MONDO:0007938	biolink:NamedThing	46,XY sex reversal 4	Sex reversal in an individual associated with a 9p24.3 deletion.	DOVES_relaxed.owl
MONDO:0009301	biolink:NamedThing	46,XY sex reversal 7		DOVES_relaxed.owl
MONDO:0010226	biolink:NamedThing	46,XY sex reversal 2		DOVES_relaxed.owl
MONDO:0011766	biolink:NamedThing	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome		DOVES_relaxed.owl
MONDO:0013066	biolink:NamedThing	46,XY sex reversal 3		DOVES_relaxed.owl
MONDO:0013120	biolink:NamedThing	46,XY sex reversal 5		DOVES_relaxed.owl
MONDO:0013410	biolink:NamedThing	46,XY sex reversal 6		DOVES_relaxed.owl
MONDO:0013664	biolink:NamedThing	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency		DOVES_relaxed.owl
MONDO:0014480	biolink:NamedThing	46,XY sex reversal 9		DOVES_relaxed.owl
MONDO:0014634	biolink:NamedThing	46,XY sex reversal 10		DOVES_relaxed.owl
MONDO:0020712	biolink:NamedThing	46,XY sex reversal 1		DOVES_relaxed.owl
MONDO:8000015	biolink:NamedThing	46,XY sex reversal 11	Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene.	DOVES_relaxed.owl
MONDO:0014239	biolink:NamedThing	testicular anomalies with or without congenital heart disease		DOVES_relaxed.owl
MONDO:0030067	biolink:NamedThing	Treacher Collins syndrome 4		DOVES_relaxed.owl
MONDO:0009226	biolink:NamedThing	fibrochondrogenesis 1	Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.	DOVES_relaxed.owl
MONDO:0013795	biolink:NamedThing	fibrochondrogenesis 2	Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene.	DOVES_relaxed.owl
MONDO:0044206	biolink:NamedThing	otospondylomegaepiphyseal dysplasia, autosomal recessive		DOVES_relaxed.owl
MONDO:0015756	biolink:NamedThing	myeloid hemopathy		DOVES_relaxed.owl
MONDO:0033954	biolink:NamedThing	monoclonal mast cell activation syndrome		DOVES_relaxed.owl
MONDO:0007961	biolink:NamedThing	megalencephaly, autosomal dominant		DOVES_relaxed.owl
MONDO:0009544	biolink:NamedThing	macrocephaly/megalencephaly syndrome, autosomal recessive		DOVES_relaxed.owl
MONDO:0017089	biolink:NamedThing	isolated megalencephaly	A megalencephaly (disease) that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0011240	biolink:NamedThing	megalencephaly-capillary malformation-polymicrogyria syndrome	A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.	DOVES_relaxed.owl
MONDO:0017177	biolink:NamedThing	hemihyperplasia-multiple lipomatosis syndrome	A rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.	DOVES_relaxed.owl
MONDO:0017812	biolink:NamedThing	segmental progressive overgrowth syndrome with fibroadipose hyperplasia	A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.	DOVES_relaxed.owl
MONDO:0007963	biolink:NamedThing	melanoma, cutaneous malignant, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0011713	biolink:NamedThing	melanoma-pancreatic cancer syndrome		DOVES_relaxed.owl
MONDO:0014056	biolink:NamedThing	melanoma, cutaneous malignant, susceptibility to, 9		DOVES_relaxed.owl
MONDO:0008155	biolink:NamedThing	osteomesopyknosis	Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.	DOVES_relaxed.owl
MONDO:0009138	biolink:NamedThing	dysosteosclerosis	Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.	DOVES_relaxed.owl
MONDO:0010866	biolink:NamedThing	infantile osteopetrosis with neuroaxonal dysplasia	This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.	DOVES_relaxed.owl
MONDO:0014080	biolink:NamedThing	osteosclerotic metaphyseal dysplasia		DOVES_relaxed.owl
MONDO:0034143	biolink:NamedThing	early-onset calcifying leukoencephalopathy-skeletal dysplasia		DOVES_relaxed.owl
MONDO:0007974	biolink:NamedThing	intellectual disability, autosomal dominant 1	An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.	DOVES_relaxed.owl
MONDO:0012946	biolink:NamedThing	intellectual disability, autosomal dominant 3	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene.	DOVES_relaxed.owl
MONDO:0012947	biolink:NamedThing	intellectual disability, autosomal dominant 4	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene.	DOVES_relaxed.owl
MONDO:0012960	biolink:NamedThing	intellectual disability, autosomal dominant 5	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene.	DOVES_relaxed.owl
MONDO:0013509	biolink:NamedThing	intellectual disability, autosomal dominant 6	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene.	DOVES_relaxed.owl
MONDO:0013581	biolink:NamedThing	intellectual disability, autosomal dominant 2	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene.	DOVES_relaxed.owl
MONDO:0013655	biolink:NamedThing	intellectual disability, autosomal dominant 8	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene.	DOVES_relaxed.owl
MONDO:0013656	biolink:NamedThing	intellectual disability, autosomal dominant 9	An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity.	DOVES_relaxed.owl
MONDO:0013657	biolink:NamedThing	intellectual disability, autosomal dominant 10	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene.	DOVES_relaxed.owl
MONDO:0013658	biolink:NamedThing	intellectual disability, autosomal dominant 11	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene.	DOVES_relaxed.owl
MONDO:0013805	biolink:NamedThing	intellectual disability, autosomal dominant 13	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.	DOVES_relaxed.owl
MONDO:0014357	biolink:NamedThing	intellectual disability, autosomal dominant 24	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene.	DOVES_relaxed.owl
MONDO:0014512	biolink:NamedThing	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.	DOVES_relaxed.owl
MONDO:0014617	biolink:NamedThing	intellectual disability, autosomal dominant 38	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene.	DOVES_relaxed.owl
MONDO:0014678	biolink:NamedThing	intellectual disability, autosomal dominant 39	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene.	DOVES_relaxed.owl
MONDO:0014699	biolink:NamedThing	intellectual disability, autosomal dominant 40	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene.	DOVES_relaxed.owl
MONDO:0015802	biolink:NamedThing	autosomal dominant non-syndromic intellectual disability	Autosomal dominant form of non-syndromic intellectual disability.	DOVES_relaxed.owl
MONDO:0023657	biolink:NamedThing	intellectual developmental disorder, autosomal dominant 65		DOVES_relaxed.owl
MONDO:0029465	biolink:NamedThing	intellectual developmental disorder, autosomal dominant 69		DOVES_relaxed.owl
MONDO:0030891	biolink:NamedThing	intellectual developmental disorder, autosomal dominant 66		DOVES_relaxed.owl
MONDO:0030934	biolink:NamedThing	intellectual developmental disorder, autosomal dominant 64		DOVES_relaxed.owl
MONDO:0030964	biolink:NamedThing	intellectual developmental disorder, autosomal dominant 67		DOVES_relaxed.owl
MONDO:0030969	biolink:NamedThing	intellectual developmental disorder, autosomal dominant 68		DOVES_relaxed.owl
MONDO:0007981	biolink:NamedThing	metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A		DOVES_relaxed.owl
MONDO:0009590	biolink:NamedThing	metachromatic leukodystrophy due to saposin B deficiency		DOVES_relaxed.owl
MONDO:0009591	biolink:NamedThing	metachromatic leukodystrophy, juvenile form	Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.	DOVES_relaxed.owl
MONDO:0007982	biolink:NamedThing	metaphyseal chondrodysplasia, Jansen type	Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.	DOVES_relaxed.owl
MONDO:0007983	biolink:NamedThing	Schmid metaphyseal chondrodysplasia	Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.	DOVES_relaxed.owl
MONDO:0007984	biolink:NamedThing	metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.	DOVES_relaxed.owl
MONDO:0008619	biolink:NamedThing	ulna metaphyseal dysplasia syndrome	Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.	DOVES_relaxed.owl
MONDO:0009592	biolink:NamedThing	metaphyseal acroscyphodysplasia	Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.	DOVES_relaxed.owl
MONDO:0009594	biolink:NamedThing	metaphyseal chondrodysplasia, Kaitila type	Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.	DOVES_relaxed.owl
MONDO:0009597	biolink:NamedThing	metaphyseal chondrodysplasia, Spahr type		DOVES_relaxed.owl
MONDO:0009598	biolink:NamedThing	metaphyseal chondrodysplasia-retinitis pigmentosa syndrome		DOVES_relaxed.owl
MONDO:0009599	biolink:NamedThing	metaphyseal dysostosis-intellectual disability-conductive deafness syndrome	Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.	DOVES_relaxed.owl
MONDO:0011198	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Missouri type	A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.	DOVES_relaxed.owl
MONDO:0015177	biolink:NamedThing	metaphyseal anadysplasia	Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.	DOVES_relaxed.owl
MONDO:0015907	biolink:NamedThing	epimetaphyseal skeletal dysplasia		DOVES_relaxed.owl
MONDO:0044204	biolink:NamedThing	Shwachman-Diamond syndrome 1		DOVES_relaxed.owl
MONDO:0044205	biolink:NamedThing	Shwachman-Diamond syndrome 2	Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400).	DOVES_relaxed.owl
MONDO:0054561	biolink:NamedThing	anauxetic dysplasia 2		DOVES_relaxed.owl
MONDO:0009593	biolink:NamedThing	spondylometaphyseal dysplasia, Sedaghatian type	Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.	DOVES_relaxed.owl
MONDO:0010738	biolink:NamedThing	spondylometaphyseal dysplasia, Golden type	Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.	DOVES_relaxed.owl
MONDO:0011211	biolink:NamedThing	axial spondylometaphyseal dysplasia	Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.	DOVES_relaxed.owl
MONDO:0011856	biolink:NamedThing	spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome		DOVES_relaxed.owl
MONDO:0012160	biolink:NamedThing	spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0012185	biolink:NamedThing	spondylometaphyseal dysplasia, A4 type		DOVES_relaxed.owl
MONDO:0012713	biolink:NamedThing	spondylometaphyseal dysplasia, East African type		DOVES_relaxed.owl
MONDO:0013223	biolink:NamedThing	autosomal recessive spondylometaphyseal dysplasia, Megarbane type	Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.	DOVES_relaxed.owl
MONDO:0018255	biolink:NamedThing	spondylometaphyseal dysplasia, Czarny-Ratajczak type		DOVES_relaxed.owl
MONDO:0018663	biolink:NamedThing	regressive spondylometaphyseal dysplasia		DOVES_relaxed.owl
MONDO:0030487	biolink:NamedThing	spondylometaphyseal dysplasia, pagnamenta type		DOVES_relaxed.owl
MONDO:0031169	biolink:NamedThing	odontochondrodysplasia		DOVES_relaxed.owl
MONDO:0850096	biolink:NamedThing	SBDS-related severe neonatal spondylometaphyseal dysplasia		DOVES_relaxed.owl
MONDO:0007989	biolink:NamedThing	congenital microcoria	Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.	DOVES_relaxed.owl
MONDO:0019630	biolink:NamedThing	congenital ectropion uveae	Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.	DOVES_relaxed.owl
MONDO:0100235	biolink:NamedThing	FOXC1-related anterior segment dysgenesis	Any anterior segment dysgenesis in which the cause of the disease is a mutation in the FOXC1 gene.	DOVES_relaxed.owl
MONDO:0007994	biolink:NamedThing	micromelic bone dysplasia with cloverleaf skull		DOVES_relaxed.owl
MONDO:0008547	biolink:NamedThing	thanatophoric dysplasia type 2	Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.	DOVES_relaxed.owl
MONDO:0008000	biolink:NamedThing	migraine with or without aura, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0010253	biolink:NamedThing	migraine, familial typical, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0011845	biolink:NamedThing	migraine with or without aura, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0011847	biolink:NamedThing	migraine without aura, susceptibility to, 4	An inherited susceptibility or predisposition to developing migraines without aura.	DOVES_relaxed.owl
MONDO:0011850	biolink:NamedThing	migraine with or without aura, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0011851	biolink:NamedThing	migraine with or without aura, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0012210	biolink:NamedThing	migraine with aura, susceptibility to, 7		DOVES_relaxed.owl
MONDO:0012303	biolink:NamedThing	migraine with or without aura, susceptibility to, 8		DOVES_relaxed.owl
MONDO:0012331	biolink:NamedThing	migraine with aura, susceptibility to, 9		DOVES_relaxed.owl
MONDO:0012440	biolink:NamedThing	migraine with or without aura, susceptibility to, 10		DOVES_relaxed.owl
MONDO:0012441	biolink:NamedThing	migraine with or without aura, susceptibility to, 11		DOVES_relaxed.owl
MONDO:0012715	biolink:NamedThing	migraine with or without aura, susceptibility to, 12		DOVES_relaxed.owl
MONDO:0013344	biolink:NamedThing	migraine, with or without aura, susceptibility to, 13	Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene.	DOVES_relaxed.owl
MONDO:0008002	biolink:NamedThing	mirror movements 1	Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene.	DOVES_relaxed.owl
MONDO:0100515	biolink:NamedThing	mirror movements 1 and/or agenesis of the corpus callosum	A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family).	DOVES_relaxed.owl
MONDO:0009783	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.	DOVES_relaxed.owl
MONDO:0014062	biolink:NamedThing	mitochondrial DNA deletion syndrome with progressive myopathy		DOVES_relaxed.owl
MONDO:0014656	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene.	DOVES_relaxed.owl
MONDO:0014898	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene.	DOVES_relaxed.owl
MONDO:0014899	biolink:NamedThing	adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.	DOVES_relaxed.owl
MONDO:0020845	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5		DOVES_relaxed.owl
MONDO:0016798	biolink:NamedThing	ataxia neuropathy spectrum		DOVES_relaxed.owl
MONDO:0019817	biolink:NamedThing	congenital mitral valve insufficiency and/or stenosis		DOVES_relaxed.owl
MONDO:0020398	biolink:NamedThing	congenital mitral stenosis	Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure.	DOVES_relaxed.owl
MONDO:0020399	biolink:NamedThing	congenital hypoplasia of the mitral valve annulus	Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.	DOVES_relaxed.owl
MONDO:0020400	biolink:NamedThing	congenital supravalvular mitral ring	Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.	DOVES_relaxed.owl
MONDO:0020401	biolink:NamedThing	congenital unguarded mitral orifice	Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.	DOVES_relaxed.owl
MONDO:0020402	biolink:NamedThing	congenital accessory mitral valve tissue	Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.	DOVES_relaxed.owl
MONDO:0020403	biolink:NamedThing	congenital mitral valve agenesis	Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.	DOVES_relaxed.owl
MONDO:0008388	biolink:NamedThing	ringed hair disease	Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.	DOVES_relaxed.owl
MONDO:0008621	biolink:NamedThing	uncombable hair syndrome	Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.	DOVES_relaxed.owl
MONDO:0008686	biolink:NamedThing	isolated familial woolly hair disorder	Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.	DOVES_relaxed.owl
MONDO:0009870	biolink:NamedThing	pili torti	Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome.	DOVES_relaxed.owl
MONDO:0019120	biolink:NamedThing	pili bifurcati	Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.	DOVES_relaxed.owl
MONDO:0019330	biolink:NamedThing	pili gemini	Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.	DOVES_relaxed.owl
MONDO:0008013	biolink:NamedThing	chromosome 9p deletion syndrome	Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.	DOVES_relaxed.owl
MONDO:0016874	biolink:NamedThing	partial deletion of chromosome 9		DOVES_relaxed.owl
MONDO:0016908	biolink:NamedThing	partial monosomy of the long arm of chromosome 9		DOVES_relaxed.owl
MONDO:0035173	biolink:NamedThing	9q21.13 microdeletion syndrome	A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.	DOVES_relaxed.owl
MONDO:0008019	biolink:NamedThing	mullerian aplasia and hyperandrogenism	Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina.	DOVES_relaxed.owl
MONDO:0015830	biolink:NamedThing	partial bilateral aplasia of the mullerian ducts		DOVES_relaxed.owl
MONDO:0008021	biolink:NamedThing	Cowden syndrome 1	Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene.	DOVES_relaxed.owl
MONDO:0012878	biolink:NamedThing	Cowden syndrome 2	Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene.	DOVES_relaxed.owl
MONDO:0014045	biolink:NamedThing	Cowden syndrome 3	Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene.	DOVES_relaxed.owl
MONDO:0014046	biolink:NamedThing	Cowden syndrome 4	Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene.	DOVES_relaxed.owl
MONDO:0014047	biolink:NamedThing	Cowden syndrome 5	Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene.	DOVES_relaxed.owl
MONDO:0014048	biolink:NamedThing	Cowden syndrome 6	Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene.	DOVES_relaxed.owl
MONDO:0014802	biolink:NamedThing	Cowden syndrome 7	Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene.	DOVES_relaxed.owl
MONDO:0042961	biolink:NamedThing	sacral hemangiomas multiple congenital abnormalities		DOVES_relaxed.owl
MONDO:0009983	biolink:NamedThing	retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.	DOVES_relaxed.owl
MONDO:0010051	biolink:NamedThing	spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome	Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents.	DOVES_relaxed.owl
MONDO:0011202	biolink:NamedThing	RHYNS syndrome	RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.	DOVES_relaxed.owl
MONDO:0014495	biolink:NamedThing	retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0017041	biolink:NamedThing	osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome	Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.	DOVES_relaxed.owl
MONDO:0017804	biolink:NamedThing	autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome	Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.	DOVES_relaxed.owl
MONDO:0008024	biolink:NamedThing	neuronopathy, distal hereditary motor, type 7A	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene.	DOVES_relaxed.owl
MONDO:0008025	biolink:NamedThing	neuronopathy, distal hereditary motor, type 2A	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene.	DOVES_relaxed.owl
MONDO:0011879	biolink:NamedThing	neuronopathy, distal hereditary motor, type 7B	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene.	DOVES_relaxed.owl
MONDO:0012080	biolink:NamedThing	neuronopathy, distal hereditary motor, type 2B	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene.	DOVES_relaxed.owl
MONDO:0013243	biolink:NamedThing	neuronopathy, distal hereditary motor, type 2C	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.	DOVES_relaxed.owl
MONDO:0014259	biolink:NamedThing	neuronopathy, distal hereditary motor, type 2D	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene.	DOVES_relaxed.owl
MONDO:0100350	biolink:NamedThing	neuronopathy, distal hereditary motor, type 5		DOVES_relaxed.owl
MONDO:0015355	biolink:NamedThing	distal hereditary motor neuropathy type 7	Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.	DOVES_relaxed.owl
MONDO:0015352	biolink:NamedThing	distal hereditary motor neuropathy type 2		DOVES_relaxed.owl
MONDO:0008026	biolink:NamedThing	autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures		DOVES_relaxed.owl
MONDO:0018190	biolink:NamedThing	autosomal dominant childhood-onset proximal spinal muscular atrophy		DOVES_relaxed.owl
MONDO:0014121	biolink:NamedThing	autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures		DOVES_relaxed.owl
MONDO:0032660	biolink:NamedThing	spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant		DOVES_relaxed.owl
MONDO:0008028	biolink:NamedThing	muscular dystrophy, Barnes type		DOVES_relaxed.owl
MONDO:0010675	biolink:NamedThing	muscular dystrophy, cardiac type		DOVES_relaxed.owl
MONDO:0010676	biolink:NamedThing	muscular dystrophy, Hemizygous lethal type		DOVES_relaxed.owl
MONDO:0010677	biolink:NamedThing	muscular dystrophy, Mabry type		DOVES_relaxed.owl
MONDO:0010678	biolink:NamedThing	muscular dystrophy, progressive Pectorodorsal		DOVES_relaxed.owl
MONDO:0100228	biolink:NamedThing	LAMA2-related muscular dystrophy	Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene.	DOVES_relaxed.owl
MONDO:0008030	biolink:NamedThing	facioscapulohumeral muscular dystrophy 1	Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene.	DOVES_relaxed.owl
MONDO:0008031	biolink:NamedThing	facioscapulohumeral muscular dystrophy 2	Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.	DOVES_relaxed.owl
MONDO:0010884	biolink:NamedThing	muscular dystrophy, scapulohumeral		DOVES_relaxed.owl
MONDO:0030354	biolink:NamedThing	facioscapulohumeral muscular dystrophy 3, digenic		DOVES_relaxed.owl
MONDO:0030355	biolink:NamedThing	facioscapulohumeral muscular dystrophy 4, digenic		DOVES_relaxed.owl
MONDO:0008034	biolink:NamedThing	muscular dystrophy, pseudohypertrophic, with Internalized capillaries		DOVES_relaxed.owl
MONDO:0010311	biolink:NamedThing	Becker muscular dystrophy	Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.	DOVES_relaxed.owl
MONDO:0008038	biolink:NamedThing	ataxia-pancytopenia syndrome	A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.	DOVES_relaxed.owl
MONDO:0016612	biolink:NamedThing	X-linked cerebellar ataxia	X-linked form of cerebellar ataxia.	DOVES_relaxed.owl
MONDO:0008044	biolink:NamedThing	myoclonic dystonia 11	Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene.	DOVES_relaxed.owl
MONDO:0011844	biolink:NamedThing	myoclonic dystonia 15	A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11.	DOVES_relaxed.owl
MONDO:0014620	biolink:NamedThing	myoclonic dystonia 26	Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene.	DOVES_relaxed.owl
MONDO:0008452	biolink:NamedThing	spinal muscular atrophy, facioscapulohumeral type		DOVES_relaxed.owl
MONDO:0008455	biolink:NamedThing	spinal muscular atrophy, segmental		DOVES_relaxed.owl
MONDO:0010057	biolink:NamedThing	spinal muscular atrophy, Ryukyuan type		DOVES_relaxed.owl
MONDO:0010338	biolink:NamedThing	X-linked distal spinal muscular atrophy type 3	X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.	DOVES_relaxed.owl
MONDO:0011436	biolink:NamedThing	autosomal recessive distal spinal muscular atrophy 1	Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.	DOVES_relaxed.owl
MONDO:0011585	biolink:NamedThing	autosomal recessive distal spinal muscular atrophy 2	Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset).	DOVES_relaxed.owl
MONDO:0011771	biolink:NamedThing	distal spinal muscular atrophy type 3	Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.	DOVES_relaxed.owl
MONDO:0013947	biolink:NamedThing	young adult-onset distal hereditary motor neuropathy	Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.	DOVES_relaxed.owl
MONDO:0010791	biolink:NamedThing	myoglobinuria, recurrent	An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner.	DOVES_relaxed.owl
MONDO:0008722	biolink:NamedThing	short chain acyl-CoA dehydrogenase deficiency	Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.	DOVES_relaxed.owl
MONDO:0008919	biolink:NamedThing	systemic primary carnitine deficiency disease	Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.	DOVES_relaxed.owl
MONDO:0009703	biolink:NamedThing	myopathy with abnormal lipid metabolism		DOVES_relaxed.owl
MONDO:0015515	biolink:NamedThing	carnitine palmitoyltransferase II deficiency	Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.	DOVES_relaxed.owl
MONDO:0010683	biolink:NamedThing	X-linked centronuclear myopathy	An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.	DOVES_relaxed.owl
MONDO:0015705	biolink:NamedThing	autosomal recessive centronuclear myopathy	Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.	DOVES_relaxed.owl
MONDO:0054695	biolink:NamedThing	myopathy, centronuclear, 6, with fiber-type disproportion		DOVES_relaxed.owl
MONDO:0008049	biolink:NamedThing	myopathy, distal, infantile-onset		DOVES_relaxed.owl
MONDO:0014877	biolink:NamedThing	myopathy, distal, 5	Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene.	DOVES_relaxed.owl
MONDO:0014945	biolink:NamedThing	myopathy, distal, with rimmed vacuoles		DOVES_relaxed.owl
MONDO:0024771	biolink:NamedThing	myopathy, distal, 7, adult-onset, X-linked		DOVES_relaxed.owl
MONDO:0016195	biolink:NamedThing	qualitative or quantitative defects of beta-myosin heavy chain (MYH7)		DOVES_relaxed.owl
MONDO:0008409	biolink:NamedThing	MYH7-related late-onset scapuloperoneal muscular dystrophy		DOVES_relaxed.owl
MONDO:0018010	biolink:NamedThing	juvenile idiopathic inflammatory myopathy		DOVES_relaxed.owl
MONDO:0018011	biolink:NamedThing	juvenile overlap myositis	Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.	DOVES_relaxed.owl
MONDO:0019734	biolink:NamedThing	juvenile polymyositis	An idiopathic inflammatory myopathy of childhood resulting in muscle weakness.	DOVES_relaxed.owl
MONDO:0008055	biolink:NamedThing	myotonia congenita, autosomal dominant		DOVES_relaxed.owl
MONDO:0008057	biolink:NamedThing	Carney complex, type 1	Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene.	DOVES_relaxed.owl
MONDO:0011525	biolink:NamedThing	Carney complex type 2		DOVES_relaxed.owl
MONDO:0008062	biolink:NamedThing	narcolepsy 1	A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy.	DOVES_relaxed.owl
MONDO:0012179	biolink:NamedThing	narcolepsy 3		DOVES_relaxed.owl
MONDO:0013652	biolink:NamedThing	narcolepsy 7	Any narcolepsy in which the cause of the disease is a mutation in the MOG gene.	DOVES_relaxed.owl
MONDO:0016814	biolink:NamedThing	maternally-inherited Leigh syndrome	Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.	DOVES_relaxed.owl
MONDO:0016816	biolink:NamedThing	Leigh syndrome with nephrotic syndrome		DOVES_relaxed.owl
MONDO:0019083	biolink:NamedThing	Leigh syndrome with cardiomyopathy		DOVES_relaxed.owl
MONDO:0008070	biolink:NamedThing	nemaline myopathy 3	An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.	DOVES_relaxed.owl
MONDO:0009725	biolink:NamedThing	nemaline myopathy 2	An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.	DOVES_relaxed.owl
MONDO:0014138	biolink:NamedThing	nemaline myopathy 8	An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.	DOVES_relaxed.owl
MONDO:0014326	biolink:NamedThing	nemaline myopathy 9	Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene.	DOVES_relaxed.owl
MONDO:0014513	biolink:NamedThing	nemaline myopathy 10	Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene.	DOVES_relaxed.owl
MONDO:0012239	biolink:NamedThing	nemaline myopathy 1	Any nemaline myopathy in which the cause of the disease is a mutation in the TPM3 gene.	DOVES_relaxed.owl
MONDO:0012538	biolink:NamedThing	nemaline myopathy 7	Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.	DOVES_relaxed.owl
MONDO:0012237	biolink:NamedThing	nemaline myopathy 6	Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.	DOVES_relaxed.owl
MONDO:0015753	biolink:NamedThing	cap myopathy	Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.	DOVES_relaxed.owl
MONDO:0019949	biolink:NamedThing	zebra body myopathy		DOVES_relaxed.owl
MONDO:0020342	biolink:NamedThing	congenital myopathy with excess of thin filaments		DOVES_relaxed.owl
MONDO:0013128	biolink:NamedThing	familial juvenile hyperuricemic nephropathy type 2	Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).	DOVES_relaxed.owl
MONDO:0013643	biolink:NamedThing	hyperuricemic nephropathy, familial juvenile type 3		DOVES_relaxed.owl
MONDO:0014891	biolink:NamedThing	hyperuricemic nephropathy, familial juvenile type 4	Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.	DOVES_relaxed.owl
MONDO:0020726	biolink:NamedThing	tubulointerstitial kidney disease, autosomal dominant, 2	An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.	DOVES_relaxed.owl
MONDO:0008078	biolink:NamedThing	neurofibromatosis, familial spinal		DOVES_relaxed.owl
MONDO:0013357	biolink:NamedThing	chromosome 17q11.2 deletion syndrome, 1.4Mb	A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.	DOVES_relaxed.owl
MONDO:0018208	biolink:NamedThing	neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		DOVES_relaxed.owl
MONDO:0008080	biolink:NamedThing	neurofibromatosis, type III, mixed central and peripheral		DOVES_relaxed.owl
MONDO:0014299	biolink:NamedThing	schwannomatosis 2		DOVES_relaxed.owl
MONDO:0024517	biolink:NamedThing	schwannomatosis 1		DOVES_relaxed.owl
MONDO:0008083	biolink:NamedThing	ceroid lipofuscinosis, neuronal, 4 (Kufs type)	A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.	DOVES_relaxed.owl
MONDO:0019260	biolink:NamedThing	adult neuronal ceroid lipofuscinosis	A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.	DOVES_relaxed.owl
MONDO:0008768	biolink:NamedThing	ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene.	DOVES_relaxed.owl
MONDO:0012414	biolink:NamedThing	neuronal ceroid lipofuscinosis 10	A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	DOVES_relaxed.owl
MONDO:0013866	biolink:NamedThing	neuronal ceroid lipofuscinosis 11	Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene.	DOVES_relaxed.owl
MONDO:0014147	biolink:NamedThing	neuronal ceroid lipofuscinosis 13	Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene.	DOVES_relaxed.owl
MONDO:0008086	biolink:NamedThing	neuropathy, hereditary sensory and autonomic, type 1A	An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1.	DOVES_relaxed.owl
MONDO:0018213	biolink:NamedThing	hereditary sensory and autonomic neuropathy type 1	Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.	DOVES_relaxed.owl
MONDO:0011961	biolink:NamedThing	hereditary sensory and autonomic neuropathy type 1B	Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).	DOVES_relaxed.owl
MONDO:0013337	biolink:NamedThing	neuropathy, hereditary sensory and autonomic, type 1C	A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.	DOVES_relaxed.owl
MONDO:0013381	biolink:NamedThing	neuropathy, hereditary sensory, type 1D	A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.	DOVES_relaxed.owl
MONDO:0014286	biolink:NamedThing	neuropathy, hereditary sensory, type 1F	Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene.	DOVES_relaxed.owl
MONDO:0008087	biolink:NamedThing	hereditary neuropathy with liability to pressure palsies	Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.	DOVES_relaxed.owl
MONDO:0008392	biolink:NamedThing	Roussy-Levy syndrome		DOVES_relaxed.owl
MONDO:0011197	biolink:NamedThing	hereditary thermosensitive neuropathy	Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.	DOVES_relaxed.owl
MONDO:0011998	biolink:NamedThing	autosomal dominant slowed nerve conduction velocity	Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.	DOVES_relaxed.owl
MONDO:0014723	biolink:NamedThing	PMP22-RAI1 contiguous gene duplication syndrome		DOVES_relaxed.owl
MONDO:0015351	biolink:NamedThing	neuropathy with hearing impairment	This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.	DOVES_relaxed.owl
MONDO:0017237	biolink:NamedThing	hereditary sensorimotor neuropathy with hyperelastic skin		DOVES_relaxed.owl
MONDO:0033135	biolink:NamedThing	Charcot-Marie-Tooth disease, demyelinating, type 1G	A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.	DOVES_relaxed.owl
MONDO:0022754	biolink:NamedThing	chromosome 17p deletion	A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17.	DOVES_relaxed.owl
MONDO:0013415	biolink:NamedThing	chromosome 17p13.1 deletion syndrome		DOVES_relaxed.owl
MONDO:0016839	biolink:NamedThing	distal 17p13.3 microdeletion syndrome	Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.	DOVES_relaxed.owl
MONDO:0008090	biolink:NamedThing	cyclic hematopoiesis	A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.	DOVES_relaxed.owl
MONDO:0009288	biolink:NamedThing	glycogen storage disease Ib	A type of glycogenosis due to G6P deficiency.	DOVES_relaxed.owl
MONDO:0009523	biolink:NamedThing	Lichtenstein syndrome	Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0011872	biolink:NamedThing	Griscelli syndrome type 2	Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood.	DOVES_relaxed.owl
MONDO:0011997	biolink:NamedThing	Hermansky-Pudlak syndrome 2	A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.	DOVES_relaxed.owl
MONDO:0012559	biolink:NamedThing	primary immunodeficiency syndrome due to p14 deficiency	Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.	DOVES_relaxed.owl
MONDO:0017100	biolink:NamedThing	neutropenia-monocytopenia-deafness syndrome	Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.	DOVES_relaxed.owl
MONDO:0018542	biolink:NamedThing	severe congenital neutropenia		DOVES_relaxed.owl
MONDO:8000006	biolink:NamedThing	WHIM syndrome 1	A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).	DOVES_relaxed.owl
MONDO:0016293	biolink:NamedThing	congenital stationary night blindness		DOVES_relaxed.owl
MONDO:0013183	biolink:NamedThing	congenital stationary night blindness 1C	Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene.	DOVES_relaxed.owl
MONDO:0013807	biolink:NamedThing	congenital stationary night blindness 1E	Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene.	DOVES_relaxed.owl
MONDO:0014026	biolink:NamedThing	congenital stationary night blindness 1F	Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene.	DOVES_relaxed.owl
MONDO:0014872	biolink:NamedThing	congenital stationary night blindness 1H	Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene.	DOVES_relaxed.owl
MONDO:0008102	biolink:NamedThing	sick sinus syndrome 2, autosomal dominant	Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene.	DOVES_relaxed.owl
MONDO:0008423	biolink:NamedThing	sinus node disease and myopia		DOVES_relaxed.owl
MONDO:0024562	biolink:NamedThing	sick sinus syndrome 1	Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene.	DOVES_relaxed.owl
MONDO:0008104	biolink:NamedThing	Noonan syndrome 1	Noonan syndrome caused by mutations in the PTPN11 gene.	DOVES_relaxed.owl
MONDO:0011531	biolink:NamedThing	Noonan syndrome 2		DOVES_relaxed.owl
MONDO:0012371	biolink:NamedThing	Noonan syndrome 3	Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene.	DOVES_relaxed.owl
MONDO:0012547	biolink:NamedThing	Noonan syndrome 4	Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene.	DOVES_relaxed.owl
MONDO:0012690	biolink:NamedThing	Noonan syndrome 5	Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene.	DOVES_relaxed.owl
MONDO:0013186	biolink:NamedThing	Noonan syndrome 6	Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene.	DOVES_relaxed.owl
MONDO:0013379	biolink:NamedThing	Noonan syndrome 7	Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene.	DOVES_relaxed.owl
MONDO:0014143	biolink:NamedThing	Noonan syndrome 8	Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene.	DOVES_relaxed.owl
MONDO:0014691	biolink:NamedThing	Noonan syndrome 9	Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene.	DOVES_relaxed.owl
MONDO:0014693	biolink:NamedThing	Noonan syndrome 10	Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene.	DOVES_relaxed.owl
MONDO:0030679	biolink:NamedThing	Noonan syndrome 14		DOVES_relaxed.owl
MONDO:0032786	biolink:NamedThing	Noonan syndrome 11		DOVES_relaxed.owl
MONDO:0032839	biolink:NamedThing	noonan syndrome 12		DOVES_relaxed.owl
MONDO:0033669	biolink:NamedThing	Noonan syndrome 13		DOVES_relaxed.owl
MONDO:0008106	biolink:NamedThing	nystagmus 2, congenital, autosomal dominant		DOVES_relaxed.owl
MONDO:0008107	biolink:NamedThing	nystagmus, hereditary vertical		DOVES_relaxed.owl
MONDO:0008654	biolink:NamedThing	nystagmus 4, congenital, autosomal dominant		DOVES_relaxed.owl
MONDO:0009762	biolink:NamedThing	nystagmus, congenital, autosomal recessive		DOVES_relaxed.owl
MONDO:0010369	biolink:NamedThing	nystagmus 5, congenital, X-linked		DOVES_relaxed.owl
MONDO:0010435	biolink:NamedThing	nystagmus 6, congenital, X-linked		DOVES_relaxed.owl
MONDO:0010693	biolink:NamedThing	nystagmus 1, congenital, X-linked	Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene.	DOVES_relaxed.owl
MONDO:0010694	biolink:NamedThing	nystagmus, myoclonic		DOVES_relaxed.owl
MONDO:0012015	biolink:NamedThing	nystagmus 3, congenital, autosomal dominant		DOVES_relaxed.owl
MONDO:0013903	biolink:NamedThing	nystagmus 7, congenital, autosomal dominant		DOVES_relaxed.owl
MONDO:0008109	biolink:NamedThing	ocular cicatricial pemphigoid	Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system.	DOVES_relaxed.owl
MONDO:0013691	biolink:NamedThing	Feingold syndrome type 2	Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.	DOVES_relaxed.owl
MONDO:0008120	biolink:NamedThing	spinocerebellar ataxia type 7	Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.	DOVES_relaxed.owl
MONDO:0008132	biolink:NamedThing	optic atrophy with demyelinating disease of CNS		DOVES_relaxed.owl
MONDO:0010772	biolink:NamedThing	Leber optic atrophy and dystonia		DOVES_relaxed.owl
MONDO:0012543	biolink:NamedThing	optic atrophy 5		DOVES_relaxed.owl
MONDO:0008135	biolink:NamedThing	optic atrophy 13 with retinal and foveal abnormalities		DOVES_relaxed.owl
MONDO:0010698	biolink:NamedThing	optic atrophy 2	A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.	DOVES_relaxed.owl
MONDO:0011536	biolink:NamedThing	optic atrophy 4		DOVES_relaxed.owl
MONDO:0033549	biolink:NamedThing	optic atrophy 12		DOVES_relaxed.owl
MONDO:0013999	biolink:NamedThing	optic nerve edema-splenomegaly syndrome	Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.	DOVES_relaxed.owl
MONDO:0015310	biolink:NamedThing	syndromic optic nerve hypoplasia		DOVES_relaxed.owl
MONDO:0008137	biolink:NamedThing	orofaciodigital syndrome X	Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.	DOVES_relaxed.owl
MONDO:0008267	biolink:NamedThing	orofaciodigital syndrome V	Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).	DOVES_relaxed.owl
MONDO:0009642	biolink:NamedThing	orofaciodigital syndrome type II	Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.	DOVES_relaxed.owl
MONDO:0009793	biolink:NamedThing	orofaciodigital syndrome III	Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.	DOVES_relaxed.owl
MONDO:0009795	biolink:NamedThing	orofaciodigital syndrome IX	Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).	DOVES_relaxed.owl
MONDO:0010176	biolink:NamedThing	orofaciodigital syndrome type 6	Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.	DOVES_relaxed.owl
MONDO:0010336	biolink:NamedThing	orofaciodigital syndrome VIII	Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.	DOVES_relaxed.owl
MONDO:0012049	biolink:NamedThing	orofaciodigital syndrome VII		DOVES_relaxed.owl
MONDO:0013035	biolink:NamedThing	orofaciodigital syndrome XI	Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.	DOVES_relaxed.owl
MONDO:0014932	biolink:NamedThing	orofaciodigital syndrome XV		DOVES_relaxed.owl
MONDO:0015421	biolink:NamedThing	orofaciodigital syndrome type 12	Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.	DOVES_relaxed.owl
MONDO:0015422	biolink:NamedThing	orofaciodigital syndrome type 13	Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.	DOVES_relaxed.owl
MONDO:0033045	biolink:NamedThing	orofaciodigital syndrome 16		DOVES_relaxed.owl
MONDO:0033375	biolink:NamedThing	orofaciodigital syndrome 17		DOVES_relaxed.owl
MONDO:0054770	biolink:NamedThing	orofaciodigital syndrome 18		DOVES_relaxed.owl
MONDO:0008149	biolink:NamedThing	osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures	An osteogenesis imperfecta found in a single South African family.	DOVES_relaxed.owl
MONDO:0008154	biolink:NamedThing	osteomas of mandible		DOVES_relaxed.owl
MONDO:0008156	biolink:NamedThing	autosomal dominant osteopetrosis 2	A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).	DOVES_relaxed.owl
MONDO:0011877	biolink:NamedThing	autosomal dominant osteopetrosis 1	Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	DOVES_relaxed.owl
MONDO:0020848	biolink:NamedThing	osteopetrosis, autosomal dominant 3		DOVES_relaxed.owl
MONDO:0008215	biolink:NamedThing	adult-onset autosomal dominant demyelinating leukodystrophy	Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.	DOVES_relaxed.owl
MONDO:0008974	biolink:NamedThing	Greenberg dysplasia	A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.	DOVES_relaxed.owl
MONDO:0009557	biolink:NamedThing	mandibuloacral dysplasia with type A lipodystrophy	A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.	DOVES_relaxed.owl
MONDO:0012074	biolink:NamedThing	mandibuloacral dysplasia with type B lipodystrophy		DOVES_relaxed.owl
MONDO:0014676	biolink:NamedThing	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene.	DOVES_relaxed.owl
MONDO:0008164	biolink:NamedThing	otosclerosis 1		DOVES_relaxed.owl
MONDO:0011586	biolink:NamedThing	otosclerosis 2		DOVES_relaxed.owl
MONDO:0011999	biolink:NamedThing	otosclerosis 3		DOVES_relaxed.owl
MONDO:0012046	biolink:NamedThing	congenital corneal opacities, cornea guttata, and corectopia		DOVES_relaxed.owl
MONDO:0012121	biolink:NamedThing	otosclerosis 5		DOVES_relaxed.owl
MONDO:0012696	biolink:NamedThing	otosclerosis 4		DOVES_relaxed.owl
MONDO:0012697	biolink:NamedThing	otosclerosis 7		DOVES_relaxed.owl
MONDO:0012797	biolink:NamedThing	otosclerosis 8		DOVES_relaxed.owl
MONDO:0014264	biolink:NamedThing	otosclerosis 10		DOVES_relaxed.owl
MONDO:0008493	biolink:NamedThing	overhydrated hereditary stomatocytosis	Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.	DOVES_relaxed.owl
MONDO:0008494	biolink:NamedThing	cryohydrocytosis	A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.	DOVES_relaxed.owl
MONDO:0012204	biolink:NamedThing	familial pseudohyperkalemia	An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.	DOVES_relaxed.owl
MONDO:0017910	biolink:NamedThing	dehydrated hereditary stomatocytosis	Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.	DOVES_relaxed.owl
MONDO:0019107	biolink:NamedThing	Rh deficiency syndrome	The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.	DOVES_relaxed.owl
MONDO:0015466	biolink:NamedThing	cranio-osteoarthropathy	Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.	DOVES_relaxed.owl
MONDO:0008173	biolink:NamedThing	pachyonychia congenita 1	Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene.	DOVES_relaxed.owl
MONDO:0008174	biolink:NamedThing	pachyonychia congenita 2	Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene.	DOVES_relaxed.owl
MONDO:0014324	biolink:NamedThing	pachyonychia congenita 3	Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene.	DOVES_relaxed.owl
MONDO:0014325	biolink:NamedThing	pachyonychia congenita 4	Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene.	DOVES_relaxed.owl
MONDO:0008176	biolink:NamedThing	Paget disease of bone 3		DOVES_relaxed.owl
MONDO:0011656	biolink:NamedThing	paget disease of bone 4		DOVES_relaxed.owl
MONDO:0014792	biolink:NamedThing	Paget disease of bone 6		DOVES_relaxed.owl
MONDO:0008178	biolink:NamedThing	inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.	DOVES_relaxed.owl
MONDO:0014178	biolink:NamedThing	inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene.	DOVES_relaxed.owl
MONDO:0014179	biolink:NamedThing	inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3	Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene.	DOVES_relaxed.owl
MONDO:0008183	biolink:NamedThing	annular pancreas	Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.	DOVES_relaxed.owl
MONDO:0015213	biolink:NamedThing	non-syndromic visceral malformation		DOVES_relaxed.owl
MONDO:0018703	biolink:NamedThing	isolated splenogonadal fusion		DOVES_relaxed.owl
MONDO:0019034	biolink:NamedThing	accessory pancreas	Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.	DOVES_relaxed.owl
MONDO:0008184	biolink:NamedThing	pancreas, dorsal, agenesis of		DOVES_relaxed.owl
MONDO:0014406	biolink:NamedThing	pancreatic agenesis 2	Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene.	DOVES_relaxed.owl
MONDO:0024547	biolink:NamedThing	pancreatic agenesis 1	Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene.	DOVES_relaxed.owl
MONDO:0017227	biolink:NamedThing	autoimmune pancreatitis type 1	Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease.	DOVES_relaxed.owl
MONDO:0008187	biolink:NamedThing	panic disorder 1		DOVES_relaxed.owl
MONDO:0011924	biolink:NamedThing	panic disorder 2		DOVES_relaxed.owl
MONDO:0012384	biolink:NamedThing	panic disorder 3		DOVES_relaxed.owl
MONDO:0008193	biolink:NamedThing	paralysis agitans, juvenile, of Hunt		DOVES_relaxed.owl
MONDO:0009830	biolink:NamedThing	parkinsonian-pyramidal syndrome	A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.	DOVES_relaxed.owl
MONDO:0008195	biolink:NamedThing	paramyotonia congenita of Von Eulenburg	Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).	DOVES_relaxed.owl
MONDO:0016121	biolink:NamedThing	congenital myotonia		DOVES_relaxed.owl
MONDO:0018959	biolink:NamedThing	potassium-aggravated myotonia	Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.	DOVES_relaxed.owl
MONDO:0054869	biolink:NamedThing	nondystrophic myotonia		DOVES_relaxed.owl
MONDO:0800339	biolink:NamedThing	laryngospasm, severe neonatal episodic		DOVES_relaxed.owl
MONDO:0038268	biolink:NamedThing	autoimmune neurological channelopathy		DOVES_relaxed.owl
MONDO:0100446	biolink:NamedThing	CNGB3-related retinopathy	A retinopathy caused by biallelic variants in the CNGB3 gene.	DOVES_relaxed.owl
MONDO:0008197	biolink:NamedThing	parietal foramina 1	Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene.	DOVES_relaxed.owl
MONDO:0012302	biolink:NamedThing	parietal foramina 3		DOVES_relaxed.owl
MONDO:0012309	biolink:NamedThing	parietal foramina 2	Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene.	DOVES_relaxed.owl
MONDO:0010796	biolink:NamedThing	Parkinson disease, mitochondrial		DOVES_relaxed.owl
MONDO:0013167	biolink:NamedThing	parkinson disease 16		DOVES_relaxed.owl
MONDO:0008200	biolink:NamedThing	autosomal dominant Parkinson disease 1		DOVES_relaxed.owl
MONDO:0011562	biolink:NamedThing	autosomal dominant Parkinson disease 4	A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22.	DOVES_relaxed.owl
MONDO:0011764	biolink:NamedThing	autosomal dominant Parkinson disease 8	Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene.	DOVES_relaxed.owl
MONDO:0013060	biolink:NamedThing	autosomal recessive Parkinson disease 14	A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.	DOVES_relaxed.owl
MONDO:0013625	biolink:NamedThing	Parkinson disease 17	Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene.	DOVES_relaxed.owl
MONDO:0014604	biolink:NamedThing	Parkinson disease 21	Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene.	DOVES_relaxed.owl
MONDO:0014742	biolink:NamedThing	Parkinson disease 22, autosomal dominant	Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene.	DOVES_relaxed.owl
MONDO:0017427	biolink:NamedThing	congenital deformities of limbs		DOVES_relaxed.owl
MONDO:0017430	biolink:NamedThing	non-syndromic congenital joint dislocations		DOVES_relaxed.owl
MONDO:0017431	biolink:NamedThing	non-syndromic limb overgrowth		DOVES_relaxed.owl
MONDO:0014878	biolink:NamedThing	patent ductus arteriosus 2		DOVES_relaxed.owl
MONDO:0024266	biolink:NamedThing	patent ductus arteriosus 3	Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene.	DOVES_relaxed.owl
MONDO:0024560	biolink:NamedThing	PDA1		DOVES_relaxed.owl
MONDO:0008210	biolink:NamedThing	patterned macular dystrophy 1	Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.	DOVES_relaxed.owl
MONDO:0012162	biolink:NamedThing	patterned macular dystrophy 2	Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene.	DOVES_relaxed.owl
MONDO:0014920	biolink:NamedThing	patterned macular dystrophy 3	Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene.	DOVES_relaxed.owl
MONDO:0016956	biolink:NamedThing	partial trisomy of the long arm of chromosome 5	Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0016461	biolink:NamedThing	5q35 microduplication syndrome	The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.	DOVES_relaxed.owl
MONDO:0019880	biolink:NamedThing	distal trisomy 5q	Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).	DOVES_relaxed.owl
MONDO:0008752	biolink:NamedThing	Alexander disease	Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.	DOVES_relaxed.owl
MONDO:0010079	biolink:NamedThing	Canavan disease	A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.	DOVES_relaxed.owl
MONDO:0010714	biolink:NamedThing	Pelizaeus-Merzbacher disease	An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.	DOVES_relaxed.owl
MONDO:0010733	biolink:NamedThing	hereditary spastic paraplegia 2	Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.	DOVES_relaxed.owl
MONDO:0011380	biolink:NamedThing	leukoencephalopathy with vanishing white matter	A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect.	DOVES_relaxed.owl
MONDO:0011391	biolink:NamedThing	megalencephalic leukoencephalopathy with subcortical cysts	Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.	DOVES_relaxed.owl
MONDO:0011897	biolink:NamedThing	leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	A syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described.	DOVES_relaxed.owl
MONDO:0012073	biolink:NamedThing	ribose-5-P isomerase deficiency	Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.	DOVES_relaxed.owl
MONDO:0012514	biolink:NamedThing	hypomyelinating leukodystrophy 5	Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.	DOVES_relaxed.owl
MONDO:0012905	biolink:NamedThing	hypomyelinating leukodystrophy 6	Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.	DOVES_relaxed.owl
MONDO:0013058	biolink:NamedThing	cystic leukoencephalopathy without megalencephaly	Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.	DOVES_relaxed.owl
MONDO:0013391	biolink:NamedThing	sterol carrier protein 2 deficiency	A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.	DOVES_relaxed.owl
MONDO:0013971	biolink:NamedThing	leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.	DOVES_relaxed.owl
MONDO:0014115	biolink:NamedThing	hypomyelination with brain stem and spinal cord involvement and leg spasticity		DOVES_relaxed.owl
MONDO:0014292	biolink:NamedThing	leukoencephalopathy with mild cerebellar ataxia and white matter edema		DOVES_relaxed.owl
MONDO:0014464	biolink:NamedThing	progressive encephalopathy with leukodystrophy due to DECR deficiency	Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.	DOVES_relaxed.owl
MONDO:0014506	biolink:NamedThing	hypomyelinating leukodystrophy 9	Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene.	DOVES_relaxed.owl
MONDO:0014632	biolink:NamedThing	hypomyelinating leukodystrophy 10	Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.	DOVES_relaxed.owl
MONDO:0014666	biolink:NamedThing	hypomyelinating leukodystrophy 11	Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene.	DOVES_relaxed.owl
MONDO:0014732	biolink:NamedThing	hypomyelinating leukodystrophy 12	Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.	DOVES_relaxed.owl
MONDO:0014813	biolink:NamedThing	hypomyelinating leukodystrophy 13	Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene.	DOVES_relaxed.owl
MONDO:0015348	biolink:NamedThing	leukoencephalopathy with bilateral anterior temporal lobe cysts	Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.	DOVES_relaxed.owl
MONDO:0015349	biolink:NamedThing	progressive cavitating leukoencephalopathy	Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.	DOVES_relaxed.owl
MONDO:0017226	biolink:NamedThing	Pelizaeus-Merzbacher-like disease	Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).	DOVES_relaxed.owl
MONDO:0019177	biolink:NamedThing	odontoleukodystrophy	Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0019397	biolink:NamedThing	unknown leukodystrophy		DOVES_relaxed.owl
MONDO:0020505	biolink:NamedThing	ravine syndrome	Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.	DOVES_relaxed.owl
MONDO:0025701	biolink:NamedThing	leukodystrophy, hypomyelinating, 22		DOVES_relaxed.owl
MONDO:0030263	biolink:NamedThing	leukodystrophy, hypomyelinating, 21		DOVES_relaxed.owl
MONDO:0030514	biolink:NamedThing	leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy		DOVES_relaxed.owl
MONDO:0032730	biolink:NamedThing	leukodystrophy, hypomyelinating, 18		DOVES_relaxed.owl
MONDO:0032871	biolink:NamedThing	leukodystrophy, hypomyelinating, 19, transient infantile		DOVES_relaxed.owl
MONDO:0033043	biolink:NamedThing	spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		DOVES_relaxed.owl
MONDO:0033486	biolink:NamedThing	leukodystrophy, hypomyelinating, 14		DOVES_relaxed.owl
MONDO:0033657	biolink:NamedThing	leukodystrophy, hypomyelinating, 20		DOVES_relaxed.owl
MONDO:0044642	biolink:NamedThing	c11orf73-related autosomal recessive hypomyelinating leukodystrophy		DOVES_relaxed.owl
MONDO:0044718	biolink:NamedThing	alkaline ceramidase 3 deficiency		DOVES_relaxed.owl
MONDO:0054782	biolink:NamedThing	leukodystrophy, hypomyelinating, 15		DOVES_relaxed.owl
MONDO:0054791	biolink:NamedThing	leukodystrophy, hypomyelinating, 16		DOVES_relaxed.owl
MONDO:0054817	biolink:NamedThing	leukodystrophy, hypomyelinating, 17		DOVES_relaxed.owl
MONDO:0800027	biolink:NamedThing	leukoencephalopathy, diffuse hereditary, with spheroids 1	A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.	DOVES_relaxed.owl
MONDO:0008221	biolink:NamedThing	prolidase deficiency	An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.	DOVES_relaxed.owl
MONDO:0019232	biolink:NamedThing	inborn disorder of peptide metabolism		DOVES_relaxed.owl
MONDO:0009351	biolink:NamedThing	homocarnosinosis	Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.	DOVES_relaxed.owl
MONDO:0019742	biolink:NamedThing	late-onset nephronophthisis		DOVES_relaxed.owl
MONDO:0008223	biolink:NamedThing	hypokalemic periodic paralysis	Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.	DOVES_relaxed.owl
MONDO:0008224	biolink:NamedThing	hyperkalemic periodic paralysis	Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.	DOVES_relaxed.owl
MONDO:0008225	biolink:NamedThing	normokalemic periodic paralysis		DOVES_relaxed.owl
MONDO:0019201	biolink:NamedThing	thyrotoxic periodic paralysis	Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.	DOVES_relaxed.owl
MONDO:0042980	biolink:NamedThing	Westphal disease		DOVES_relaxed.owl
MONDO:0009238	biolink:NamedThing	hereditary folate malabsorption	Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.	DOVES_relaxed.owl
MONDO:0009240	biolink:NamedThing	formiminoglutamic aciduria	Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.	DOVES_relaxed.owl
MONDO:0013456	biolink:NamedThing	constitutional megaloblastic anemia with severe neurologic disease		DOVES_relaxed.owl
MONDO:0020112	biolink:NamedThing	vitamin B12- and folate-independent constitutional megaloblastic anemia		DOVES_relaxed.owl
MONDO:0008250	biolink:NamedThing	isolated growth hormone deficiency type II		DOVES_relaxed.owl
MONDO:0009876	biolink:NamedThing	isolated growth hormone deficiency type IA	An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3.	DOVES_relaxed.owl
MONDO:0009879	biolink:NamedThing	short stature due to growth hormone qualitative anomaly	Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0010615	biolink:NamedThing	isolated growth hormone deficiency type III		DOVES_relaxed.owl
MONDO:0013006	biolink:NamedThing	isolated growth hormone deficiency type IB	An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.	DOVES_relaxed.owl
MONDO:0032567	biolink:NamedThing	isolated growth hormone deficiency, type 4		DOVES_relaxed.owl
MONDO:0032569	biolink:NamedThing	isolated growth hormone deficiency, type 5		DOVES_relaxed.owl
MONDO:0008251	biolink:NamedThing	familial pityriasis rubra pilaris	A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.	DOVES_relaxed.owl
MONDO:0100018	biolink:NamedThing	adult onset pityriasis rubra pilaris	A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life.	DOVES_relaxed.owl
MONDO:0100037	biolink:NamedThing	juvenile onset pityriasis rubra pilaris	A pityriasis rubra pilaris that has a juvenile onset. The peak incidence has a bimodal distribution, with the first peak at age six to seven yearss. The classical childhood-onset subtype of PRP usually develops in the late teenage years but may also be seen in the first few years of life.	DOVES_relaxed.owl
MONDO:0008261	biolink:NamedThing	hereditary sclerosing poikiloderma, Weary type		DOVES_relaxed.owl
MONDO:0015856	biolink:NamedThing	syndromic breast hypoplasia/aplasia		DOVES_relaxed.owl
MONDO:0019840	biolink:NamedThing	acropectororenal dysplasia	Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.	DOVES_relaxed.owl
MONDO:0008263	biolink:NamedThing	polycystic kidney disease 1	Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.	DOVES_relaxed.owl
MONDO:0010916	biolink:NamedThing	polycystic kidney disease 3 with or without polycystic liver disease	Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene.	DOVES_relaxed.owl
MONDO:0013131	biolink:NamedThing	polycystic kidney disease 2	Autosomal dominant polycystic kidney disease caused by a mutation in PKD2.	DOVES_relaxed.owl
MONDO:0054842	biolink:NamedThing	polycystic kidney disease 6 with or without polycystic liver disease	Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene.	DOVES_relaxed.owl
MONDO:0700000	biolink:NamedThing	ALG9-associated autosomal dominant polycystic kidney disease	Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene.	DOVES_relaxed.owl
MONDO:0017044	biolink:NamedThing	adult familial nephronophthisis-spastic quadriparesia syndrome	This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients.	DOVES_relaxed.owl
MONDO:0014860	biolink:NamedThing	polycystic liver disease 2	Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene.	DOVES_relaxed.owl
MONDO:0044327	biolink:NamedThing	polycystic liver disease 4 with or without kidney cysts	An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure.	DOVES_relaxed.owl
MONDO:0054743	biolink:NamedThing	polycystic liver disease 3 with or without kidney cysts	Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts.	DOVES_relaxed.owl
MONDO:0550003	biolink:NamedThing	SEC61B-related polycystic liver disease	Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene.	DOVES_relaxed.owl
MONDO:0008266	biolink:NamedThing	polydactyly, postaxial, type A1		DOVES_relaxed.owl
MONDO:0019673	biolink:NamedThing	postaxial polydactyly type A		DOVES_relaxed.owl
MONDO:0009893	biolink:NamedThing	polydactyly, postaxial, type A5		DOVES_relaxed.owl
MONDO:0011187	biolink:NamedThing	polydactyly, postaxial, type A2		DOVES_relaxed.owl
MONDO:0011813	biolink:NamedThing	polydactyly, postaxial, type A3		DOVES_relaxed.owl
MONDO:0012059	biolink:NamedThing	polydactyly, postaxial, type A4		DOVES_relaxed.owl
MONDO:0014090	biolink:NamedThing	polydactyly, postaxial, type A6		DOVES_relaxed.owl
MONDO:0017531	biolink:NamedThing	postaxial polydactyly type A, unilateral		DOVES_relaxed.owl
MONDO:0017532	biolink:NamedThing	postaxial polydactyly type A, bilateral		DOVES_relaxed.owl
MONDO:0029130	biolink:NamedThing	polydactyly, postaxial, type A8		DOVES_relaxed.owl
MONDO:0060550	biolink:NamedThing	polydactyly, postaxial, type a7		DOVES_relaxed.owl
MONDO:0012447	biolink:NamedThing	synpolydactyly type 3		DOVES_relaxed.owl
MONDO:0008270	biolink:NamedThing	polydactyly of a triphalangeal thumb	A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.	DOVES_relaxed.owl
MONDO:0008274	biolink:NamedThing	polyostotic fibrous dysplasia	Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome.	DOVES_relaxed.owl
MONDO:0019665	biolink:NamedThing	monostotic fibrous dysplasia	Fibrous dysplasia of bone involving only one bone.	DOVES_relaxed.owl
MONDO:0019190	biolink:NamedThing	juvenile polyposis of infancy	Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life.	DOVES_relaxed.owl
MONDO:0008289	biolink:NamedThing	brain small vessel disease 1 with or without ocular anomalies	Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene.	DOVES_relaxed.owl
MONDO:0013773	biolink:NamedThing	porencephaly 2	Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene.	DOVES_relaxed.owl
MONDO:0100105	biolink:NamedThing	brain small vessel disease 3	An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration.	DOVES_relaxed.owl
MONDO:0008290	biolink:NamedThing	porokeratosis 1, Mibelli type		DOVES_relaxed.owl
MONDO:0019141	biolink:NamedThing	porokeratosis of Mibelli	Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.	DOVES_relaxed.owl
MONDO:0008293	biolink:NamedThing	porokeratosis 3, disseminated superficial actinic type		DOVES_relaxed.owl
MONDO:0008291	biolink:NamedThing	porokeratosis plantaris palmaris et disseminata	Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized.	DOVES_relaxed.owl
MONDO:0019212	biolink:NamedThing	disseminated superficial actinic porokeratosis	Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.	DOVES_relaxed.owl
MONDO:0023246	biolink:NamedThing	linear porokeratosis	Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults.	DOVES_relaxed.owl
MONDO:0016518	biolink:NamedThing	isolated punctate palmoplantar keratoderma	A punctate palmoplantar keratoderma that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0008292	biolink:NamedThing	punctate palmoplantar keratoderma type 2	Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ("spiny keratosis") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.	DOVES_relaxed.owl
MONDO:0014574	biolink:NamedThing	peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome		DOVES_relaxed.owl
MONDO:0011900	biolink:NamedThing	porokeratosis 4, disseminated superficial actinic type		DOVES_relaxed.owl
MONDO:0012857	biolink:NamedThing	porokeratosis 5, disseminated superficial actinic type		DOVES_relaxed.owl
MONDO:0012874	biolink:NamedThing	porokeratosis 6, disseminated superficial actinic type		DOVES_relaxed.owl
MONDO:0013868	biolink:NamedThing	porokeratosis 7, multiple types		DOVES_relaxed.owl
MONDO:0014479	biolink:NamedThing	porokeratosis 8, disseminated superficial actinic type		DOVES_relaxed.owl
MONDO:0014713	biolink:NamedThing	porokeratosis 9, multiple types	Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene.	DOVES_relaxed.owl
MONDO:0008296	biolink:NamedThing	familial porphyria cutanea tarda	An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0019799	biolink:NamedThing	hepatoerythropoietic porphyria	A very rare form of chronic hepatic porphyria characterized by bullous photodermatitis.	DOVES_relaxed.owl
MONDO:0008302	biolink:NamedThing	centra precocious puberty 1	Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene.	DOVES_relaxed.owl
MONDO:0014137	biolink:NamedThing	precocious puberty, central, 2	Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.	DOVES_relaxed.owl
MONDO:0015714	biolink:NamedThing	secondary central precocious puberty		DOVES_relaxed.owl
MONDO:0008303	biolink:NamedThing	familial male-limited precocious puberty	Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.	DOVES_relaxed.owl
MONDO:0015791	biolink:NamedThing	peripheral precocious puberty	Precocious puberty caused by sex hormones.	DOVES_relaxed.owl
MONDO:0008316	biolink:NamedThing	thrombophilia due to protein C deficiency, autosomal dominant		DOVES_relaxed.owl
MONDO:0012860	biolink:NamedThing	thrombophilia due to protein C deficiency, autosomal recessive		DOVES_relaxed.owl
MONDO:0008319	biolink:NamedThing	protoporphyria, erythropoietic, 1	Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21.	DOVES_relaxed.owl
MONDO:0019263	biolink:NamedThing	autosomal erythropoietic protoporphyria	Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.	DOVES_relaxed.owl
MONDO:0060729	biolink:NamedThing	protoporphyria, erythropoietic, 2		DOVES_relaxed.owl
MONDO:0008329	biolink:NamedThing	autosomal dominant pseudohypoaldosteronism type 1	Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.	DOVES_relaxed.owl
MONDO:0019161	biolink:NamedThing	pseudohypoaldosteronism type 1	Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.	DOVES_relaxed.owl
MONDO:0009917	biolink:NamedThing	autosomal recessive pseudohypoaldosteronism type 1	Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.	DOVES_relaxed.owl
MONDO:0008668	biolink:NamedThing	von Willebrand disease 1	Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).	DOVES_relaxed.owl
MONDO:0010191	biolink:NamedThing	von Willebrand disease 3	Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).	DOVES_relaxed.owl
MONDO:0010756	biolink:NamedThing	Von Willebrand disease, X-linked form		DOVES_relaxed.owl
MONDO:0013304	biolink:NamedThing	von Willebrand disease 2	Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).	DOVES_relaxed.owl
MONDO:0008333	biolink:NamedThing	pseudoxanthoma elasticum, forme fruste	An autosomal dominant form of PXE.	DOVES_relaxed.owl
MONDO:0100091	biolink:NamedThing	inherited pseudoxanthoma elasticum	An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician.	DOVES_relaxed.owl
MONDO:0008334	biolink:NamedThing	psoriasis 1, susceptibility to	Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene.	DOVES_relaxed.owl
MONDO:0011084	biolink:NamedThing	psoriasis 3, susceptibility to		DOVES_relaxed.owl
MONDO:0011387	biolink:NamedThing	psoriasis 4, susceptibility to		DOVES_relaxed.owl
MONDO:0011434	biolink:NamedThing	psoriasis 5, susceptibility to		DOVES_relaxed.owl
MONDO:0011542	biolink:NamedThing	psoriasis 6, susceptibility to		DOVES_relaxed.owl
MONDO:0011573	biolink:NamedThing	psoriasis 7, susceptibility to		DOVES_relaxed.owl
MONDO:0011926	biolink:NamedThing	psoriasis 9, susceptibility to		DOVES_relaxed.owl
MONDO:0012542	biolink:NamedThing	psoriasis 8, susceptibility to		DOVES_relaxed.owl
MONDO:0012896	biolink:NamedThing	psoriasis 10, susceptibility to		DOVES_relaxed.owl
MONDO:0012959	biolink:NamedThing	psoriasis 11, susceptibility to		DOVES_relaxed.owl
MONDO:0013057	biolink:NamedThing	psoriasis 12, susceptibility to		DOVES_relaxed.owl
MONDO:0013554	biolink:NamedThing	psoriasis 13, susceptibility to	Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.	DOVES_relaxed.owl
MONDO:0014494	biolink:NamedThing	psoriasis 15, pustular, susceptibility to	Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene.	DOVES_relaxed.owl
MONDO:0020746	biolink:NamedThing	contractures, pterygia, and variable skeletal fusions syndrome 1B		DOVES_relaxed.owl
MONDO:0010280	biolink:NamedThing	ptosis, hereditary congenital 2		DOVES_relaxed.owl
MONDO:0043125	biolink:NamedThing	mcpherson robertson cammarano syndrome		DOVES_relaxed.owl
MONDO:0015239	biolink:NamedThing	abnormal origin of the pulmonary artery		DOVES_relaxed.owl
MONDO:0016077	biolink:NamedThing	congenital aortopulmonary window		DOVES_relaxed.owl
MONDO:0018090	biolink:NamedThing	double outlet left ventricle	Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.	DOVES_relaxed.owl
MONDO:0020064	biolink:NamedThing	pulmonary valve agenesis	Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424	DOVES_relaxed.owl
MONDO:0017031	biolink:NamedThing	primary interstitial lung disease in childhood and adulthood		DOVES_relaxed.owl
MONDO:0016323	biolink:NamedThing	chronic respiratory distress with surfactant metabolism deficiency		DOVES_relaxed.owl
MONDO:0018603	biolink:NamedThing	interstitial lung disease due to SP-C deficiency		DOVES_relaxed.owl
MONDO:0015924	biolink:NamedThing	pulmonary arterial hypertension	Pulmonary arterial hypertension (PAH) is a group of diseases characterized by mean pulmonary artery pressure >20 mmHg and elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, have overt features of venous/capillary involvement (pulmonary veno-occlusive disease, PVOD/pulmonary capillary hemangiomatosis, PCH), induced by drug or toxin (drug-or toxin-induced PAH), or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease).	DOVES_relaxed.owl
MONDO:0017149	biolink:NamedThing	drug- or toxin-induced pulmonary arterial hypertension	Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.	DOVES_relaxed.owl
MONDO:0008355	biolink:NamedThing	pyloric stenosis, infantile hypertrophic, 1		DOVES_relaxed.owl
MONDO:0010411	biolink:NamedThing	pyloric stenosis, infantile hypertrophic, 4		DOVES_relaxed.owl
MONDO:0012457	biolink:NamedThing	pyloric stenosis, infantile hypertrophic, 2		DOVES_relaxed.owl
MONDO:0012785	biolink:NamedThing	pyloric stenosis, infantile hypertrophic, 3		DOVES_relaxed.owl
MONDO:0012922	biolink:NamedThing	pyloric stenosis, infantile hypertrophic, 5		DOVES_relaxed.owl
MONDO:0015827	biolink:NamedThing	distal renal tubular acidosis	Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.	DOVES_relaxed.owl
MONDO:0009967	biolink:NamedThing	renal tubular acidosis 3		DOVES_relaxed.owl
MONDO:0043075	biolink:NamedThing	neuroaxonal dystrophy renal tubular acidosis		DOVES_relaxed.owl
MONDO:0100161	biolink:NamedThing	hyperkalemic renal tubular acidosis	Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels.	DOVES_relaxed.owl
MONDO:0017828	biolink:NamedThing	primary renal tubular acidosis		DOVES_relaxed.owl
MONDO:0009818	biolink:NamedThing	autosomal recessive osteopetrosis 3	Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.	DOVES_relaxed.owl
MONDO:0017924	biolink:NamedThing	central nervous system calcification-deafness-tubular acidosis-anemia syndrome	This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.	DOVES_relaxed.owl
MONDO:0017747	biolink:NamedThing	disorder of fucoglycosan synthesis		DOVES_relaxed.owl
MONDO:0008372	biolink:NamedThing	retinal aplasia		DOVES_relaxed.owl
MONDO:0008764	biolink:NamedThing	Leber congenital amaurosis 1	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.	DOVES_relaxed.owl
MONDO:0008765	biolink:NamedThing	Leber congenital amaurosis 2	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.	DOVES_relaxed.owl
MONDO:0011415	biolink:NamedThing	Leber congenital amaurosis 3	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene.	DOVES_relaxed.owl
MONDO:0011473	biolink:NamedThing	Leber congenital amaurosis 5	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene.	DOVES_relaxed.owl
MONDO:0012056	biolink:NamedThing	Leber congenital amaurosis 9	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene.	DOVES_relaxed.owl
MONDO:0012525	biolink:NamedThing	Leber congenital amaurosis 12	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene.	DOVES_relaxed.owl
MONDO:0012723	biolink:NamedThing	Leber congenital amaurosis 10	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene.	DOVES_relaxed.owl
MONDO:0012990	biolink:NamedThing	Leber congenital amaurosis 13	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene.	DOVES_relaxed.owl
MONDO:0013231	biolink:NamedThing	Leber congenital amaurosis 14	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene.	DOVES_relaxed.owl
MONDO:0013446	biolink:NamedThing	Leber congenital amaurosis 6	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene.	DOVES_relaxed.owl
MONDO:0013449	biolink:NamedThing	Leber congenital amaurosis 7	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene.	DOVES_relaxed.owl
MONDO:0013453	biolink:NamedThing	Leber congenital amaurosis 8	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene.	DOVES_relaxed.owl
MONDO:0013454	biolink:NamedThing	Leber congenital amaurosis 11	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene.	DOVES_relaxed.owl
MONDO:0013457	biolink:NamedThing	Leber congenital amaurosis 15	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene.	DOVES_relaxed.owl
MONDO:0013613	biolink:NamedThing	Leber congenital amaurosis 16	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.	DOVES_relaxed.owl
MONDO:0014145	biolink:NamedThing	Leber congenital amaurosis 17	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene.	DOVES_relaxed.owl
MONDO:0032794	biolink:NamedThing	leber congenital amaurosis 19		DOVES_relaxed.owl
MONDO:0060650	biolink:NamedThing	Leber congenital amaurosis with early-onset deafness		DOVES_relaxed.owl
MONDO:0008374	biolink:NamedThing	retinal cone dystrophy type 1		DOVES_relaxed.owl
MONDO:0010567	biolink:NamedThing	cone dystrophy, X-linked, with tapetal-like sheen		DOVES_relaxed.owl
MONDO:0012475	biolink:NamedThing	cone dystrophy with supernormal rod response	Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.	DOVES_relaxed.owl
MONDO:0013129	biolink:NamedThing	cone dystrophy 4	Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene.	DOVES_relaxed.owl
MONDO:0800196	biolink:NamedThing	achromatopsia 5		DOVES_relaxed.owl
MONDO:0008384	biolink:NamedThing	rheumatoid nodulosis	A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules.	DOVES_relaxed.owl
MONDO:0024281	biolink:NamedThing	juvenile chronic polyarthritis	A group of conditions used to describe polyarthritis occurring in children.	DOVES_relaxed.owl
MONDO:0008386	biolink:NamedThing	Axenfeld-Rieger syndrome type 1	A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.	DOVES_relaxed.owl
MONDO:0011097	biolink:NamedThing	Axenfeld-Rieger syndrome type 2	An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14.	DOVES_relaxed.owl
MONDO:0011233	biolink:NamedThing	Axenfeld-Rieger syndrome type 3	Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene.	DOVES_relaxed.owl
MONDO:0032800	biolink:NamedThing	robinow syndrome, autosomal recessive 2		DOVES_relaxed.owl
MONDO:0016187	biolink:NamedThing	qualitative or quantitative defects of desmin		DOVES_relaxed.owl
MONDO:0018098	biolink:NamedThing	autosomal dominant limb-girdle muscular dystrophy type 1E (DES)	Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions.	DOVES_relaxed.owl
MONDO:0010400	biolink:NamedThing	X-linked scapuloperoneal muscular dystrophy	X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging.	DOVES_relaxed.owl
MONDO:0008417	biolink:NamedThing	sclerocornea, autosomal dominant		DOVES_relaxed.owl
MONDO:0019629	biolink:NamedThing	sclerocornea	A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.	DOVES_relaxed.owl
MONDO:0014306	biolink:NamedThing	vasculitis due to ADA2 deficiency	Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.	DOVES_relaxed.owl
MONDO:0014405	biolink:NamedThing	STING-associated vasculopathy with onset in infancy	STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.	DOVES_relaxed.owl
MONDO:0016866	biolink:NamedThing	partial deletion of chromosome 1		DOVES_relaxed.owl
MONDO:0016867	biolink:NamedThing	partial deletion of chromosome 2		DOVES_relaxed.owl
MONDO:0016868	biolink:NamedThing	partial deletion of chromosome 3		DOVES_relaxed.owl
MONDO:0016869	biolink:NamedThing	partial deletion of chromosome 4		DOVES_relaxed.owl
MONDO:0016870	biolink:NamedThing	partial deletion of chromosome 5		DOVES_relaxed.owl
MONDO:0016871	biolink:NamedThing	partial deletion of chromosome 6		DOVES_relaxed.owl
MONDO:0016872	biolink:NamedThing	partial deletion of chromosome 7		DOVES_relaxed.owl
MONDO:0016873	biolink:NamedThing	partial deletion of chromosome 8		DOVES_relaxed.owl
MONDO:0016875	biolink:NamedThing	partial deletion of chromosome 10		DOVES_relaxed.owl
MONDO:0016876	biolink:NamedThing	partial deletion of chromosome 11		DOVES_relaxed.owl
MONDO:0016878	biolink:NamedThing	partial deletion of chromosome 16		DOVES_relaxed.owl
MONDO:0016879	biolink:NamedThing	partial deletion of chromosome 17		DOVES_relaxed.owl
MONDO:0016881	biolink:NamedThing	partial deletion of chromosome 19		DOVES_relaxed.owl
MONDO:0016882	biolink:NamedThing	partial deletion of chromosome 20		DOVES_relaxed.owl
MONDO:0016911	biolink:NamedThing	partial deletion of the long arm of chromosome 13	A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13.	DOVES_relaxed.owl
MONDO:0016912	biolink:NamedThing	partial deletion of the long arm of chromosome 14	Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14.	DOVES_relaxed.owl
MONDO:0016913	biolink:NamedThing	partial deletion of the long arm of chromosome 15		DOVES_relaxed.owl
MONDO:0016919	biolink:NamedThing	partial deletion of the long arm of chromosome 21		DOVES_relaxed.owl
MONDO:0017277	biolink:NamedThing	partial deletion of chromosome 12		DOVES_relaxed.owl
MONDO:0022760	biolink:NamedThing	chromosome 22q deletion		DOVES_relaxed.owl
MONDO:0008437	biolink:NamedThing	hereditary spastic paraplegia 3A	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene.	DOVES_relaxed.owl
MONDO:0017914	biolink:NamedThing	pure or complex autosomal dominant spastic paraplegia		DOVES_relaxed.owl
MONDO:0008438	biolink:NamedThing	hereditary spastic paraplegia 4	Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.	DOVES_relaxed.owl
MONDO:0010878	biolink:NamedThing	hereditary spastic paraplegia 6	Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.	DOVES_relaxed.owl
MONDO:0011408	biolink:NamedThing	hereditary spastic paraplegia 10	Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.	DOVES_relaxed.owl
MONDO:0011532	biolink:NamedThing	hereditary spastic paraplegia 13	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene.	DOVES_relaxed.owl
MONDO:0012453	biolink:NamedThing	hereditary spastic paraplegia 31	A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.	DOVES_relaxed.owl
MONDO:0012476	biolink:NamedThing	hereditary spastic paraplegia 30	Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.	DOVES_relaxed.owl
MONDO:0008439	biolink:NamedThing	spastic paraplegia-epilepsy-intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0008440	biolink:NamedThing	spastic paraplegia-nephritis-deafness syndrome	This syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy.	DOVES_relaxed.owl
MONDO:0008442	biolink:NamedThing	spastic paraplegia-neuropathy-poikiloderma syndrome	Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.	DOVES_relaxed.owl
MONDO:0008443	biolink:NamedThing	spastic paraplegia-precocious puberty syndrome	Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.	DOVES_relaxed.owl
MONDO:0010043	biolink:NamedThing	hereditary spastic paraplegia 17	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.	DOVES_relaxed.owl
MONDO:0012334	biolink:NamedThing	hereditary spastic paraplegia 29	Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.	DOVES_relaxed.owl
MONDO:0012867	biolink:NamedThing	hereditary spastic paraplegia 38	A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15.	DOVES_relaxed.owl
MONDO:0013132	biolink:NamedThing	hereditary spastic paraplegia 36	Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.	DOVES_relaxed.owl
MONDO:0015091	biolink:NamedThing	autosomal dominant spastic paraplegia type 9	Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.	DOVES_relaxed.owl
MONDO:0017275	biolink:NamedThing	spastic paraplegia-facial-cutaneous lesions syndrome	Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.	DOVES_relaxed.owl
MONDO:0018005	biolink:NamedThing	spastic paraplegia-Paget disease of bone syndrome	Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.	DOVES_relaxed.owl
MONDO:0008448	biolink:NamedThing	spheroid body myopathy	Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.	DOVES_relaxed.owl
MONDO:0012296	biolink:NamedThing	lipomyelomeningocele	Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.	DOVES_relaxed.owl
MONDO:0017084	biolink:NamedThing	leptomyelolipoma	Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.	DOVES_relaxed.owl
MONDO:0018968	biolink:NamedThing	iniencephaly	Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.	DOVES_relaxed.owl
MONDO:0008450	biolink:NamedThing	spinal arachnoiditis	A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.	DOVES_relaxed.owl
MONDO:0010839	biolink:NamedThing	autosomal dominant congenital benign spinal muscular atrophy	Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.	DOVES_relaxed.owl
MONDO:0013711	biolink:NamedThing	peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		DOVES_relaxed.owl
MONDO:0015353	biolink:NamedThing	neuronopathy, distal hereditary motor, type 5A		DOVES_relaxed.owl
MONDO:0008453	biolink:NamedThing	adult-onset proximal spinal muscular atrophy, autosomal dominant		DOVES_relaxed.owl
MONDO:0014025	biolink:NamedThing	lower motor neuron syndrome with late-adult onset		DOVES_relaxed.owl
MONDO:0008454	biolink:NamedThing	spinal intradural arachnoid cysts	Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery.	DOVES_relaxed.owl
MONDO:0008813	biolink:NamedThing	arachnoid cyst	Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)	DOVES_relaxed.owl
MONDO:0100129	biolink:NamedThing	intracranial arachoid cyst	A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid.	DOVES_relaxed.owl
MONDO:0010736	biolink:NamedThing	split hand-foot malformation 2	A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26.	DOVES_relaxed.owl
MONDO:0011709	biolink:NamedThing	split hand-foot malformation 5	Split-hand/foot malformation mapped to chromosome 2q31.	DOVES_relaxed.owl
MONDO:0008469	biolink:NamedThing	spondyloepimetaphyseal dysplasia-hypotrichosis syndrome	A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.	DOVES_relaxed.owl
MONDO:0010068	biolink:NamedThing	spondyloepimetaphyseal dysplasia, sponastrime type	A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.	DOVES_relaxed.owl
MONDO:0010076	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Irapa type	A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.	DOVES_relaxed.owl
MONDO:0010077	biolink:NamedThing	spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.	DOVES_relaxed.owl
MONDO:0010275	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Bieganski type	A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.	DOVES_relaxed.owl
MONDO:0011124	biolink:NamedThing	spondyloepimetaphyseal dysplasia-abnormal dentition syndrome	A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.	DOVES_relaxed.owl
MONDO:0011252	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Shohat type	A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.	DOVES_relaxed.owl
MONDO:0012108	biolink:NamedThing	spondyloepimetaphyseal dysplasia, matrilin-3 type	A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.	DOVES_relaxed.owl
MONDO:0012495	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Genevieve type	A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.	DOVES_relaxed.owl
MONDO:0013014	biolink:NamedThing	spondyloepimetaphyseal dysplasia, aggrecan type	A spondyloepimetaphyseal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.	DOVES_relaxed.owl
MONDO:0013233	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Handigodu type	A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging.	DOVES_relaxed.owl
MONDO:0018254	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Isidor type		DOVES_relaxed.owl
MONDO:0019675	biolink:NamedThing	spondyloepimetaphyseal dysplasia with joint laxity	A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.	DOVES_relaxed.owl
MONDO:0032571	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Krakow type		DOVES_relaxed.owl
MONDO:0060702	biolink:NamedThing	spondyloepimetaphyseal dysplasia, di rocco type		DOVES_relaxed.owl
MONDO:0010073	biolink:NamedThing	spondyloepiphyseal dysplasia tarda, Kohn type	Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.	DOVES_relaxed.owl
MONDO:0010737	biolink:NamedThing	spondyloepiphyseal dysplasia tarda, X-linked	X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.	DOVES_relaxed.owl
MONDO:0010815	biolink:NamedThing	spondyloepiphyseal dysplasia tarda with characteristic facies		DOVES_relaxed.owl
MONDO:0012219	biolink:NamedThing	spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type		DOVES_relaxed.owl
MONDO:0008483	biolink:NamedThing	stuttering, familial persistent, 1		DOVES_relaxed.owl
MONDO:0012232	biolink:NamedThing	stuttering, familial persistent, 2		DOVES_relaxed.owl
MONDO:0013841	biolink:NamedThing	stuttering, familial persistent, 3		DOVES_relaxed.owl
MONDO:0013844	biolink:NamedThing	stuttering, familial persistent, 4		DOVES_relaxed.owl
MONDO:0016953	biolink:NamedThing	partial duplication of the long arm of chromosome 2	Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0013363	biolink:NamedThing	chromosome 2q31.1 duplication syndrome		DOVES_relaxed.owl
MONDO:0017786	biolink:NamedThing	2q23.1 microduplication syndrome	2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.	DOVES_relaxed.owl
MONDO:0019877	biolink:NamedThing	distal trisomy 2q	Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.	DOVES_relaxed.owl
MONDO:0008519	biolink:NamedThing	multiple synostoses syndrome 1	Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene.	DOVES_relaxed.owl
MONDO:0012394	biolink:NamedThing	multiple synostoses syndrome 2	Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.	DOVES_relaxed.owl
MONDO:0013064	biolink:NamedThing	multiple synostoses syndrome 3	Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.	DOVES_relaxed.owl
MONDO:0054752	biolink:NamedThing	multiple synostoses syndrome 4		DOVES_relaxed.owl
MONDO:0014758	biolink:NamedThing	radioulnar synostosis with amegakaryocytic thrombocytopenia 2	Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.	DOVES_relaxed.owl
MONDO:0024558	biolink:NamedThing	radioulnar synostosis with amegakaryocytic thrombocytopenia 1	Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene.	DOVES_relaxed.owl
MONDO:0008525	biolink:NamedThing	syringomyelia, isolated		DOVES_relaxed.owl
MONDO:0020508	biolink:NamedThing	primary syringomyelia		DOVES_relaxed.owl
MONDO:0008535	biolink:NamedThing	telangiectasia, hereditary hemorrhagic, type 1		DOVES_relaxed.owl
MONDO:0010880	biolink:NamedThing	telangiectasia, hereditary hemorrhagic, type 2	Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.	DOVES_relaxed.owl
MONDO:0010996	biolink:NamedThing	hereditary hemorrhagic telangiectasia type 3		DOVES_relaxed.owl
MONDO:0012532	biolink:NamedThing	hereditary hemorrhagic telangiectasia type 4		DOVES_relaxed.owl
MONDO:0014217	biolink:NamedThing	telangiectasia, hereditary hemorrhagic, type 5	Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.	DOVES_relaxed.owl
MONDO:0020164	biolink:NamedThing	epicanthal fold		DOVES_relaxed.owl
MONDO:0016425	biolink:NamedThing	Hughes-Stovin syndrome	Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of BehC'et's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.	DOVES_relaxed.owl
MONDO:0016848	biolink:NamedThing	juvenile temporal arteritis	Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs.	DOVES_relaxed.owl
MONDO:0008545	biolink:NamedThing	thalassemia, beta+, silent allele		DOVES_relaxed.owl
MONDO:0019402	biolink:NamedThing	beta thalassemia	Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).	DOVES_relaxed.owl
MONDO:0011381	biolink:NamedThing	dominant beta-thalassemia	Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.	DOVES_relaxed.owl
MONDO:0013517	biolink:NamedThing	beta-thalassemia HBB/LCRB	Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.	DOVES_relaxed.owl
MONDO:0010114	biolink:NamedThing	thanatophoric dysplasia, Glasgow variant		DOVES_relaxed.owl
MONDO:0800356	biolink:NamedThing	short-rib thoracic dysplasia 7/20 with polydactyly, digenic		DOVES_relaxed.owl
MONDO:0011173	biolink:NamedThing	thrombocythemia 2	Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene.	DOVES_relaxed.owl
MONDO:0013794	biolink:NamedThing	thrombocythemia 3	Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene.	DOVES_relaxed.owl
MONDO:0008555	biolink:NamedThing	thrombocytopenia 2	An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.	DOVES_relaxed.owl
MONDO:0015679	biolink:NamedThing	autosomal thrombocytopenia with normal platelets		DOVES_relaxed.owl
MONDO:0010120	biolink:NamedThing	thrombocytopenia 3		DOVES_relaxed.owl
MONDO:0012775	biolink:NamedThing	thrombocytopenia 4	Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.	DOVES_relaxed.owl
MONDO:0008556	biolink:NamedThing	thrombocytopenia, cyclic		DOVES_relaxed.owl
MONDO:0010308	biolink:NamedThing	thrombocytopenia, X-linked, with or without dyserythropoietic anemia	An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.	DOVES_relaxed.owl
MONDO:0014536	biolink:NamedThing	thrombocytopenia 5	Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.	DOVES_relaxed.owl
MONDO:0018796	biolink:NamedThing	isolated constitutional thrombocytopenia		DOVES_relaxed.owl
MONDO:0030867	biolink:NamedThing	thrombocytopenia 7		DOVES_relaxed.owl
MONDO:0031447	biolink:NamedThing	macrothrombocytopenia, isolated		DOVES_relaxed.owl
MONDO:0008558	biolink:NamedThing	autoimmune thrombocytopenic purpura	An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin.	DOVES_relaxed.owl
MONDO:0009451	biolink:NamedThing	Nezelof syndrome		DOVES_relaxed.owl
MONDO:0011312	biolink:NamedThing	thyroid carcinoma, nonmedullary, with or without cell oxyphilia		DOVES_relaxed.owl
MONDO:0011368	biolink:NamedThing	papillary thyroid Microcarcinoma	A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population.	DOVES_relaxed.owl
MONDO:0011653	biolink:NamedThing	thyroid cancer, nonmedullary, 3		DOVES_relaxed.owl
MONDO:0019854	biolink:NamedThing	thyroid ectopia	Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.	DOVES_relaxed.owl
MONDO:0019855	biolink:NamedThing	athyreosis	Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.	DOVES_relaxed.owl
MONDO:0019860	biolink:NamedThing	thyroid hemiagenesis	Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.	DOVES_relaxed.owl
MONDO:0019861	biolink:NamedThing	thyroid hypoplasia	Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.	DOVES_relaxed.owl
MONDO:0008571	biolink:NamedThing	Blount disease, infantile		DOVES_relaxed.owl
MONDO:0009800	biolink:NamedThing	Blount disease, adolescent		DOVES_relaxed.owl
MONDO:0008586	biolink:NamedThing	esophageal atresia/tracheoesophageal fistula	Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea.	DOVES_relaxed.owl
MONDO:0015207	biolink:NamedThing	non-syndromic esophageal malformation	A esophageal malformation that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0019619	biolink:NamedThing	duplication of the esophagus		DOVES_relaxed.owl
MONDO:0019620	biolink:NamedThing	congenital esophageal diverticulum	Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations.	DOVES_relaxed.owl
MONDO:0008590	biolink:NamedThing	tremor, hereditary essential, 1	Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene.	DOVES_relaxed.owl
MONDO:0011201	biolink:NamedThing	tremor, hereditary essential, 2		DOVES_relaxed.owl
MONDO:0012671	biolink:NamedThing	tremor, hereditary essential, 3		DOVES_relaxed.owl
MONDO:0013888	biolink:NamedThing	tremor, hereditary essential, 4	Any essential tremor in which the cause of the disease is a mutation in the FUS gene.	DOVES_relaxed.owl
MONDO:0014756	biolink:NamedThing	tremor, hereditary essential, 5	Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene.	DOVES_relaxed.owl
MONDO:0030027	biolink:NamedThing	tremor, hereditary essential, 6		DOVES_relaxed.owl
MONDO:0008596	biolink:NamedThing	trichorhinophalangeal syndrome type I	An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.	DOVES_relaxed.owl
MONDO:0008597	biolink:NamedThing	trichorhinophalangeal syndrome, type III	A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.	DOVES_relaxed.owl
MONDO:0008601	biolink:NamedThing	triglyceride storage disease, type 1		DOVES_relaxed.owl
MONDO:0008602	biolink:NamedThing	triglyceride storage disease, type 2		DOVES_relaxed.owl
MONDO:0008603	biolink:NamedThing	trigonocephaly 1	Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.	DOVES_relaxed.owl
MONDO:0013774	biolink:NamedThing	trigonocephaly 2	Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene.	DOVES_relaxed.owl
MONDO:0008608	biolink:NamedThing	Down syndrome	Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.	DOVES_relaxed.owl
MONDO:0700124	biolink:NamedThing	chromosome 21 disorder	Chromosomal disorder in which chromosome 21 is affected.	DOVES_relaxed.owl
MONDO:0015437	biolink:NamedThing	ring chromosome 21	Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.	DOVES_relaxed.owl
MONDO:0018930	biolink:NamedThing	monosomy 21	Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.	DOVES_relaxed.owl
MONDO:0019864	biolink:NamedThing	tetrasomy 21	Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.	DOVES_relaxed.owl
MONDO:0019918	biolink:NamedThing	maternal uniparental disomy of chromosome 21		DOVES_relaxed.owl
MONDO:0019925	biolink:NamedThing	paternal uniparental disomy of chromosome 21	Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	DOVES_relaxed.owl
MONDO:0008612	biolink:NamedThing	tuberous sclerosis 1	Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene).	DOVES_relaxed.owl
MONDO:0013199	biolink:NamedThing	tuberous sclerosis 2	Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).	DOVES_relaxed.owl
MONDO:0011776	biolink:NamedThing	CINCA syndrome	Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.	DOVES_relaxed.owl
MONDO:0012726	biolink:NamedThing	autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.	DOVES_relaxed.owl
MONDO:0008652	biolink:NamedThing	congenital vertical talus	Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.	DOVES_relaxed.owl
MONDO:0008653	biolink:NamedThing	vesicoureteral reflux 1		DOVES_relaxed.owl
MONDO:0010755	biolink:NamedThing	vesicoureteral reflux, X-linked		DOVES_relaxed.owl
MONDO:0012573	biolink:NamedThing	vesicoureteral reflux 2	Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene.	DOVES_relaxed.owl
MONDO:0013356	biolink:NamedThing	vesicoureteral reflux 3	Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene.	DOVES_relaxed.owl
MONDO:0013682	biolink:NamedThing	vesicoureteral reflux 4		DOVES_relaxed.owl
MONDO:0013683	biolink:NamedThing	vesicoureteral reflux 5		DOVES_relaxed.owl
MONDO:0013684	biolink:NamedThing	vesicoureteral reflux 6		DOVES_relaxed.owl
MONDO:0014161	biolink:NamedThing	vesicoureteral reflux 7		DOVES_relaxed.owl
MONDO:0014422	biolink:NamedThing	vesicoureteral reflux 8	Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene.	DOVES_relaxed.owl
MONDO:0008659	biolink:NamedThing	transcobalamin I deficiency		DOVES_relaxed.owl
MONDO:0019220	biolink:NamedThing	inborn disorder of cobalamin metabolism and transport		DOVES_relaxed.owl
MONDO:0009852	biolink:NamedThing	hereditary intrinsic factor deficiency	Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.	DOVES_relaxed.owl
MONDO:0010149	biolink:NamedThing	transcobalamin II deficiency	Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.	DOVES_relaxed.owl
MONDO:0013341	biolink:NamedThing	methylmalonic acidemia due to transcobalamin receptor defect	Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.	DOVES_relaxed.owl
MONDO:0100463	biolink:NamedThing	methylmalonic aciduria and/or homocystinuria, cblD type	An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders.	DOVES_relaxed.owl
MONDO:0020720	biolink:NamedThing	X-linked hypophosphatemic rickets		DOVES_relaxed.owl
MONDO:0008671	biolink:NamedThing	Waardenburg syndrome type 2A	Waardenburg syndrome Type 2 caused by mutations in the MITF gene.	DOVES_relaxed.owl
MONDO:0010841	biolink:NamedThing	Waardenburg syndrome type 2B		DOVES_relaxed.owl
MONDO:0011697	biolink:NamedThing	Waardenburg syndrome type 2C	A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23.	DOVES_relaxed.owl
MONDO:0012144	biolink:NamedThing	Waardenburg syndrome type 2D	Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene.	DOVES_relaxed.owl
MONDO:0012698	biolink:NamedThing	Waardenburg syndrome type 2E	Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene.	DOVES_relaxed.owl
MONDO:0008672	biolink:NamedThing	Watson syndrome	Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual.	DOVES_relaxed.owl
MONDO:0008676	biolink:NamedThing	white sponge nevus 1	Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene.	DOVES_relaxed.owl
MONDO:0014346	biolink:NamedThing	white sponge nevus 2		DOVES_relaxed.owl
MONDO:0016906	biolink:NamedThing	partial deletion of the long arm of chromosome 7	Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0013393	biolink:NamedThing	distal 7q11.23 microdeletion syndrome	Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).	DOVES_relaxed.owl
MONDO:0015580	biolink:NamedThing	distal monosomy 7q36	Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.	DOVES_relaxed.owl
MONDO:0016656	biolink:NamedThing	7q31 microdeletion syndrome		DOVES_relaxed.owl
MONDO:0010396	biolink:NamedThing	developmental and epileptic encephalopathy, 2	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.	DOVES_relaxed.owl
MONDO:0008679	biolink:NamedThing	Wilms tumor 1		DOVES_relaxed.owl
MONDO:0008680	biolink:NamedThing	Wilms tumor 2		DOVES_relaxed.owl
MONDO:0008683	biolink:NamedThing	Wilms tumor 3		DOVES_relaxed.owl
MONDO:0011056	biolink:NamedThing	Wilms tumor 4		DOVES_relaxed.owl
MONDO:0011112	biolink:NamedThing	Wilms tumor 5	Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene.	DOVES_relaxed.owl
MONDO:0014779	biolink:NamedThing	Wilms tumor 6	Any Wilms tumor in which the cause of the disease is a mutation in the REST gene.	DOVES_relaxed.owl
MONDO:0016893	biolink:NamedThing	partial deletion of the short arm of chromosome 11		DOVES_relaxed.owl
MONDO:0011678	biolink:NamedThing	homozygous 11P15-p14 deletion syndrome		DOVES_relaxed.owl
MONDO:0014825	biolink:NamedThing	chromosome 11p13 deletion syndrome, distal		DOVES_relaxed.owl
MONDO:0016477	biolink:NamedThing	Beckwith-Wiedemann syndrome due to 11p15 microdeletion		DOVES_relaxed.owl
MONDO:0022762	biolink:NamedThing	chromosome 4 short arm deletion		DOVES_relaxed.owl
MONDO:0008688	biolink:NamedThing	WT limb-blood syndrome	WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0013851	biolink:NamedThing	autosomal dominant aplasia and myelodysplasia		DOVES_relaxed.owl
MONDO:0014317	biolink:NamedThing	pancytopenia-developmental delay syndrome		DOVES_relaxed.owl
MONDO:0018340	biolink:NamedThing	hereditary isolated aplastic anemia		DOVES_relaxed.owl
MONDO:0008689	biolink:NamedThing	dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema		DOVES_relaxed.owl
MONDO:0014737	biolink:NamedThing	dehydrated hereditary stomatocytosis 2	Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene.	DOVES_relaxed.owl
MONDO:0008690	biolink:NamedThing	xeroderma pigmentosum, autosomal dominant, mild		DOVES_relaxed.owl
MONDO:0010210	biolink:NamedThing	xeroderma pigmentosum group A	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.	DOVES_relaxed.owl
MONDO:0010211	biolink:NamedThing	xeroderma pigmentosum group C	An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.	DOVES_relaxed.owl
MONDO:0010212	biolink:NamedThing	xeroderma pigmentosum group D	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.	DOVES_relaxed.owl
MONDO:0010213	biolink:NamedThing	xeroderma pigmentosum group E	An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.	DOVES_relaxed.owl
MONDO:0010214	biolink:NamedThing	xeroderma pigmentosum variant type	Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.	DOVES_relaxed.owl
MONDO:0010215	biolink:NamedThing	xeroderma pigmentosum group F	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene.	DOVES_relaxed.owl
MONDO:0010216	biolink:NamedThing	xeroderma pigmentosum group G	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.	DOVES_relaxed.owl
MONDO:0012531	biolink:NamedThing	xeroderma pigmentosum group B	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene.	DOVES_relaxed.owl
MONDO:0009528	biolink:NamedThing	chylomicron retention disease	Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.	DOVES_relaxed.owl
MONDO:0017774	biolink:NamedThing	hypobetalipoproteinemia	A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.	DOVES_relaxed.owl
MONDO:0011505	biolink:NamedThing	familial hypobetalipoproteinemia 2	Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.	DOVES_relaxed.owl
MONDO:0014252	biolink:NamedThing	familial hypobetalipoproteinemia 1	Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene.	DOVES_relaxed.owl
MONDO:0020044	biolink:NamedThing	autosomal recessive metabolic cerebellar ataxia		DOVES_relaxed.owl
MONDO:0016614	biolink:NamedThing	autosomal recessive ataxia due to PEX10 deficiency		DOVES_relaxed.owl
MONDO:0018189	biolink:NamedThing	autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.	DOVES_relaxed.owl
MONDO:0019791	biolink:NamedThing	recessive mitochondrial ataxia syndrome		DOVES_relaxed.owl
MONDO:0011671	biolink:NamedThing	Huntington disease-like 2	Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities.	DOVES_relaxed.owl
MONDO:0018945	biolink:NamedThing	McLeod neuroacanthocytosis syndrome	A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.	DOVES_relaxed.owl
MONDO:0015167	biolink:NamedThing	amniotic band syndrome	A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.	DOVES_relaxed.owl
MONDO:0017422	biolink:NamedThing	adactyly of hand		DOVES_relaxed.owl
MONDO:0017443	biolink:NamedThing	congenital absence of both forearm and hand	Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.	DOVES_relaxed.owl
MONDO:0017444	biolink:NamedThing	congenital absence of both lower leg and foot		DOVES_relaxed.owl
MONDO:0017445	biolink:NamedThing	acheiria		DOVES_relaxed.owl
MONDO:0017446	biolink:NamedThing	apodia		DOVES_relaxed.owl
MONDO:0018563	biolink:NamedThing	adactyly of foot		DOVES_relaxed.owl
MONDO:0008701	biolink:NamedThing	achondrogenesis type IA	Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.	DOVES_relaxed.owl
MONDO:0009785	biolink:NamedThing	opsismodysplasia	Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0008705	biolink:NamedThing	lysosomal acid phosphatase deficiency		DOVES_relaxed.owl
MONDO:0009296	biolink:NamedThing	glycoprotein storage disease		DOVES_relaxed.owl
MONDO:0013342	biolink:NamedThing	hereditary spastic paraplegia 48	Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.	DOVES_relaxed.owl
MONDO:0017731	biolink:NamedThing	glycoproteinosis		DOVES_relaxed.owl
MONDO:0017736	biolink:NamedThing	disorder of sialic acid metabolism		DOVES_relaxed.owl
MONDO:0017738	biolink:NamedThing	lysosomal glycogen storage disease		DOVES_relaxed.owl
MONDO:0019246	biolink:NamedThing	inborn disorder of lysosomal amino acid transport		DOVES_relaxed.owl
MONDO:0008710	biolink:NamedThing	RAB23-related Carpenter syndrome	Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.	DOVES_relaxed.owl
MONDO:0013998	biolink:NamedThing	MEGF8-related Carpenter syndrome	Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.	DOVES_relaxed.owl
MONDO:0017764	biolink:NamedThing	disorder of zinc metabolism		DOVES_relaxed.owl
MONDO:0016676	biolink:NamedThing	recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome	Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.	DOVES_relaxed.owl
MONDO:0008720	biolink:NamedThing	congenital isolated adrenocorticotropic hormone deficiency	A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.	DOVES_relaxed.owl
MONDO:0019824	biolink:NamedThing	non-acquired pituitary hormone deficiency		DOVES_relaxed.owl
MONDO:0010139	biolink:NamedThing	isolated thyroid-stimulating hormone deficiency	Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.	DOVES_relaxed.owl
MONDO:0014403	biolink:NamedThing	short stature due to GHSR deficiency	Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.	DOVES_relaxed.owl
MONDO:0008721	biolink:NamedThing	medium chain acyl-CoA dehydrogenase deficiency	Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.	DOVES_relaxed.owl
MONDO:0017714	biolink:NamedThing	acyl-CoA dehydrogenase deficiency		DOVES_relaxed.owl
MONDO:0018014	biolink:NamedThing	transient neonatal multiple acyl-CoA dehydrogenase deficiency	Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.	DOVES_relaxed.owl
MONDO:0008723	biolink:NamedThing	very long chain acyl-CoA dehydrogenase deficiency	An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.	DOVES_relaxed.owl
MONDO:0017974	biolink:NamedThing	46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors		DOVES_relaxed.owl
MONDO:0023601	biolink:NamedThing	non-classic congenital adrenal hyperplasia	A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement.	DOVES_relaxed.owl
MONDO:0060783	biolink:NamedThing	classic congenital adrenal hyperplasia	A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement.	DOVES_relaxed.owl
MONDO:0014342	biolink:NamedThing	female infertility due to zona pellucida defect	Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.	DOVES_relaxed.owl
MONDO:0015839	biolink:NamedThing	septate uterus		DOVES_relaxed.owl
MONDO:0015844	biolink:NamedThing	agenesis and aplasia of uterine body		DOVES_relaxed.owl
MONDO:0015845	biolink:NamedThing	uterine cervical aplasia and agenesis		DOVES_relaxed.owl
MONDO:0016012	biolink:NamedThing	diethylstilbestrol syndrome	Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.	DOVES_relaxed.owl
MONDO:0016281	biolink:NamedThing	46,XX ovotesticular disorder of sex development	46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.	DOVES_relaxed.owl
MONDO:0019007	biolink:NamedThing	vaginal atresia		DOVES_relaxed.owl
MONDO:0019932	biolink:NamedThing	isolated partial vaginal agenesis	Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.	DOVES_relaxed.owl
MONDO:0044626	biolink:NamedThing	female infertility due to oocyte meiotic arrest		DOVES_relaxed.owl
MONDO:0008726	biolink:NamedThing	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		DOVES_relaxed.owl
MONDO:0020667	biolink:NamedThing	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		DOVES_relaxed.owl
MONDO:0008732	biolink:NamedThing	adrenal hypoplasia, cytomegalic type		DOVES_relaxed.owl
MONDO:0008735	biolink:NamedThing	adrenocortical unresponsiveness to ACTH with postreceptor defect		DOVES_relaxed.owl
MONDO:0011826	biolink:NamedThing	glucocorticoid deficiency 2	Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene.	DOVES_relaxed.owl
MONDO:0012214	biolink:NamedThing	glucocorticoid deficiency 3		DOVES_relaxed.owl
MONDO:0013874	biolink:NamedThing	glucocorticoid deficiency 4	Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene.	DOVES_relaxed.owl
MONDO:0024536	biolink:NamedThing	glucocorticoid deficiency 1	Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene.	DOVES_relaxed.owl
MONDO:0040502	biolink:NamedThing	glucocorticoid deficiency 5		DOVES_relaxed.owl
MONDO:0008736	biolink:NamedThing	peroxisome biogenesis disorder 2B		DOVES_relaxed.owl
MONDO:0100262	biolink:NamedThing	peroxisome biogenesis disorder due to PEX5 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene.	DOVES_relaxed.owl
MONDO:0008954	biolink:NamedThing	peroxisome biogenesis disorder 2A (Zellweger)		DOVES_relaxed.owl
MONDO:0008737	biolink:NamedThing	congenital afibrinogenemia	Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.	DOVES_relaxed.owl
MONDO:0014452	biolink:NamedThing	familial dysfibrinogenemia	Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.	DOVES_relaxed.owl
MONDO:0010294	biolink:NamedThing	X-linked severe congenital neutropenia	This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.	DOVES_relaxed.owl
MONDO:0030726	biolink:NamedThing	neutropenia, severe congenital, 9, autosomal dominant		DOVES_relaxed.owl
MONDO:0032899	biolink:NamedThing	neutropenia, severe congenital, 8, autosomal dominant		DOVES_relaxed.owl
MONDO:0008745	biolink:NamedThing	oculocutaneous albinism type 1A	Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.	DOVES_relaxed.owl
MONDO:0018136	biolink:NamedThing	minimal pigment oculocutaneous albinism type 1	Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.	DOVES_relaxed.owl
MONDO:0018137	biolink:NamedThing	temperature-sensitive oculocutaneous albinism type 1	Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).	DOVES_relaxed.owl
MONDO:0008746	biolink:NamedThing	oculocutaneous albinism type 2	Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.	DOVES_relaxed.owl
MONDO:0008747	biolink:NamedThing	oculocutaneous albinism type 3	Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.	DOVES_relaxed.owl
MONDO:0011683	biolink:NamedThing	oculocutaneous albinism type 4	Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.	DOVES_relaxed.owl
MONDO:0014070	biolink:NamedThing	oculocutaneous albinism type 7	Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.	DOVES_relaxed.owl
MONDO:0014127	biolink:NamedThing	oculocutaneous albinism type 5	Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.	DOVES_relaxed.owl
MONDO:0018264	biolink:NamedThing	oculocutaneous albinism type 6	A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.	DOVES_relaxed.owl
MONDO:0030899	biolink:NamedThing	oculocutaneous albinism type 8		DOVES_relaxed.owl
MONDO:0008748	biolink:NamedThing	Hermansky-Pudlak syndrome 1	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.	DOVES_relaxed.owl
MONDO:0016501	biolink:NamedThing	Hermansky-Pudlak syndrome with pulmonary fibrosis	Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.	DOVES_relaxed.owl
MONDO:0013556	biolink:NamedThing	Hermansky-Pudlak syndrome 4	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene.	DOVES_relaxed.owl
MONDO:0008751	biolink:NamedThing	corticosterone methyloxidase type 1 deficiency		DOVES_relaxed.owl
MONDO:0020489	biolink:NamedThing	familial hyperreninemic hypoaldosteronism type 1		DOVES_relaxed.owl
MONDO:0012524	biolink:NamedThing	corticosterone methyloxidase type 2 deficiency		DOVES_relaxed.owl
MONDO:0008843	biolink:NamedThing	atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome	Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed.	DOVES_relaxed.owl
MONDO:0020070	biolink:NamedThing	neonatal epilepsy syndrome		DOVES_relaxed.owl
MONDO:0020071	biolink:NamedThing	infantile epilepsy syndrome	An epilepsy syndrome that occurs between 28 days to one year of life.	DOVES_relaxed.owl
MONDO:0020073	biolink:NamedThing	adolescent-onset epilepsy syndrome		DOVES_relaxed.owl
MONDO:0100022	biolink:NamedThing	neonatal/infantile epilepsy syndrome	An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.	DOVES_relaxed.owl
MONDO:0016808	biolink:NamedThing	mitochondrial DNA depletion syndrome, hepatocerebral form		DOVES_relaxed.owl
MONDO:0009747	biolink:NamedThing	Navajo neurohepatopathy		DOVES_relaxed.owl
MONDO:0010060	biolink:NamedThing	infantile onset spinocerebellar ataxia	Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.	DOVES_relaxed.owl
MONDO:0018197	biolink:NamedThing	mitochondrial DNA depletion syndrome, hepatocerebrorenal form		DOVES_relaxed.owl
MONDO:0010151	biolink:NamedThing	tricarboxylic acid cycle, defect of		DOVES_relaxed.owl
MONDO:0009371	biolink:NamedThing	3-hydroxyisobutyric aciduria	3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.	DOVES_relaxed.owl
MONDO:0009475	biolink:NamedThing	isovaleric acidemia	Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.	DOVES_relaxed.owl
MONDO:0009520	biolink:NamedThing	3-hydroxy-3-methylglutaric aciduria	3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.	DOVES_relaxed.owl
MONDO:0009603	biolink:NamedThing	3-hydroxyisobutyryl-CoA hydrolase deficiency	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.	DOVES_relaxed.owl
MONDO:0009612	biolink:NamedThing	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.	DOVES_relaxed.owl
MONDO:0011628	biolink:NamedThing	propionic acidemia	Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.	DOVES_relaxed.owl
MONDO:0012392	biolink:NamedThing	2-methylbutyryl-CoA dehydrogenase deficiency	A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.	DOVES_relaxed.owl
MONDO:0012648	biolink:NamedThing	isobutyryl-CoA dehydrogenase deficiency	An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).	DOVES_relaxed.owl
MONDO:0013661	biolink:NamedThing	combined malonic and methylmalonic acidemia	Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.	DOVES_relaxed.owl
MONDO:0017359	biolink:NamedThing	3-methylglutaconic aciduria	A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.	DOVES_relaxed.owl
MONDO:0018950	biolink:NamedThing	3-methylcrotonyl-CoA carboxylase deficiency	3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.	DOVES_relaxed.owl
MONDO:0019229	biolink:NamedThing	inborn disorder of ketolysis	An inherited metabolic disease that is has its basis in the disruption of ketone body catabolic process.	DOVES_relaxed.owl
MONDO:0009492	biolink:NamedThing	succinyl-CoA:3-ketoacid CoA transferase deficiency	Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.	DOVES_relaxed.owl
MONDO:0100451	biolink:NamedThing	CEP290-related ciliopathy	A ciliopathy caused by biallelic variants in the CEP290 gene.	DOVES_relaxed.owl
MONDO:0100509	biolink:NamedThing	IFT140-related recessive ciliopathy	Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene.	DOVES_relaxed.owl
MONDO:0008767	biolink:NamedThing	neuronal ceroid lipofuscinosis 3	A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.	DOVES_relaxed.owl
MONDO:0019262	biolink:NamedThing	juvenile neuronal ceroid lipofuscinosis	A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.	DOVES_relaxed.owl
MONDO:0008769	biolink:NamedThing	neuronal ceroid lipofuscinosis 2	A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.	DOVES_relaxed.owl
MONDO:0010830	biolink:NamedThing	neuronal ceroid lipofuscinosis 8	Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.	DOVES_relaxed.owl
MONDO:0012188	biolink:NamedThing	neuronal ceroid lipofuscinosis 9	Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	DOVES_relaxed.owl
MONDO:0017809	biolink:NamedThing	parkinsonism due to ATP13A2 deficiency		DOVES_relaxed.owl
MONDO:0015674	biolink:NamedThing	late infantile neuronal ceroid lipofuscinosis	A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.	DOVES_relaxed.owl
MONDO:0009745	biolink:NamedThing	neuronal ceroid lipofuscinosis 5	Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	DOVES_relaxed.owl
MONDO:0011144	biolink:NamedThing	ceroid lipofuscinosis, neuronal, 6A	A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	DOVES_relaxed.owl
MONDO:0012588	biolink:NamedThing	neuronal ceroid lipofuscinosis 7	Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	DOVES_relaxed.owl
MONDO:0008772	biolink:NamedThing	amelogenesis imperfecta type 2A1	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene.	DOVES_relaxed.owl
MONDO:0010521	biolink:NamedThing	amelogenesis imperfecta type 1E	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene.	DOVES_relaxed.owl
MONDO:0012926	biolink:NamedThing	amelogenesis imperfecta hypomaturation type 2A2	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene.	DOVES_relaxed.owl
MONDO:0013181	biolink:NamedThing	amelogenesis imperfecta hypomaturation type 2A3	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene.	DOVES_relaxed.owl
MONDO:0013906	biolink:NamedThing	amelogenesis imperfecta hypomaturation type 2A4	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene.	DOVES_relaxed.owl
MONDO:0014385	biolink:NamedThing	amelogenesis imperfecta hypomaturation type 2A5	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene.	DOVES_relaxed.owl
MONDO:0014971	biolink:NamedThing	amelogenesis imperfecta, hypomaturation type, IIa6		DOVES_relaxed.owl
MONDO:0008774	biolink:NamedThing	2-aminoadipic 2-oxoadipic aciduria		DOVES_relaxed.owl
MONDO:0009373	biolink:NamedThing	seizures-intellectual disability due to hydroxylysinuria syndrome	Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.	DOVES_relaxed.owl
MONDO:0010005	biolink:NamedThing	saccharopinuria	Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.	DOVES_relaxed.owl
MONDO:0008780	biolink:NamedThing	amyotrophic lateral sclerosis type 2, juvenile	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene.	DOVES_relaxed.owl
MONDO:0008781	biolink:NamedThing	juvenile amyotrophic lateral sclerosis with dementia	A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.	DOVES_relaxed.owl
MONDO:0011196	biolink:NamedThing	amyotrophic lateral sclerosis type 5	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene.	DOVES_relaxed.owl
MONDO:0013715	biolink:NamedThing	amyotrophic lateral sclerosis type 16	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.	DOVES_relaxed.owl
MONDO:0011663	biolink:NamedThing	juvenile primary lateral sclerosis	Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.	DOVES_relaxed.owl
MONDO:0011797	biolink:NamedThing	infantile-onset ascending hereditary spastic paralysis	Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.	DOVES_relaxed.owl
MONDO:0100188	biolink:NamedThing	combined ApoA-I and ApoC-III deficiency	A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III.	DOVES_relaxed.owl
MONDO:0100189	biolink:NamedThing	apolipoprotein A-I deficiency	A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).	DOVES_relaxed.owl
MONDO:0008785	biolink:NamedThing	sideroblastic anemia 2		DOVES_relaxed.owl
MONDO:0014804	biolink:NamedThing	sideroblastic anemia 3		DOVES_relaxed.owl
MONDO:0008786	biolink:NamedThing	pyridoxine-responsive sideroblastic anemia		DOVES_relaxed.owl
MONDO:0008789	biolink:NamedThing	anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane		DOVES_relaxed.owl
MONDO:0008790	biolink:NamedThing	anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism		DOVES_relaxed.owl
MONDO:0010480	biolink:NamedThing	anemia, nonspherocytic hemolytic, due to G6PD deficiency		DOVES_relaxed.owl
MONDO:0016344	biolink:NamedThing	hydranencephaly	A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.	DOVES_relaxed.owl
MONDO:0030338	biolink:NamedThing	anencephaly 2		DOVES_relaxed.owl
MONDO:0035401	biolink:NamedThing	isolated anencephaly		DOVES_relaxed.owl
MONDO:0010261	biolink:NamedThing	microphthalmia, syndromic 2		DOVES_relaxed.owl
MONDO:0010671	biolink:NamedThing	microphthalmia, syndromic 1		DOVES_relaxed.owl
MONDO:0011936	biolink:NamedThing	microphthalmia with brain and digit anomalies	Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.	DOVES_relaxed.owl
MONDO:0012413	biolink:NamedThing	syndromic microphthalmia type 5	Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.	DOVES_relaxed.owl
MONDO:0012802	biolink:NamedThing	oculoauricular syndrome	Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).	DOVES_relaxed.owl
MONDO:0013734	biolink:NamedThing	microphthalmia, syndromic 11	Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.	DOVES_relaxed.owl
MONDO:0014229	biolink:NamedThing	microphthalmia, syndromic 12	Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.	DOVES_relaxed.owl
MONDO:0018924	biolink:NamedThing	microphthalmia, Lenz type	A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.	DOVES_relaxed.owl
MONDO:0008807	biolink:NamedThing	apnea, central sleep		DOVES_relaxed.owl
MONDO:0024356	biolink:NamedThing	primary central sleep apnea syndrome		DOVES_relaxed.owl
MONDO:0024357	biolink:NamedThing	drug induced central sleep apnea		DOVES_relaxed.owl
MONDO:0024358	biolink:NamedThing	complex sleep apnea	A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device.	DOVES_relaxed.owl
MONDO:0024359	biolink:NamedThing	central sleep apnea due to periodic breathing		DOVES_relaxed.owl
MONDO:0024360	biolink:NamedThing	central sleep apnea caused by high altitude		DOVES_relaxed.owl
MONDO:0008809	biolink:NamedThing	polyneuropathy-hand defect syndrome	Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.	DOVES_relaxed.owl
MONDO:0018550	biolink:NamedThing	spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder		DOVES_relaxed.owl
MONDO:0009751	biolink:NamedThing	neuropathy, hereditary sensory, atypical	A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities.	DOVES_relaxed.owl
MONDO:0010378	biolink:NamedThing	X-linked hereditary sensory and autonomic neuropathy with hearing loss	This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.	DOVES_relaxed.owl
MONDO:0010688	biolink:NamedThing	hereditary sensory neuropathy X-linked	A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life.	DOVES_relaxed.owl
MONDO:0018431	biolink:NamedThing	cold-induced sweating syndrome - hyperthermia spectrum		DOVES_relaxed.owl
MONDO:0019941	biolink:NamedThing	hereditary sensory and autonomic neuropathy type 2	Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.	DOVES_relaxed.owl
MONDO:0017104	biolink:NamedThing	central nervous system cystic malformation		DOVES_relaxed.owl
MONDO:0017105	biolink:NamedThing	glioependymal/ependymal cyst	Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).	DOVES_relaxed.owl
MONDO:0020134	biolink:NamedThing	cystic malformation of the posterior fossa		DOVES_relaxed.owl
MONDO:0008814	biolink:NamedThing	hyperargininemia	Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.	DOVES_relaxed.owl
MONDO:0800153	biolink:NamedThing	urea cycle disorder or inherited hyperammonemia	A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood).	DOVES_relaxed.owl
MONDO:0008988	biolink:NamedThing	citrullinemia type I	Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).	DOVES_relaxed.owl
MONDO:0009376	biolink:NamedThing	carbamoyl phosphate synthetase I deficiency disease	Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.	DOVES_relaxed.owl
MONDO:0009377	biolink:NamedThing	hyperammonemia due to N-acetylglutamate synthase deficiency	N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.	DOVES_relaxed.owl
MONDO:0010703	biolink:NamedThing	ornithine carbamoyltransferase deficiency	Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.	DOVES_relaxed.owl
MONDO:0011717	biolink:NamedThing	hyperinsulinism-hyperammonemia syndrome	Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.	DOVES_relaxed.owl
MONDO:0014332	biolink:NamedThing	hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency		DOVES_relaxed.owl
MONDO:0016602	biolink:NamedThing	citrin deficiency	Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).	DOVES_relaxed.owl
MONDO:0017069	biolink:NamedThing	spina bifida cystica	A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.	DOVES_relaxed.owl
MONDO:0017076	biolink:NamedThing	posterior meningocele	Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.	DOVES_relaxed.owl
MONDO:0017077	biolink:NamedThing	myelocystocele		DOVES_relaxed.owl
MONDO:0019773	biolink:NamedThing	myelomeningocele	Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect.	DOVES_relaxed.owl
MONDO:0008817	biolink:NamedThing	arterial calcification, generalized, of infancy, 1	An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications.	DOVES_relaxed.owl
MONDO:0013768	biolink:NamedThing	arterial calcification, generalized, of infancy, 2	Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene.	DOVES_relaxed.owl
MONDO:0008822	biolink:NamedThing	arthrogryposis, renal dysfunction, and cholestasis 1	Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.	DOVES_relaxed.owl
MONDO:0013255	biolink:NamedThing	arthrogryposis, renal dysfunction, and cholestasis 2	Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.	DOVES_relaxed.owl
MONDO:0008830	biolink:NamedThing	aspartylglucosaminuria	Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).	DOVES_relaxed.owl
MONDO:0009254	biolink:NamedThing	fucosidosis	Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.	DOVES_relaxed.owl
MONDO:0017734	biolink:NamedThing	sialidosis	Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.	DOVES_relaxed.owl
MONDO:0017779	biolink:NamedThing	alpha-N-acetylgalactosaminidase deficiency	Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.	DOVES_relaxed.owl
MONDO:0009260	biolink:NamedThing	GM1 gangliosidosis type 1	GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.	DOVES_relaxed.owl
MONDO:0009650	biolink:NamedThing	mucolipidosis type II	Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.	DOVES_relaxed.owl
MONDO:0009652	biolink:NamedThing	mucolipidosis type III gamma	Mucolipidosis III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.	DOVES_relaxed.owl
MONDO:0009655	biolink:NamedThing	mucopolysaccharidosis type 3A	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.	DOVES_relaxed.owl
MONDO:0009656	biolink:NamedThing	mucopolysaccharidosis type 3B	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.	DOVES_relaxed.owl
MONDO:0009657	biolink:NamedThing	mucopolysaccharidosis type 3C	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.	DOVES_relaxed.owl
MONDO:0009658	biolink:NamedThing	mucopolysaccharidosis type 3D	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.	DOVES_relaxed.owl
MONDO:0009659	biolink:NamedThing	mucopolysaccharidosis type 4A	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.	DOVES_relaxed.owl
MONDO:0009660	biolink:NamedThing	mucopolysaccharidosis type 4B	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.	DOVES_relaxed.owl
MONDO:0009738	biolink:NamedThing	sialidosis type 2	A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.	DOVES_relaxed.owl
MONDO:0010027	biolink:NamedThing	free sialic acid storage disease, infantile form		DOVES_relaxed.owl
MONDO:0018931	biolink:NamedThing	mucolipidosis type III, alpha/beta	Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.	DOVES_relaxed.owl
MONDO:0008831	biolink:NamedThing	asphyxiating thoracic dystrophy 1	An asphyxiating thoracic dystrophy associated with variation in the region 15q13.	DOVES_relaxed.owl
MONDO:0018770	biolink:NamedThing	Jeune syndrome	Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.	DOVES_relaxed.owl
MONDO:0009894	biolink:NamedThing	short-rib thoracic dysplasia 6 with or without polydactyly	A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.	DOVES_relaxed.owl
MONDO:0010024	biolink:NamedThing	Beemer-Langer syndrome	Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.	DOVES_relaxed.owl
MONDO:0012644	biolink:NamedThing	asphyxiating thoracic dystrophy 2	Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.	DOVES_relaxed.owl
MONDO:0013441	biolink:NamedThing	asphyxiating thoracic dystrophy 4	An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.	DOVES_relaxed.owl
MONDO:0013569	biolink:NamedThing	short-rib thoracic dysplasia 7 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.	DOVES_relaxed.owl
MONDO:0013717	biolink:NamedThing	asphyxiating thoracic dystrophy 5	Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.	DOVES_relaxed.owl
MONDO:0014214	biolink:NamedThing	short-rib thoracic dysplasia 8 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.	DOVES_relaxed.owl
MONDO:0014284	biolink:NamedThing	short-rib thoracic dysplasia 10 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.	DOVES_relaxed.owl
MONDO:0014287	biolink:NamedThing	short-rib thoracic dysplasia 11 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.	DOVES_relaxed.owl
MONDO:0014577	biolink:NamedThing	short-rib thoracic dysplasia 13 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.	DOVES_relaxed.owl
MONDO:0014688	biolink:NamedThing	short-rib thoracic dysplasia 14 with polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.	DOVES_relaxed.owl
MONDO:0014907	biolink:NamedThing	short-rib thoracic dysplasia 15 with polydactyly		DOVES_relaxed.owl
MONDO:0014915	biolink:NamedThing	short-rib thoracic dysplasia 16 with or without polydactyly		DOVES_relaxed.owl
MONDO:0030356	biolink:NamedThing	short-rib thoracic dysplasia 21 without polydactyly		DOVES_relaxed.owl
MONDO:0033485	biolink:NamedThing	short-rib thoracic dysplasia 19 with or without polydactyly		DOVES_relaxed.owl
MONDO:0036483	biolink:NamedThing	short-rib thoracic dysplasia 18 with polydactyly		DOVES_relaxed.owl
MONDO:0044328	biolink:NamedThing	short-rib thoracic dysplasia 20 with polydactyly	Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330).	DOVES_relaxed.owl
MONDO:0054565	biolink:NamedThing	short-rib thoracic dysplasia 17 with or without polydactyly		DOVES_relaxed.owl
MONDO:0008832	biolink:NamedThing	right atrial isomerism	A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.	DOVES_relaxed.owl
MONDO:0010029	biolink:NamedThing	situs inversus	A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning).	DOVES_relaxed.owl
MONDO:0010607	biolink:NamedThing	heterotaxy, visceral, 1, X-linked	X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia.	DOVES_relaxed.owl
MONDO:0010991	biolink:NamedThing	laterality defects, autosomal dominant		DOVES_relaxed.owl
MONDO:0011546	biolink:NamedThing	heterotaxy, visceral, 2, autosomal		DOVES_relaxed.owl
MONDO:0011659	biolink:NamedThing	heterotaxy, visceral, 3, autosomal		DOVES_relaxed.owl
MONDO:0013403	biolink:NamedThing	heterotaxy, visceral, 4, autosomal	Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene.	DOVES_relaxed.owl
MONDO:0013887	biolink:NamedThing	heterotaxy, visceral, 6, autosomal		DOVES_relaxed.owl
MONDO:0014762	biolink:NamedThing	heterotaxy, visceral, 7, autosomal	Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene.	DOVES_relaxed.owl
MONDO:0014967	biolink:NamedThing	heterotaxy, visceral, 8, autosomal	Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene.	DOVES_relaxed.owl
MONDO:0019862	biolink:NamedThing	levocardia	A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation.	DOVES_relaxed.owl
MONDO:0030070	biolink:NamedThing	heterotaxy, visceral, 9, autosomal, with male infertility		DOVES_relaxed.owl
MONDO:0030474	biolink:NamedThing	heterotaxy, visceral, 10, autosomal, with male infertility		DOVES_relaxed.owl
MONDO:0030475	biolink:NamedThing	heterotaxy, visceral, 11, autosomal, with male infertility		DOVES_relaxed.owl
MONDO:0700112	biolink:NamedThing	heterotaxy, visceral, 5, autosomal	Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene.	DOVES_relaxed.owl
MONDO:0008833	biolink:NamedThing	renal-hepatic-pancreatic dysplasia 1	Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.	DOVES_relaxed.owl
MONDO:0014174	biolink:NamedThing	renal-hepatic-pancreatic dysplasia 2	Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene.	DOVES_relaxed.owl
MONDO:0008838	biolink:NamedThing	ataxia - deafness - intellectual disability syndrome	This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit.	DOVES_relaxed.owl
MONDO:0010404	biolink:NamedThing	X-linked non progressive cerebellar ataxia	X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.	DOVES_relaxed.owl
MONDO:0010529	biolink:NamedThing	X-linked spinocerebellar ataxia type 3	A form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.	DOVES_relaxed.owl
MONDO:0010534	biolink:NamedThing	X-linked spinocerebellar ataxia type 4	Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.	DOVES_relaxed.owl
MONDO:0010547	biolink:NamedThing	X-linked progressive cerebellar ataxia		DOVES_relaxed.owl
MONDO:0010548	biolink:NamedThing	spinocerebellar ataxia, X-linked 2		DOVES_relaxed.owl
MONDO:0019430	biolink:NamedThing	X-linked intellectual disability-ataxia-apraxia syndrome	X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers.	DOVES_relaxed.owl
MONDO:0018814	biolink:NamedThing	non-SCID combined immunodeficiency		DOVES_relaxed.owl
MONDO:0035694	biolink:NamedThing	combined immunodeficiency due to RELA haploinsufficiency		DOVES_relaxed.owl
MONDO:0800128	biolink:NamedThing	combined immunodeficiency due to POLE2 deficiency	Any combined immunodeficiency due to a deficiency in the POLE2 gene.	DOVES_relaxed.owl
MONDO:0008841	biolink:NamedThing	ataxia-telangiectasia with generalized skin pigmentation and early death		DOVES_relaxed.owl
MONDO:0024557	biolink:NamedThing	ataxia-telangiectasia-like disorder 1	Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.	DOVES_relaxed.owl
MONDO:0020160	biolink:NamedThing	secondary entropion		DOVES_relaxed.owl
MONDO:0020462	biolink:NamedThing	tarsal kink syndrome	Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.	DOVES_relaxed.owl
MONDO:0034971	biolink:NamedThing	isolated congenital entropion	A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.	DOVES_relaxed.owl
MONDO:0008854	biolink:NamedThing	Bardet-Biedl syndrome 1	A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.	DOVES_relaxed.owl
MONDO:0010832	biolink:NamedThing	Bardet-Biedl syndrome 3		DOVES_relaxed.owl
MONDO:0011523	biolink:NamedThing	Bardet-Biedl syndrome 6		DOVES_relaxed.owl
MONDO:0014432	biolink:NamedThing	Bardet-Biedl syndrome 2	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene.	DOVES_relaxed.owl
MONDO:0014433	biolink:NamedThing	Bardet-Biedl syndrome 4		DOVES_relaxed.owl
MONDO:0014434	biolink:NamedThing	Bardet-Biedl syndrome 5	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene.	DOVES_relaxed.owl
MONDO:0014435	biolink:NamedThing	Bardet-Biedl syndrome 7	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene.	DOVES_relaxed.owl
MONDO:0014436	biolink:NamedThing	Bardet-Biedl syndrome 8	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene.	DOVES_relaxed.owl
MONDO:0014437	biolink:NamedThing	Bardet-Biedl syndrome 9	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene.	DOVES_relaxed.owl
MONDO:0014438	biolink:NamedThing	Bardet-Biedl syndrome 10	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene.	DOVES_relaxed.owl
MONDO:0014440	biolink:NamedThing	Bardet-Biedl syndrome 12	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene.	DOVES_relaxed.owl
MONDO:0014441	biolink:NamedThing	Bardet-Biedl syndrome 13	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene.	DOVES_relaxed.owl
MONDO:0014442	biolink:NamedThing	Bardet-Biedl syndrome 14	A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.	DOVES_relaxed.owl
MONDO:0014443	biolink:NamedThing	Bardet-Biedl syndrome 15	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene.	DOVES_relaxed.owl
MONDO:0014444	biolink:NamedThing	Bardet-Biedl syndrome 16	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.	DOVES_relaxed.owl
MONDO:0014445	biolink:NamedThing	Bardet-Biedl syndrome 17	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene.	DOVES_relaxed.owl
MONDO:0014446	biolink:NamedThing	Bardet-Biedl syndrome 18	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene.	DOVES_relaxed.owl
MONDO:0014447	biolink:NamedThing	Bardet-Biedl syndrome 19	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene.	DOVES_relaxed.owl
MONDO:0014926	biolink:NamedThing	Bardet-Biedl syndrome 22	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene.	DOVES_relaxed.owl
MONDO:0023670	biolink:NamedThing	Bardet-Biedl syndrome 20		DOVES_relaxed.owl
MONDO:0044308	biolink:NamedThing	bardet-biedl syndrome 21	BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900).	DOVES_relaxed.owl
MONDO:0008856	biolink:NamedThing	immunodeficiency 27A		DOVES_relaxed.owl
MONDO:0013954	biolink:NamedThing	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene.	DOVES_relaxed.owl
MONDO:0013955	biolink:NamedThing	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene.	DOVES_relaxed.owl
MONDO:0013956	biolink:NamedThing	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.	DOVES_relaxed.owl
MONDO:0013957	biolink:NamedThing	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG).	DOVES_relaxed.owl
MONDO:0014429	biolink:NamedThing	autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).	DOVES_relaxed.owl
MONDO:0014502	biolink:NamedThing	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections.	DOVES_relaxed.owl
MONDO:0014710	biolink:NamedThing	autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene.	DOVES_relaxed.owl
MONDO:0017900	biolink:NamedThing	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).	DOVES_relaxed.owl
MONDO:0017903	biolink:NamedThing	autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).	DOVES_relaxed.owl
MONDO:0017905	biolink:NamedThing	X-linked Mendelian susceptibility to mycobacterial diseases	A rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males.	DOVES_relaxed.owl
MONDO:0020530	biolink:NamedThing	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency	Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).	DOVES_relaxed.owl
MONDO:0020636	biolink:NamedThing	Mendelian susceptibility to mycobacterial diseases due to a complete deficiency		DOVES_relaxed.owl
MONDO:0020637	biolink:NamedThing	Mendelian susceptibility to mycobacterial diseases due to a partial deficiency		DOVES_relaxed.owl
MONDO:0008861	biolink:NamedThing	3-methylcrotonyl-CoA carboxylase 1 deficiency	Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.	DOVES_relaxed.owl
MONDO:0015991	biolink:NamedThing	citrullinemia	Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).	DOVES_relaxed.owl
MONDO:0008862	biolink:NamedThing	3-methylcrotonyl-CoA carboxylase 2 deficiency	Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene.	DOVES_relaxed.owl
MONDO:0008863	biolink:NamedThing	sitosterolemia	A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.	DOVES_relaxed.owl
MONDO:0010246	biolink:NamedThing	developmental and epileptic encephalopathy, 9	Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.	DOVES_relaxed.owl
MONDO:0010632	biolink:NamedThing	developmental and epileptic encephalopathy, 1	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene.	DOVES_relaxed.owl
MONDO:0012391	biolink:NamedThing	neuronal ceroid lipofuscinosis 8 northern epilepsy variant	Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.	DOVES_relaxed.owl
MONDO:0012725	biolink:NamedThing	lipoprotein glomerulopathy		DOVES_relaxed.owl
MONDO:0012787	biolink:NamedThing	hereditary spastic paraplegia 39	This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.	DOVES_relaxed.owl
MONDO:0013277	biolink:NamedThing	developmental and epileptic encephalopathy, 5	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.	DOVES_relaxed.owl
MONDO:0013389	biolink:NamedThing	developmental and epileptic encephalopathy, 12	An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.	DOVES_relaxed.owl
MONDO:0014003	biolink:NamedThing	developmental and epileptic encephalopathy, 15		DOVES_relaxed.owl
MONDO:0014505	biolink:NamedThing	developmental and epileptic encephalopathy, 27	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene.	DOVES_relaxed.owl
MONDO:0014895	biolink:NamedThing	developmental and epileptic encephalopathy, 40	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.	DOVES_relaxed.owl
MONDO:0017999	biolink:NamedThing	fatty acid hydroxylase-associated neurodegeneration	Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.	DOVES_relaxed.owl
MONDO:0033203	biolink:NamedThing	nephrotic syndrome 14		DOVES_relaxed.owl
MONDO:0044737	biolink:NamedThing	autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction		DOVES_relaxed.owl
MONDO:0008869	biolink:NamedThing	Seckel syndrome 1	Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene.	DOVES_relaxed.owl
MONDO:0010900	biolink:NamedThing	intrauterine growth retardation with increased mitomycin c sensitivity		DOVES_relaxed.owl
MONDO:0013871	biolink:NamedThing	Seckel syndrome 6	Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene.	DOVES_relaxed.owl
MONDO:0013922	biolink:NamedThing	Seckel syndrome 7	Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.	DOVES_relaxed.owl
MONDO:0008870	biolink:NamedThing	bird headed-dwarfism, Montreal type	Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.	DOVES_relaxed.owl
MONDO:0009616	biolink:NamedThing	microcephalic primordial dwarfism, Toriello type	Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0014031	biolink:NamedThing	microcephalic primordial dwarfism, Alazami type	Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.	DOVES_relaxed.owl
MONDO:0016994	biolink:NamedThing	microcephalic osteodysplastic primordial dwarfism types I and III	Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.	DOVES_relaxed.owl
MONDO:0018764	biolink:NamedThing	microcephalic primordial dwarfism due to RTTN deficiency	Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported.	DOVES_relaxed.owl
MONDO:0008874	biolink:NamedThing	Bangstad syndrome	Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.	DOVES_relaxed.owl
MONDO:0009985	biolink:NamedThing	retinohepatoendocrinologic syndrome	Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.	DOVES_relaxed.owl
MONDO:0015079	biolink:NamedThing	multiple polyglandular tumor		DOVES_relaxed.owl
MONDO:0020629	biolink:NamedThing	microcephaly, growth restriction and increased sister chromatid exchange		DOVES_relaxed.owl
MONDO:0008877	biolink:NamedThing	blue diaper syndrome	Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria.	DOVES_relaxed.owl
MONDO:0009108	biolink:NamedThing	hyperdibasic aminoaciduria type 1	Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.	DOVES_relaxed.owl
MONDO:0009109	biolink:NamedThing	lysinuric protein intolerance	Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.	DOVES_relaxed.owl
MONDO:0009110	biolink:NamedThing	dicarboxylic aminoaciduria	Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.	DOVES_relaxed.owl
MONDO:0009324	biolink:NamedThing	Hartnup disease	Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).	DOVES_relaxed.owl
MONDO:0009346	biolink:NamedThing	histidinuria due to a renal tubular defect		DOVES_relaxed.owl
MONDO:0009448	biolink:NamedThing	iminoglycinuria	A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.	DOVES_relaxed.owl
MONDO:0017687	biolink:NamedThing	disorder of neutral amino acid transport	An inherited metabolic disease that is has its basis in the disruption of neutral amino acid transport.	DOVES_relaxed.owl
MONDO:0008878	biolink:NamedThing	bone dysplasia, lethal Holmgren type	Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.	DOVES_relaxed.owl
MONDO:0009498	biolink:NamedThing	lethal Kniest-like dysplasia	Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.	DOVES_relaxed.owl
MONDO:0009942	biolink:NamedThing	pyknoachondrogenesis	Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.	DOVES_relaxed.owl
MONDO:0011064	biolink:NamedThing	lethal chondrodysplasia, Seller type		DOVES_relaxed.owl
MONDO:0015424	biolink:NamedThing	lethal chondrodysplasia, Moerman type		DOVES_relaxed.owl
MONDO:0015425	biolink:NamedThing	lethal recessive chondrodysplasia	Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.	DOVES_relaxed.owl
MONDO:0008887	biolink:NamedThing	bronchiectasis with or without elevated sweat chloride 1		DOVES_relaxed.owl
MONDO:0013087	biolink:NamedThing	bronchiectasis with or without elevated sweat chloride 2	Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene.	DOVES_relaxed.owl
MONDO:0013112	biolink:NamedThing	bronchiectasis with or without elevated sweat chloride 3	Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene.	DOVES_relaxed.owl
MONDO:0015374	biolink:NamedThing	primary central nervous system vasculitis		DOVES_relaxed.owl
MONDO:0013867	biolink:NamedThing	brown-Vialetto-van Laere syndrome 2	Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene.	DOVES_relaxed.owl
MONDO:0024537	biolink:NamedThing	Brown-Vialetto-van Laere syndrome 1	Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene.	DOVES_relaxed.owl
MONDO:0008892	biolink:NamedThing	progressive familial intrahepatic cholestasis type 1	PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.	DOVES_relaxed.owl
MONDO:0009469	biolink:NamedThing	benign recurrent intrahepatic cholestasis type 1	Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.	DOVES_relaxed.owl
MONDO:0011156	biolink:NamedThing	progressive familial intrahepatic cholestasis type 2	Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.	DOVES_relaxed.owl
MONDO:0011214	biolink:NamedThing	progressive familial intrahepatic cholestasis type 3	Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.	DOVES_relaxed.owl
MONDO:0011497	biolink:NamedThing	hereditary North American Indian childhood cirrhosis	Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.	DOVES_relaxed.owl
MONDO:0014381	biolink:NamedThing	cholestasis, progressive familial intrahepatic, 4	Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.	DOVES_relaxed.owl
MONDO:0014884	biolink:NamedThing	cholestasis, progressive familial intrahepatic, 5	Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.	DOVES_relaxed.owl
MONDO:0018804	biolink:NamedThing	MYO5B-related progressive familial intrahepatic cholestasis		DOVES_relaxed.owl
MONDO:0030360	biolink:NamedThing	cholestasis, progressive familial intrahepatic, 6		DOVES_relaxed.owl
MONDO:0030503	biolink:NamedThing	cholestasis, progressive familial intrahepatic, 7, with or without hearing loss		DOVES_relaxed.owl
MONDO:0030505	biolink:NamedThing	cholestasis, progressive familial intrahepatic, 8		DOVES_relaxed.owl
MONDO:0030800	biolink:NamedThing	cholestasis, progressive familial intrahepatic, 9		DOVES_relaxed.owl
MONDO:0030810	biolink:NamedThing	cholestasis, progressive familial intrahepatic, 10		DOVES_relaxed.owl
MONDO:0030815	biolink:NamedThing	cholestasis, progressive familial intrahepatic, 11		DOVES_relaxed.owl
MONDO:0031040	biolink:NamedThing	cholestasis, progressive familial intrahepatic, 12		DOVES_relaxed.owl
MONDO:0008907	biolink:NamedThing	PMM2-congenital disorder of glycosylation	The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.	DOVES_relaxed.owl
MONDO:0010472	biolink:NamedThing	developmental and epileptic encephalopathy, 36		DOVES_relaxed.owl
MONDO:0010998	biolink:NamedThing	ALG3-congenital disorder of glycosylation	A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).	DOVES_relaxed.owl
MONDO:0011291	biolink:NamedThing	ALG6-congenital disorder of glycosylation 1C	A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).	DOVES_relaxed.owl
MONDO:0011783	biolink:NamedThing	ALG12-congenital disorder of glycosylation	A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).	DOVES_relaxed.owl
MONDO:0011933	biolink:NamedThing	ALG2-congenital disorder of glycosylation	A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0011964	biolink:NamedThing	DPAGT1-congenital disorder of glycosylation	DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).	DOVES_relaxed.owl
MONDO:0012052	biolink:NamedThing	ALG1-congenital disorder of glycosylation	A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).	DOVES_relaxed.owl
MONDO:0012117	biolink:NamedThing	ALG9-congenital disorder of glycosylation	A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).	DOVES_relaxed.owl
MONDO:0012123	biolink:NamedThing	congenital disorder of glycosylation type 1E	The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.	DOVES_relaxed.owl
MONDO:0012211	biolink:NamedThing	MPDU1-congenital disorder of glycosylation	The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.	DOVES_relaxed.owl
MONDO:0012885	biolink:NamedThing	SRD5A3-congenital disorder of glycosylation	A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.	DOVES_relaxed.owl
MONDO:0013349	biolink:NamedThing	ALG11-congenital disorder of glycosylation	A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).	DOVES_relaxed.owl
MONDO:0013789	biolink:NamedThing	DDOST-congenital disorder of glycosylation	DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).	DOVES_relaxed.owl
MONDO:0013968	biolink:NamedThing	PGM1-congenital disorder of glycosylation		DOVES_relaxed.owl
MONDO:0014270	biolink:NamedThing	STT3A-congenital disorder of glycosylation	STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).	DOVES_relaxed.owl
MONDO:0014271	biolink:NamedThing	STT3B-congenital disorder of glycosylation	STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).	DOVES_relaxed.owl
MONDO:0014647	biolink:NamedThing	developmental and epileptic encephalopathy, 50		DOVES_relaxed.owl
MONDO:0014904	biolink:NamedThing	congenital disorder of glycosylation, type IAA		DOVES_relaxed.owl
MONDO:0026729	biolink:NamedThing	congenital disorder of glycosylation, type ICC		DOVES_relaxed.owl
MONDO:0300000	biolink:NamedThing	SSR3-CDG	A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure.	DOVES_relaxed.owl
MONDO:0011629	biolink:NamedThing	MOGS-congenital disorder of glycosylation	MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).	DOVES_relaxed.owl
MONDO:0018349	biolink:NamedThing	MAN1B1-congenital disorder of glycosylation	MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).	DOVES_relaxed.owl
MONDO:0012635	biolink:NamedThing	COG8-congenital disorder of glycosylation	The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.	DOVES_relaxed.owl
MONDO:0013281	biolink:NamedThing	COG4-congenital disorder of glycosylation	COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.	DOVES_relaxed.owl
MONDO:0013810	biolink:NamedThing	COG6-ongenital disorder of glycosylation		DOVES_relaxed.owl
MONDO:0014789	biolink:NamedThing	CCDC115-CDG		DOVES_relaxed.owl
MONDO:0014790	biolink:NamedThing	TMEM199-CDG		DOVES_relaxed.owl
MONDO:0026765	biolink:NamedThing	congenital disorder of glycosylation, type IIr		DOVES_relaxed.owl
MONDO:0030043	biolink:NamedThing	congenital disorder of glycosylation, type iit		DOVES_relaxed.owl
MONDO:0030423	biolink:NamedThing	congenital disorder of glycosylation, type 2v		DOVES_relaxed.owl
MONDO:0030437	biolink:NamedThing	congenital disorder of glycosylation, type IIw		DOVES_relaxed.owl
MONDO:0054559	biolink:NamedThing	congenital disorder of glycosylation, type IIq		DOVES_relaxed.owl
MONDO:0008911	biolink:NamedThing	cardiac lipidosis, familial		DOVES_relaxed.owl
MONDO:0008913	biolink:NamedThing	cardiac valvular defect, developmental		DOVES_relaxed.owl
MONDO:0011614	biolink:NamedThing	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.	DOVES_relaxed.owl
MONDO:0012624	biolink:NamedThing	acyl-CoA dehydrogenase 9 deficiency	A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.	DOVES_relaxed.owl
MONDO:0017715	biolink:NamedThing	3-hydroxyacyl-CoA dehydrogenase deficiency		DOVES_relaxed.owl
MONDO:0017716	biolink:NamedThing	disorder of carnitine cycle and carnitine transport		DOVES_relaxed.owl
MONDO:0009705	biolink:NamedThing	carnitine palmitoyl transferase 1A deficiency	Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.	DOVES_relaxed.owl
MONDO:0008921	biolink:NamedThing	carnosinemia	Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.	DOVES_relaxed.owl
MONDO:0016801	biolink:NamedThing	mitochondrial substrate carrier disorder		DOVES_relaxed.owl
MONDO:0013056	biolink:NamedThing	developmental and epileptic encephalopathy, 39	A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.	DOVES_relaxed.owl
MONDO:0014775	biolink:NamedThing	combined oxidative phosphorylation deficiency 28	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.	DOVES_relaxed.owl
MONDO:0014545	biolink:NamedThing	progressive myoclonic epilepsy type 8	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.	DOVES_relaxed.owl
MONDO:0011283	biolink:NamedThing	mitochondrial DNA depletion syndrome 1		DOVES_relaxed.owl
MONDO:0012301	biolink:NamedThing	mitochondrial DNA depletion syndrome, myopathic form	Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.	DOVES_relaxed.owl
MONDO:0013350	biolink:NamedThing	mitochondrial DNA depletion syndrome 4b		DOVES_relaxed.owl
MONDO:0013776	biolink:NamedThing	spastic ataxia 5	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.	DOVES_relaxed.owl
MONDO:0014039	biolink:NamedThing	mitochondrial DNA depletion syndrome 11	Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.	DOVES_relaxed.owl
MONDO:0014175	biolink:NamedThing	mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.	DOVES_relaxed.owl
MONDO:0014820	biolink:NamedThing	mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene.	DOVES_relaxed.owl
MONDO:0014943	biolink:NamedThing	mitochondrial DNA depletion syndrome 15 (hepatocerebral type);	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene.	DOVES_relaxed.owl
MONDO:0014959	biolink:NamedThing	mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		DOVES_relaxed.owl
MONDO:0016796	biolink:NamedThing	mitochondrial DNA depletion syndrome, encephalomyopathic form	Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.	DOVES_relaxed.owl
MONDO:0030326	biolink:NamedThing	mitochondrial dna depletion syndrome 16B (neuroophthalmic type)		DOVES_relaxed.owl
MONDO:0030696	biolink:NamedThing	mitochondrial DNA depletion syndrome 20 (mngie type)		DOVES_relaxed.owl
MONDO:0032799	biolink:NamedThing	mitochondrial DNA depletion syndrome 16 (hepatic type)		DOVES_relaxed.owl
MONDO:0032815	biolink:NamedThing	mitochondrial DNA depletion syndrome 17		DOVES_relaxed.owl
MONDO:0032932	biolink:NamedThing	mitochondrial DNA depletion syndrome 18		DOVES_relaxed.owl
MONDO:0033545	biolink:NamedThing	mitochondrial DNA depletion syndrome 19		DOVES_relaxed.owl
MONDO:0008938	biolink:NamedThing	early-onset cerebellar ataxia with retained tendon reflexes	Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.	DOVES_relaxed.owl
MONDO:0020046	biolink:NamedThing	autosomal recessive degenerative and progressive cerebellar ataxia		DOVES_relaxed.owl
MONDO:0017114	biolink:NamedThing	global cerebellar malformation		DOVES_relaxed.owl
MONDO:0008943	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 2	The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.	DOVES_relaxed.owl
MONDO:0020043	biolink:NamedThing	autosomal recessive congenital cerebellar ataxia		DOVES_relaxed.owl
MONDO:0011025	biolink:NamedThing	Cayman type cerebellar ataxia	Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.	DOVES_relaxed.owl
MONDO:0014503	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 17	Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.	DOVES_relaxed.owl
MONDO:0015369	biolink:NamedThing	Joubert syndrome and related disorders	Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.	DOVES_relaxed.owl
MONDO:0019374	biolink:NamedThing	CAMOS syndrome	CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0033717	biolink:NamedThing	congenital cerebellar ataxia due to RNU12 mutation	A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.	DOVES_relaxed.owl
MONDO:0008944	biolink:NamedThing	Joubert syndrome 1	Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.	DOVES_relaxed.owl
MONDO:0010431	biolink:NamedThing	Joubert syndrome 10	Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.	DOVES_relaxed.owl
MONDO:0011963	biolink:NamedThing	Joubert syndrome 2	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.	DOVES_relaxed.owl
MONDO:0012078	biolink:NamedThing	Joubert syndrome 3	Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene.	DOVES_relaxed.owl
MONDO:0012308	biolink:NamedThing	Joubert syndrome with renal defect	A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.	DOVES_relaxed.owl
MONDO:0012432	biolink:NamedThing	Joubert syndrome 5	Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene.	DOVES_relaxed.owl
MONDO:0012539	biolink:NamedThing	Joubert syndrome 6	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene.	DOVES_relaxed.owl
MONDO:0012694	biolink:NamedThing	Joubert syndrome 7	Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.	DOVES_relaxed.owl
MONDO:0012849	biolink:NamedThing	Joubert syndrome 9	Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene.	DOVES_relaxed.owl
MONDO:0012855	biolink:NamedThing	Joubert syndrome 8	Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene.	DOVES_relaxed.owl
MONDO:0013608	biolink:NamedThing	Joubert syndrome 13	Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene.	DOVES_relaxed.owl
MONDO:0013745	biolink:NamedThing	Joubert syndrome 14	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.	DOVES_relaxed.owl
MONDO:0013763	biolink:NamedThing	Joubert syndrome 15	Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene.	DOVES_relaxed.owl
MONDO:0013764	biolink:NamedThing	Joubert syndrome 16	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene.	DOVES_relaxed.owl
MONDO:0013824	biolink:NamedThing	Joubert syndrome 17	Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene.	DOVES_relaxed.owl
MONDO:0013896	biolink:NamedThing	Joubert syndrome 18	Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene.	DOVES_relaxed.owl
MONDO:0013994	biolink:NamedThing	Joubert syndrome 20	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene.	DOVES_relaxed.owl
MONDO:0014288	biolink:NamedThing	Joubert syndrome 21	Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.	DOVES_relaxed.owl
MONDO:0014297	biolink:NamedThing	Joubert syndrome 22	Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene.	DOVES_relaxed.owl
MONDO:0014664	biolink:NamedThing	Joubert syndrome 23	Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.	DOVES_relaxed.owl
MONDO:0014724	biolink:NamedThing	Joubert syndrome 24	Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene.	DOVES_relaxed.owl
MONDO:0014770	biolink:NamedThing	Joubert syndrome 25	Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene.	DOVES_relaxed.owl
MONDO:0014771	biolink:NamedThing	Joubert syndrome 26	Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene.	DOVES_relaxed.owl
MONDO:0014927	biolink:NamedThing	Joubert syndrome 27	Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene.	DOVES_relaxed.owl
MONDO:0014928	biolink:NamedThing	Joubert syndrome 28	Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.	DOVES_relaxed.owl
MONDO:0030353	biolink:NamedThing	Joubert syndrome 38		DOVES_relaxed.owl
MONDO:0030454	biolink:NamedThing	Joubert syndrome 39		DOVES_relaxed.owl
MONDO:0030462	biolink:NamedThing	Joubert syndrome 40		DOVES_relaxed.owl
MONDO:0030933	biolink:NamedThing	Joubert syndrome 37		DOVES_relaxed.owl
MONDO:0032570	biolink:NamedThing	Joubert syndrome 35		DOVES_relaxed.owl
MONDO:0032902	biolink:NamedThing	Joubert syndrome 36		DOVES_relaxed.owl
MONDO:0033308	biolink:NamedThing	Joubert syndrome 30		DOVES_relaxed.owl
MONDO:0033309	biolink:NamedThing	Joubert syndrome 32		DOVES_relaxed.owl
MONDO:0033310	biolink:NamedThing	Joubert syndrome 31		DOVES_relaxed.owl
MONDO:0033311	biolink:NamedThing	Joubert syndrome 33		DOVES_relaxed.owl
MONDO:0800363	biolink:NamedThing	Joubert syndrome 19		DOVES_relaxed.owl
MONDO:0800372	biolink:NamedThing	Joubert syndrome 29		DOVES_relaxed.owl
MONDO:0800382	biolink:NamedThing	Joubert syndrome 11		DOVES_relaxed.owl
MONDO:0800383	biolink:NamedThing	Joubert syndrome 34		DOVES_relaxed.owl
MONDO:0017165	biolink:NamedThing	bile acid CoA ligase deficiency and defective amidation	Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.	DOVES_relaxed.owl
MONDO:0100327	biolink:NamedThing	hypercholanemia, familial		DOVES_relaxed.owl
MONDO:0009265	biolink:NamedThing	Gaucher disease type I	Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.	DOVES_relaxed.owl
MONDO:0009266	biolink:NamedThing	Gaucher disease type II	Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.	DOVES_relaxed.owl
MONDO:0009267	biolink:NamedThing	Gaucher disease type III	Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.	DOVES_relaxed.owl
MONDO:0016091	biolink:NamedThing	adult Krabbe disease	A Krabbe disease that occurs in an adult.	DOVES_relaxed.owl
MONDO:0019261	biolink:NamedThing	infantile neuronal ceroid lipofuscinosis	A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.	DOVES_relaxed.owl
MONDO:0045016	biolink:NamedThing	cholesterol catabolic process disease	A disease that has its basis in the disruption of cholesterol catabolic process.	DOVES_relaxed.owl
MONDO:0008950	biolink:NamedThing	cerebral sclerosis similar to Pelizaeus-Merzbacher disease		DOVES_relaxed.owl
MONDO:0017221	biolink:NamedThing	Pelizaeus-Merzbacher disease, connatal form	The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.	DOVES_relaxed.owl
MONDO:0017222	biolink:NamedThing	Pelizaeus-Merzbacher disease, classic form	The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.	DOVES_relaxed.owl
MONDO:0017223	biolink:NamedThing	Pelizaeus-Merzbacher disease, transitional form	The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.	DOVES_relaxed.owl
MONDO:0017224	biolink:NamedThing	Pelizaeus-Merzbacher disease in female carriers	Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).	DOVES_relaxed.owl
MONDO:0017225	biolink:NamedThing	null syndrome	The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.	DOVES_relaxed.owl
MONDO:0008953	biolink:NamedThing	peroxisome biogenesis disorder 1A (Zellweger)		DOVES_relaxed.owl
MONDO:0100259	biolink:NamedThing	peroxisome biogenesis disorder due to PEX1 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.	DOVES_relaxed.owl
MONDO:0011101	biolink:NamedThing	peroxisome biogenesis disorder 1B		DOVES_relaxed.owl
MONDO:0008955	biolink:NamedThing	cerebrooculofacioskeletal syndrome 1	Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.	DOVES_relaxed.owl
MONDO:0012553	biolink:NamedThing	cerebrooculofacioskeletal syndrome 2	Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.	DOVES_relaxed.owl
MONDO:0012554	biolink:NamedThing	cerebrooculofacioskeletal syndrome 4	Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.	DOVES_relaxed.owl
MONDO:0014696	biolink:NamedThing	cerebrooculofacioskeletal syndrome 3		DOVES_relaxed.owl
MONDO:0008960	biolink:NamedThing	Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome	A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.	DOVES_relaxed.owl
MONDO:0018995	biolink:NamedThing	Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.	DOVES_relaxed.owl
MONDO:0008961	biolink:NamedThing	Charcot-Marie-Tooth disease type 4A	Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.	DOVES_relaxed.owl
MONDO:0012014	biolink:NamedThing	Charcot-Marie-Tooth disease recessive intermediate A	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.	DOVES_relaxed.owl
MONDO:0011898	biolink:NamedThing	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive		DOVES_relaxed.owl
MONDO:0011066	biolink:NamedThing	Charcot-Marie-Tooth disease type 4B1	Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).	DOVES_relaxed.owl
MONDO:0011085	biolink:NamedThing	Charcot-Marie-Tooth disease type 4D	Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.	DOVES_relaxed.owl
MONDO:0011113	biolink:NamedThing	Charcot-Marie-Tooth disease type 4C	Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.	DOVES_relaxed.owl
MONDO:0011475	biolink:NamedThing	Charcot-Marie-Tooth disease type 4B2	Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.	DOVES_relaxed.owl
MONDO:0011527	biolink:NamedThing	Charcot-Marie-Tooth disease type 4E	Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.	DOVES_relaxed.owl
MONDO:0012250	biolink:NamedThing	Charcot-Marie-Tooth disease type 4H	Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy	DOVES_relaxed.owl
MONDO:0012640	biolink:NamedThing	Charcot-Marie-Tooth disease type 4J	Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.	DOVES_relaxed.owl
MONDO:0013959	biolink:NamedThing	Charcot-Marie-Tooth disease type 4F	Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.	DOVES_relaxed.owl
MONDO:0014117	biolink:NamedThing	Charcot-Marie-Tooth disease type 4B3	Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).	DOVES_relaxed.owl
MONDO:0018306	biolink:NamedThing	Griscelli syndrome	Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).	DOVES_relaxed.owl
MONDO:0012220	biolink:NamedThing	Griscelli syndrome type 3	A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.	DOVES_relaxed.owl
MONDO:0011336	biolink:NamedThing	familial hemophagocytic lymphohistiocytosis 4	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene.	DOVES_relaxed.owl
MONDO:0011337	biolink:NamedThing	familial hemophagocytic lymphohistiocytosis 2	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.	DOVES_relaxed.owl
MONDO:0012146	biolink:NamedThing	familial hemophagocytic lymphohistiocytosis 3	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene.	DOVES_relaxed.owl
MONDO:0013135	biolink:NamedThing	familial hemophagocytic lymphohistiocytosis 5	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene.	DOVES_relaxed.owl
MONDO:0013606	biolink:NamedThing	Hermansky-Pudlak syndrome 9	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.	DOVES_relaxed.owl
MONDO:0033557	biolink:NamedThing	hemophagocytic lymphohistiocytosis, familial, 6		DOVES_relaxed.owl
MONDO:0800147	biolink:NamedThing	hemophagocytic lymphohistiocytosis due to RhoG deficiency	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is an autosomal recessive variation in the RHOG gene.	DOVES_relaxed.owl
MONDO:0008964	biolink:NamedThing	congenital secretory chloride diarrhea 1	Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene.	DOVES_relaxed.owl
MONDO:0015170	biolink:NamedThing	congenital sodium diarrhea	Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.	DOVES_relaxed.owl
MONDO:0045032	biolink:NamedThing	congenital secretory diarrhea		DOVES_relaxed.owl
MONDO:0009635	biolink:NamedThing	microvillus inclusion disease	Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium.	DOVES_relaxed.owl
MONDO:0010036	biolink:NamedThing	congenital secretory sodium diarrhea 3	Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene.	DOVES_relaxed.owl
MONDO:0013184	biolink:NamedThing	congenital diarrhea 5 with tufting enteropathy	Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.	DOVES_relaxed.owl
MONDO:0014808	biolink:NamedThing	congenital secretory sodium diarrhea 8	Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene.	DOVES_relaxed.owl
MONDO:0009338	biolink:NamedThing	hepatic veno-occlusive disease-immunodeficiency syndrome	Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.	DOVES_relaxed.owl
MONDO:0010123	biolink:NamedThing	absent thumb-short stature-immunodeficiency syndrome	An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.	DOVES_relaxed.owl
MONDO:0010293	biolink:NamedThing	ectodermal dysplasia and immune deficiency		DOVES_relaxed.owl
MONDO:0015132	biolink:NamedThing	immunodeficiency predominantly affecting antibody production		DOVES_relaxed.owl
MONDO:0015695	biolink:NamedThing	combined immunodeficiency due to CRAC channel dysfunction	A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.	DOVES_relaxed.owl
MONDO:0015708	biolink:NamedThing	immuno-osseous dysplasia		DOVES_relaxed.owl
MONDO:0013681	biolink:NamedThing	alpha-methylacyl-CoA racemase deficiency	A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.	DOVES_relaxed.owl
MONDO:0018841	biolink:NamedThing	congenital bile acid synthesis defect		DOVES_relaxed.owl
MONDO:0009339	biolink:NamedThing	congenital bile acid synthesis defect 2	Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.	DOVES_relaxed.owl
MONDO:0011906	biolink:NamedThing	congenital bile acid synthesis defect 1	Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.	DOVES_relaxed.owl
MONDO:0013439	biolink:NamedThing	congenital bile acid synthesis defect 3	Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.	DOVES_relaxed.owl
MONDO:0014564	biolink:NamedThing	congenital bile acid synthesis defect 5	Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.	DOVES_relaxed.owl
MONDO:0015015	biolink:NamedThing	congenital bile acid synthesis defect 6	Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.	DOVES_relaxed.owl
MONDO:0009112	biolink:NamedThing	rhizomelic chondrodysplasia punctata type 2	Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.	DOVES_relaxed.owl
MONDO:0010823	biolink:NamedThing	rhizomelic chondrodysplasia punctata type 3	Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.	DOVES_relaxed.owl
MONDO:0100272	biolink:NamedThing	peroxisome biogenesis disorder due to PEX7 defect	Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.	DOVES_relaxed.owl
MONDO:0100307	biolink:NamedThing	adult Refsum disease due to PEX7 defect	An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene.	DOVES_relaxed.owl
MONDO:0010498	biolink:NamedThing	MEND syndrome		DOVES_relaxed.owl
MONDO:0014793	biolink:NamedThing	microcephaly-congenital cataract-psoriasiform dermatitis syndrome		DOVES_relaxed.owl
MONDO:0045017	biolink:NamedThing	cholesterol biosynthetic process disease	A disease that has its basis in the disruption of cholesterol biosynthetic process.	DOVES_relaxed.owl
MONDO:0019408	biolink:NamedThing	Astley-Kendall dysplasia	Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.	DOVES_relaxed.owl
MONDO:0020473	biolink:NamedThing	dappled diaphyseal dysplasia		DOVES_relaxed.owl
MONDO:0008984	biolink:NamedThing	ciliary discoordination due to random ciliary orientation		DOVES_relaxed.owl
MONDO:0008985	biolink:NamedThing	ciliary dyskinesia with transposition of ciliary microtubules		DOVES_relaxed.owl
MONDO:0009449	biolink:NamedThing	ciliary dyskinesia with defective radial spokes		DOVES_relaxed.owl
MONDO:0009450	biolink:NamedThing	ciliary dyskinesia with excessively long cilia		DOVES_relaxed.owl
MONDO:0009484	biolink:NamedThing	primary ciliary dyskinesia 1	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.	DOVES_relaxed.owl
MONDO:0010517	biolink:NamedThing	ciliary dyskinesia, primary, 36, X-linked	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene.	DOVES_relaxed.owl
MONDO:0011718	biolink:NamedThing	primary ciliary dyskinesia 2	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene.	DOVES_relaxed.owl
MONDO:0012085	biolink:NamedThing	primary ciliary dyskinesia 3	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene.	DOVES_relaxed.owl
MONDO:0012087	biolink:NamedThing	primary ciliary dyskinesia 4	A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1.	DOVES_relaxed.owl
MONDO:0012088	biolink:NamedThing	primary ciliary dyskinesia 5	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene.	DOVES_relaxed.owl
MONDO:0012571	biolink:NamedThing	primary ciliary dyskinesia 6	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene.	DOVES_relaxed.owl
MONDO:0012748	biolink:NamedThing	primary ciliary dyskinesia 7	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene.	DOVES_relaxed.owl
MONDO:0012844	biolink:NamedThing	primary ciliary dyskinesia 8	A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25.	DOVES_relaxed.owl
MONDO:0012906	biolink:NamedThing	primary ciliary dyskinesia 9	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene.	DOVES_relaxed.owl
MONDO:0012918	biolink:NamedThing	primary ciliary dyskinesia 10	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene.	DOVES_relaxed.owl
MONDO:0012978	biolink:NamedThing	primary ciliary dyskinesia 11	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene.	DOVES_relaxed.owl
MONDO:0012979	biolink:NamedThing	primary ciliary dyskinesia 12	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene.	DOVES_relaxed.owl
MONDO:0013174	biolink:NamedThing	primary ciliary dyskinesia 13	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene.	DOVES_relaxed.owl
MONDO:0013434	biolink:NamedThing	primary ciliary dyskinesia 14	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene.	DOVES_relaxed.owl
MONDO:0013435	biolink:NamedThing	primary ciliary dyskinesia 15	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene.	DOVES_relaxed.owl
MONDO:0013525	biolink:NamedThing	primary ciliary dyskinesia 16	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene.	DOVES_relaxed.owl
MONDO:0013854	biolink:NamedThing	primary ciliary dyskinesia 17	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene.	DOVES_relaxed.owl
MONDO:0013940	biolink:NamedThing	primary ciliary dyskinesia 18	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene.	DOVES_relaxed.owl
MONDO:0013979	biolink:NamedThing	primary ciliary dyskinesia 19	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene.	DOVES_relaxed.owl
MONDO:0014030	biolink:NamedThing	primary ciliary dyskinesia 20	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene.	DOVES_relaxed.owl
MONDO:0014123	biolink:NamedThing	primary ciliary dyskinesia 21	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene.	DOVES_relaxed.owl
MONDO:0014192	biolink:NamedThing	primary ciliary dyskinesia 22	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene.	DOVES_relaxed.owl
MONDO:0014193	biolink:NamedThing	primary ciliary dyskinesia 23	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.	DOVES_relaxed.owl
MONDO:0014202	biolink:NamedThing	primary ciliary dyskinesia 24	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene.	DOVES_relaxed.owl
MONDO:0014203	biolink:NamedThing	primary ciliary dyskinesia 25	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene.	DOVES_relaxed.owl
MONDO:0014211	biolink:NamedThing	primary ciliary dyskinesia 26	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene.	DOVES_relaxed.owl
MONDO:0014215	biolink:NamedThing	primary ciliary dyskinesia 27	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene.	DOVES_relaxed.owl
MONDO:0014216	biolink:NamedThing	primary ciliary dyskinesia 28	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene.	DOVES_relaxed.owl
MONDO:0014378	biolink:NamedThing	primary ciliary dyskinesia 29	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene.	DOVES_relaxed.owl
MONDO:0014465	biolink:NamedThing	primary ciliary dyskinesia 30	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.	DOVES_relaxed.owl
MONDO:0014657	biolink:NamedThing	primary ciliary dyskinesia 32	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene.	DOVES_relaxed.owl
MONDO:0014750	biolink:NamedThing	primary ciliary dyskinesia 33	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene.	DOVES_relaxed.owl
MONDO:0014909	biolink:NamedThing	primary ciliary dyskinesia 34	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene.	DOVES_relaxed.owl
MONDO:0014910	biolink:NamedThing	primary ciliary dyskinesia 35	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene.	DOVES_relaxed.owl
MONDO:0030332	biolink:NamedThing	ciliary dyskinesia, primary, 46		DOVES_relaxed.owl
MONDO:0030346	biolink:NamedThing	ciliary dyskinesia, primary, 47, and lissencephaly		DOVES_relaxed.owl
MONDO:0031054	biolink:NamedThing	ciliary dyskinesia, primary, 48, without situs inversus		DOVES_relaxed.owl
MONDO:0032637	biolink:NamedThing	ciliary dyskinesia, primary, 39		DOVES_relaxed.owl
MONDO:0032664	biolink:NamedThing	ciliary dyskinesia, primary, 40		DOVES_relaxed.owl
MONDO:0032757	biolink:NamedThing	ciliary dyskinesia, primary, 41		DOVES_relaxed.owl
MONDO:0032872	biolink:NamedThing	ciliary dyskinesia, primary, 42		DOVES_relaxed.owl
MONDO:0032874	biolink:NamedThing	ciliary dyskinesia, primary, 43		DOVES_relaxed.owl
MONDO:0032914	biolink:NamedThing	ciliary dyskinesia, primary, 44		DOVES_relaxed.owl
MONDO:0032924	biolink:NamedThing	ciliary dyskinesia, primary, 45		DOVES_relaxed.owl
MONDO:0033204	biolink:NamedThing	ciliary dyskinesia, primary, 37		DOVES_relaxed.owl
MONDO:0054843	biolink:NamedThing	ciliary dyskinesia, primary, 38		DOVES_relaxed.owl
MONDO:0008990	biolink:NamedThing	cleft larynx, posterior		DOVES_relaxed.owl
MONDO:0017220	biolink:NamedThing	laryngotracheoesophageal cleft type 0	Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course.	DOVES_relaxed.owl
MONDO:0019761	biolink:NamedThing	laryngotracheoesophageal cleft type 1	Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms.	DOVES_relaxed.owl
MONDO:0019762	biolink:NamedThing	laryngotracheoesophageal cleft type 2	Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.	DOVES_relaxed.owl
MONDO:0019763	biolink:NamedThing	laryngotracheoesophageal cleft type 3	Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage.	DOVES_relaxed.owl
MONDO:0019764	biolink:NamedThing	laryngotracheoesophageal cleft type 4	Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.	DOVES_relaxed.owl
MONDO:0008994	biolink:NamedThing	cleidocranial dysplasia, recessive form		DOVES_relaxed.owl
MONDO:0008998	biolink:NamedThing	Cockayne syndrome type 3	Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood.	DOVES_relaxed.owl
MONDO:0019569	biolink:NamedThing	Cockayne syndrome type 1	Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.	DOVES_relaxed.owl
MONDO:0019570	biolink:NamedThing	Cockayne syndrome type 2	Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.	DOVES_relaxed.owl
MONDO:0100506	biolink:NamedThing	Cockayne spectrum with or without cerebrooculofacioskeletal syndrome	An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease.	DOVES_relaxed.owl
MONDO:0009003	biolink:NamedThing	achromatopsia 2	Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms.	DOVES_relaxed.owl
MONDO:0009875	biolink:NamedThing	achromatopsia 3	Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene.	DOVES_relaxed.owl
MONDO:0012398	biolink:NamedThing	retinal cone dystrophy 3A		DOVES_relaxed.owl
MONDO:0013465	biolink:NamedThing	achromatopsia 4	Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene.	DOVES_relaxed.owl
MONDO:0014677	biolink:NamedThing	achromatopsia 7	Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene.	DOVES_relaxed.owl
MONDO:0013343	biolink:NamedThing	C1Q deficiency	C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.	DOVES_relaxed.owl
MONDO:0018342	biolink:NamedThing	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.	DOVES_relaxed.owl
MONDO:0019662	biolink:NamedThing	short rib-polydactyly syndrome, Majewski type		DOVES_relaxed.owl
MONDO:0009071	biolink:NamedThing	hereditary renal hypouricemia	Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).	DOVES_relaxed.owl
MONDO:0010356	biolink:NamedThing	nephrogenic syndrome of inappropriate antidiuresis	Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.	DOVES_relaxed.owl
MONDO:0016579	biolink:NamedThing	dominant hypophosphatemia with nephrolithiasis or osteoporosis		DOVES_relaxed.owl
MONDO:0019394	biolink:NamedThing	Senior-Boichis syndrome	Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.	DOVES_relaxed.owl
MONDO:0014596	biolink:NamedThing	lissencephaly 7 with cerebellar hypoplasia		DOVES_relaxed.owl
MONDO:0014992	biolink:NamedThing	lissencephaly 8	Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene.	DOVES_relaxed.owl
MONDO:0015146	biolink:NamedThing	classic lissencephaly		DOVES_relaxed.owl
MONDO:0015204	biolink:NamedThing	microlissencephaly	Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.	DOVES_relaxed.owl
MONDO:0019450	biolink:NamedThing	lissencephaly with cerebellar hypoplasia	Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.	DOVES_relaxed.owl
MONDO:0030031	biolink:NamedThing	lissencephaly 10		DOVES_relaxed.owl
MONDO:0032677	biolink:NamedThing	lissencephaly 9 with complex brainstem malformation		DOVES_relaxed.owl
MONDO:0020711	biolink:NamedThing	selective peripheral resistance to thyroid hormone	A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary.	DOVES_relaxed.owl
MONDO:0034216	biolink:NamedThing	resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha		DOVES_relaxed.owl
MONDO:0020529	biolink:NamedThing	ACTH-independent Cushing syndrome	Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).	DOVES_relaxed.owl
MONDO:0800377	biolink:NamedThing	ACTH-independent adrenal Cushing syndrome, somatic		DOVES_relaxed.owl
MONDO:0020527	biolink:NamedThing	ectopic Cushing syndrome	Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.	DOVES_relaxed.owl
MONDO:0009052	biolink:NamedThing	cutis laxa, autosomal recessive, type 1A	An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.	DOVES_relaxed.owl
MONDO:0013754	biolink:NamedThing	cutis laxa, autosomal recessive, type 1B	An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.	DOVES_relaxed.owl
MONDO:0100126	biolink:NamedThing	P5CS deficiency	An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.	DOVES_relaxed.owl
MONDO:0014702	biolink:NamedThing	autosomal recessive complex spastic paraplegia type 9B	Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.	DOVES_relaxed.owl
MONDO:0016239	biolink:NamedThing	cystinosis	Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.	DOVES_relaxed.owl
MONDO:0009068	biolink:NamedThing	cytochrome-c oxidase deficiency disease	A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.	DOVES_relaxed.owl
MONDO:0011421	biolink:NamedThing	mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.	DOVES_relaxed.owl
MONDO:0013546	biolink:NamedThing	mitochondrial complex V (ATP synthase) deficiency nuclear type 2	A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.	DOVES_relaxed.owl
MONDO:0013547	biolink:NamedThing	mitochondrial complex V (ATP synthase) deficiency nuclear type 3	Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.	DOVES_relaxed.owl
MONDO:0014091	biolink:NamedThing	mitochondrial complex V (ATP synthase) deficiency nuclear type 4	Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.	DOVES_relaxed.owl
MONDO:0015448	biolink:NamedThing	mitochondrial complex III deficiency	Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).	DOVES_relaxed.owl
MONDO:0020858	biolink:NamedThing	mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5		DOVES_relaxed.owl
MONDO:0033885	biolink:NamedThing	mitochondrial complex IV deficiency, nuclear-type		DOVES_relaxed.owl
MONDO:0100133	biolink:NamedThing	mitochondrial complex I deficiency	A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene.	DOVES_relaxed.owl
MONDO:0100294	biolink:NamedThing	mitochondrial complex II deficiency, nuclear type 1	Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers.	DOVES_relaxed.owl
MONDO:0009070	biolink:NamedThing	D-glyceric aciduria	A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.	DOVES_relaxed.owl
MONDO:0009252	biolink:NamedThing	essential fructosuria	Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.	DOVES_relaxed.owl
MONDO:0009255	biolink:NamedThing	galactokinase deficiency	Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.	DOVES_relaxed.owl
MONDO:0017691	biolink:NamedThing	erythrocyte galactose epimerase deficiency		DOVES_relaxed.owl
MONDO:0017692	biolink:NamedThing	generalized galactose epimerase deficiency		DOVES_relaxed.owl
MONDO:0030105	biolink:NamedThing	galactosemia 4		DOVES_relaxed.owl
MONDO:0020130	biolink:NamedThing	malformation of the cerebellar vermis		DOVES_relaxed.owl
MONDO:0016053	biolink:NamedThing	isolated cerebellar vermis hypoplasia	Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.	DOVES_relaxed.owl
MONDO:0017107	biolink:NamedThing	isolated cerebellar vermis agenesis		DOVES_relaxed.owl
MONDO:0017106	biolink:NamedThing	retrocerebellar cyst		DOVES_relaxed.owl
MONDO:0019953	biolink:NamedThing	mega-cisterna magna		DOVES_relaxed.owl
MONDO:0020351	biolink:NamedThing	Blake pouch cyst	Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.	DOVES_relaxed.owl
MONDO:0009073	biolink:NamedThing	Ritscher-Schinzel syndrome 1	Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene.	DOVES_relaxed.owl
MONDO:0010499	biolink:NamedThing	Ritscher-Schinzel syndrome 2	Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene.	DOVES_relaxed.owl
MONDO:0030331	biolink:NamedThing	Ritscher-Schinzel syndrome 4		DOVES_relaxed.owl
MONDO:0030864	biolink:NamedThing	Ritscher-Schinzel syndrome 3		DOVES_relaxed.owl
MONDO:0009090	biolink:NamedThing	hearing loss, sensorineural, autosomal-mitochondrial type		DOVES_relaxed.owl
MONDO:0012653	biolink:NamedThing	persistent hyperplastic primary vitreous, autosomal dominant		DOVES_relaxed.owl
MONDO:0009101	biolink:NamedThing	Wolfram syndrome 1	Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene.	DOVES_relaxed.owl
MONDO:0010800	biolink:NamedThing	Wolfram syndrome, mitochondrial form		DOVES_relaxed.owl
MONDO:0011502	biolink:NamedThing	Wolfram syndrome 2	Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene.	DOVES_relaxed.owl
MONDO:0014375	biolink:NamedThing	congenital diarrhea 7 with exudative enteropathy	Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.	DOVES_relaxed.owl
MONDO:0015174	biolink:NamedThing	autoimmune enteropathy type 3		DOVES_relaxed.owl
MONDO:0033862	biolink:NamedThing	primary autoimmune enteropathy		DOVES_relaxed.owl
MONDO:0009111	biolink:NamedThing	dihydropyrimidinuria	Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.	DOVES_relaxed.owl
MONDO:0019238	biolink:NamedThing	inborn disorder of pyrimidine metabolism	ANPM	DOVES_relaxed.owl
MONDO:0009378	biolink:NamedThing	hyper-beta-alaninemia	Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case.	DOVES_relaxed.owl
MONDO:0009797	biolink:NamedThing	orotic aciduria	An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.	DOVES_relaxed.owl
MONDO:0013164	biolink:NamedThing	beta-ureidopropionase deficiency	Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).	DOVES_relaxed.owl
MONDO:0100273	biolink:NamedThing	glyceronephosphate O-acyltransferase deficiency	Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene.	DOVES_relaxed.owl
MONDO:0020585	biolink:NamedThing	anemia due to erythrocyte enzyme disorder	Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis.	DOVES_relaxed.owl
MONDO:0009114	biolink:NamedThing	congenital sucrase-isomaltase deficiency	A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterised by malabsorption of sucrose and maltose.	DOVES_relaxed.owl
MONDO:0009115	biolink:NamedThing	congenital lactase deficiency	Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.	DOVES_relaxed.owl
MONDO:0010983	biolink:NamedThing	dystonia 9	A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.	DOVES_relaxed.owl
MONDO:0011449	biolink:NamedThing	Salla disease	Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.	DOVES_relaxed.owl
MONDO:0012396	biolink:NamedThing	exercise-induced hyperinsulinism	Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells.	DOVES_relaxed.owl
MONDO:0012803	biolink:NamedThing	diarrhea-vomiting due to trehalase deficiency	This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.	DOVES_relaxed.owl
MONDO:0015169	biolink:NamedThing	chronic diarrhea due to glucoamylase deficiency	This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency.	DOVES_relaxed.owl
MONDO:0017737	biolink:NamedThing	intermediate severe Salla disease		DOVES_relaxed.owl
MONDO:0009120	biolink:NamedThing	diverticulosis of bowel, hernia, and retinal detachment	A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions.	DOVES_relaxed.owl
MONDO:0015774	biolink:NamedThing	thoraco-abdominal enteric duplication	Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.	DOVES_relaxed.owl
MONDO:0016583	biolink:NamedThing	familial intestinal malrotation-facial anomalies syndrome		DOVES_relaxed.owl
MONDO:0018085	biolink:NamedThing	umbilical cord ulceration-intestinal atresia syndrome	Umbilical cord ulceration-intestinal atresia syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage.	DOVES_relaxed.owl
MONDO:0800030	biolink:NamedThing	gastrointestinal defects and immunodeficiency syndrome 1	A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.	DOVES_relaxed.owl
MONDO:0017759	biolink:NamedThing	disorder of catecholamine synthesis		DOVES_relaxed.owl
MONDO:0012084	biolink:NamedThing	aromatic L-amino acid decarboxylase deficiency	Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.	DOVES_relaxed.owl
MONDO:0020751	biolink:NamedThing	orthostatic hypotension 2		DOVES_relaxed.owl
MONDO:0009126	biolink:NamedThing	duodenal atresia	Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.	DOVES_relaxed.owl
MONDO:0015209	biolink:NamedThing	non-syndromic gastroduodenal malformation	A gastroduodenal malformation that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0016041	biolink:NamedThing	congenital microgastria	Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.	DOVES_relaxed.owl
MONDO:0015211	biolink:NamedThing	non-syndromic intestinal malformation	A intestinal malformation that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0009476	biolink:NamedThing	atresia of small intestine	Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases.	DOVES_relaxed.owl
MONDO:0010562	biolink:NamedThing	colonic atresia	Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.	DOVES_relaxed.owl
MONDO:0014097	biolink:NamedThing	congenital short bowel syndrome	Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.	DOVES_relaxed.owl
MONDO:0016531	biolink:NamedThing	digestive duplication		DOVES_relaxed.owl
MONDO:0018962	biolink:NamedThing	common mesentery		DOVES_relaxed.owl
MONDO:0009746	biolink:NamedThing	hereditary sensory and autonomic neuropathy type 4	Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.	DOVES_relaxed.owl
MONDO:0009748	biolink:NamedThing	hereditary sensory and autonomic neuropathy with spastic paraplegia	This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.	DOVES_relaxed.owl
MONDO:0012092	biolink:NamedThing	hereditary sensory and autonomic neuropathy type 5	Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.	DOVES_relaxed.owl
MONDO:0013839	biolink:NamedThing	hereditary sensory and autonomic neuropathy type 6	Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene.	DOVES_relaxed.owl
MONDO:0015354	biolink:NamedThing	hereditary sensory and autonomic neuropathy with deafness and global delay	This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.	DOVES_relaxed.owl
MONDO:0017750	biolink:NamedThing	defect in conserved oligomeric Golgi complex		DOVES_relaxed.owl
MONDO:0017752	biolink:NamedThing	defect in V-ATPase		DOVES_relaxed.owl
MONDO:0009135	biolink:NamedThing	anemia, congenital dyserythropoietic, type 1a		DOVES_relaxed.owl
MONDO:0014285	biolink:NamedThing	congenital dyserythropoietic anemia type type 1B		DOVES_relaxed.owl
MONDO:0016151	biolink:NamedThing	qualitative or quantitative defects of perlecan		DOVES_relaxed.owl
MONDO:0009143	biolink:NamedThing	Meier-Gorlin syndrome 1	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene.	DOVES_relaxed.owl
MONDO:0013428	biolink:NamedThing	Meier-Gorlin syndrome 2	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene.	DOVES_relaxed.owl
MONDO:0013430	biolink:NamedThing	Meier-Gorlin syndrome 3	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.	DOVES_relaxed.owl
MONDO:0013431	biolink:NamedThing	Meier-Gorlin syndrome 4	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene.	DOVES_relaxed.owl
MONDO:0013432	biolink:NamedThing	Meier-Gorlin syndrome 5	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.	DOVES_relaxed.owl
MONDO:0014794	biolink:NamedThing	Meier-Gorlin syndrome 6	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.	DOVES_relaxed.owl
MONDO:0014894	biolink:NamedThing	Meier-Gorlin syndrome 7	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene.	DOVES_relaxed.owl
MONDO:0033046	biolink:NamedThing	Meier-Gorlin syndrome 8		DOVES_relaxed.owl
MONDO:0009147	biolink:NamedThing	ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		DOVES_relaxed.owl
MONDO:0013983	biolink:NamedThing	ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		DOVES_relaxed.owl
MONDO:0009148	biolink:NamedThing	Rosselli-Gulienetti syndrome	A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene	DOVES_relaxed.owl
MONDO:0010475	biolink:NamedThing	X-linked central congenital hypothyroidism with late-onset testicular enlargement	An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency.	DOVES_relaxed.owl
MONDO:0011365	biolink:NamedThing	blepharophimosis - intellectual disability syndrome, SBBYS type	Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.	DOVES_relaxed.owl
MONDO:0016422	biolink:NamedThing	autoimmune polyendocrinopathy type 3	A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.	DOVES_relaxed.owl
MONDO:0016521	biolink:NamedThing	muscular pseudohypertrophy-hypothyroidism syndrome	Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.	DOVES_relaxed.owl
MONDO:0019506	biolink:NamedThing	obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome	Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.	DOVES_relaxed.owl
MONDO:0022900	biolink:NamedThing	athyreotic congenital hypothyroidism	Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)	DOVES_relaxed.owl
MONDO:0009154	biolink:NamedThing	hypothyroidism, congenital, nongoitrous, 5	Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.	DOVES_relaxed.owl
MONDO:0012360	biolink:NamedThing	congenital nongoitrous hypothryoidism 3	A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1.	DOVES_relaxed.owl
MONDO:0013757	biolink:NamedThing	congenital nongoitrous hypothryoidism 6	Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.	DOVES_relaxed.owl
MONDO:0024264	biolink:NamedThing	hypothyroidism, congenital, nongoitrous, 2	A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.	DOVES_relaxed.owl
MONDO:0026731	biolink:NamedThing	hypothyroidism, congenital, nongoitrous, 8		DOVES_relaxed.owl
MONDO:0026732	biolink:NamedThing	hypothyroidism, congenital, nongoitrous, 9		DOVES_relaxed.owl
MONDO:0032819	biolink:NamedThing	hypothyroidism, congenital, nongoitrous, 7		DOVES_relaxed.owl
MONDO:0009166	biolink:NamedThing	pontocerebellar hypoplasia type 4	Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.	DOVES_relaxed.owl
MONDO:0011948	biolink:NamedThing	pontocerebellar hypoplasia type 3	Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.	DOVES_relaxed.owl
MONDO:0012438	biolink:NamedThing	pontocerebellar hypoplasia type 5	Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.	DOVES_relaxed.owl
MONDO:0013990	biolink:NamedThing	pontocerebellar hypoplasia type 8	A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.	DOVES_relaxed.owl
MONDO:0013993	biolink:NamedThing	pontocerebellar hypoplasia type 7	Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.	DOVES_relaxed.owl
MONDO:0014349	biolink:NamedThing	pontocerebellar hypoplasia type 10	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.	DOVES_relaxed.owl
MONDO:0014351	biolink:NamedThing	pontocerebellar hypoplasia type 9	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.	DOVES_relaxed.owl
MONDO:0014370	biolink:NamedThing	pontocerebellar hypoplasia type 2E	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.	DOVES_relaxed.owl
MONDO:0030258	biolink:NamedThing	pontocerebellar hypoplasia, type 14		DOVES_relaxed.owl
MONDO:0030259	biolink:NamedThing	pontocerebellar hypoplasia, type 15		DOVES_relaxed.owl
MONDO:0030260	biolink:NamedThing	pontocerebellar hypoplasia, type 1E		DOVES_relaxed.owl
MONDO:0030261	biolink:NamedThing	pontocerebellar hypoplasia, type 1F		DOVES_relaxed.owl
MONDO:0030438	biolink:NamedThing	pontocerebellar hypoplasia, type 16		DOVES_relaxed.owl
MONDO:0030890	biolink:NamedThing	pontocerebellar hypoplasia, IIA 17		DOVES_relaxed.owl
MONDO:0032643	biolink:NamedThing	pontocerebellar hypoplasia, type 12		DOVES_relaxed.owl
MONDO:0032831	biolink:NamedThing	pontocerebellar hypoplasia, type 13		DOVES_relaxed.owl
MONDO:0054669	biolink:NamedThing	pontocerebellar hypoplasia, type 11		DOVES_relaxed.owl
MONDO:0054844	biolink:NamedThing	pontocerebellar hypoplasia, type 1D		DOVES_relaxed.owl
MONDO:0016098	biolink:NamedThing	immune-mediated necrotizing myopathy	Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation.	DOVES_relaxed.owl
MONDO:0016099	biolink:NamedThing	overlap myositis	Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature.	DOVES_relaxed.owl
MONDO:0016609	biolink:NamedThing	inflammatory myopathy with abundant macrophages	Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.	DOVES_relaxed.owl
MONDO:0016610	biolink:NamedThing	idiopathic eosinophilic myositis		DOVES_relaxed.owl
MONDO:0018845	biolink:NamedThing	focal myositis	Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.	DOVES_relaxed.owl
MONDO:0019344	biolink:NamedThing	antisynthetase syndrome	Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS).	DOVES_relaxed.owl
MONDO:0009177	biolink:NamedThing	late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0009180	biolink:NamedThing	junctional epidermolysis bullosa, non-Herlitz type	Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.	DOVES_relaxed.owl
MONDO:0009182	biolink:NamedThing	junctional epidermolysis bullosa Herlitz type	Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.	DOVES_relaxed.owl
MONDO:0009183	biolink:NamedThing	junctional epidermolysis bullosa with pyloric atresia	Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.	DOVES_relaxed.owl
MONDO:0019308	biolink:NamedThing	junctional epidermolysis bullosa inversa	Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.	DOVES_relaxed.owl
MONDO:0019309	biolink:NamedThing	late-onset junctional epidermolysis bullosa	Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood.	DOVES_relaxed.owl
MONDO:0030746	biolink:NamedThing	epidermolysis bullosa, junctional 2A, intermediate		DOVES_relaxed.owl
MONDO:0030747	biolink:NamedThing	epidermolysis bullosa, junctional 2B, severe		DOVES_relaxed.owl
MONDO:0030748	biolink:NamedThing	epidermolysis bullosa, junctional 3A, intermediate		DOVES_relaxed.owl
MONDO:0030749	biolink:NamedThing	epidermolysis bullosa, junctional 3B, severe		DOVES_relaxed.owl
MONDO:0030750	biolink:NamedThing	epidermolysis bullosa, junctional 4, intermediate		DOVES_relaxed.owl
MONDO:0030768	biolink:NamedThing	epidermolysis bullosa, junctional 5A, intermediate		DOVES_relaxed.owl
MONDO:0009675	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2A	Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.	DOVES_relaxed.owl
MONDO:0009676	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2B	Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.	DOVES_relaxed.owl
MONDO:0009677	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2C	Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.	DOVES_relaxed.owl
MONDO:0009683	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2H	Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.	DOVES_relaxed.owl
MONDO:0011028	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2F	Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.	DOVES_relaxed.owl
MONDO:0011170	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2G	Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.	DOVES_relaxed.owl
MONDO:0011423	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2E	Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.	DOVES_relaxed.owl
MONDO:0011968	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2D	Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.	DOVES_relaxed.owl
MONDO:0012127	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2J	Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.	DOVES_relaxed.owl
MONDO:0012652	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2L	A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.	DOVES_relaxed.owl
MONDO:0013390	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2Q	Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.	DOVES_relaxed.owl
MONDO:0014144	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type R18	A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.	DOVES_relaxed.owl
MONDO:0014782	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2X	Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.	DOVES_relaxed.owl
MONDO:0014788	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2W	Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.	DOVES_relaxed.owl
MONDO:0014900	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2Y	Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.	DOVES_relaxed.owl
MONDO:0029135	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8		DOVES_relaxed.owl
MONDO:0029136	biolink:NamedThing	muscular dystrophy, limb-girdle, autosomal recessive 23		DOVES_relaxed.owl
MONDO:0030014	biolink:NamedThing	muscular dystrophy, limb-girdle, autosomal recessive 26		DOVES_relaxed.owl
MONDO:0030456	biolink:NamedThing	muscular dystrophy, limb-girdle, autosomal recessive 27		DOVES_relaxed.owl
MONDO:0016198	biolink:NamedThing	qualitative or quantitative defects of plectin		DOVES_relaxed.owl
MONDO:0009187	biolink:NamedThing	celiac disease-epilepsy-cerebral calcification syndrome	Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.	DOVES_relaxed.owl
MONDO:0100029	biolink:NamedThing	antibody mediated epilepsy	An immune epilepsy where the underlying cause is antibody mediated.	DOVES_relaxed.owl
MONDO:0019385	biolink:NamedThing	steroid-responsive encephalopathy associated with autoimmune thyroiditis		DOVES_relaxed.owl
MONDO:0009197	biolink:NamedThing	transient erythroblastopenia of childhood	An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy.	DOVES_relaxed.owl
MONDO:0020113	biolink:NamedThing	primary acquired red cell aplasia		DOVES_relaxed.owl
MONDO:0020338	biolink:NamedThing	adult pure red cell aplasia	Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.	DOVES_relaxed.owl
MONDO:0009206	biolink:NamedThing	factor V and factor VIII, combined deficiency of, type 1	Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.	DOVES_relaxed.owl
MONDO:0009207	biolink:NamedThing	factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor		DOVES_relaxed.owl
MONDO:0013331	biolink:NamedThing	factor 5 and Factor VIII, combined deficiency of, 2	Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene.	DOVES_relaxed.owl
MONDO:0035737	biolink:NamedThing	acquired factor V deficiency		DOVES_relaxed.owl
MONDO:0009211	biolink:NamedThing	congenital factor VII deficiency	Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.	DOVES_relaxed.owl
MONDO:0035738	biolink:NamedThing	acquired factor VII deficiency		DOVES_relaxed.owl
MONDO:0009212	biolink:NamedThing	congenital factor X deficiency	Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.	DOVES_relaxed.owl
MONDO:0011837	biolink:NamedThing	vitamin K-dependent clotting factors, combined deficiency of, type 2	Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene.	DOVES_relaxed.owl
MONDO:0021134	biolink:NamedThing	acquired factor X deficiency	An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition.	DOVES_relaxed.owl
MONDO:0009213	biolink:NamedThing	Fanconi anemia complementation group C	Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.	DOVES_relaxed.owl
MONDO:0009214	biolink:NamedThing	Fanconi anemia complementation group D2	Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.	DOVES_relaxed.owl
MONDO:0010351	biolink:NamedThing	Fanconi anemia complementation group B	Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.	DOVES_relaxed.owl
MONDO:0010953	biolink:NamedThing	Fanconi anemia complementation group E	Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.	DOVES_relaxed.owl
MONDO:0011325	biolink:NamedThing	Fanconi anemia complementation group F	Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.	DOVES_relaxed.owl
MONDO:0012186	biolink:NamedThing	Fanconi anemia complementation group I	Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.	DOVES_relaxed.owl
MONDO:0012187	biolink:NamedThing	Fanconi anemia complementation group J	Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.	DOVES_relaxed.owl
MONDO:0012565	biolink:NamedThing	Fanconi anemia complementation group N	Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.	DOVES_relaxed.owl
MONDO:0013248	biolink:NamedThing	Fanconi anemia complementation group O	Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.	DOVES_relaxed.owl
MONDO:0013499	biolink:NamedThing	Fanconi anemia complementation group P	Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.	DOVES_relaxed.owl
MONDO:0013565	biolink:NamedThing	Fanconi anemia complementation group G	Fanconi anemia caused by mutations of the FANCG gene.	DOVES_relaxed.owl
MONDO:0013566	biolink:NamedThing	Fanconi anemia complementation group L	Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.	DOVES_relaxed.owl
MONDO:0014108	biolink:NamedThing	Fanconi anemia complementation group Q	Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.	DOVES_relaxed.owl
MONDO:0014638	biolink:NamedThing	Fanconi anemia complementation group T	Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.	DOVES_relaxed.owl
MONDO:0014985	biolink:NamedThing	Fanconi anemia complementation group V	Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.	DOVES_relaxed.owl
MONDO:0014986	biolink:NamedThing	Fanconi anemia complementation group R	Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.	DOVES_relaxed.owl
MONDO:0014987	biolink:NamedThing	Fanconi anemia complementation group U	Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.	DOVES_relaxed.owl
MONDO:0044325	biolink:NamedThing	Fanconi anemia, complementation group W		DOVES_relaxed.owl
MONDO:0054748	biolink:NamedThing	Fanconi anemia, complementation group S		DOVES_relaxed.owl
MONDO:0009219	biolink:NamedThing	fascial dystrophy, congenital		DOVES_relaxed.owl
MONDO:0009220	biolink:NamedThing	visceral steatosis, congenital		DOVES_relaxed.owl
MONDO:0009223	biolink:NamedThing	hypogonadotropic hypogonadism 23 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.	DOVES_relaxed.owl
MONDO:0009239	biolink:NamedThing	hypogonadotropic hypogonadism 24 without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.	DOVES_relaxed.owl
MONDO:0013912	biolink:NamedThing	hypogonadotropic hypogonadism 10 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene.	DOVES_relaxed.owl
MONDO:0013914	biolink:NamedThing	hypogonadotropic hypogonadism 12 with or without anosmia	A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.	DOVES_relaxed.owl
MONDO:0013915	biolink:NamedThing	hypogonadotropic hypogonadism 13 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene.	DOVES_relaxed.owl
MONDO:0030010	biolink:NamedThing	hypogonadotropic hypogonadism 25 with anosmia		DOVES_relaxed.owl
MONDO:0030534	biolink:NamedThing	hypogonadotropic hypogonadism 26 with or without anosmia		DOVES_relaxed.owl
MONDO:0030684	biolink:NamedThing	hypogonadotropic hypogonadism 27 without anosmia		DOVES_relaxed.owl
MONDO:0009384	biolink:NamedThing	Leydig cell hypoplasia, type 1	Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.	DOVES_relaxed.owl
MONDO:0009224	biolink:NamedThing	fetal iodine syndrome	Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).	DOVES_relaxed.owl
MONDO:0016004	biolink:NamedThing	aminopterin/methotrexate embryofetopathy	Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.	DOVES_relaxed.owl
MONDO:0016005	biolink:NamedThing	indomethacin embryofetopathy	Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants.	DOVES_relaxed.owl
MONDO:0016007	biolink:NamedThing	cocaine embryofetopathy	A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.	DOVES_relaxed.owl
MONDO:0016009	biolink:NamedThing	fetal trimethadione syndrome	Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.	DOVES_relaxed.owl
MONDO:0016013	biolink:NamedThing	fetal methylmercury syndrome	Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.	DOVES_relaxed.owl
MONDO:0016014	biolink:NamedThing	fetal minoxidil syndrome	Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.	DOVES_relaxed.owl
MONDO:0016015	biolink:NamedThing	phenobarbital embryopathy	A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.	DOVES_relaxed.owl
MONDO:0016378	biolink:NamedThing	maternal hyperthermia induced birth defects	Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.	DOVES_relaxed.owl
MONDO:0044619	biolink:NamedThing	propylthiouracil embryofetopathy	Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).	DOVES_relaxed.owl
MONDO:0016555	biolink:NamedThing	transient congenital hypothyroidism due to maternal factor		DOVES_relaxed.owl
MONDO:0016413	biolink:NamedThing	congenital hypothyroidism due to maternal intake of antithyroid drugs		DOVES_relaxed.owl
MONDO:0019857	biolink:NamedThing	congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies	Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent.	DOVES_relaxed.owl
MONDO:0017055	biolink:NamedThing	mycophenolate mofetil embryopathy	Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.	DOVES_relaxed.owl
MONDO:0018262	biolink:NamedThing	fetal anticonvulsant syndrome		DOVES_relaxed.owl
MONDO:0018442	biolink:NamedThing	acitretin/etretinate embryopathy	Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.	DOVES_relaxed.owl
MONDO:0009227	biolink:NamedThing	myofibromatosis, infantile, 1	Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene.	DOVES_relaxed.owl
MONDO:0014122	biolink:NamedThing	myofibromatosis, infantile, 2	Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene.	DOVES_relaxed.owl
MONDO:0018848	biolink:NamedThing	IgG4-related retroperitoneal fibrosis	Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle.	DOVES_relaxed.owl
MONDO:0017313	biolink:NamedThing	disorder of folate metabolism and transport		DOVES_relaxed.owl
MONDO:0021759	biolink:NamedThing	acquired fructose intolerance	Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications.	DOVES_relaxed.owl
MONDO:0009251	biolink:NamedThing	fructose-1,6-bisphosphatase deficiency	Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.	DOVES_relaxed.owl
MONDO:0009949	biolink:NamedThing	pyruvate carboxylase deficiency disease	Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.	DOVES_relaxed.owl
MONDO:0017294	biolink:NamedThing	glycerol kinase deficiency, infantile form	Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.	DOVES_relaxed.owl
MONDO:0017295	biolink:NamedThing	glycerol kinase deficiency, juvenile form	Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.	DOVES_relaxed.owl
MONDO:0017296	biolink:NamedThing	glycerol kinase deficiency, adult form	Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.	DOVES_relaxed.owl
MONDO:0017320	biolink:NamedThing	phosphoenolpyruvate carboxykinase deficiency	Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.	DOVES_relaxed.owl
MONDO:0009257	biolink:NamedThing	galactose epimerase deficiency	Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.	DOVES_relaxed.owl
MONDO:0009259	biolink:NamedThing	gamma-glutamylcysteine synthetase deficiency	Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.	DOVES_relaxed.owl
MONDO:0040566	biolink:NamedThing	inherited glutathione metabolism disease	An inherited metabolic disease that is has its basis in the disruption of glutathione metabolic process.	DOVES_relaxed.owl
MONDO:0009285	biolink:NamedThing	gamma-glutamyl transpeptidase deficiency	Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.	DOVES_relaxed.owl
MONDO:0009825	biolink:NamedThing	5-oxoprolinase deficiency	5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.	DOVES_relaxed.owl
MONDO:0017909	biolink:NamedThing	inherited glutathione synthetase deficiency	Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.	DOVES_relaxed.owl
MONDO:0009261	biolink:NamedThing	GM1 gangliosidosis type 2	GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.	DOVES_relaxed.owl
MONDO:0009262	biolink:NamedThing	GM1 gangliosidosis type 3	GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.	DOVES_relaxed.owl
MONDO:0018241	biolink:NamedThing	primary short bowel syndrome		DOVES_relaxed.owl
MONDO:0019441	biolink:NamedThing	ATTRV122I amyloidosis	Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.	DOVES_relaxed.owl
MONDO:0030330	biolink:NamedThing	cardiomyopathy, familial restrictive, 6		DOVES_relaxed.owl
MONDO:0009268	biolink:NamedThing	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.	DOVES_relaxed.owl
MONDO:0012517	biolink:NamedThing	atypical Gaucher disease due to saposin C deficiency	Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.	DOVES_relaxed.owl
MONDO:0018375	biolink:NamedThing	traumatic avascular necrosis		DOVES_relaxed.owl
MONDO:0018376	biolink:NamedThing	secondary non-traumatic avascular necrosis		DOVES_relaxed.owl
MONDO:0018378	biolink:NamedThing	osteonecrosis of the jaw	An area of necrotic bone in the mandible or maxilla.	DOVES_relaxed.owl
MONDO:0012126	biolink:NamedThing	familial avascular necrosis of femoral head	Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.	DOVES_relaxed.owl
MONDO:0017015	biolink:NamedThing	primary interstitial lung disease specific to childhood		DOVES_relaxed.owl
MONDO:0800135	biolink:NamedThing	congenital emphysematous lung disease due to Filamin A loss-of-function variant	Any interstitial lung disease specific to childhood caused by a loss-of-function variation in the FLNA gene. Female children are reported more often. Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype.	DOVES_relaxed.owl
MONDO:0009269	biolink:NamedThing	geleophysic dysplasia 1	Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.	DOVES_relaxed.owl
MONDO:0013612	biolink:NamedThing	geleophysic dysplasia 2	Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.	DOVES_relaxed.owl
MONDO:0054722	biolink:NamedThing	geleophysic dysplasia 3		DOVES_relaxed.owl
MONDO:0009273	biolink:NamedThing	hydatidiform mole, recurrent, 1	Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene.	DOVES_relaxed.owl
MONDO:0016785	biolink:NamedThing	complete hydatidiform mole	Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.	DOVES_relaxed.owl
MONDO:0013671	biolink:NamedThing	hydatidiform mole, recurrent, 2	Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene.	DOVES_relaxed.owl
MONDO:0016787	biolink:NamedThing	epithelioid trophoblastic tumor	An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy.	DOVES_relaxed.owl
MONDO:0020549	biolink:NamedThing	invasive hydatidiform mole	A complete hydatidiform mole or very rarely a partial mole that invades the myometrium.	DOVES_relaxed.owl
MONDO:0009275	biolink:NamedThing	neonatal hemochromatosis	Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4	DOVES_relaxed.owl
MONDO:0011012	biolink:NamedThing	African iron overload	African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.	DOVES_relaxed.owl
MONDO:0011417	biolink:NamedThing	hemochromatosis type 3	Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.	DOVES_relaxed.owl
MONDO:0011631	biolink:NamedThing	hemochromatosis type 4	Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.	DOVES_relaxed.owl
MONDO:0014225	biolink:NamedThing	hemochromatosis type 5	Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene.	DOVES_relaxed.owl
MONDO:0019257	biolink:NamedThing	hemochromatosis type 2	Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.	DOVES_relaxed.owl
MONDO:0021001	biolink:NamedThing	hemochromatosis type 1	Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease	DOVES_relaxed.owl
MONDO:0016361	biolink:NamedThing	isolated hereditary giant platelet disorder		DOVES_relaxed.owl
MONDO:0015372	biolink:NamedThing	autosomal dominant macrothrombocytopenia	This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.	DOVES_relaxed.owl
MONDO:0020194	biolink:NamedThing	congenital alacrima		DOVES_relaxed.owl
MONDO:0009281	biolink:NamedThing	glutaryl-CoA dehydrogenase deficiency	Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.	DOVES_relaxed.owl
MONDO:0009529	biolink:NamedThing	pyruvate dehydrogenase E3 deficiency	Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.	DOVES_relaxed.owl
MONDO:0010327	biolink:NamedThing	HSD10 mitochondrial disease	A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.	DOVES_relaxed.owl
MONDO:0010657	biolink:NamedThing	methylmalonic acidemia with homocystinuria, type cblX		DOVES_relaxed.owl
MONDO:0013762	biolink:NamedThing	lipoic acid synthetase deficiency	Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0016001	biolink:NamedThing	2-hydroxyglutaric aciduria	2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.	DOVES_relaxed.owl
MONDO:0017686	biolink:NamedThing	inborn aminoacylase deficiency	An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity.	DOVES_relaxed.owl
MONDO:0009284	biolink:NamedThing	glutathione synthetase deficiency without 5-oxoprolinuria		DOVES_relaxed.owl
MONDO:0009947	biolink:NamedThing	glutathione synthetase deficiency with 5-oxoprolinuria		DOVES_relaxed.owl
MONDO:0009287	biolink:NamedThing	glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.	DOVES_relaxed.owl
MONDO:0023258	biolink:NamedThing	glycogen storage disease type 1 due to SLC37A4 mutation	Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.	DOVES_relaxed.owl
MONDO:0800302	biolink:NamedThing	glycogen storage disease Id		DOVES_relaxed.owl
MONDO:0013047	biolink:NamedThing	glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern.	DOVES_relaxed.owl
MONDO:0011541	biolink:NamedThing	dilated cardiomyopathy 1J	An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.	DOVES_relaxed.owl
MONDO:0030300	biolink:NamedThing	cardiomyopathy, dilated, 2D		DOVES_relaxed.owl
MONDO:0030366	biolink:NamedThing	cardiomyopathy, dilated, 2E		DOVES_relaxed.owl
MONDO:0030680	biolink:NamedThing	cardiomyopathy, dilated, 2F		DOVES_relaxed.owl
MONDO:0030887	biolink:NamedThing	cardiomyopathy, dilated, 2G		DOVES_relaxed.owl
MONDO:0800367	biolink:NamedThing	cardiomyopathy, dilated, 1LL		DOVES_relaxed.owl
MONDO:0800368	biolink:NamedThing	cardiomyopathy, dilated, 1MM		DOVES_relaxed.owl
MONDO:0009505	biolink:NamedThing	lactic aciduria due to D-lactic acid		DOVES_relaxed.owl
MONDO:0011236	biolink:NamedThing	hyperinsulinism due to glucokinase deficiency	Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.	DOVES_relaxed.owl
MONDO:0013587	biolink:NamedThing	glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0100164	biolink:NamedThing	permanent neonatal diabetes mellitus	Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.	DOVES_relaxed.owl
MONDO:0017961	biolink:NamedThing	46,XX disorder of gonadal development		DOVES_relaxed.owl
MONDO:0009300	biolink:NamedThing	Perrault syndrome 1	Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.	DOVES_relaxed.owl
MONDO:0013588	biolink:NamedThing	Perrault syndrome 3	Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene.	DOVES_relaxed.owl
MONDO:0013972	biolink:NamedThing	Perrault syndrome 2	Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene.	DOVES_relaxed.owl
MONDO:0014126	biolink:NamedThing	Perrault syndrome 4	Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene.	DOVES_relaxed.owl
MONDO:0014504	biolink:NamedThing	Perrault syndrome 5	Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene.	DOVES_relaxed.owl
MONDO:0033047	biolink:NamedThing	Perrault syndrome 6		DOVES_relaxed.owl
MONDO:0009307	biolink:NamedThing	granulomatous disease with defect in neutrophil chemotaxis		DOVES_relaxed.owl
MONDO:0009308	biolink:NamedThing	granulomatous disease, chronic, autosomal recessive, cytochrome b-negative		DOVES_relaxed.owl
MONDO:0009309	biolink:NamedThing	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene.	DOVES_relaxed.owl
MONDO:0009310	biolink:NamedThing	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.	DOVES_relaxed.owl
MONDO:0010600	biolink:NamedThing	granulomatous disease, chronic, X-linked		DOVES_relaxed.owl
MONDO:0013507	biolink:NamedThing	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3		DOVES_relaxed.owl
MONDO:0030066	biolink:NamedThing	granulomatous disease, chronic, autosomal recessive, 5		DOVES_relaxed.owl
MONDO:0010476	biolink:NamedThing	neurodegeneration with brain iron accumulation 5	Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.	DOVES_relaxed.owl
MONDO:0011706	biolink:NamedThing	Kufor-Rakeb syndrome	Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.	DOVES_relaxed.owl
MONDO:0013674	biolink:NamedThing	neurodegeneration with brain iron accumulation 4	Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.	DOVES_relaxed.owl
MONDO:0014290	biolink:NamedThing	neurodegeneration with brain iron accumulation 6	COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.	DOVES_relaxed.owl
MONDO:0017998	biolink:NamedThing	PLA2G6-associated neurodegeneration	Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene.	DOVES_relaxed.owl
MONDO:0054763	biolink:NamedThing	neurodegeneration with brain iron accumulation 7		DOVES_relaxed.owl
MONDO:0054764	biolink:NamedThing	neurodegeneration with brain iron accumulation 8		DOVES_relaxed.owl
MONDO:0009329	biolink:NamedThing	pulmonary venoocclusive disease 2	A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal.	DOVES_relaxed.owl
MONDO:0020713	biolink:NamedThing	pulmonary venoocclusive disease 1		DOVES_relaxed.owl
MONDO:0009336	biolink:NamedThing	hemosiderosis, pulmonary, with deficiency of gamma-a globulin		DOVES_relaxed.owl
MONDO:0009337	biolink:NamedThing	Hennekam lymphangiectasia-lymphedema syndrome 1	Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.	DOVES_relaxed.owl
MONDO:0014454	biolink:NamedThing	Hennekam lymphangiectasia-lymphedema syndrome 2	Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene.	DOVES_relaxed.owl
MONDO:0032564	biolink:NamedThing	hennekam lymphangiectasia-lymphedema syndrome 3		DOVES_relaxed.owl
MONDO:0013825	biolink:NamedThing	congenital diarrhea 6	Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene.	DOVES_relaxed.owl
MONDO:0016829	biolink:NamedThing	familial visceral myopathy	A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.	DOVES_relaxed.owl
MONDO:0020493	biolink:NamedThing	Haddad syndrome	Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.	DOVES_relaxed.owl
MONDO:0009345	biolink:NamedThing	histidinemia	Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.	DOVES_relaxed.owl
MONDO:0010167	biolink:NamedThing	urocanic aciduria	Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.	DOVES_relaxed.owl
MONDO:0010083	biolink:NamedThing	succinic semialdehyde dehydrogenase deficiency	Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.	DOVES_relaxed.owl
MONDO:0013166	biolink:NamedThing	GABA aminotransaminase deficiency	Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.	DOVES_relaxed.owl
MONDO:0009354	biolink:NamedThing	methylcobalamin deficiency type cblE	An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.	DOVES_relaxed.owl
MONDO:0017683	biolink:NamedThing	methylcobalamin deficiency type cblDv1		DOVES_relaxed.owl
MONDO:0009357	biolink:NamedThing	humeroradial synostosis with craniofacial anomalies		DOVES_relaxed.owl
MONDO:0017550	biolink:NamedThing	humero-radial synostosis, unilateral		DOVES_relaxed.owl
MONDO:0017551	biolink:NamedThing	humero-radial synostosis, bilateral		DOVES_relaxed.owl
MONDO:0010611	biolink:NamedThing	X-linked hydrocephalus with stenosis of the aqueduct of Sylvius	A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.	DOVES_relaxed.owl
MONDO:0014085	biolink:NamedThing	hydrocephalus, nonsyndromic, autosomal recessive 2	Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene.	DOVES_relaxed.owl
MONDO:0017116	biolink:NamedThing	congenital communicating hydrocephalus		DOVES_relaxed.owl
MONDO:0017117	biolink:NamedThing	congenital non-communicating hydrocephalus		DOVES_relaxed.owl
MONDO:0054794	biolink:NamedThing	hydrocephalus, congenital, 3, with brain anomalies		DOVES_relaxed.owl
MONDO:0009364	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.	DOVES_relaxed.owl
MONDO:0009667	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.	DOVES_relaxed.owl
MONDO:0009678	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.	DOVES_relaxed.owl
MONDO:0013154	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.	DOVES_relaxed.owl
MONDO:0013157	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5		DOVES_relaxed.owl
MONDO:0013158	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.	DOVES_relaxed.owl
MONDO:0013835	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene.	DOVES_relaxed.owl
MONDO:0013904	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.	DOVES_relaxed.owl
MONDO:0014022	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene.	DOVES_relaxed.owl
MONDO:0014071	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene.	DOVES_relaxed.owl
MONDO:0014101	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene.	DOVES_relaxed.owl
MONDO:0014120	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13		DOVES_relaxed.owl
MONDO:0014140	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14		DOVES_relaxed.owl
MONDO:0014683	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9		DOVES_relaxed.owl
MONDO:0013159	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1		DOVES_relaxed.owl
MONDO:0009365	biolink:NamedThing	hydrolethalus syndrome 1	Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.	DOVES_relaxed.owl
MONDO:0013585	biolink:NamedThing	hydrolethalus syndrome 2	Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene.	DOVES_relaxed.owl
MONDO:0009366	biolink:NamedThing	normal pressure hydrocephalus	A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)	DOVES_relaxed.owl
MONDO:0009368	biolink:NamedThing	urofacial syndrome type 1		DOVES_relaxed.owl
MONDO:0014049	biolink:NamedThing	urofacial syndrome 2	Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene.	DOVES_relaxed.owl
MONDO:0009369	biolink:NamedThing	non-immune hydrops fetalis	Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.	DOVES_relaxed.owl
MONDO:0018221	biolink:NamedThing	immune hydrops fetalis	Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.	DOVES_relaxed.owl
MONDO:0009370	biolink:NamedThing	L-2-hydroxyglutaric aciduria	L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.	DOVES_relaxed.owl
MONDO:0010924	biolink:NamedThing	D-2-hydroxyglutaric aciduria	D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.	DOVES_relaxed.owl
MONDO:0014072	biolink:NamedThing	D,L-2-hydroxyglutaric aciduria	D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.	DOVES_relaxed.owl
MONDO:0100058	biolink:NamedThing	hypervalinemia and hyperleucine-isoleucinemia	Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids.	DOVES_relaxed.owl
MONDO:0009372	biolink:NamedThing	encephalopathy due to hydroxykynureninuria	Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.	DOVES_relaxed.owl
MONDO:0010907	biolink:NamedThing	familial hypertryptophanemia	Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.	DOVES_relaxed.owl
MONDO:0009389	biolink:NamedThing	hyperlysinemia due to defect in lysine transport into mitochondria		DOVES_relaxed.owl
MONDO:0013628	biolink:NamedThing	hyperphosphatasia with intellectual disability syndrome 3	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.	DOVES_relaxed.owl
MONDO:0013882	biolink:NamedThing	hyperphosphatasia with intellectual disability syndrome 2	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene.	DOVES_relaxed.owl
MONDO:0014318	biolink:NamedThing	hyperphosphatasia with intellectual disability syndrome 4	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene.	DOVES_relaxed.owl
MONDO:0014457	biolink:NamedThing	hyperphosphatasia with intellectual disability syndrome 5	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene.	DOVES_relaxed.owl
MONDO:0014780	biolink:NamedThing	hyperphosphatasia with intellectual disability syndrome 6	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene.	DOVES_relaxed.owl
MONDO:0009400	biolink:NamedThing	hyperprolinemia type 1	Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).	DOVES_relaxed.owl
MONDO:0023419	biolink:NamedThing	hyperprolinemia	Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.	DOVES_relaxed.owl
MONDO:0009401	biolink:NamedThing	hyperprolinemia type 2	Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.	DOVES_relaxed.owl
MONDO:0100044	biolink:NamedThing	acrofrontofacionasal dysostosis 1		DOVES_relaxed.owl
MONDO:0010012	biolink:NamedThing	autoimmune polyendocrinopathy type 2	Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis.	DOVES_relaxed.owl
MONDO:0016423	biolink:NamedThing	autoimmune polyendocrinopathy type 4		DOVES_relaxed.owl
MONDO:0009424	biolink:NamedThing	Bartter disease type 2	Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.	DOVES_relaxed.owl
MONDO:0100343	biolink:NamedThing	antenatal Bartter syndrome	A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome.	DOVES_relaxed.owl
MONDO:0010503	biolink:NamedThing	Bartter disease type 5	Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.	DOVES_relaxed.owl
MONDO:0100344	biolink:NamedThing	Bartter disease type 1		DOVES_relaxed.owl
MONDO:0009433	biolink:NamedThing	hypoplastic left heart syndrome 1	Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene.	DOVES_relaxed.owl
MONDO:0013752	biolink:NamedThing	hypoplastic left heart syndrome 2	Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene.	DOVES_relaxed.owl
MONDO:0009434	biolink:NamedThing	hypoproteinemia, hypercatabolic		DOVES_relaxed.owl
MONDO:0011476	biolink:NamedThing	MHC class I deficiency	Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.	DOVES_relaxed.owl
MONDO:0009436	biolink:NamedThing	congenital hypothalamic hamartoma syndrome	Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic.	DOVES_relaxed.owl
MONDO:0009438	biolink:NamedThing	hypouricemia, hypercalcinuria, and decreased bone density		DOVES_relaxed.owl
MONDO:0010620	biolink:NamedThing	hypouricemia, familial renal, due to tubular hypersecretion		DOVES_relaxed.owl
MONDO:0012793	biolink:NamedThing	hypouricemia, renal, 2		DOVES_relaxed.owl
MONDO:0020728	biolink:NamedThing	hypouricemia, renal 1		DOVES_relaxed.owl
MONDO:0009439	biolink:NamedThing	autosomal recessive congenital ichthyosis 2	An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.	DOVES_relaxed.owl
MONDO:0017267	biolink:NamedThing	self-healing collodion baby	Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.	DOVES_relaxed.owl
MONDO:0019306	biolink:NamedThing	congenital non-bullous ichthyosiform erythroderma	A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.	DOVES_relaxed.owl
MONDO:0014009	biolink:NamedThing	autosomal recessive congenital ichthyosis 7	An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1.	DOVES_relaxed.owl
MONDO:0014010	biolink:NamedThing	autosomal recessive congenital ichthyosis 9	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene.	DOVES_relaxed.owl
MONDO:0014011	biolink:NamedThing	autosomal recessive congenital ichthyosis 10	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.	DOVES_relaxed.owl
MONDO:0009441	biolink:NamedThing	autosomal recessive congenital ichthyosis 1	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene.	DOVES_relaxed.owl
MONDO:0015018	biolink:NamedThing	ichthyosis, congenital, autosomal recessive 12	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene.	DOVES_relaxed.owl
MONDO:0015085	biolink:NamedThing	bathing suit ichthyosis	Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.	DOVES_relaxed.owl
MONDO:0017268	biolink:NamedThing	acral self-healing collodion baby	Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities.	DOVES_relaxed.owl
MONDO:0033091	biolink:NamedThing	ichthyosis, congenital, autosomal recessive 14		DOVES_relaxed.owl
MONDO:0033092	biolink:NamedThing	ichthyosis, congenital, autosomal recessive 13		DOVES_relaxed.owl
MONDO:0044742	biolink:NamedThing	autosomal recessive epidermolytic ichthyosis		DOVES_relaxed.owl
MONDO:0009443	biolink:NamedThing	autosomal recessive congenital ichthyosis 4B	Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.	DOVES_relaxed.owl
MONDO:0009454	biolink:NamedThing	immunodeficiency-centromeric instability-facial anomalies syndrome 1	Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene.	DOVES_relaxed.owl
MONDO:0013553	biolink:NamedThing	immunodeficiency-centromeric instability-facial anomalies syndrome 2	Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene.	DOVES_relaxed.owl
MONDO:0014828	biolink:NamedThing	immunodeficiency-centromeric instability-facial anomalies syndrome 3	Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene.	DOVES_relaxed.owl
MONDO:0014829	biolink:NamedThing	immunodeficiency-centromeric instability-facial anomalies syndrome 4	Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.	DOVES_relaxed.owl
MONDO:0009456	biolink:NamedThing	Immunoerythromyeloid hypoplasia		DOVES_relaxed.owl
MONDO:0011559	biolink:NamedThing	benign recurrent intrahepatic cholestasis type 2		DOVES_relaxed.owl
MONDO:0013812	biolink:NamedThing	Baraitser-winter syndrome 2	Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene.	DOVES_relaxed.owl
MONDO:0009471	biolink:NamedThing	intrinsic factor and r binder, combined congenital deficiency of		DOVES_relaxed.owl
MONDO:0010023	biolink:NamedThing	combined immunodeficiency due to ZAP70 deficiency	Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.	DOVES_relaxed.owl
MONDO:0010455	biolink:NamedThing	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.	DOVES_relaxed.owl
MONDO:0010514	biolink:NamedThing	combined immunodeficiency due to moesin deficiency		DOVES_relaxed.owl
MONDO:0012161	biolink:NamedThing	susceptibility to respiratory infections associated with CD8alpha chain mutation	Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.	DOVES_relaxed.owl
MONDO:0013934	biolink:NamedThing	combined immunodeficiency due to STK4 deficiency	Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).	DOVES_relaxed.owl
MONDO:0014082	biolink:NamedThing	cryptosporidiosis-chronic cholangitis-liver disease syndrome		DOVES_relaxed.owl
MONDO:0014160	biolink:NamedThing	TCR-alpha-beta-positive T-cell deficiency	A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta.	DOVES_relaxed.owl
MONDO:0014197	biolink:NamedThing	combined immunodeficiency due to MALT1 deficiency	Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.	DOVES_relaxed.owl
MONDO:0014276	biolink:NamedThing	combined immunodeficiency due to CD3gamma deficiency	Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.	DOVES_relaxed.owl
MONDO:0014637	biolink:NamedThing	DOCK2 deficiency		DOVES_relaxed.owl
MONDO:0014645	biolink:NamedThing	BENTA disease	BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results.	DOVES_relaxed.owl
MONDO:0014760	biolink:NamedThing	TFRC-related combined immunodeficiency		DOVES_relaxed.owl
MONDO:0015975	biolink:NamedThing	hyper-IgM syndrome with susceptibility to opportunistic infections		DOVES_relaxed.owl
MONDO:0016536	biolink:NamedThing	autosomal recessive lymphoproliferative disease	A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia.	DOVES_relaxed.owl
MONDO:0018642	biolink:NamedThing	NIK deficiency	A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14).	DOVES_relaxed.owl
MONDO:0800136	biolink:NamedThing	non-severe combined immunodeficiency due to COPG1 deficiency	Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene.	DOVES_relaxed.owl
MONDO:0800139	biolink:NamedThing	HELIOS deficiency	A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy.	DOVES_relaxed.owl
MONDO:0800140	biolink:NamedThing	ITPKB deficiency	Any non-severe combined immunodeficiency in which the cause of the disease is variation in the ITPKB gene.	DOVES_relaxed.owl
MONDO:0800141	biolink:NamedThing	MAN2B2 deficiency	Any non-severe combined immunodeficiency in which the cause of the disease is variation in the MAN2B2 gene.	DOVES_relaxed.owl
MONDO:0800145	biolink:NamedThing	non-severe combined immunodeficiency due to polymerase delta deficiency	Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene.	DOVES_relaxed.owl
MONDO:0020679	biolink:NamedThing	conductive hearing loss disorder	Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea.	DOVES_relaxed.owl
MONDO:0020707	biolink:NamedThing	central hearing loss	Hearing loss resulting from disorders of the central nervous system auditory pathways.	DOVES_relaxed.owl
MONDO:0043765	biolink:NamedThing	presbycusis	Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process.	DOVES_relaxed.owl
MONDO:0044001	biolink:NamedThing	hearing loss, mixed conductive-sensorineural	Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear.	DOVES_relaxed.owl
MONDO:0009489	biolink:NamedThing	hereditary palmoplantar keratoderma, Gamborg-Nielsen type	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.	DOVES_relaxed.owl
MONDO:0009552	biolink:NamedThing	mal de Meleda	Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.	DOVES_relaxed.owl
MONDO:0014272	biolink:NamedThing	palmoplantar keratoderma, Nagashima type	Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.	DOVES_relaxed.owl
MONDO:0015978	biolink:NamedThing	functional neutrophil defect		DOVES_relaxed.owl
MONDO:0009506	biolink:NamedThing	specific granule deficiency		DOVES_relaxed.owl
MONDO:0009694	biolink:NamedThing	myeloperoxidase deficiency		DOVES_relaxed.owl
MONDO:0018643	biolink:NamedThing	susceptibility to localized juvenile periodontitis		DOVES_relaxed.owl
MONDO:0009502	biolink:NamedThing	pyruvate dehydrogenase E2 deficiency	Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.	DOVES_relaxed.owl
MONDO:0009503	biolink:NamedThing	pyruvate dehydrogenase E3-binding protein deficiency	Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.	DOVES_relaxed.owl
MONDO:0010717	biolink:NamedThing	pyruvate dehydrogenase E1-alpha deficiency	Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.	DOVES_relaxed.owl
MONDO:0012120	biolink:NamedThing	pyruvate dehydrogenase phosphatase deficiency	Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.	DOVES_relaxed.owl
MONDO:0013580	biolink:NamedThing	pyruvate dehydrogenase E1-beta deficiency	Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.	DOVES_relaxed.owl
MONDO:0009504	biolink:NamedThing	mitochondrial DNA depletion syndrome 9	Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.	DOVES_relaxed.owl
MONDO:0012792	biolink:NamedThing	mitochondrial DNA depletion syndrome 8a	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.	DOVES_relaxed.owl
MONDO:0014198	biolink:NamedThing	mitochondrial DNA depletion syndrome 13	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.	DOVES_relaxed.owl
MONDO:0009629	biolink:NamedThing	Desbuquois dysplasia 1	Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.	DOVES_relaxed.owl
MONDO:0010075	biolink:NamedThing	spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.	DOVES_relaxed.owl
MONDO:0013800	biolink:NamedThing	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.	DOVES_relaxed.owl
MONDO:0014343	biolink:NamedThing	Desbuquois dysplasia 2	Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.	DOVES_relaxed.owl
MONDO:0032703	biolink:NamedThing	short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis		DOVES_relaxed.owl
MONDO:0009519	biolink:NamedThing	letterer-Siwe disease	A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia.	DOVES_relaxed.owl
MONDO:0017025	biolink:NamedThing	Langerhans cell histiocytosis specific to childhood	Langerhans cell histiocytosis that occurs during childhood.	DOVES_relaxed.owl
MONDO:0020518	biolink:NamedThing	Hashimoto-Pritzker syndrome	Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules).	DOVES_relaxed.owl
MONDO:0016961	biolink:NamedThing	partial duplication of the long arm of chromosome 10		DOVES_relaxed.owl
MONDO:0015712	biolink:NamedThing	non-distal trisomy 10q	Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.	DOVES_relaxed.owl
MONDO:0017180	biolink:NamedThing	10q22.3q23.3 microduplication syndrome		DOVES_relaxed.owl
MONDO:0019884	biolink:NamedThing	distal trisomy 10q	Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.	DOVES_relaxed.owl
MONDO:0017051	biolink:NamedThing	classic maple syrup urine disease	Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.	DOVES_relaxed.owl
MONDO:0017052	biolink:NamedThing	intermediate maple syrup urine disease	Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.	DOVES_relaxed.owl
MONDO:0017053	biolink:NamedThing	intermittent maple syrup urine disease	Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.	DOVES_relaxed.owl
MONDO:0017054	biolink:NamedThing	thiamine-responsive maple syrup urine disease	Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine.	DOVES_relaxed.owl
MONDO:0023691	biolink:NamedThing	maple syrup urine disease type 1A	A maple syrup urine disease caused by mutations in BCKDHA.	DOVES_relaxed.owl
MONDO:0023692	biolink:NamedThing	maple syrup urine disease type 1B	A maple syrup urine disease caused by mutations in BCKDHB.	DOVES_relaxed.owl
MONDO:0023693	biolink:NamedThing	maple syrup urine disease type 2	A maple syrup urine disease caused by mutations in DBT.	DOVES_relaxed.owl
MONDO:0014576	biolink:NamedThing	lipoyl transferase 1 deficiency		DOVES_relaxed.owl
MONDO:0014803	biolink:NamedThing	spasticity-ataxia-gait anomalies syndrome		DOVES_relaxed.owl
MONDO:0017338	biolink:NamedThing	fatal multiple mitochondrial dysfunctions syndrome	Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.	DOVES_relaxed.owl
MONDO:0010239	biolink:NamedThing	lissencephaly type 1 due to doublecortin gene mutation	Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.	DOVES_relaxed.owl
MONDO:0011830	biolink:NamedThing	lissencephaly due to LIS1 mutation	Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.	DOVES_relaxed.owl
MONDO:0015205	biolink:NamedThing	isolated lissencephaly type 1 without known genetic defects	Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.	DOVES_relaxed.owl
MONDO:0009537	biolink:NamedThing	lymphoid interstitial pneumonia	Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment.	DOVES_relaxed.owl
MONDO:0009887	biolink:NamedThing	desquamative interstitial pneumonia	A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis.	DOVES_relaxed.owl
MONDO:0015264	biolink:NamedThing	cryptogenic organizing pneumonia	Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found.	DOVES_relaxed.owl
MONDO:0017591	biolink:NamedThing	combined pulmonary fibrosis-emphysema syndrome		DOVES_relaxed.owl
MONDO:0019204	biolink:NamedThing	respiratory bronchiolitis-interstitial lung disease syndrome	Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.	DOVES_relaxed.owl
MONDO:0019622	biolink:NamedThing	non-specific interstitial pneumonia	Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia.	DOVES_relaxed.owl
MONDO:0044633	biolink:NamedThing	idiopathic pleuroparenchymal fibroelastosis		DOVES_relaxed.owl
MONDO:0800114	biolink:NamedThing	follicular bronchiolits	A polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.	DOVES_relaxed.owl
MONDO:0017624	biolink:NamedThing	familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).	DOVES_relaxed.owl
MONDO:0009549	biolink:NamedThing	severe early-childhood-onset retinal dystrophy	Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy.	DOVES_relaxed.owl
MONDO:0010819	biolink:NamedThing	Stargardt disease 3		DOVES_relaxed.owl
MONDO:0011370	biolink:NamedThing	Stargardt disease 4	Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene.	DOVES_relaxed.owl
MONDO:0009554	biolink:NamedThing	3MC syndrome 3	Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene.	DOVES_relaxed.owl
MONDO:0009770	biolink:NamedThing	3MC syndrome 1	Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.	DOVES_relaxed.owl
MONDO:0009927	biolink:NamedThing	3MC syndrome 2	Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.	DOVES_relaxed.owl
MONDO:0009568	biolink:NamedThing	mast syndrome	Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.	DOVES_relaxed.owl
MONDO:0017915	biolink:NamedThing	pure or complex autosomal recessive spastic paraplegia		DOVES_relaxed.owl
MONDO:0010047	biolink:NamedThing	hereditary spastic paraplegia 5A	Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.	DOVES_relaxed.owl
MONDO:0011445	biolink:NamedThing	hereditary spastic paraplegia 11	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene.	DOVES_relaxed.owl
MONDO:0011522	biolink:NamedThing	hereditary spastic paraplegia 14	A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28.	DOVES_relaxed.owl
MONDO:0012866	biolink:NamedThing	hereditary spastic paraplegia 35	Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.	DOVES_relaxed.owl
MONDO:0014015	biolink:NamedThing	hereditary spastic paraplegia 56	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.	DOVES_relaxed.owl
MONDO:0013482	biolink:NamedThing	Meckel syndrome, type 8	Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene.	DOVES_relaxed.owl
MONDO:0013609	biolink:NamedThing	Meckel syndrome, type 10	Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene.	DOVES_relaxed.owl
MONDO:0013630	biolink:NamedThing	Meckel syndrome, type 9	Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene.	DOVES_relaxed.owl
MONDO:0014164	biolink:NamedThing	Meckel syndrome, type 11	Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene.	DOVES_relaxed.owl
MONDO:0030819	biolink:NamedThing	meckel syndrome 14		DOVES_relaxed.owl
MONDO:0033044	biolink:NamedThing	Meckel syndrome 13		DOVES_relaxed.owl
MONDO:0013761	biolink:NamedThing	childhood encephalopathy due to thiamine pyrophosphokinase deficiency		DOVES_relaxed.owl
MONDO:0009580	biolink:NamedThing	intellectual disability, autosomal recessive 1	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene.	DOVES_relaxed.owl
MONDO:0011828	biolink:NamedThing	intellectual disability, autosomal recessive 2	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene.	DOVES_relaxed.owl
MONDO:0012037	biolink:NamedThing	intellectual disability, autosomal recessive 3	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene.	DOVES_relaxed.owl
MONDO:0012612	biolink:NamedThing	intellectual disability, autosomal recessive 12		DOVES_relaxed.owl
MONDO:0012613	biolink:NamedThing	intellectual disability, autosomal recessive 5	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.	DOVES_relaxed.owl
MONDO:0012614	biolink:NamedThing	intellectual disability, autosomal recessive 6	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene.	DOVES_relaxed.owl
MONDO:0012615	biolink:NamedThing	intellectual disability, autosomal recessive 7	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene.	DOVES_relaxed.owl
MONDO:0012617	biolink:NamedThing	intellectual disability, autosomal recessive 9		DOVES_relaxed.owl
MONDO:0012618	biolink:NamedThing	intellectual disability, autosomal recessive 10		DOVES_relaxed.owl
MONDO:0012619	biolink:NamedThing	intellectual disability, autosomal recessive 11		DOVES_relaxed.owl
MONDO:0012623	biolink:NamedThing	intellectual disability, autosomal recessive 4		DOVES_relaxed.owl
MONDO:0013173	biolink:NamedThing	intellectual disability, autosomal recessive 13	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.	DOVES_relaxed.owl
MONDO:0013528	biolink:NamedThing	intellectual disability, autosomal recessive 14	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene.	DOVES_relaxed.owl
MONDO:0013624	biolink:NamedThing	Rafiq syndrome	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene.	DOVES_relaxed.owl
MONDO:0013629	biolink:NamedThing	intellectual disability, autosomal recessive 16		DOVES_relaxed.owl
MONDO:0013651	biolink:NamedThing	intellectual disability, autosomal recessive 18	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene.	DOVES_relaxed.owl
MONDO:0013694	biolink:NamedThing	intellectual disability, autosomal recessive 31		DOVES_relaxed.owl
MONDO:0013697	biolink:NamedThing	intellectual disability, autosomal recessive 29		DOVES_relaxed.owl
MONDO:0013702	biolink:NamedThing	intellectual disability, autosomal recessive 27	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.	DOVES_relaxed.owl
MONDO:0013703	biolink:NamedThing	intellectual disability, autosomal recessive 33		DOVES_relaxed.owl
MONDO:0013704	biolink:NamedThing	intellectual disability, autosomal recessive 30		DOVES_relaxed.owl
MONDO:0013705	biolink:NamedThing	intellectual disability, autosomal recessive 19		DOVES_relaxed.owl
MONDO:0013706	biolink:NamedThing	intellectual disability, autosomal recessive 23		DOVES_relaxed.owl
MONDO:0013707	biolink:NamedThing	intellectual disability, autosomal recessive 24		DOVES_relaxed.owl
MONDO:0013708	biolink:NamedThing	intellectual disability, autosomal recessive 25		DOVES_relaxed.owl
MONDO:0013709	biolink:NamedThing	intellectual disability, autosomal recessive 28		DOVES_relaxed.owl
MONDO:0013785	biolink:NamedThing	intellectual disability, autosomal recessive 34	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene.	DOVES_relaxed.owl
MONDO:0014348	biolink:NamedThing	intellectual disability, autosomal recessive 42	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.	DOVES_relaxed.owl
MONDO:0014354	biolink:NamedThing	intellectual disability, autosomal recessive 43	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene.	DOVES_relaxed.owl
MONDO:0014409	biolink:NamedThing	intellectual disability, autosomal recessive 44	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene.	DOVES_relaxed.owl
MONDO:0014430	biolink:NamedThing	intellectual disability, autosomal recessive 45	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene.	DOVES_relaxed.owl
MONDO:0014499	biolink:NamedThing	intellectual disability, autosomal recessive 46	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene.	DOVES_relaxed.owl
MONDO:0014524	biolink:NamedThing	intellectual disability, autosomal recessive 47	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene.	DOVES_relaxed.owl
MONDO:0014648	biolink:NamedThing	Al-Raqad syndrome		DOVES_relaxed.owl
MONDO:0014649	biolink:NamedThing	intellectual disability, autosomal recessive 50	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene.	DOVES_relaxed.owl
MONDO:0014759	biolink:NamedThing	intellectual disability, autosomal recessive 51	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene.	DOVES_relaxed.owl
MONDO:0014815	biolink:NamedThing	intellectual disability, autosomal recessive 52	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene.	DOVES_relaxed.owl
MONDO:0014876	biolink:NamedThing	intellectual disability, autosomal recessive 54	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene.	DOVES_relaxed.owl
MONDO:0014930	biolink:NamedThing	intellectual disability, autosomal recessive 56	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene.	DOVES_relaxed.owl
MONDO:0014962	biolink:NamedThing	intellectual disability, autosomal recessive 57	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene.	DOVES_relaxed.owl
MONDO:0014996	biolink:NamedThing	intellectual disability, autosomal recessive 58	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.	DOVES_relaxed.owl
MONDO:0015020	biolink:NamedThing	intellectual disability, autosomal recessive 59	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene.	DOVES_relaxed.owl
MONDO:0020846	biolink:NamedThing	intellectual disability, autosomal recessive 64		DOVES_relaxed.owl
MONDO:0020850	biolink:NamedThing	intellectual disability, autosomal recessive 65		DOVES_relaxed.owl
MONDO:0030533	biolink:NamedThing	intellectual developmental disorder, autosomal recessive 73		DOVES_relaxed.owl
MONDO:0030785	biolink:NamedThing	intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly		DOVES_relaxed.owl
MONDO:0030915	biolink:NamedThing	intellectual disability, autosomal recessive 61	An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.	DOVES_relaxed.owl
MONDO:0030968	biolink:NamedThing	intellectual developmental disorder, autosomal recessive 76		DOVES_relaxed.owl
MONDO:0031031	biolink:NamedThing	intellectual developmental disorder, autosomal recessive 77		DOVES_relaxed.owl
MONDO:0032605	biolink:NamedThing	intellectual disability, autosomal recessive 66		DOVES_relaxed.owl
MONDO:0032662	biolink:NamedThing	intellectual developmental disorder, autosomal recessive 67		DOVES_relaxed.owl
MONDO:0032665	biolink:NamedThing	intellectual developmental disorder, autosomal recessive 68		DOVES_relaxed.owl
MONDO:0032715	biolink:NamedThing	intellectual developmental disorder, autosomal recessive 69		DOVES_relaxed.owl
MONDO:0032729	biolink:NamedThing	intellectual developmental disorder, autosomal recessive 70		DOVES_relaxed.owl
MONDO:0032789	biolink:NamedThing	intellectual developmental disorder, autosomal recessive 71		DOVES_relaxed.owl
MONDO:0032860	biolink:NamedThing	intellectual developmental disorder, autosomal recessive 72		DOVES_relaxed.owl
MONDO:0044313	biolink:NamedThing	intellectual disability, autosomal recessive 60		DOVES_relaxed.owl
MONDO:0054861	biolink:NamedThing	intellectual disability, autosomal recessive 63		DOVES_relaxed.owl
MONDO:0100255	biolink:NamedThing	adenosine kinase deficiency	A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.	DOVES_relaxed.owl
MONDO:0009583	biolink:NamedThing	blepharophimosis - intellectual disability syndrome, Ohdo type	Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.	DOVES_relaxed.owl
MONDO:0009601	biolink:NamedThing	metaphyseal dysplasia without hypotrichosis		DOVES_relaxed.owl
MONDO:0009604	biolink:NamedThing	methemoglobin reductase deficiency		DOVES_relaxed.owl
MONDO:0009605	biolink:NamedThing	methemoglobinemia type 4	Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene.	DOVES_relaxed.owl
MONDO:0009606	biolink:NamedThing	methemoglobinemia due to deficiency of methemoglobin reductase		DOVES_relaxed.owl
MONDO:0018023	biolink:NamedThing	hemoglobin M disease		DOVES_relaxed.owl
MONDO:0020835	biolink:NamedThing	methemoglobinemia, alpha type		DOVES_relaxed.owl
MONDO:0009610	biolink:NamedThing	3-methylglutaconic aciduria type 1	3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.	DOVES_relaxed.owl
MONDO:0009611	biolink:NamedThing	3-methylglutaconic aciduria type 4	3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).	DOVES_relaxed.owl
MONDO:0009787	biolink:NamedThing	3-methylglutaconic aciduria type 3	3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.	DOVES_relaxed.owl
MONDO:0012435	biolink:NamedThing	3-methylglutaconic aciduria type 5	A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.	DOVES_relaxed.owl
MONDO:0014561	biolink:NamedThing	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia	Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene.	DOVES_relaxed.owl
MONDO:0044723	biolink:NamedThing	3-methylglutaconic aciduria type 8		DOVES_relaxed.owl
MONDO:0044724	biolink:NamedThing	3-methylglutaconic aciduria type 9		DOVES_relaxed.owl
MONDO:0009615	biolink:NamedThing	methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.	DOVES_relaxed.owl
MONDO:0009613	biolink:NamedThing	methylmalonic aciduria, cblA type	An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.	DOVES_relaxed.owl
MONDO:0009614	biolink:NamedThing	methylmalonic aciduria, cblB type	An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.	DOVES_relaxed.owl
MONDO:0017685	biolink:NamedThing	vitamin B12-responsive methylmalonic acidemia, type cblDv2		DOVES_relaxed.owl
MONDO:0009617	biolink:NamedThing	microcephaly 1, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.	DOVES_relaxed.owl
MONDO:0011372	biolink:NamedThing	microcephaly with simplified gyral pattern		DOVES_relaxed.owl
MONDO:0011435	biolink:NamedThing	microcephaly 2, primary, autosomal recessive, with or without cortical malformations		DOVES_relaxed.owl
MONDO:0011437	biolink:NamedThing	microcephaly 4, primary, autosomal recessive		DOVES_relaxed.owl
MONDO:0011488	biolink:NamedThing	microcephaly 3, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene.	DOVES_relaxed.owl
MONDO:0012106	biolink:NamedThing	microcephaly 5, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene.	DOVES_relaxed.owl
MONDO:0012989	biolink:NamedThing	microcephaly 7, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene.	DOVES_relaxed.owl
MONDO:0013849	biolink:NamedThing	microcephaly 8, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene.	DOVES_relaxed.owl
MONDO:0013923	biolink:NamedThing	microcephaly 9, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene.	DOVES_relaxed.owl
MONDO:0014173	biolink:NamedThing	microcephaly 11, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.	DOVES_relaxed.owl
MONDO:0014484	biolink:NamedThing	microcephaly 12, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene.	DOVES_relaxed.owl
MONDO:0014623	biolink:NamedThing	microcephaly 14, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene.	DOVES_relaxed.owl
MONDO:0014660	biolink:NamedThing	microcephaly 15, primary, autosomal recessive		DOVES_relaxed.owl
MONDO:0014730	biolink:NamedThing	microcephaly 16, primary, autosomal recessive		DOVES_relaxed.owl
MONDO:0014908	biolink:NamedThing	microcephaly 17, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene.	DOVES_relaxed.owl
MONDO:0030339	biolink:NamedThing	microcephaly 28, primary, autosomal recessive		DOVES_relaxed.owl
MONDO:0031060	biolink:NamedThing	microcephaly 29, primary, autosomal recessive		DOVES_relaxed.owl
MONDO:0032583	biolink:NamedThing	microcephaly 24, primary, autosomal recessive		DOVES_relaxed.owl
MONDO:0032694	biolink:NamedThing	microcephaly 25, primary, autosomal recessive		DOVES_relaxed.owl
MONDO:0054716	biolink:NamedThing	microcephaly 19, primary, autosomal recessive		DOVES_relaxed.owl
MONDO:0054761	biolink:NamedThing	microcephaly 20, primary, autosomal recessive		DOVES_relaxed.owl
MONDO:0054804	biolink:NamedThing	microcephaly 21, primary, autosomal recessive		DOVES_relaxed.owl
MONDO:0054805	biolink:NamedThing	microcephaly 22, primary, autosomal recessive		DOVES_relaxed.owl
MONDO:0054806	biolink:NamedThing	microcephaly 23, primary, autosomal recessive		DOVES_relaxed.owl
MONDO:0700054	biolink:NamedThing	microcephaly 6 with or without short stature	Disorder of fetal brain growth; individuals have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Clinical features include the features of ‘microcephaly 6, primary, autosomal recessive’ and 'Seckel syndrome', and may include short stature or mild seizures.	DOVES_relaxed.owl
MONDO:0010243	biolink:NamedThing	X-linked immunoneurologic disorder	X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.	DOVES_relaxed.owl
MONDO:0012859	biolink:NamedThing	autosomal recessive osteopetrosis 7	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.	DOVES_relaxed.owl
MONDO:0013576	biolink:NamedThing	recurrent infections associated with rare immunoglobulin isotypes deficiency	Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.	DOVES_relaxed.owl
MONDO:0014592	biolink:NamedThing	microcephaly and chorioretinopathy 3	Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.	DOVES_relaxed.owl
MONDO:0009625	biolink:NamedThing	diencephalic-mesencephalic junction dysplasia syndrome 1		DOVES_relaxed.owl
MONDO:0020762	biolink:NamedThing	diencephalic-mesencephalic junction dysplasia syndrome 2		DOVES_relaxed.owl
MONDO:0009630	biolink:NamedThing	microphthalmia, isolated, with coloboma 4		DOVES_relaxed.owl
MONDO:0011589	biolink:NamedThing	microphthalmia with coloboma 2		DOVES_relaxed.owl
MONDO:0012408	biolink:NamedThing	microphthalmia, isolated, with coloboma 3	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene.	DOVES_relaxed.owl
MONDO:0012709	biolink:NamedThing	microphthalmia, isolated, with coloboma 5	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.	DOVES_relaxed.owl
MONDO:0013376	biolink:NamedThing	microphthalmia, isolated, with coloboma 6		DOVES_relaxed.owl
MONDO:0013783	biolink:NamedThing	microphthalmia, isolated, with coloboma 7	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene.	DOVES_relaxed.owl
MONDO:0014059	biolink:NamedThing	microphthalmia, isolated, with coloboma 9	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene.	DOVES_relaxed.owl
MONDO:0014635	biolink:NamedThing	microphthalmia, isolated, with coloboma 10	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene.	DOVES_relaxed.owl
MONDO:0024549	biolink:NamedThing	microphthalmia with coloboma 1		DOVES_relaxed.owl
MONDO:0800324	biolink:NamedThing	microphthalmia, isolated, with coloboma 8		DOVES_relaxed.owl
MONDO:0013899	biolink:NamedThing	Weill-Marchesani syndrome 3	Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.	DOVES_relaxed.owl
MONDO:0012479	biolink:NamedThing	congenital malabsorptive diarrhea 4	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported.	DOVES_relaxed.owl
MONDO:0015171	biolink:NamedThing	congenital enterocyte heparan sulfate deficiency	Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life.	DOVES_relaxed.owl
MONDO:0009643	biolink:NamedThing	sulfite oxidase deficiency due to molybdenum cofactor deficiency type A		DOVES_relaxed.owl
MONDO:0009644	biolink:NamedThing	sulfite oxidase deficiency due to molybdenum cofactor deficiency type B		DOVES_relaxed.owl
MONDO:0014212	biolink:NamedThing	sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.	DOVES_relaxed.owl
MONDO:0009646	biolink:NamedThing	Monosomy 7 myelodysplasia and leukemia syndrome 1		DOVES_relaxed.owl
MONDO:0030801	biolink:NamedThing	monosomy 7 myelodysplasia and leukemia syndrome 2		DOVES_relaxed.owl
MONDO:0009647	biolink:NamedThing	Morquio syndrome C		DOVES_relaxed.owl
MONDO:0009649	biolink:NamedThing	moyamoya disease 1		DOVES_relaxed.owl
MONDO:0011784	biolink:NamedThing	Moyamoya disease 2	Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene.	DOVES_relaxed.owl
MONDO:0012122	biolink:NamedThing	moyamoya disease 3		DOVES_relaxed.owl
MONDO:0013542	biolink:NamedThing	Moyamoya disease 5	Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene.	DOVES_relaxed.owl
MONDO:0100122	biolink:NamedThing	UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency	An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β.	DOVES_relaxed.owl
MONDO:0031422	biolink:NamedThing	familial mucolipidosis		DOVES_relaxed.owl
MONDO:0019346	biolink:NamedThing	sialidosis type 1	Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.	DOVES_relaxed.owl
MONDO:0100306	biolink:NamedThing	disorder of defective peroxisome oxidative status	Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation.	DOVES_relaxed.owl
MONDO:0013571	biolink:NamedThing	acatalasia	A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.	DOVES_relaxed.owl
MONDO:0030073	biolink:NamedThing	Mitchell syndrome		DOVES_relaxed.owl
MONDO:0017415	biolink:NamedThing	multiple pterygium syndrome		DOVES_relaxed.owl
MONDO:0100158	biolink:NamedThing	CHRNG-associated hypo-akinesia disorder of prenatal onset	A spectrum of presentations resulting from biallelic protein-altering variation in CHRNG. Inactivation of the receptor during early development leads to prenatal hypo-akinesia; subsequent phenotypes are a consequence of this hypo-akinesia and are thought to be dependent upon timing and severity of the anomaly at the neuromuscular junction. A range of phenotypes varying in severity (including both lethal and non-lethal presentations) have been reported, but typically include joint contractures, pterygia, dysmorphic features, vertebral and thoracic anomalies, and additional variable abnormalities. There are no clear genotype-phenotype correlations between the lethal and non-lethal presentations of this spectrum; both inter- and intra-familial variability have been reported, with the same variants being observed in both lethal and non-lethal cases.	DOVES_relaxed.owl
MONDO:0009669	biolink:NamedThing	spinal muscular atrophy, type 1	A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	DOVES_relaxed.owl
MONDO:0009672	biolink:NamedThing	spinal muscular atrophy, type III	Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	DOVES_relaxed.owl
MONDO:0009673	biolink:NamedThing	spinal muscular atrophy, type II	Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	DOVES_relaxed.owl
MONDO:0010056	biolink:NamedThing	spinal muscular atrophy, type IV	Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	DOVES_relaxed.owl
MONDO:0013965	biolink:NamedThing	lethal congenital contracture syndrome 4	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene.	DOVES_relaxed.owl
MONDO:0014549	biolink:NamedThing	lethal congenital contracture syndrome 6	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene.	DOVES_relaxed.owl
MONDO:0014569	biolink:NamedThing	lethal congenital contracture syndrome 7	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.	DOVES_relaxed.owl
MONDO:0014570	biolink:NamedThing	lethal congenital contracture syndrome 8	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene.	DOVES_relaxed.owl
MONDO:0014670	biolink:NamedThing	lethal congenital contracture syndrome 9	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.	DOVES_relaxed.owl
MONDO:0014965	biolink:NamedThing	lethal congenital contracture syndrome 11	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene.	DOVES_relaxed.owl
MONDO:0016152	biolink:NamedThing	qualitative or quantitative defects of calpain		DOVES_relaxed.owl
MONDO:0016145	biolink:NamedThing	qualitative or quantitative defects of dysferlin		DOVES_relaxed.owl
MONDO:0011721	biolink:NamedThing	distal myopathy with anterior tibial onset		DOVES_relaxed.owl
MONDO:0024545	biolink:NamedThing	Miyoshi muscular dystrophy 1	Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene.	DOVES_relaxed.owl
MONDO:0016143	biolink:NamedThing	qualitative or quantitative defects of gamma-sarcoglycan		DOVES_relaxed.owl
MONDO:0013156	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4		DOVES_relaxed.owl
MONDO:0009681	biolink:NamedThing	Ullrich congenital muscular dystrophy 1		DOVES_relaxed.owl
MONDO:0014654	biolink:NamedThing	Ullrich congenital muscular dystrophy 2	Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.	DOVES_relaxed.owl
MONDO:0009714	biolink:NamedThing	myosclerosis	Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.	DOVES_relaxed.owl
MONDO:0024530	biolink:NamedThing	Bethlem myopathy 1		DOVES_relaxed.owl
MONDO:0016153	biolink:NamedThing	qualitative or quantitative defects of TRIM32		DOVES_relaxed.owl
MONDO:0009685	biolink:NamedThing	Miyoshi myopathy	A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.	DOVES_relaxed.owl
MONDO:0018371	biolink:NamedThing	nebulin-related early-onset distal myopathy		DOVES_relaxed.owl
MONDO:0018834	biolink:NamedThing	adenylosuccinate synthetase-like 1-related distal myopathy		DOVES_relaxed.owl
MONDO:0016100	biolink:NamedThing	rippling muscle disease with myasthenia gravis		DOVES_relaxed.owl
MONDO:0014052	biolink:NamedThing	congenital myasthenic syndrome 8	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene.	DOVES_relaxed.owl
MONDO:0014468	biolink:NamedThing	congenital myasthenic syndrome 7	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene.	DOVES_relaxed.owl
MONDO:0014745	biolink:NamedThing	congenital myasthenic syndrome 19	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.	DOVES_relaxed.owl
MONDO:0014939	biolink:NamedThing	congenital myasthenic syndrome 20	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.	DOVES_relaxed.owl
MONDO:0014983	biolink:NamedThing	congenital myasthenic syndrome 21	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.	DOVES_relaxed.owl
MONDO:0009690	biolink:NamedThing	congenital myasthenic syndrome 10	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene.	DOVES_relaxed.owl
MONDO:0011088	biolink:NamedThing	congenital myasthenic syndrome 1A	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene.	DOVES_relaxed.owl
MONDO:0011600	biolink:NamedThing	congenital myasthenic syndrome 4A	A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.	DOVES_relaxed.owl
MONDO:0012157	biolink:NamedThing	congenital myasthenic syndrome 4C	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.	DOVES_relaxed.owl
MONDO:0013620	biolink:NamedThing	congenital myasthenic syndrome 16	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.	DOVES_relaxed.owl
MONDO:0014578	biolink:NamedThing	congenital myasthenic syndrome 17	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.	DOVES_relaxed.owl
MONDO:0014581	biolink:NamedThing	congenital myasthenic syndrome 2A	A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.	DOVES_relaxed.owl
MONDO:0014582	biolink:NamedThing	congenital myasthenic syndrome 2C	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.	DOVES_relaxed.owl
MONDO:0014583	biolink:NamedThing	congenital myasthenic syndrome 3A	A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.	DOVES_relaxed.owl
MONDO:0014584	biolink:NamedThing	congenital myasthenic syndrome 3B	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.	DOVES_relaxed.owl
MONDO:0014585	biolink:NamedThing	congenital myasthenic syndrome 3C	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.	DOVES_relaxed.owl
MONDO:0014586	biolink:NamedThing	congenital myasthenic syndrome 4B	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.	DOVES_relaxed.owl
MONDO:0014587	biolink:NamedThing	congenital myasthenic syndrome 9	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene.	DOVES_relaxed.owl
MONDO:0014588	biolink:NamedThing	congenital myasthenic syndrome 11	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene.	DOVES_relaxed.owl
MONDO:0009691	biolink:NamedThing	mycosis fungoides	Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.	DOVES_relaxed.owl
MONDO:0017844	biolink:NamedThing	Sezary syndrome	Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells).	DOVES_relaxed.owl
MONDO:0045071	biolink:NamedThing	mycosis fungoides variant		DOVES_relaxed.owl
MONDO:0015821	biolink:NamedThing	mycosis fungoides and variants	Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.	DOVES_relaxed.owl
MONDO:0009699	biolink:NamedThing	action myoclonus-renal failure syndrome	Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.	DOVES_relaxed.owl
MONDO:0012904	biolink:NamedThing	epilepsy, progressive myoclonic, 1B	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.	DOVES_relaxed.owl
MONDO:0013526	biolink:NamedThing	progressive myoclonic epilepsy type 6	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene.	DOVES_relaxed.owl
MONDO:0014685	biolink:NamedThing	progressive myoclonic epilepsy type 9	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene.	DOVES_relaxed.owl
MONDO:0014717	biolink:NamedThing	early-onset Lafora body disease	Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.	DOVES_relaxed.owl
MONDO:0030034	biolink:NamedThing	epilepsy, progressive myoclonic, 11		DOVES_relaxed.owl
MONDO:0030936	biolink:NamedThing	epilepsy, progressive myoclonic, 12		DOVES_relaxed.owl
MONDO:0035160	biolink:NamedThing	progressive myoclonic epilepsy with neuroserpin inclusion bodies		DOVES_relaxed.owl
MONDO:0800306	biolink:NamedThing	epilepsy, progressive myoclonic, 2b		DOVES_relaxed.owl
MONDO:0009704	biolink:NamedThing	carnitine palmitoyl transferase II deficiency, myopathic form	The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.	DOVES_relaxed.owl
MONDO:0010914	biolink:NamedThing	carnitine palmitoyl transferase II deficiency, severe infantile form	The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.	DOVES_relaxed.owl
MONDO:0012136	biolink:NamedThing	carnitine palmitoyl transferase II deficiency, neonatal form	The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.	DOVES_relaxed.owl
MONDO:0009708	biolink:NamedThing	myopathy, myosin storage, autosomal recessive		DOVES_relaxed.owl
MONDO:0012018	biolink:NamedThing	myopathy, myosin storage, autosomal dominant		DOVES_relaxed.owl
MONDO:0009709	biolink:NamedThing	myopathy, centronuclear, 2	Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene.	DOVES_relaxed.owl
MONDO:0014418	biolink:NamedThing	myopathy, centronuclear, 5	Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene.	DOVES_relaxed.owl
MONDO:0100468	biolink:NamedThing	Batten-Turner congenital myopathy	A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy.	DOVES_relaxed.owl
MONDO:0011271	biolink:NamedThing	rigid spine muscular dystrophy 1	An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.	DOVES_relaxed.owl
MONDO:0015793	biolink:NamedThing	moderate multiminicore disease with hand involvement		DOVES_relaxed.owl
MONDO:0015794	biolink:NamedThing	antenatal multiminicore disease with arthrogryposis multiplex congenita		DOVES_relaxed.owl
MONDO:0017939	biolink:NamedThing	minicore myopathy		DOVES_relaxed.owl
MONDO:0009719	biolink:NamedThing	familial atrial myxoma		DOVES_relaxed.owl
MONDO:0011190	biolink:NamedThing	nephronophthisis 2	Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene.	DOVES_relaxed.owl
MONDO:0011456	biolink:NamedThing	nephronophthisis 3	Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene.	DOVES_relaxed.owl
MONDO:0011752	biolink:NamedThing	nephronophthisis 4	Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.	DOVES_relaxed.owl
MONDO:0012680	biolink:NamedThing	nephronophthisis 7	Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.	DOVES_relaxed.owl
MONDO:0013163	biolink:NamedThing	nephronophthisis-like nephropathy 1	Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene.	DOVES_relaxed.owl
MONDO:0013302	biolink:NamedThing	nephronophthisis 11	A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.	DOVES_relaxed.owl
MONDO:0013442	biolink:NamedThing	nephronophthisis 12	Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene.	DOVES_relaxed.owl
MONDO:0013444	biolink:NamedThing	nephronophthisis 9	Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene.	DOVES_relaxed.owl
MONDO:0013718	biolink:NamedThing	nephronophthisis 13	A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.	DOVES_relaxed.owl
MONDO:0013916	biolink:NamedThing	nephronophthisis 14	Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene.	DOVES_relaxed.owl
MONDO:0013917	biolink:NamedThing	nephronophthisis 15	Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene.	DOVES_relaxed.owl
MONDO:0014158	biolink:NamedThing	nephronophthisis 16	Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene.	DOVES_relaxed.owl
MONDO:0014374	biolink:NamedThing	nephronophthisis 18	Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene.	DOVES_relaxed.owl
MONDO:0014537	biolink:NamedThing	nephronophthisis 19	Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene.	DOVES_relaxed.owl
MONDO:0014997	biolink:NamedThing	nephronophthisis 20	Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene.	DOVES_relaxed.owl
MONDO:0009732	biolink:NamedThing	congenital nephrotic syndrome, Finnish type	Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.	DOVES_relaxed.owl
MONDO:0009733	biolink:NamedThing	nephrotic syndrome, type 4	Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis.	DOVES_relaxed.owl
MONDO:0013621	biolink:NamedThing	LAMB2-related infantile-onset nephrotic syndrome	LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.	DOVES_relaxed.owl
MONDO:0019006	biolink:NamedThing	familial idiopathic steroid-resistant nephrotic syndrome	Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset.	DOVES_relaxed.owl
MONDO:0026726	biolink:NamedThing	nephrotic syndrome, type 20		DOVES_relaxed.owl
MONDO:0030895	biolink:NamedThing	nephrotic syndrome, type 22		DOVES_relaxed.owl
MONDO:0030962	biolink:NamedThing	nephrotic syndrome, type 23		DOVES_relaxed.owl
MONDO:0031061	biolink:NamedThing	nephrotic syndrome, IIa 26		DOVES_relaxed.owl
MONDO:0032580	biolink:NamedThing	nephrotic syndrome, type 17		DOVES_relaxed.owl
MONDO:0032581	biolink:NamedThing	nephrotic syndrome, type 18		DOVES_relaxed.owl
MONDO:0032582	biolink:NamedThing	nephrotic syndrome, type 19		DOVES_relaxed.owl
MONDO:0032826	biolink:NamedThing	nephrotic syndrome, type 21		DOVES_relaxed.owl
MONDO:0033262	biolink:NamedThing	nephrotic syndrome 15		DOVES_relaxed.owl
MONDO:0033280	biolink:NamedThing	nephrotic syndrome 16		DOVES_relaxed.owl
MONDO:0009734	biolink:NamedThing	hyperinsulinemic hypoglycemia, familial, 1	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene.	DOVES_relaxed.owl
MONDO:0017182	biolink:NamedThing	familial hyperinsulinism	An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome.	DOVES_relaxed.owl
MONDO:0009736	biolink:NamedThing	Neu-Laxova syndrome 1	Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.	DOVES_relaxed.owl
MONDO:0014466	biolink:NamedThing	Neu-Laxova syndrome 2	Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene.	DOVES_relaxed.owl
MONDO:0035930	biolink:NamedThing	neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency		DOVES_relaxed.owl
MONDO:0009744	biolink:NamedThing	neuronal ceroid lipofuscinosis 1	A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.	DOVES_relaxed.owl
MONDO:0800297	biolink:NamedThing	neuronal ceroid lipofuscinosis, late infantile		DOVES_relaxed.owl
MONDO:0850001	biolink:NamedThing	congenital neuronal ceroid lipofuscinosis	Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.	DOVES_relaxed.owl
MONDO:0010044	biolink:NamedThing	hereditary spastic paraplegia 15	Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.	DOVES_relaxed.owl
MONDO:0010046	biolink:NamedThing	hereditary spastic paraplegia 23	Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.	DOVES_relaxed.owl
MONDO:0010049	biolink:NamedThing	spastic paraplegia-glaucoma-intellectual disability syndrome	Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.	DOVES_relaxed.owl
MONDO:0010156	biolink:NamedThing	Troyer syndrome	Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.	DOVES_relaxed.owl
MONDO:0011862	biolink:NamedThing	hereditary spastic paraplegia 24	A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14.	DOVES_relaxed.owl
MONDO:0011992	biolink:NamedThing	hereditary spastic paraplegia 25	Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.	DOVES_relaxed.owl
MONDO:0012181	biolink:NamedThing	hereditary spastic paraplegia 27	A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1.	DOVES_relaxed.owl
MONDO:0012213	biolink:NamedThing	hereditary spastic paraplegia 26	A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.	DOVES_relaxed.owl
MONDO:0012639	biolink:NamedThing	hereditary spastic paraplegia 18	A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.	DOVES_relaxed.owl
MONDO:0012643	biolink:NamedThing	hereditary spastic paraplegia 32	Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.	DOVES_relaxed.owl
MONDO:0012651	biolink:NamedThing	spastic ataxia 2	Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.	DOVES_relaxed.owl
MONDO:0013165	biolink:NamedThing	hereditary spastic paraplegia 45	Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.	DOVES_relaxed.owl
MONDO:0013179	biolink:NamedThing	hereditary spastic paraplegia 44	A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.	DOVES_relaxed.owl
MONDO:0013737	biolink:NamedThing	hereditary spastic paraplegia 46	A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.	DOVES_relaxed.owl
MONDO:0013962	biolink:NamedThing	hereditary spastic paraplegia 53	A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.	DOVES_relaxed.owl
MONDO:0014016	biolink:NamedThing	hereditary spastic paraplegia 49	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene.	DOVES_relaxed.owl
MONDO:0014018	biolink:NamedThing	hereditary spastic paraplegia 54	A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.	DOVES_relaxed.owl
MONDO:0014020	biolink:NamedThing	hereditary spastic paraplegia 55		DOVES_relaxed.owl
MONDO:0014024	biolink:NamedThing	hereditary spastic paraplegia 43	Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.	DOVES_relaxed.owl
MONDO:0014303	biolink:NamedThing	hereditary spastic paraplegia 64	An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.	DOVES_relaxed.owl
MONDO:0014304	biolink:NamedThing	hereditary spastic paraplegia 61	A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.	DOVES_relaxed.owl
MONDO:0014305	biolink:NamedThing	hereditary spastic paraplegia 63	An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.	DOVES_relaxed.owl
MONDO:0014567	biolink:NamedThing	glutamate pyruvate transaminase 2 deficiency		DOVES_relaxed.owl
MONDO:0014729	biolink:NamedThing	hereditary spastic paraplegia 75	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene.	DOVES_relaxed.owl
MONDO:0014827	biolink:NamedThing	autosomal recessive spastic paraplegia type 76	Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.	DOVES_relaxed.owl
MONDO:0014975	biolink:NamedThing	autosomal recessive spastic paraplegia type 78	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene.	DOVES_relaxed.owl
MONDO:0018416	biolink:NamedThing	autosomal recessive spastic paraplegia type 59		DOVES_relaxed.owl
MONDO:0018417	biolink:NamedThing	autosomal recessive spastic paraplegia type 60		DOVES_relaxed.owl
MONDO:0018418	biolink:NamedThing	autosomal recessive spastic paraplegia type 66		DOVES_relaxed.owl
MONDO:0018419	biolink:NamedThing	autosomal recessive spastic paraplegia type 67	Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.	DOVES_relaxed.owl
MONDO:0018420	biolink:NamedThing	autosomal recessive spastic paraplegia type 68		DOVES_relaxed.owl
MONDO:0018421	biolink:NamedThing	autosomal recessive spastic paraplegia type 69		DOVES_relaxed.owl
MONDO:0018422	biolink:NamedThing	autosomal recessive spastic paraplegia type 70	Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.	DOVES_relaxed.owl
MONDO:0044648	biolink:NamedThing	kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome		DOVES_relaxed.owl
MONDO:0009749	biolink:NamedThing	giant axonal neuropathy 1	Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy.	DOVES_relaxed.owl
MONDO:0009754	biolink:NamedThing	neutropenia, lethal congenital, with eosinophilia		DOVES_relaxed.owl
MONDO:0013139	biolink:NamedThing	neutropenia, severe congenital, 2, autosomal dominant	Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene.	DOVES_relaxed.owl
MONDO:0042490	biolink:NamedThing	neutropenia, severe congenital, 1, autosomal dominant		DOVES_relaxed.owl
MONDO:0100464	biolink:NamedThing	acid sphingomyelinase deficiency	An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B.	DOVES_relaxed.owl
MONDO:0009757	biolink:NamedThing	Niemann-Pick disease, type C1	Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.	DOVES_relaxed.owl
MONDO:0018982	biolink:NamedThing	Niemann-Pick disease type C	NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.	DOVES_relaxed.owl
MONDO:0011873	biolink:NamedThing	Niemann-Pick disease, type C2	Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0016306	biolink:NamedThing	Niemann-Pick disease type C, severe perinatal form		DOVES_relaxed.owl
MONDO:0016307	biolink:NamedThing	Niemann-Pick disease type C, severe early infantile neurologic onset		DOVES_relaxed.owl
MONDO:0016308	biolink:NamedThing	Niemann-Pick disease type C, late infantile neurologic onset		DOVES_relaxed.owl
MONDO:0016309	biolink:NamedThing	Niemann-Pick disease type C, juvenile neurologic onset		DOVES_relaxed.owl
MONDO:0016310	biolink:NamedThing	Niemann-Pick disease type C, adult neurologic onset		DOVES_relaxed.owl
MONDO:0009759	biolink:NamedThing	mosaic variegated aneuploidy syndrome 1	Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene.	DOVES_relaxed.owl
MONDO:0013582	biolink:NamedThing	mosaic variegated aneuploidy syndrome 2	Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene.	DOVES_relaxed.owl
MONDO:0054736	biolink:NamedThing	mosaic variegated aneuploidy syndrome 3		DOVES_relaxed.owl
MONDO:0014534	biolink:NamedThing	lissencephaly 6 with microcephaly	Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene.	DOVES_relaxed.owl
MONDO:0009761	biolink:NamedThing	cystic hygroma	A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels.	DOVES_relaxed.owl
MONDO:0018717	biolink:NamedThing	mixed cystic lymphatic malformation		DOVES_relaxed.owl
MONDO:0019328	biolink:NamedThing	macrocystic lymphatic malformation	A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces.	DOVES_relaxed.owl
MONDO:0019329	biolink:NamedThing	microcystic lymphatic malformation		DOVES_relaxed.owl
MONDO:0010805	biolink:NamedThing	bladder exstrophy	Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.	DOVES_relaxed.owl
MONDO:0019759	biolink:NamedThing	epispadias	Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.	DOVES_relaxed.owl
MONDO:0700039	biolink:NamedThing	bladder exstrophy-epispadias-cloacal extrophy complex	An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia.	DOVES_relaxed.owl
MONDO:0009775	biolink:NamedThing	Oguchi disease-1	Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene.	DOVES_relaxed.owl
MONDO:0013259	biolink:NamedThing	Oguchi disease-2	Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene.	DOVES_relaxed.owl
MONDO:0009786	biolink:NamedThing	optic atrophy 6		DOVES_relaxed.owl
MONDO:0014571	biolink:NamedThing	optic atrophy 9		DOVES_relaxed.owl
MONDO:0015011	biolink:NamedThing	optic atrophy 11	Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene.	DOVES_relaxed.owl
MONDO:0020737	biolink:NamedThing	optic atrophy 10 with or without ataxia, intellectual disability, and seizures		DOVES_relaxed.owl
MONDO:0009806	biolink:NamedThing	Bruck syndrome 1	Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene.	DOVES_relaxed.owl
MONDO:0010201	biolink:NamedThing	Winchester syndrome		DOVES_relaxed.owl
MONDO:0017332	biolink:NamedThing	pyoderma gangrenosum-acne-suppurative hidradenitis syndrome		DOVES_relaxed.owl
MONDO:0019266	biolink:NamedThing	SAPHO syndrome	SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis.	DOVES_relaxed.owl
MONDO:0009815	biolink:NamedThing	autosomal recessive osteopetrosis 1	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.	DOVES_relaxed.owl
MONDO:0009816	biolink:NamedThing	autosomal recessive osteopetrosis 2	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.	DOVES_relaxed.owl
MONDO:0009817	biolink:NamedThing	autosomal recessive osteopetrosis 5	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene.	DOVES_relaxed.owl
MONDO:0012676	biolink:NamedThing	autosomal recessive osteopetrosis 4	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene.	DOVES_relaxed.owl
MONDO:0012679	biolink:NamedThing	autosomal recessive osteopetrosis 6	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.	DOVES_relaxed.owl
MONDO:0014040	biolink:NamedThing	autosomal recessive osteopetrosis 8	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.	DOVES_relaxed.owl
MONDO:0009823	biolink:NamedThing	primary hyperoxaluria type 1	A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.	DOVES_relaxed.owl
MONDO:0009824	biolink:NamedThing	primary hyperoxaluria type 2	Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.	DOVES_relaxed.owl
MONDO:0013327	biolink:NamedThing	primary hyperoxaluria type 3	Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.	DOVES_relaxed.owl
MONDO:0100278	biolink:NamedThing	alanine glyoxylate aminotransferase deficiency	Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.	DOVES_relaxed.owl
MONDO:0019386	biolink:NamedThing	progressive rubella panencephalitis	A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age.	DOVES_relaxed.owl
MONDO:0009839	biolink:NamedThing	progressive supranuclear palsy-parkinsonism syndrome	PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.	DOVES_relaxed.owl
MONDO:0020488	biolink:NamedThing	atypical progressive supranuclear palsy syndrome	Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA).	DOVES_relaxed.owl
MONDO:0016562	biolink:NamedThing	progressive supranuclear palsy-pure akinesia with gait freezing syndrome	PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.	DOVES_relaxed.owl
MONDO:0016563	biolink:NamedThing	progressive supranuclear palsy-corticobasal syndrome	PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.	DOVES_relaxed.owl
MONDO:0016564	biolink:NamedThing	progressive supranuclear palsy-progressive non-fluent aphasia syndrome	PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.	DOVES_relaxed.owl
MONDO:0009843	biolink:NamedThing	hypomyelinating leukodystrophy 3	Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene.	DOVES_relaxed.owl
MONDO:0012125	biolink:NamedThing	hypomyelinating leukodystrophy 2	Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.	DOVES_relaxed.owl
MONDO:0012824	biolink:NamedThing	hypomyelinating leukodystrophy 4	Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.	DOVES_relaxed.owl
MONDO:0009846	biolink:NamedThing	pentosuria	Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.	DOVES_relaxed.owl
MONDO:0019231	biolink:NamedThing	inborn disorder of pentose phosphate metabolism		DOVES_relaxed.owl
MONDO:0011624	biolink:NamedThing	transaldolase deficiency	Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.	DOVES_relaxed.owl
MONDO:0014969	biolink:NamedThing	isolated sedoheptulokinase deficiency		DOVES_relaxed.owl
MONDO:0009855	biolink:NamedThing	d-bifunctional protein deficiency	A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease.	DOVES_relaxed.owl
MONDO:0019233	biolink:NamedThing	disorder of peroxisomal beta oxidation		DOVES_relaxed.owl
MONDO:0009919	biolink:NamedThing	peroxisomal acyl-CoA oxidase deficiency	Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.	DOVES_relaxed.owl
MONDO:0100112	biolink:NamedThing	acyl-CoA binding domain containing protein 5 deficiency	A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay.	DOVES_relaxed.owl
MONDO:0045014	biolink:NamedThing	tetrahydrobiopterin metabolic process disease	A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process.	DOVES_relaxed.owl
MONDO:0009862	biolink:NamedThing	dihydropteridine reductase deficiency	Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.	DOVES_relaxed.owl
MONDO:0009863	biolink:NamedThing	BH4-deficient hyperphenylalaninemia A	An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.	DOVES_relaxed.owl
MONDO:0009908	biolink:NamedThing	pterin-4 alpha-carbinolamine dehydratase 1 deficiency	Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0009864	biolink:NamedThing	phosphoenolpyruvate carboxykinase deficiency, mitochondrial		DOVES_relaxed.owl
MONDO:0009866	biolink:NamedThing	phosphoenolpyruvate carboxykinase deficiency, cytosolic	PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).	DOVES_relaxed.owl
MONDO:0010038	biolink:NamedThing	growth delay due to insulin-like growth factor I resistance	Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).	DOVES_relaxed.owl
MONDO:0011420	biolink:NamedThing	short stature due to partial GHR deficiency	Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.	DOVES_relaxed.owl
MONDO:0012110	biolink:NamedThing	growth delay due to insulin-like growth factor type 1 deficiency	Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.	DOVES_relaxed.owl
MONDO:0014420	biolink:NamedThing	short stature due to primary acid-labile subunit deficiency	Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.	DOVES_relaxed.owl
MONDO:0009878	biolink:NamedThing	pituitary hormone deficiency, combined, 2	Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene.	DOVES_relaxed.owl
MONDO:0010712	biolink:NamedThing	panhypopituitarism, X-linked		DOVES_relaxed.owl
MONDO:0009890	biolink:NamedThing	Gillessen-Kaesbach-Nishimura syndrome		DOVES_relaxed.owl
MONDO:0016598	biolink:NamedThing	autosomal recessive secondary polycythemia not associated with VHL gene		DOVES_relaxed.owl
MONDO:0017695	biolink:NamedThing	glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form		DOVES_relaxed.owl
MONDO:0017696	biolink:NamedThing	glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form		DOVES_relaxed.owl
MONDO:0017697	biolink:NamedThing	glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form		DOVES_relaxed.owl
MONDO:0017698	biolink:NamedThing	glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form		DOVES_relaxed.owl
MONDO:0017699	biolink:NamedThing	glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form		DOVES_relaxed.owl
MONDO:0017700	biolink:NamedThing	glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form		DOVES_relaxed.owl
MONDO:0017701	biolink:NamedThing	glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form		DOVES_relaxed.owl
MONDO:0009906	biolink:NamedThing	prenatal bowing		DOVES_relaxed.owl
MONDO:0009915	biolink:NamedThing	46,XX disorder of sex development-skeletal anomalies syndrome		DOVES_relaxed.owl
MONDO:0020039	biolink:NamedThing	46,XX disorder of sex development induced by androgens excess		DOVES_relaxed.owl
MONDO:0043131	biolink:NamedThing	michels caskey syndrome		DOVES_relaxed.owl
MONDO:0800381	biolink:NamedThing	46,XX true hermaphroditism, SRY-positive		DOVES_relaxed.owl
MONDO:0009918	biolink:NamedThing	fundus dystrophy, pseudoinflammatory, recessive form		DOVES_relaxed.owl
MONDO:0009924	biolink:NamedThing	vitamin D-dependent rickets, type 1	Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.	DOVES_relaxed.owl
MONDO:0019642	biolink:NamedThing	vitamin D-dependent rickets, type 2	Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.	DOVES_relaxed.owl
MONDO:0012580	biolink:NamedThing	hereditary pulmonary alveolar proteinosis	Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.	DOVES_relaxed.owl
MONDO:0010424	biolink:NamedThing	surfactant metabolism dysfunction, pulmonary, 4		DOVES_relaxed.owl
MONDO:0012582	biolink:NamedThing	interstitial lung disease due to ABCA3 deficiency	Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.	DOVES_relaxed.owl
MONDO:0013712	biolink:NamedThing	surfactant metabolism dysfunction, pulmonary, 5	Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene.	DOVES_relaxed.owl
MONDO:0024465	biolink:NamedThing	surfactant metabolism dysfunction, pulmonary, 2		DOVES_relaxed.owl
MONDO:0017865	biolink:NamedThing	congenital pulmonary valve stenosis	Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS).	DOVES_relaxed.owl
MONDO:0020007	biolink:NamedThing	absence of the pulmonary artery	Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age.	DOVES_relaxed.owl
MONDO:0020419	biolink:NamedThing	pulmonary artery hypoplasia		DOVES_relaxed.owl
MONDO:0020420	biolink:NamedThing	pulmonary branch stenosis	Narrowing of the lumen of the right or left pulmonary artery branch.	DOVES_relaxed.owl
MONDO:0009934	biolink:NamedThing	alveolar capillary dysplasia with misalignment of pulmonary veins	A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.	DOVES_relaxed.owl
MONDO:0012757	biolink:NamedThing	lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome	Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.	DOVES_relaxed.owl
MONDO:0017019	biolink:NamedThing	interstitial lung disease specific to infancy		DOVES_relaxed.owl
MONDO:0700081	biolink:NamedThing	newborn respiratory distress syndrome	A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange.	DOVES_relaxed.owl
MONDO:0100077	biolink:NamedThing	congenital alveolar dysplasia	A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis.	DOVES_relaxed.owl
MONDO:0600014	biolink:NamedThing	alveolar capillary dysplasia without misalignment of pulmonary veins	A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins.	DOVES_relaxed.owl
MONDO:0009935	biolink:NamedThing	pulmonary hypertension, primary, autosomal recessive		DOVES_relaxed.owl
MONDO:0017147	biolink:NamedThing	idiopathic pulmonary arterial hypertension	Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.	DOVES_relaxed.owl
MONDO:0017866	biolink:NamedThing	subpulmonary stenosis		DOVES_relaxed.owl
MONDO:0017870	biolink:NamedThing	supravalvular pulmonary stenosis		DOVES_relaxed.owl
MONDO:0020395	biolink:NamedThing	valvar pulmonary stenosis	A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow).	DOVES_relaxed.owl
MONDO:0021745	biolink:NamedThing	psychosocial short stature	A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress.	DOVES_relaxed.owl
MONDO:0022151	biolink:NamedThing	Chitty Hall Webb syndrome		DOVES_relaxed.owl
MONDO:0017554	biolink:NamedThing	radio-ulnar synostosis, unilateral		DOVES_relaxed.owl
MONDO:0017555	biolink:NamedThing	radio-ulnar synostosis, bilateral		DOVES_relaxed.owl
MONDO:0100258	biolink:NamedThing	phytanoyl-CoA hydroxylase deficiency	Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.	DOVES_relaxed.owl
MONDO:0009959	biolink:NamedThing	peroxisome biogenesis disorder type 3B	A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.	DOVES_relaxed.owl
MONDO:0100266	biolink:NamedThing	peroxisome biogenesis disorder due to PEX12 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene.	DOVES_relaxed.owl
MONDO:0013927	biolink:NamedThing	peroxisome biogenesis disorder 3A (Zellweger)		DOVES_relaxed.owl
MONDO:0800364	biolink:NamedThing	peroxisome biogenesis disorder, complementation group 3		DOVES_relaxed.owl
MONDO:0009962	biolink:NamedThing	Senior-Loken syndrome 1	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene.	DOVES_relaxed.owl
MONDO:0011755	biolink:NamedThing	senior-loken syndrome 3		DOVES_relaxed.owl
MONDO:0011756	biolink:NamedThing	Senior-Loken syndrome 4	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene.	DOVES_relaxed.owl
MONDO:0012225	biolink:NamedThing	Senior-Loken syndrome 5	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene.	DOVES_relaxed.owl
MONDO:0012433	biolink:NamedThing	Senior-Loken syndrome 6	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene.	DOVES_relaxed.owl
MONDO:0013326	biolink:NamedThing	Senior-Loken syndrome 7	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.	DOVES_relaxed.owl
MONDO:0014579	biolink:NamedThing	Senior-Loken syndrome 8	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.	DOVES_relaxed.owl
MONDO:0014712	biolink:NamedThing	Senior-Loken syndrome 9	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene.	DOVES_relaxed.owl
MONDO:0009968	biolink:NamedThing	renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss		DOVES_relaxed.owl
MONDO:0019984	biolink:NamedThing	renal tubular dysgenesis due to twin-twin transfusion	An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).	DOVES_relaxed.owl
MONDO:0019985	biolink:NamedThing	drug-related renal tubular dysgenesis		DOVES_relaxed.owl
MONDO:0009971	biolink:NamedThing	respiratory distress syndrome in premature infants	Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.	DOVES_relaxed.owl
MONDO:0009979	biolink:NamedThing	reticular dystrophy of the retinal pigment epithelium	Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.	DOVES_relaxed.owl
MONDO:0020382	biolink:NamedThing	multifocal pattern dystrophy simulating fundus flavimaculatus	Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.	DOVES_relaxed.owl
MONDO:0020383	biolink:NamedThing	fundus pulverulentus	Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.	DOVES_relaxed.owl
MONDO:0100466	biolink:NamedThing	butterfly-shaped pigment dystrophy	A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.	DOVES_relaxed.owl
MONDO:0009997	biolink:NamedThing	Roberts syndrome	Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.	DOVES_relaxed.owl
MONDO:0100282	biolink:NamedThing	SC phocomelia syndrome		DOVES_relaxed.owl
MONDO:0010099	biolink:NamedThing	Tay-Sachs disease AB variant	GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.	DOVES_relaxed.owl
MONDO:0100477	biolink:NamedThing	disorder of methylamine metabolism	An inherited metabolic disease that has its basis in the disruption of methylamine metabolic process.	DOVES_relaxed.owl
MONDO:0011610	biolink:NamedThing	dimethylglycine dehydrogenase deficiency	An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder.	DOVES_relaxed.owl
MONDO:0017410	biolink:NamedThing	porencephaly	Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly.	DOVES_relaxed.owl
MONDO:0017744	biolink:NamedThing	disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis		DOVES_relaxed.owl
MONDO:0010020	biolink:NamedThing	congenital generalized lipodystrophy type 2	Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.	DOVES_relaxed.owl
MONDO:0012071	biolink:NamedThing	congenital generalized lipodystrophy type 1	Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.	DOVES_relaxed.owl
MONDO:0012923	biolink:NamedThing	congenital generalized lipodystrophy type 3	Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.	DOVES_relaxed.owl
MONDO:0019366	biolink:NamedThing	free sialic acid storage disease	Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).	DOVES_relaxed.owl
MONDO:0010028	biolink:NamedThing	sialuria	Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.	DOVES_relaxed.owl
MONDO:0010033	biolink:NamedThing	generalized peeling skin syndrome	Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.	DOVES_relaxed.owl
MONDO:0019347	biolink:NamedThing	peeling skin syndrome	Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.	DOVES_relaxed.owl
MONDO:0012345	biolink:NamedThing	acral peeling skin syndrome	Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.	DOVES_relaxed.owl
MONDO:0054852	biolink:NamedThing	peeling skin syndrome 6		DOVES_relaxed.owl
MONDO:0011816	biolink:NamedThing	lathosterolosis	Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.	DOVES_relaxed.owl
MONDO:0010041	biolink:NamedThing	Charlevoix-Saguenay spastic ataxia	Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.	DOVES_relaxed.owl
MONDO:0011950	biolink:NamedThing	infantile-onset autosomal recessive nonprogressive cerebellar ataxia		DOVES_relaxed.owl
MONDO:0012235	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 7	Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0012549	biolink:NamedThing	autosomal recessive ataxia, Beauce type	A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.	DOVES_relaxed.owl
MONDO:0012764	biolink:NamedThing	RIDDLE syndrome	An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.	DOVES_relaxed.owl
MONDO:0012784	biolink:NamedThing	autosomal recessive ataxia due to ubiquinone deficiency	This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.	DOVES_relaxed.owl
MONDO:0013392	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 10	Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene.	DOVES_relaxed.owl
MONDO:0014084	biolink:NamedThing	ataxia with oculomotor apraxia type 3		DOVES_relaxed.owl
MONDO:0014159	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 14	Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).	DOVES_relaxed.owl
MONDO:0014339	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 16	Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene.	DOVES_relaxed.owl
MONDO:0014572	biolink:NamedThing	Lichtenstein-Knorr syndrome		DOVES_relaxed.owl
MONDO:0014845	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive 22	Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene.	DOVES_relaxed.owl
MONDO:0020047	biolink:NamedThing	autosomal recessive syndromic cerebellar ataxia		DOVES_relaxed.owl
MONDO:0030312	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive 29		DOVES_relaxed.owl
MONDO:0030318	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive 30		DOVES_relaxed.owl
MONDO:0030323	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive 31		DOVES_relaxed.owl
MONDO:0032706	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive 27		DOVES_relaxed.owl
MONDO:0032923	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive 28		DOVES_relaxed.owl
MONDO:0033115	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive 25		DOVES_relaxed.owl
MONDO:0033116	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive 26		DOVES_relaxed.owl
MONDO:0034146	biolink:NamedThing	spastic ataxia-dysarthria due to glutaminase deficiency		DOVES_relaxed.owl
MONDO:0010061	biolink:NamedThing	autosomal recessive cerebellar ataxia-blindness-deafness syndrome		DOVES_relaxed.owl
MONDO:0011811	biolink:NamedThing	autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.	DOVES_relaxed.owl
MONDO:0013645	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 11	Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene.	DOVES_relaxed.owl
MONDO:0016159	biolink:NamedThing	Gemignani syndrome		DOVES_relaxed.owl
MONDO:0010065	biolink:NamedThing	spinocerebellar degeneration with slow eye movements		DOVES_relaxed.owl
MONDO:0010070	biolink:NamedThing	brachyolmia type 1, Hobaek type		DOVES_relaxed.owl
MONDO:0010074	biolink:NamedThing	brachyolmia type 1, toledo type		DOVES_relaxed.owl
MONDO:0012368	biolink:NamedThing	aminoacylase 1 deficiency	Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.	DOVES_relaxed.owl
MONDO:0016394	biolink:NamedThing	sporadic infantile bilateral striatal necrosis	Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.	DOVES_relaxed.owl
MONDO:0020392	biolink:NamedThing	discrete fixed membranous subaortic stenosis		DOVES_relaxed.owl
MONDO:0010085	biolink:NamedThing	Schilder disease	Schilder's disease is a progressive demyelinating disorder of the central nervous system.	DOVES_relaxed.owl
MONDO:0018784	biolink:NamedThing	pediatric multiple sclerosis	Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.	DOVES_relaxed.owl
MONDO:0019383	biolink:NamedThing	acute disseminated encephalomyelitis	Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system.	DOVES_relaxed.owl
MONDO:0010089	biolink:NamedThing	isolated sulfite oxidase deficiency		DOVES_relaxed.owl
MONDO:0010091	biolink:NamedThing	Cold-induced sweating syndrome 1	Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.	DOVES_relaxed.owl
MONDO:0015526	biolink:NamedThing	cold-induced sweating syndrome	Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.	DOVES_relaxed.owl
MONDO:0012467	biolink:NamedThing	cold-induced sweating syndrome 2	Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene.	DOVES_relaxed.owl
MONDO:0014890	biolink:NamedThing	PERCHING syndrome	Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene.	DOVES_relaxed.owl
MONDO:0019740	biolink:NamedThing	acquired thrombotic thrombocytopenic purpura	Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.	DOVES_relaxed.owl
MONDO:0016409	biolink:NamedThing	primary congenital hypothyroidism	Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.	DOVES_relaxed.owl
MONDO:0010133	biolink:NamedThing	thyroid dyshormonogenesis 2A	Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.	DOVES_relaxed.owl
MONDO:0010135	biolink:NamedThing	thyroid dyshormonogenesis 3	Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene.	DOVES_relaxed.owl
MONDO:0010136	biolink:NamedThing	thyroid dyshormonogenesis 4	Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene.	DOVES_relaxed.owl
MONDO:0010137	biolink:NamedThing	thyroid dyshormonogenesis 5	Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.	DOVES_relaxed.owl
MONDO:0011792	biolink:NamedThing	thyroid dyshormonogenesis 6	Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.	DOVES_relaxed.owl
MONDO:0020716	biolink:NamedThing	familial thyroid dyshormonogenesis 1		DOVES_relaxed.owl
MONDO:0033925	biolink:NamedThing	pediatric-onset Graves disease		DOVES_relaxed.owl
MONDO:0016410	biolink:NamedThing	central congenital hypothyroidism	Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.	DOVES_relaxed.owl
MONDO:0010140	biolink:NamedThing	isolated thyrotropin-releasing hormone deficiency	Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone.	DOVES_relaxed.owl
MONDO:0016411	biolink:NamedThing	hypothyroidism due to deficient transcription factors involved in pituitary development or function	Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.	DOVES_relaxed.owl
MONDO:0010144	biolink:NamedThing	tibial hemimelia	Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.	DOVES_relaxed.owl
MONDO:0019670	biolink:NamedThing	ulnar hemimelia	Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone.	DOVES_relaxed.owl
MONDO:0019671	biolink:NamedThing	radial hemimelia	Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.	DOVES_relaxed.owl
MONDO:0019672	biolink:NamedThing	fibular hemimelia	Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.	DOVES_relaxed.owl
MONDO:0850030	biolink:NamedThing	complete hemimelia		DOVES_relaxed.owl
MONDO:0012545	biolink:NamedThing	neutral lipid storage myopathy		DOVES_relaxed.owl
MONDO:0035423	biolink:NamedThing	triglyceride deposit cardiomyovasculopathy		DOVES_relaxed.owl
MONDO:0030840	biolink:NamedThing	mismatch repair cancer syndrome 2		DOVES_relaxed.owl
MONDO:0030841	biolink:NamedThing	mismatch repair cancer syndrome 3		DOVES_relaxed.owl
MONDO:0030843	biolink:NamedThing	mismatch repair cancer syndrome 4		DOVES_relaxed.owl
MONDO:0010162	biolink:NamedThing	tyrosinemia type III	Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.	DOVES_relaxed.owl
MONDO:0018083	biolink:NamedThing	transient tyrosinemia of the newborn	A benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.	DOVES_relaxed.owl
MONDO:0010168	biolink:NamedThing	Usher syndrome type 1	A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.	DOVES_relaxed.owl
MONDO:0010775	biolink:NamedThing	retinitis pigmentosa-deafness syndrome	An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome.	DOVES_relaxed.owl
MONDO:0016484	biolink:NamedThing	Usher syndrome type 2	A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.	DOVES_relaxed.owl
MONDO:0016485	biolink:NamedThing	Usher syndrome type 3	A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life.	DOVES_relaxed.owl
MONDO:0029141	biolink:NamedThing	Usher syndrome, type 4		DOVES_relaxed.owl
MONDO:0010169	biolink:NamedThing	Usher syndrome type 2A	Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene.	DOVES_relaxed.owl
MONDO:0011558	biolink:NamedThing	Usher syndrome type 2C	A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0012662	biolink:NamedThing	Usher syndrome type 2D	Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene.	DOVES_relaxed.owl
MONDO:0010170	biolink:NamedThing	Usher syndrome type 3A	Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene.	DOVES_relaxed.owl
MONDO:0013788	biolink:NamedThing	Usher syndrome type 3B	Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene.	DOVES_relaxed.owl
MONDO:0010171	biolink:NamedThing	Usher syndrome type 1C	A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0010984	biolink:NamedThing	Usher syndrome type 1D	A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0011186	biolink:NamedThing	Usher syndrome type 1F	A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0011195	biolink:NamedThing	Usher syndrome type 1E	A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0011748	biolink:NamedThing	Usher syndrome type 1G	Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene.	DOVES_relaxed.owl
MONDO:0012968	biolink:NamedThing	Usher syndrome type 1H	An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23.	DOVES_relaxed.owl
MONDO:0013935	biolink:NamedThing	Usher syndrome type 1J	Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene.	DOVES_relaxed.owl
MONDO:0014001	biolink:NamedThing	Usher syndrome type 1K	An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1.	DOVES_relaxed.owl
MONDO:0100050	biolink:NamedThing	Usher syndrome, type 1D/F	Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes.	DOVES_relaxed.owl
MONDO:0700087	biolink:NamedThing	Usher syndrome type 1B	Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene	DOVES_relaxed.owl
MONDO:0010173	biolink:NamedThing	Mayer-Rokitansky-Kuster-Hauser syndrome type 1	Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.	DOVES_relaxed.owl
MONDO:0010178	biolink:NamedThing	congenital bilateral aplasia of vas deferens from CFTR mutation	An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis.	DOVES_relaxed.owl
MONDO:0010511	biolink:NamedThing	vas deferens, congenital bilateral aplasia of, X-linked		DOVES_relaxed.owl
MONDO:0800311	biolink:NamedThing	vas deferens, congenital unilateral aplasia of		DOVES_relaxed.owl
MONDO:0010182	biolink:NamedThing	hypercarotenemia and vitamin A deficiency, autosomal recessive		DOVES_relaxed.owl
MONDO:0010183	biolink:NamedThing	methylmalonic aciduria and homocystinuria type cblF	A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0010185	biolink:NamedThing	methylmalonic aciduria and homocystinuria type cblD	A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.	DOVES_relaxed.owl
MONDO:0013925	biolink:NamedThing	methylmalonic acidemia with homocystinuria, type cblJ		DOVES_relaxed.owl
MONDO:0010190	biolink:NamedThing	pontocerebellar hypoplasia type 2A		DOVES_relaxed.owl
MONDO:0012890	biolink:NamedThing	pontocerebellar hypoplasia type 2B	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.	DOVES_relaxed.owl
MONDO:0012891	biolink:NamedThing	pontocerebellar hypoplasia type 2C	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.	DOVES_relaxed.owl
MONDO:0013438	biolink:NamedThing	pontocerebellar hypoplasia type 2D	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene.	DOVES_relaxed.owl
MONDO:0014874	biolink:NamedThing	pontocerebellar hypoplasia, type 2F	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.	DOVES_relaxed.owl
MONDO:0010192	biolink:NamedThing	Waardenburg syndrome type 4A	A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB.	DOVES_relaxed.owl
MONDO:0013201	biolink:NamedThing	Waardenburg syndrome type 4B	A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3.	DOVES_relaxed.owl
MONDO:0013202	biolink:NamedThing	Waardenburg syndrome type 4C	A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10.	DOVES_relaxed.owl
MONDO:0010194	biolink:NamedThing	Weill-Marchesani syndrome 1	Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.	DOVES_relaxed.owl
MONDO:0012013	biolink:NamedThing	Weill-Marchesani syndrome 2, dominant	A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.	DOVES_relaxed.owl
MONDO:0010197	biolink:NamedThing	whistling face syndrome, recessive form		DOVES_relaxed.owl
MONDO:0010205	biolink:NamedThing	Wolman disease with hypolipoproteinemia and acanthocytosis		DOVES_relaxed.owl
MONDO:0019148	biolink:NamedThing	Wolman disease	Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.	DOVES_relaxed.owl
MONDO:0014765	biolink:NamedThing	woolly hair, autosomal recessive 3	Any woolly hair in which the cause of the disease is a mutation in the KRT25 gene.	DOVES_relaxed.owl
MONDO:0020717	biolink:NamedThing	autosomal dominant woolly hair		DOVES_relaxed.owl
MONDO:0800312	biolink:NamedThing	woolly hair, autosomal recessive 1, with or without hypotrichosis		DOVES_relaxed.owl
MONDO:0010208	biolink:NamedThing	wrinkly skin syndrome	A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).	DOVES_relaxed.owl
MONDO:0010209	biolink:NamedThing	xanthinuria type I	A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.	DOVES_relaxed.owl
MONDO:0011346	biolink:NamedThing	xanthinuria type II	Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.	DOVES_relaxed.owl
MONDO:0800313	biolink:NamedThing	xeroderma pigmentosum, type F/cockayne syndrome		DOVES_relaxed.owl
MONDO:0800314	biolink:NamedThing	xeroderma pigmentosum, type G/cockayne syndrome		DOVES_relaxed.owl
MONDO:0010218	biolink:NamedThing	46,XX sex reversal 2		DOVES_relaxed.owl
MONDO:0010442	biolink:NamedThing	46,XX sex reversal 3		DOVES_relaxed.owl
MONDO:0060489	biolink:NamedThing	46,XX sex reversal 4		DOVES_relaxed.owl
MONDO:0100250	biolink:NamedThing	46,XX sex reversal 1		DOVES_relaxed.owl
MONDO:0010420	biolink:NamedThing	X-linked erythropoietic protoporphyria	X-linked form of erythropoietic protoporphyria.	DOVES_relaxed.owl
MONDO:0010491	biolink:NamedThing	X-linked acrogigantism due to Xq26 microduplication		DOVES_relaxed.owl
MONDO:0010583	biolink:NamedThing	Dyggve-Melchior-Clausen syndrome, X-linked	X-linked form of Dyggve-Melchior-Clausen disease.	DOVES_relaxed.owl
MONDO:0010584	biolink:NamedThing	dyskeratosis congenita, X-linked	X-linked form of dyskeratosis congenita.	DOVES_relaxed.owl
MONDO:0010585	biolink:NamedThing	X-linked hypohidrotic ectodermal dysplasia	An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.	DOVES_relaxed.owl
MONDO:0010587	biolink:NamedThing	epidermodysplasia verruciformis, X-linked	X-linked form of epidermodysplasia verruciformis.	DOVES_relaxed.owl
MONDO:0010626	biolink:NamedThing	hyper-IgM syndrome type 1	The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.	DOVES_relaxed.owl
MONDO:0010716	biolink:NamedThing	X-linked lethal multiple pterygium syndrome	X-linked form of lethal multiple pterygium syndrome.	DOVES_relaxed.owl
MONDO:0017269	biolink:NamedThing	X-linked ichthyosis syndrome	X-linked form of inherited ichthyosis syndromic form.	DOVES_relaxed.owl
MONDO:0018451	biolink:NamedThing	X-linked distal hereditary motor neuropathy	X-linked form of distal hereditary motor neuropathy.	DOVES_relaxed.owl
MONDO:0020604	biolink:NamedThing	X-linked dominant disease	X-linked dominant form of disease.	DOVES_relaxed.owl
MONDO:0010223	biolink:NamedThing	ichthyosis, X-linked, without steroid sulfatase deficiency		DOVES_relaxed.owl
MONDO:0010224	biolink:NamedThing	corpus callosum agenesis-abnormal genitalia syndrome	Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed.	DOVES_relaxed.owl
MONDO:0010225	biolink:NamedThing	Dent disease type 1	Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.	DOVES_relaxed.owl
MONDO:0010359	biolink:NamedThing	Dent disease type 2	Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.	DOVES_relaxed.owl
MONDO:0010566	biolink:NamedThing	X-linked cone-rod dystrophy 1		DOVES_relaxed.owl
MONDO:0022399	biolink:NamedThing	retinal ciliopathy due to mutation in the RPGR gene		DOVES_relaxed.owl
MONDO:0010228	biolink:NamedThing	hearing loss, X-linked 3		DOVES_relaxed.owl
MONDO:0019586	biolink:NamedThing	X-linked nonsyndromic hearing loss	X-linked form of nonsyndromic deafness.	DOVES_relaxed.owl
MONDO:0010238	biolink:NamedThing	hearing loss, X-linked 4	Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene.	DOVES_relaxed.owl
MONDO:0010484	biolink:NamedThing	hearing loss, X-linked 6	Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene.	DOVES_relaxed.owl
MONDO:0010577	biolink:NamedThing	hearing loss, X-linked 1		DOVES_relaxed.owl
MONDO:0010230	biolink:NamedThing	intellectual disability, X-linked 23		DOVES_relaxed.owl
MONDO:0019181	biolink:NamedThing	non-syndromic X-linked intellectual disability	Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX.	DOVES_relaxed.owl
MONDO:0010231	biolink:NamedThing	intellectual disability, X-linked 20		DOVES_relaxed.owl
MONDO:0010236	biolink:NamedThing	intellectual disability, X-linked 14		DOVES_relaxed.owl
MONDO:0010250	biolink:NamedThing	intellectual disability, X-linked 49		DOVES_relaxed.owl
MONDO:0010251	biolink:NamedThing	intellectual disability, X-linked 50		DOVES_relaxed.owl
MONDO:0010256	biolink:NamedThing	intellectual disability, X-linked 21	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene.	DOVES_relaxed.owl
MONDO:0010266	biolink:NamedThing	intellectual disability, X-linked 58	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene.	DOVES_relaxed.owl
MONDO:0010289	biolink:NamedThing	intellectual disability, X-linked 72		DOVES_relaxed.owl
MONDO:0010300	biolink:NamedThing	intellectual disability, X-linked 53		DOVES_relaxed.owl
MONDO:0010307	biolink:NamedThing	intellectual disability, X-linked 73		DOVES_relaxed.owl
MONDO:0010309	biolink:NamedThing	intellectual disability, X-linked 42		DOVES_relaxed.owl
MONDO:0010313	biolink:NamedThing	intellectual disability, X-linked 63	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene.	DOVES_relaxed.owl
MONDO:0010317	biolink:NamedThing	intellectual disability, X-linked, with or without seizures, arx-related		DOVES_relaxed.owl
MONDO:0010322	biolink:NamedThing	intellectual disability, X-linked 2		DOVES_relaxed.owl
MONDO:0010324	biolink:NamedThing	intellectual disability, X-linked 81		DOVES_relaxed.owl
MONDO:0010326	biolink:NamedThing	intellectual disability, X-linked 46	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene.	DOVES_relaxed.owl
MONDO:0010329	biolink:NamedThing	intellectual disability, X-linked 77		DOVES_relaxed.owl
MONDO:0010344	biolink:NamedThing	intellectual disability, X-linked 45	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene.	DOVES_relaxed.owl
MONDO:0010347	biolink:NamedThing	intellectual disability, X-linked 84		DOVES_relaxed.owl
MONDO:0010352	biolink:NamedThing	intellectual disability, X-linked 82		DOVES_relaxed.owl
MONDO:0010361	biolink:NamedThing	intellectual disability, X-linked 30	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene.	DOVES_relaxed.owl
MONDO:0010363	biolink:NamedThing	intellectual disability, X-linked 91	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene.	DOVES_relaxed.owl
MONDO:0010393	biolink:NamedThing	intellectual disability, X-linked 93	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene.	DOVES_relaxed.owl
MONDO:0010406	biolink:NamedThing	chromosome Xp11.22 duplication syndrome		DOVES_relaxed.owl
MONDO:0010413	biolink:NamedThing	intellectual disability, X-linked 95		DOVES_relaxed.owl
MONDO:0010429	biolink:NamedThing	intellectual disability, X-linked 96	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene.	DOVES_relaxed.owl
MONDO:0010430	biolink:NamedThing	intellectual disability, X-linked 97	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene.	DOVES_relaxed.owl
MONDO:0010447	biolink:NamedThing	intellectual disability, X-linked 19	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene.	DOVES_relaxed.owl
MONDO:0010450	biolink:NamedThing	intellectual disability, X-linked 89		DOVES_relaxed.owl
MONDO:0010451	biolink:NamedThing	intellectual disability, X-linked 41	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene.	DOVES_relaxed.owl
MONDO:0010452	biolink:NamedThing	intellectual disability, X-linked 90	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene.	DOVES_relaxed.owl
MONDO:0010453	biolink:NamedThing	intellectual disability, X-linked 92		DOVES_relaxed.owl
MONDO:0010454	biolink:NamedThing	intellectual disability, X-linked 88		DOVES_relaxed.owl
MONDO:0010487	biolink:NamedThing	intellectual disability, X-linked 99	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene.	DOVES_relaxed.owl
MONDO:0010488	biolink:NamedThing	intellectual disability, X-linked 100	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene.	DOVES_relaxed.owl
MONDO:0010489	biolink:NamedThing	intellectual disability, X-linked 101	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene.	DOVES_relaxed.owl
MONDO:0010497	biolink:NamedThing	intellectual disability, X-linked 102	An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.	DOVES_relaxed.owl
MONDO:0010506	biolink:NamedThing	intellectual disability, X-linked 61	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene.	DOVES_relaxed.owl
MONDO:0010508	biolink:NamedThing	intellectual disability, X-linked 103	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene.	DOVES_relaxed.owl
MONDO:0010509	biolink:NamedThing	intellectual disability, X-linked 104	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene.	DOVES_relaxed.owl
MONDO:0010510	biolink:NamedThing	intellectual disability, X-linked 105	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene.	DOVES_relaxed.owl
MONDO:0010656	biolink:NamedThing	intellectual disability, X-linked 1	An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.	DOVES_relaxed.owl
MONDO:0010659	biolink:NamedThing	FRAXE intellectual disability	A nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.	DOVES_relaxed.owl
MONDO:0010660	biolink:NamedThing	intellectual disability, X-linked 9	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene.	DOVES_relaxed.owl
MONDO:0026723	biolink:NamedThing	intellectual developmental disorder, X-linked 108		DOVES_relaxed.owl
MONDO:0030907	biolink:NamedThing	intellectual disability, X-linked 106		DOVES_relaxed.owl
MONDO:0049222	biolink:NamedThing	intellectual disability, X-linked 107		DOVES_relaxed.owl
MONDO:0020718	biolink:NamedThing	congenital short bowel syndrome, autosomal recessive		DOVES_relaxed.owl
MONDO:0011021	biolink:NamedThing	neuronal intestinal dysplasia, type B		DOVES_relaxed.owl
MONDO:0012317	biolink:NamedThing	visceral neuropathy, familial, 3, autosomal dominant		DOVES_relaxed.owl
MONDO:0015191	biolink:NamedThing	myopathic intestinal pseudoobstruction		DOVES_relaxed.owl
MONDO:8000011	biolink:NamedThing	visceral neuropathy, familial, 1, autosomal recessive	A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.	DOVES_relaxed.owl
MONDO:0010233	biolink:NamedThing	heterotopia, periventricular, X-linked dominant		DOVES_relaxed.owl
MONDO:0011966	biolink:NamedThing	periventricular heterotopia with microcephaly, autosomal recessive		DOVES_relaxed.owl
MONDO:0011967	biolink:NamedThing	heterotopia, periventricular, associated with chromosome 5P anomalies		DOVES_relaxed.owl
MONDO:0013031	biolink:NamedThing	chromosome 5Q14.3 deletion syndrome, distal		DOVES_relaxed.owl
MONDO:0014240	biolink:NamedThing	periventricular nodular heterotopia 6	Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene.	DOVES_relaxed.owl
MONDO:0014966	biolink:NamedThing	periventricular nodular heterotopia 7	Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.	DOVES_relaxed.owl
MONDO:0030061	biolink:NamedThing	periventricular nodular heterotopia 9		DOVES_relaxed.owl
MONDO:0032588	biolink:NamedThing	periventricular nodular heterotopia 8		DOVES_relaxed.owl
MONDO:0010235	biolink:NamedThing	X-linked intellectual disability-psychosis-macroorchidism syndrome		DOVES_relaxed.owl
MONDO:0010258	biolink:NamedThing	MEHMO syndrome	MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.	DOVES_relaxed.owl
MONDO:0010325	biolink:NamedThing	X-linked intellectual disability, Stocco dos Santos type		DOVES_relaxed.owl
MONDO:0010339	biolink:NamedThing	X-linked epilepsy-learning disabilities-behavior disorders syndrome	X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).	DOVES_relaxed.owl
MONDO:0010354	biolink:NamedThing	Allan-Herndon-Dudley syndrome	A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.	DOVES_relaxed.owl
MONDO:0010364	biolink:NamedThing	X-linked intellectual disability-retinitis pigmentosa syndrome	X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.	DOVES_relaxed.owl
MONDO:0010398	biolink:NamedThing	syndromic X-linked intellectual disability 14	Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene.	DOVES_relaxed.owl
MONDO:0010407	biolink:NamedThing	intellectual disability, X-linked syndromic, Turner type	An X-linked syndromic intellectual disability characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.	DOVES_relaxed.owl
MONDO:0010409	biolink:NamedThing	syndromic X-linked intellectual disability Shrimpton type	X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome.	DOVES_relaxed.owl
MONDO:0010412	biolink:NamedThing	X-linked intellectual disability-craniofacioskeletal syndrome	X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.	DOVES_relaxed.owl
MONDO:0010427	biolink:NamedThing	syndromic X-linked intellectual disability Raymond type	A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1.	DOVES_relaxed.owl
MONDO:0010461	biolink:NamedThing	syndromic X-linked intellectual disability Nascimento type	X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.	DOVES_relaxed.owl
MONDO:0010462	biolink:NamedThing	syndromic X-linked intellectual disability Chudley-Schwartz type	A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23.	DOVES_relaxed.owl
MONDO:0010473	biolink:NamedThing	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28.	DOVES_relaxed.owl
MONDO:0010483	biolink:NamedThing	X-linked intellectual disability, Cantagrel type	X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.	DOVES_relaxed.owl
MONDO:0010500	biolink:NamedThing	intellectual disability, X-linked, syndromic 33	Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene.	DOVES_relaxed.owl
MONDO:0010502	biolink:NamedThing	intellectual disability, X-linked 99, syndromic, female-restricted	Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene.	DOVES_relaxed.owl
MONDO:0010512	biolink:NamedThing	intellectual disability, X-linked, syndromic, Bain type		DOVES_relaxed.owl
MONDO:0010537	biolink:NamedThing	Borjeson-Forssman-Lehmann syndrome	A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.	DOVES_relaxed.owl
MONDO:0010561	biolink:NamedThing	Coffin-Lowry syndrome	A rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.	DOVES_relaxed.owl
MONDO:0010650	biolink:NamedThing	Melnick-Needles syndrome	A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.	DOVES_relaxed.owl
MONDO:0010652	biolink:NamedThing	X-linked intellectual disability-seizures-psoriasis syndrome	X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive.	DOVES_relaxed.owl
MONDO:0010653	biolink:NamedThing	Renpenning syndrome	An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature.	DOVES_relaxed.owl
MONDO:0010654	biolink:NamedThing	Partington syndrome	A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0010658	biolink:NamedThing	syndromic X-linked intellectual disability 12	X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.	DOVES_relaxed.owl
MONDO:0010661	biolink:NamedThing	severe X-linked intellectual disability, Gustavson type	Severe X-linked intellectual disability, Gustavson type is characterised by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.	DOVES_relaxed.owl
MONDO:0010665	biolink:NamedThing	Wilson-Turner syndrome	A very rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.	DOVES_relaxed.owl
MONDO:0010667	biolink:NamedThing	Prieto syndrome	This syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth.	DOVES_relaxed.owl
MONDO:0010670	biolink:NamedThing	X-linked intellectual disability-spastic quadriparesis syndrome		DOVES_relaxed.owl
MONDO:0010729	biolink:NamedThing	X-linked intellectual disability, Schimke type	X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.	DOVES_relaxed.owl
MONDO:0015600	biolink:NamedThing	X-linked intellectual disability, Cilliers type	X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).	DOVES_relaxed.owl
MONDO:0015601	biolink:NamedThing	X-linked intellectual disability, van Esch type	X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism.	DOVES_relaxed.owl
MONDO:0016980	biolink:NamedThing	ATR-X-related syndrome		DOVES_relaxed.owl
MONDO:0017616	biolink:NamedThing	X-linked intellectual disability, Schutz type		DOVES_relaxed.owl
MONDO:0018709	biolink:NamedThing	X-linked intellectual disability-hypotonia-movement disorder syndrome		DOVES_relaxed.owl
MONDO:0019032	biolink:NamedThing	X-linked intellectual disability with isolated growth hormone deficiency		DOVES_relaxed.owl
MONDO:0019417	biolink:NamedThing	X-linked intellectual disability-precocious puberty-obesity syndrome	X-linked intellectual disability-precocious puberty-obesity syndrome is characterised by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked.	DOVES_relaxed.owl
MONDO:0019419	biolink:NamedThing	X-linked intellectual disability-macrocephaly-macroorchidism syndrome	X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome.	DOVES_relaxed.owl
MONDO:0019421	biolink:NamedThing	X-linked intellectual disability, Seemanova type	X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.	DOVES_relaxed.owl
MONDO:0019424	biolink:NamedThing	X-linked intellectual disability-acromegaly-hyperactivity syndrome	X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.	DOVES_relaxed.owl
MONDO:0019428	biolink:NamedThing	fried syndrome	A rare X-linked syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.	DOVES_relaxed.owl
MONDO:0024772	biolink:NamedThing	intellectual developmental disorder, X-linked, syndromic, Pilorge type		DOVES_relaxed.owl
MONDO:0026724	biolink:NamedThing	Paganini-Miozzo syndrome		DOVES_relaxed.owl
MONDO:0026733	biolink:NamedThing	intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type		DOVES_relaxed.owl
MONDO:0030908	biolink:NamedThing	intellectual disability, X-linked, syndromic, 35		DOVES_relaxed.owl
MONDO:0030909	biolink:NamedThing	intellectual disability, X-linked, syndromic, Houge type		DOVES_relaxed.owl
MONDO:0044618	biolink:NamedThing	CLCN4-related X-linked intellectual disability syndrome		DOVES_relaxed.owl
MONDO:0100000	biolink:NamedThing	MED12-related intellectual disability syndrome	An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity.	DOVES_relaxed.owl
MONDO:0100124	biolink:NamedThing	NAA10-related syndrome	Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies.	DOVES_relaxed.owl
MONDO:0100146	biolink:NamedThing	ATP6AP2-related disorder	Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes.	DOVES_relaxed.owl
MONDO:0010873	biolink:NamedThing	band heterotopia of brain		DOVES_relaxed.owl
MONDO:0010241	biolink:NamedThing	congenital stationary night blindness 2A	Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene.	DOVES_relaxed.owl
MONDO:0010690	biolink:NamedThing	congenital stationary night blindness 1A	A congenital stationary night blindness caused by variants in the X-linked NYX gene.	DOVES_relaxed.owl
MONDO:0010242	biolink:NamedThing	fetal akinesia syndrome, X-linked		DOVES_relaxed.owl
MONDO:0100101	biolink:NamedThing	fetal akinesia deformation sequence 1	Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.	DOVES_relaxed.owl
MONDO:0100102	biolink:NamedThing	fetal akinesia deformation sequence 2	Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene.	DOVES_relaxed.owl
MONDO:0100103	biolink:NamedThing	fetal akinesia deformation sequence 3	Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene.	DOVES_relaxed.owl
MONDO:0100104	biolink:NamedThing	fetal akinesia deformation sequence 4	Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene.	DOVES_relaxed.owl
MONDO:0010245	biolink:NamedThing	X-linked cone-rod dystrophy 2		DOVES_relaxed.owl
MONDO:0010335	biolink:NamedThing	X-linked cone-rod dystrophy 3		DOVES_relaxed.owl
MONDO:0010319	biolink:NamedThing	syndromic X-linked intellectual disability Hedera type	X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.	DOVES_relaxed.owl
MONDO:0019770	biolink:NamedThing	X-linked dominant intellectual disability-epilepsy syndrome		DOVES_relaxed.owl
MONDO:0012812	biolink:NamedThing	developmental and epileptic encephalopathy, 4	Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.	DOVES_relaxed.owl
MONDO:0013387	biolink:NamedThing	developmental and epileptic encephalopathy, 7	KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.	DOVES_relaxed.owl
MONDO:0013388	biolink:NamedThing	developmental and epileptic encephalopathy, 11	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene.	DOVES_relaxed.owl
MONDO:0013784	biolink:NamedThing	neonatal-onset encephalopathy with rigidity and seizures		DOVES_relaxed.owl
MONDO:0013989	biolink:NamedThing	developmental and epileptic encephalopathy, 14	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene.	DOVES_relaxed.owl
MONDO:0014199	biolink:NamedThing	developmental and epileptic encephalopathy, 17	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.	DOVES_relaxed.owl
MONDO:0014328	biolink:NamedThing	developmental and epileptic encephalopathy, 19	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene.	DOVES_relaxed.owl
MONDO:0014859	biolink:NamedThing	developmental and epileptic encephalopathy, 37	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.	DOVES_relaxed.owl
MONDO:0014868	biolink:NamedThing	developmental and epileptic encephalopathy, 38	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene.	DOVES_relaxed.owl
MONDO:0015000	biolink:NamedThing	developmental and epileptic encephalopathy, 48	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.	DOVES_relaxed.owl
MONDO:0015002	biolink:NamedThing	developmental and epileptic encephalopathy, 49	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene.	DOVES_relaxed.owl
MONDO:0015025	biolink:NamedThing	developmental and epileptic encephalopathy, 51	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.	DOVES_relaxed.owl
MONDO:0023659	biolink:NamedThing	developmental and epileptic encephalopathy 96		DOVES_relaxed.owl
MONDO:0025353	biolink:NamedThing	developmental and epileptic encephalopathy, 90		DOVES_relaxed.owl
MONDO:0026771	biolink:NamedThing	developmental and epileptic encephalopathy, 85, with or without midline brain defects		DOVES_relaxed.owl
MONDO:0029138	biolink:NamedThing	developmental and epileptic encephalopathy, 67		DOVES_relaxed.owl
MONDO:0030054	biolink:NamedThing	developmental and epileptic encephalopathy, 86		DOVES_relaxed.owl
MONDO:0030059	biolink:NamedThing	developmental and epileptic encephalopathy, 87		DOVES_relaxed.owl
MONDO:0030072	biolink:NamedThing	developmental and epileptic encephalopathy, 88		DOVES_relaxed.owl
MONDO:0030268	biolink:NamedThing	developmental and epileptic encephalopathy 6B		DOVES_relaxed.owl
MONDO:0030453	biolink:NamedThing	developmental and epileptic encephalopathy 97		DOVES_relaxed.owl
MONDO:0030472	biolink:NamedThing	developmental and epileptic encephalopathy 98		DOVES_relaxed.owl
MONDO:0030473	biolink:NamedThing	developmental and epileptic encephalopathy 99		DOVES_relaxed.owl
MONDO:0030695	biolink:NamedThing	developmental and epileptic encephalopathy 100		DOVES_relaxed.owl
MONDO:0030727	biolink:NamedThing	developmental and epileptic encephalopathy 101		DOVES_relaxed.owl
MONDO:0030856	biolink:NamedThing	developmental and epileptic encephalopathy 89		DOVES_relaxed.owl
MONDO:0030881	biolink:NamedThing	developmental and epileptic encephalopathy 102		DOVES_relaxed.owl
MONDO:0030957	biolink:NamedThing	developmental and epileptic encephalopathy 103		DOVES_relaxed.owl
MONDO:0031021	biolink:NamedThing	developmental and epileptic encephalopathy 104		DOVES_relaxed.owl
MONDO:0031028	biolink:NamedThing	developmental and epileptic encephalopathy 105 with hypopituitarism		DOVES_relaxed.owl
MONDO:0031052	biolink:NamedThing	developmental and epileptic encephalopathy 106		DOVES_relaxed.owl
MONDO:0031055	biolink:NamedThing	developmental and epileptic encephalopathy 107		DOVES_relaxed.owl
MONDO:0032598	biolink:NamedThing	developmental and epileptic encephalopathy, 68		DOVES_relaxed.owl
MONDO:0032657	biolink:NamedThing	developmental and epileptic encephalopathy, 69		DOVES_relaxed.owl
MONDO:0032663	biolink:NamedThing	developmental and epileptic encephalopathy, 70		DOVES_relaxed.owl
MONDO:0032678	biolink:NamedThing	developmental and epileptic encephalopathy, 71		DOVES_relaxed.owl
MONDO:0032710	biolink:NamedThing	developmental and epileptic encephalopathy, 72		DOVES_relaxed.owl
MONDO:0032725	biolink:NamedThing	developmental and epileptic encephalopathy, 74		DOVES_relaxed.owl
MONDO:0032752	biolink:NamedThing	developmental and epileptic encephalopathy, 75		DOVES_relaxed.owl
MONDO:0032768	biolink:NamedThing	developmental and epileptic encephalopathy, 76		DOVES_relaxed.owl
MONDO:0032812	biolink:NamedThing	developmental and epileptic encephalopathy, 78		DOVES_relaxed.owl
MONDO:0032813	biolink:NamedThing	developmental and epileptic encephalopathy, 79		DOVES_relaxed.owl
MONDO:0032822	biolink:NamedThing	developmental and epileptic encephalopathy, 80		DOVES_relaxed.owl
MONDO:0032858	biolink:NamedThing	developmental and epileptic encephalopathy, 81		DOVES_relaxed.owl
MONDO:0032880	biolink:NamedThing	developmental and epileptic encephalopathy, 82		DOVES_relaxed.owl
MONDO:0032895	biolink:NamedThing	developmental and epileptic encephalopathy, 83		DOVES_relaxed.owl
MONDO:0032918	biolink:NamedThing	developmental and epileptic encephalopathy, 84		DOVES_relaxed.owl
MONDO:0033361	biolink:NamedThing	developmental and epileptic encephalopathy, 52		DOVES_relaxed.owl
MONDO:0033362	biolink:NamedThing	developmental and epileptic encephalopathy, 53		DOVES_relaxed.owl
MONDO:0033363	biolink:NamedThing	developmental and epileptic encephalopathy, 54		DOVES_relaxed.owl
MONDO:0033364	biolink:NamedThing	developmental and epileptic encephalopathy, 55		DOVES_relaxed.owl
MONDO:0033365	biolink:NamedThing	developmental and epileptic encephalopathy, 56		DOVES_relaxed.owl
MONDO:0033366	biolink:NamedThing	developmental and epileptic encephalopathy, 57		DOVES_relaxed.owl
MONDO:0033367	biolink:NamedThing	developmental and epileptic encephalopathy, 58		DOVES_relaxed.owl
MONDO:0033368	biolink:NamedThing	developmental and epileptic encephalopathy, 59		DOVES_relaxed.owl
MONDO:0033369	biolink:NamedThing	developmental and epileptic encephalopathy, 60		DOVES_relaxed.owl
MONDO:0033370	biolink:NamedThing	developmental and epileptic encephalopathy, 61		DOVES_relaxed.owl
MONDO:0033371	biolink:NamedThing	developmental and epileptic encephalopathy, 62		DOVES_relaxed.owl
MONDO:0033372	biolink:NamedThing	developmental and epileptic encephalopathy, 63		DOVES_relaxed.owl
MONDO:0033373	biolink:NamedThing	developmental and epileptic encephalopathy, 64		DOVES_relaxed.owl
MONDO:0033374	biolink:NamedThing	developmental and epileptic encephalopathy, 65		DOVES_relaxed.owl
MONDO:0054845	biolink:NamedThing	developmental and epileptic encephalopathy, 66		DOVES_relaxed.owl
MONDO:0100079	biolink:NamedThing	developmental and epileptic encephalopathy, 6	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene.	DOVES_relaxed.owl
MONDO:0100107	biolink:NamedThing	non-neonatal early infantile epileptic encephalopathy	Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death.	DOVES_relaxed.owl
MONDO:0100135	biolink:NamedThing	Dravet syndrome	Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.	DOVES_relaxed.owl
MONDO:0100455	biolink:NamedThing	neonatal-onset developmental and epileptic encephalopathy	A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.	DOVES_relaxed.owl
MONDO:0010247	biolink:NamedThing	X-linked cerebral adrenoleukodystrophy	A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.	DOVES_relaxed.owl
MONDO:0100315	biolink:NamedThing	isolated adrenal insufficiency	An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age.	DOVES_relaxed.owl
MONDO:0010252	biolink:NamedThing	intellectual disability, X-linked, with panhypopituitarism		DOVES_relaxed.owl
MONDO:0010257	biolink:NamedThing	prostate cancer, hereditary, X-linked 1		DOVES_relaxed.owl
MONDO:0010405	biolink:NamedThing	prostate cancer, hereditary, X-linked 2		DOVES_relaxed.owl
MONDO:0011098	biolink:NamedThing	prostate cancer, hereditary, 1	Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.	DOVES_relaxed.owl
MONDO:0011270	biolink:NamedThing	prostate cancer, hereditary, 8		DOVES_relaxed.owl
MONDO:0012093	biolink:NamedThing	prostate cancer, hereditary, 3		DOVES_relaxed.owl
MONDO:0012094	biolink:NamedThing	prostate cancer, hereditary, 4		DOVES_relaxed.owl
MONDO:0012244	biolink:NamedThing	prostate cancer, hereditary, 5		DOVES_relaxed.owl
MONDO:0012300	biolink:NamedThing	prostate cancer, hereditary, 6		DOVES_relaxed.owl
MONDO:0012470	biolink:NamedThing	prostate cancer, hereditary, 7		DOVES_relaxed.owl
MONDO:0012597	biolink:NamedThing	prostate cancer, hereditary, 9		DOVES_relaxed.owl
MONDO:0012620	biolink:NamedThing	prostate cancer, hereditary, 10		DOVES_relaxed.owl
MONDO:0012741	biolink:NamedThing	prostate cancer, hereditary, 12	Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.	DOVES_relaxed.owl
MONDO:0012758	biolink:NamedThing	prostate cancer, hereditary, 13	Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene.	DOVES_relaxed.owl
MONDO:0012768	biolink:NamedThing	prostate cancer, hereditary, 11		DOVES_relaxed.owl
MONDO:0012769	biolink:NamedThing	prostate cancer, hereditary, 14		DOVES_relaxed.owl
MONDO:0012770	biolink:NamedThing	prostate cancer, hereditary, 15		DOVES_relaxed.owl
MONDO:0013872	biolink:NamedThing	prostate cancer, hereditary, 2	Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene.	DOVES_relaxed.owl
MONDO:0010265	biolink:NamedThing	Simpson-Golabi-Behmel syndrome type 2	Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.	DOVES_relaxed.owl
MONDO:0020602	biolink:NamedThing	Simpson-Golabi-Behmel syndrome type 1	Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.	DOVES_relaxed.owl
MONDO:0035826	biolink:NamedThing	symptomatic form of X-linked centronuclear myopathy in female carriers		DOVES_relaxed.owl
MONDO:0017007	biolink:NamedThing	partial deletion of the long arm of chromosome X		DOVES_relaxed.owl
MONDO:0010282	biolink:NamedThing	mycobacterium tuberculosis, susceptibility to, X-linked		DOVES_relaxed.owl
MONDO:0011940	biolink:NamedThing	mycobacterium tuberculosis, susceptibility to		DOVES_relaxed.owl
MONDO:0011941	biolink:NamedThing	mycobacterium tuberculosis, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0012606	biolink:NamedThing	mycobacterium tuberculosis, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0013045	biolink:NamedThing	mycobacterium tuberculosis, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0017010	biolink:NamedThing	partial duplication of the long arm of chromosome X	Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0010467	biolink:NamedThing	Xq27.3q28 duplication syndrome	Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0010507	biolink:NamedThing	Xq25 microduplication syndrome		DOVES_relaxed.owl
MONDO:0017794	biolink:NamedThing	Xq12-q13.3 duplication syndrome	Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.	DOVES_relaxed.owl
MONDO:0010287	biolink:NamedThing	hereditary spastic paraplegia 16	A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.	DOVES_relaxed.owl
MONDO:0017916	biolink:NamedThing	pure or complex X-linked spastic paraplegia		DOVES_relaxed.owl
MONDO:0020740	biolink:NamedThing	ectodermal dysplasia and immunodeficiency 1		DOVES_relaxed.owl
MONDO:0010297	biolink:NamedThing	FG syndrome 2	Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene.	DOVES_relaxed.owl
MONDO:0010316	biolink:NamedThing	FG syndrome 3		DOVES_relaxed.owl
MONDO:0010318	biolink:NamedThing	FG syndrome 4	Any FG syndrome in which the cause of the disease is a mutation in the CASK gene.	DOVES_relaxed.owl
MONDO:0010366	biolink:NamedThing	FG syndrome 5		DOVES_relaxed.owl
MONDO:0010590	biolink:NamedThing	FG syndrome 1	Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.	DOVES_relaxed.owl
MONDO:0010299	biolink:NamedThing	hypoxanthine guanine phosphoribosyltransferase partial deficiency	Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.	DOVES_relaxed.owl
MONDO:0010304	biolink:NamedThing	Graves disease, susceptibility to, X-linked 1		DOVES_relaxed.owl
MONDO:0011314	biolink:NamedThing	Graves disease, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0011980	biolink:NamedThing	autoimmune thyroid disease, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0011981	biolink:NamedThing	autoimmune thyroid disease, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0011982	biolink:NamedThing	autoimmune thyroid disease, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0011983	biolink:NamedThing	autoimmune thyroid disease, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0100489	biolink:NamedThing	Graves disease, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0012996	biolink:NamedThing	AGAT deficiency	L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.	DOVES_relaxed.owl
MONDO:0012999	biolink:NamedThing	guanidinoacetate methyltransferase deficiency	Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.	DOVES_relaxed.owl
MONDO:0016097	biolink:NamedThing	symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers	Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.	DOVES_relaxed.owl
MONDO:0010314	biolink:NamedThing	polymicrogyria, bilateral perisylvian, X-linked		DOVES_relaxed.owl
MONDO:0020340	biolink:NamedThing	bilateral perisylvian polymicrogyria		DOVES_relaxed.owl
MONDO:0014333	biolink:NamedThing	polymicrogyria, bilateral perisylvian, autosomal recessive		DOVES_relaxed.owl
MONDO:0014679	biolink:NamedThing	polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		DOVES_relaxed.owl
MONDO:0010730	biolink:NamedThing	combined immunodeficiency, X-linked		DOVES_relaxed.owl
MONDO:0014168	biolink:NamedThing	severe combined immunodeficiency due to CORO1A deficiency		DOVES_relaxed.owl
MONDO:0015702	biolink:NamedThing	T-B+ severe combined immunodeficiency due to CD45 deficiency		DOVES_relaxed.owl
MONDO:0015703	biolink:NamedThing	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		DOVES_relaxed.owl
MONDO:0044721	biolink:NamedThing	severe combined immunodeficiency due to LAT deficiency		DOVES_relaxed.owl
MONDO:0010321	biolink:NamedThing	autism, susceptibility to, X-linked 1		DOVES_relaxed.owl
MONDO:0010341	biolink:NamedThing	autism, susceptibility to, X-linked 2	A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations).	DOVES_relaxed.owl
MONDO:0010342	biolink:NamedThing	autism, susceptibility to, X-linked 3		DOVES_relaxed.owl
MONDO:0010440	biolink:NamedThing	autism, susceptibility to, X-linked 4		DOVES_relaxed.owl
MONDO:0010449	biolink:NamedThing	autism, susceptibility to, X-linked 5		DOVES_relaxed.owl
MONDO:0010469	biolink:NamedThing	epsilon-trimethyllysine hydroxylase deficiency		DOVES_relaxed.owl
MONDO:0011627	biolink:NamedThing	autism, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0011824	biolink:NamedThing	autism, susceptibility to, 8		DOVES_relaxed.owl
MONDO:0011956	biolink:NamedThing	autism, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0012261	biolink:NamedThing	autism, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0012533	biolink:NamedThing	autism, susceptibility to, 7		DOVES_relaxed.owl
MONDO:0012566	biolink:NamedThing	autism, susceptibility to, 11		DOVES_relaxed.owl
MONDO:0012567	biolink:NamedThing	autism, susceptibility to, 12		DOVES_relaxed.owl
MONDO:0012578	biolink:NamedThing	autism, susceptibility to, 13		DOVES_relaxed.owl
MONDO:0012600	biolink:NamedThing	autism, susceptibility to, 9		DOVES_relaxed.owl
MONDO:0012601	biolink:NamedThing	autism, susceptibility to, 10		DOVES_relaxed.owl
MONDO:0012801	biolink:NamedThing	autism, susceptibility to, 15		DOVES_relaxed.owl
MONDO:0013258	biolink:NamedThing	autism, susceptibility to, 16		DOVES_relaxed.owl
MONDO:0013265	biolink:NamedThing	autism, susceptibility to, 17		DOVES_relaxed.owl
MONDO:0014017	biolink:NamedThing	autism, susceptibility to, 18		DOVES_relaxed.owl
MONDO:0014041	biolink:NamedThing	autism, susceptibility to, 19		DOVES_relaxed.owl
MONDO:0020643	biolink:NamedThing	autism susceptibility 1		DOVES_relaxed.owl
MONDO:0030004	biolink:NamedThing	autism, susceptibility to, 20		DOVES_relaxed.owl
MONDO:0800275	biolink:NamedThing	autism, susceptibility to, 14a		DOVES_relaxed.owl
MONDO:0800287	biolink:NamedThing	autism, susceptibility to, 14b		DOVES_relaxed.owl
MONDO:0800416	biolink:NamedThing	autism, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0800417	biolink:NamedThing	autism, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0018450	biolink:NamedThing	spinal muscular atrophy with respiratory distress type 2	Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.	DOVES_relaxed.owl
MONDO:0010340	biolink:NamedThing	Asperger syndrome, X-linked, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0010343	biolink:NamedThing	Asperger syndrome, X-linked, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0012079	biolink:NamedThing	asperger syndrome, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0012082	biolink:NamedThing	asperger syndrome, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0012119	biolink:NamedThing	asperger syndrome, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0012377	biolink:NamedThing	asperger syndrome, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0010349	biolink:NamedThing	ovarian dysgenesis 2	Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene.	DOVES_relaxed.owl
MONDO:0012734	biolink:NamedThing	SERKAL syndrome	SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.	DOVES_relaxed.owl
MONDO:0013689	biolink:NamedThing	ovarian dysgenesis 3	Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene.	DOVES_relaxed.owl
MONDO:0020857	biolink:NamedThing	ovarian dysgenesis 7		DOVES_relaxed.owl
MONDO:0024463	biolink:NamedThing	ovarian dysgenesis 1		DOVES_relaxed.owl
MONDO:0030506	biolink:NamedThing	ovarian dysgenesis 9		DOVES_relaxed.owl
MONDO:0030736	biolink:NamedThing	ovarian dysgenesis 10		DOVES_relaxed.owl
MONDO:0032590	biolink:NamedThing	ovarian dysgenesis 8		DOVES_relaxed.owl
MONDO:0054666	biolink:NamedThing	ovarian dysgenesis 5		DOVES_relaxed.owl
MONDO:0054850	biolink:NamedThing	ovarian dysgenesis 6		DOVES_relaxed.owl
MONDO:0017004	biolink:NamedThing	partial monosomy of the short arm of chromosome X		DOVES_relaxed.owl
MONDO:0010399	biolink:NamedThing	chromosome Xp21 deletion syndrome		DOVES_relaxed.owl
MONDO:0015606	biolink:NamedThing	Xp22.3 microdeletion syndrome	Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.	DOVES_relaxed.owl
MONDO:0016850	biolink:NamedThing	atypical Norrie disease due to monosomy Xp11.3	Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.	DOVES_relaxed.owl
MONDO:0010365	biolink:NamedThing	myopathy, congenital, with fiber-type disproportion, X-linked		DOVES_relaxed.owl
MONDO:0019219	biolink:NamedThing	inborn disorder of neurotransmitter metabolism and transport		DOVES_relaxed.owl
MONDO:0018130	biolink:NamedThing	brain dopamine-serotonin vesicular transport disease	Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.	DOVES_relaxed.owl
MONDO:0100064	biolink:NamedThing	tyrosine hydroxylase deficiency	Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa).	DOVES_relaxed.owl
MONDO:0010388	biolink:NamedThing	rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked		DOVES_relaxed.owl
MONDO:0010389	biolink:NamedThing	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene.	DOVES_relaxed.owl
MONDO:0700042	biolink:NamedThing	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency	A susceptibility or predisposition to mycobacterial infectious diseases in which the cause of the disease is a mutation in the IKBKG gene.	DOVES_relaxed.owl
MONDO:0010390	biolink:NamedThing	ocular albinism with late-onset sensorineural deafness	Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.	DOVES_relaxed.owl
MONDO:0017304	biolink:NamedThing	ocular albinism	Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.	DOVES_relaxed.owl
MONDO:0017385	biolink:NamedThing	malignant migrating partial seizures of infancy	A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay.	DOVES_relaxed.owl
MONDO:0018981	biolink:NamedThing	benign idiopathic neonatal seizures	A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.	DOVES_relaxed.owl
MONDO:0010613	biolink:NamedThing	inborn glycerol kinase deficiency	An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.	DOVES_relaxed.owl
MONDO:0018459	biolink:NamedThing	isolated glycerol kinase deficiency	Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ).	DOVES_relaxed.owl
MONDO:0010402	biolink:NamedThing	syndromic X-linked intellectual disability 94	A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.	DOVES_relaxed.owl
MONDO:0010414	biolink:NamedThing	myopathy, reducing body, X-linked, early-onset, severe		DOVES_relaxed.owl
MONDO:0010415	biolink:NamedThing	myopathy, reducing body, X-linked, childhood-onset		DOVES_relaxed.owl
MONDO:0010418	biolink:NamedThing	hereditary spastic paraplegia 34	X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.	DOVES_relaxed.owl
MONDO:0017912	biolink:NamedThing	X-linked pure spastic paraplegia		DOVES_relaxed.owl
MONDO:0010421	biolink:NamedThing	Bruton-type agammaglobulinemia	X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy.	DOVES_relaxed.owl
MONDO:0011096	biolink:NamedThing	autosomal agammaglobulinemia	Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.	DOVES_relaxed.owl
MONDO:0010422	biolink:NamedThing	Alzheimer disease 16	An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.	DOVES_relaxed.owl
MONDO:0014036	biolink:NamedThing	Alzheimer disease 17	An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.	DOVES_relaxed.owl
MONDO:0014265	biolink:NamedThing	Alzheimer disease 18	Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene.	DOVES_relaxed.owl
MONDO:0014316	biolink:NamedThing	Alzheimer disease 19	Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.	DOVES_relaxed.owl
MONDO:0017009	biolink:NamedThing	partial duplication of the short arm of chromosome X		DOVES_relaxed.owl
MONDO:0010436	biolink:NamedThing	chromosome Xq28 duplication syndrome		DOVES_relaxed.owl
MONDO:0010437	biolink:NamedThing	severe X-linked mitochondrial encephalomyopathy	Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.	DOVES_relaxed.owl
MONDO:0012191	biolink:NamedThing	hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.	DOVES_relaxed.owl
MONDO:0012510	biolink:NamedThing	combined oxidative phosphorylation defect type 2	Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.	DOVES_relaxed.owl
MONDO:0012512	biolink:NamedThing	fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.	DOVES_relaxed.owl
MONDO:0012534	biolink:NamedThing	combined oxidative phosphorylation defect type 4	Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.	DOVES_relaxed.owl
MONDO:0012718	biolink:NamedThing	hypotonia with lactic acidemia and hyperammonemia	This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.	DOVES_relaxed.owl
MONDO:0013306	biolink:NamedThing	combined oxidative phosphorylation defect type 7	Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.	DOVES_relaxed.owl
MONDO:0013570	biolink:NamedThing	combined oxidative phosphorylation defect type 8	Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.	DOVES_relaxed.owl
MONDO:0013811	biolink:NamedThing	combined oxidative phosphorylation defect type 9	Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.	DOVES_relaxed.owl
MONDO:0013865	biolink:NamedThing	mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.	DOVES_relaxed.owl
MONDO:0013969	biolink:NamedThing	combined oxidative phosphorylation defect type 11	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene.	DOVES_relaxed.owl
MONDO:0013977	biolink:NamedThing	combined oxidative phosphorylation defect type 13	Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.	DOVES_relaxed.owl
MONDO:0013986	biolink:NamedThing	combined oxidative phosphorylation defect type 14	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene.	DOVES_relaxed.owl
MONDO:0013987	biolink:NamedThing	combined oxidative phosphorylation defect type 15	Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.	DOVES_relaxed.owl
MONDO:0014162	biolink:NamedThing	infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.	DOVES_relaxed.owl
MONDO:0014190	biolink:NamedThing	combined oxidative phosphorylation defect type 17	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene.	DOVES_relaxed.owl
MONDO:0014261	biolink:NamedThing	growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.	DOVES_relaxed.owl
MONDO:0014269	biolink:NamedThing	combined oxidative phosphorylation deficiency 19	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene.	DOVES_relaxed.owl
MONDO:0014397	biolink:NamedThing	combined oxidative phosphorylation defect type 20	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene.	DOVES_relaxed.owl
MONDO:0014398	biolink:NamedThing	combined oxidative phosphorylation defect type 21	Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.	DOVES_relaxed.owl
MONDO:0014471	biolink:NamedThing	mitochondrial proton-transporting ATP synthase complex deficiency	A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).	DOVES_relaxed.owl
MONDO:0014525	biolink:NamedThing	combined oxidative phosphorylation defect type 23	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.	DOVES_relaxed.owl
MONDO:0014547	biolink:NamedThing	combined oxidative phosphorylation defect type 24	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene.	DOVES_relaxed.owl
MONDO:0014636	biolink:NamedThing	combined oxidative phosphorylation defect type 25	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene.	DOVES_relaxed.owl
MONDO:0014684	biolink:NamedThing	combined oxidative phosphorylation defect type 26	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene.	DOVES_relaxed.owl
MONDO:0014728	biolink:NamedThing	combined oxidative phosphorylation defect type 27	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.	DOVES_relaxed.owl
MONDO:0014781	biolink:NamedThing	combined oxidative phosphorylation deficiency 29	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene.	DOVES_relaxed.owl
MONDO:0014856	biolink:NamedThing	combined oxidative phosphorylation defect type 30	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene.	DOVES_relaxed.owl
MONDO:0030006	biolink:NamedThing	combined oxidative phosphorylation deficiency 40		DOVES_relaxed.owl
MONDO:0030007	biolink:NamedThing	combined oxidative phosphorylation deficiency 41		DOVES_relaxed.owl
MONDO:0030008	biolink:NamedThing	combined oxidative phosphorylation deficiency 42		DOVES_relaxed.owl
MONDO:0030017	biolink:NamedThing	combined oxidative phosphorylation deficiency 43		DOVES_relaxed.owl
MONDO:0030020	biolink:NamedThing	combined oxidative phosphorylation deficiency 44		DOVES_relaxed.owl
MONDO:0030311	biolink:NamedThing	combined oxidative phosphorylation deficiency 52		DOVES_relaxed.owl
MONDO:0030378	biolink:NamedThing	combined oxidative phosphorylation deficiency 53	An autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination.	DOVES_relaxed.owl
MONDO:0030543	biolink:NamedThing	combined oxidative phosphorylation deficiency 54		DOVES_relaxed.owl
MONDO:0032679	biolink:NamedThing	combined oxidative phosphorylation deficiency 37		DOVES_relaxed.owl
MONDO:0032712	biolink:NamedThing	combined oxidative phosphorylation deficiency 38		DOVES_relaxed.owl
MONDO:0032726	biolink:NamedThing	combined oxidative phosphorylation deficiency 39		DOVES_relaxed.owl
MONDO:0033533	biolink:NamedThing	combined oxidative phosphorylation deficiency 45		DOVES_relaxed.owl
MONDO:0033534	biolink:NamedThing	combined oxidative phosphorylation deficiency 46		DOVES_relaxed.owl
MONDO:0033537	biolink:NamedThing	combined oxidative phosphorylation deficiency 47		DOVES_relaxed.owl
MONDO:0033566	biolink:NamedThing	combined oxidative phosphorylation deficiency 48		DOVES_relaxed.owl
MONDO:0033631	biolink:NamedThing	combined oxidative phosphorylation deficiency 51		DOVES_relaxed.owl
MONDO:0054654	biolink:NamedThing	combined oxidative phosphorylation deficiency 32		DOVES_relaxed.owl
MONDO:0054677	biolink:NamedThing	combined oxidative phosphorylation deficiency 33		DOVES_relaxed.owl
MONDO:0054741	biolink:NamedThing	combined oxidative phosphorylation deficiency 34		DOVES_relaxed.owl
MONDO:0054742	biolink:NamedThing	combined oxidative phosphorylation deficiency 35		DOVES_relaxed.owl
MONDO:0054781	biolink:NamedThing	combined oxidative phosphorylation deficiency 36		DOVES_relaxed.owl
MONDO:0010438	biolink:NamedThing	paroxysmal nocturnal hemoglobinuria 1	Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene.	DOVES_relaxed.owl
MONDO:0014166	biolink:NamedThing	paroxysmal nocturnal hemoglobinuria 2	Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene.	DOVES_relaxed.owl
MONDO:0010745	biolink:NamedThing	beta-thalassemia-X-linked thrombocytopenia syndrome	Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.	DOVES_relaxed.owl
MONDO:0010456	biolink:NamedThing	renal cell carcinoma, Xp11-associated		DOVES_relaxed.owl
MONDO:0010474	biolink:NamedThing	linear skin defects with multiple congenital anomalies 2	Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene.	DOVES_relaxed.owl
MONDO:0010494	biolink:NamedThing	linear skin defects with multiple congenital anomalies 3	Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene.	DOVES_relaxed.owl
MONDO:0024552	biolink:NamedThing	linear skin defects with multiple congenital anomalies 1	Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene.	DOVES_relaxed.owl
MONDO:0010479	biolink:NamedThing	Charcot-Marie-Tooth disease X-linked dominant 6	X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).	DOVES_relaxed.owl
MONDO:0010549	biolink:NamedThing	Charcot-Marie-Tooth disease X-linked dominant 1	Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.	DOVES_relaxed.owl
MONDO:0010550	biolink:NamedThing	Charcot-Marie-Tooth disease X-linked recessive 2	X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.	DOVES_relaxed.owl
MONDO:0010551	biolink:NamedThing	Charcot-Marie-Tooth disease X-linked recessive 3	X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.	DOVES_relaxed.owl
MONDO:0010689	biolink:NamedThing	Charcot-Marie-Tooth disease X-linked recessive 4	X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.	DOVES_relaxed.owl
MONDO:0010486	biolink:NamedThing	Olmsted syndrome, X-linked		DOVES_relaxed.owl
MONDO:0030961	biolink:NamedThing	Olmsted syndrome 2		DOVES_relaxed.owl
MONDO:0100296	biolink:NamedThing	Olmsted syndrome 1	Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.	DOVES_relaxed.owl
MONDO:0018665	biolink:NamedThing	X-linked acrogigantism due to a point mutation		DOVES_relaxed.owl
MONDO:0010516	biolink:NamedThing	midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		DOVES_relaxed.owl
MONDO:0010663	biolink:NamedThing	intellectual disability-hypotonic facies syndrome, X-linked, 1	A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.	DOVES_relaxed.owl
MONDO:0010525	biolink:NamedThing	neural tube defects, X-linked		DOVES_relaxed.owl
MONDO:0011120	biolink:NamedThing	neural tube defects, folate-sensitive		DOVES_relaxed.owl
MONDO:0017062	biolink:NamedThing	spina bifida aperta		DOVES_relaxed.owl
MONDO:0016147	biolink:NamedThing	qualitative or quantitative defects of dystrophin		DOVES_relaxed.owl
MONDO:0016103	biolink:NamedThing	isolated asymptomatic elevation of creatine phosphokinase	Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.	DOVES_relaxed.owl
MONDO:0010555	biolink:NamedThing	X-linked chondrodysplasia punctata 1	Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.	DOVES_relaxed.owl
MONDO:0010559	biolink:NamedThing	MASA syndrome	MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.	DOVES_relaxed.owl
MONDO:0010569	biolink:NamedThing	X-linked complicated corpus callosum dysgenesis	X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.	DOVES_relaxed.owl
MONDO:0020339	biolink:NamedThing	X-linked complex spastic paraplegia		DOVES_relaxed.owl
MONDO:0010564	biolink:NamedThing	red-green color blindness	Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population.	DOVES_relaxed.owl
MONDO:0010571	biolink:NamedThing	otopalatodigital syndrome type 2	A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.	DOVES_relaxed.owl
MONDO:0019027	biolink:NamedThing	otopalatodigital syndrome	A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.	DOVES_relaxed.owl
MONDO:0021137	biolink:NamedThing	not rare		DOVES_relaxed.owl
MONDO:0100356	biolink:NamedThing	classic presentation	A severe form of a genetic disease.	DOVES_relaxed.owl
MONDO:0100357	biolink:NamedThing	non-classic presentation	A mild or intermediate form of a genetic disease.	DOVES_relaxed.owl
MONDO:0020173	biolink:NamedThing	benign tumor of palpebral epidermis	A benign neoplasm that involves the skin of eyelid.	DOVES_relaxed.owl
MONDO:0031257	biolink:NamedThing	high altitude pulmonary edema	A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.	DOVES_relaxed.owl
MONDO:0010596	biolink:NamedThing	membranoproliferative glomerulonephritis, X-linked		DOVES_relaxed.owl
MONDO:0018013	biolink:NamedThing	non-immunoglobulin-mediated membranoproliferative glomerulonephritis		DOVES_relaxed.owl
MONDO:0010598	biolink:NamedThing	glycogen storage disease IXa1	Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes.	DOVES_relaxed.owl
MONDO:0013091	biolink:NamedThing	glycogen storage disease IXc	A liver PhK deficiency caused by variants in the PHKG2 gene	DOVES_relaxed.owl
MONDO:0020587	biolink:NamedThing	factor XI deficiency	A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.	DOVES_relaxed.owl
MONDO:0010603	biolink:NamedThing	hemophilia A with vascular abnormality		DOVES_relaxed.owl
MONDO:0015719	biolink:NamedThing	severe hemophilia A	Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	DOVES_relaxed.owl
MONDO:0015720	biolink:NamedThing	moderately severe hemophilia A	Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	DOVES_relaxed.owl
MONDO:0015721	biolink:NamedThing	mild hemophilia A	Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	DOVES_relaxed.owl
MONDO:0015787	biolink:NamedThing	symptomatic form of hemophilia A in female carriers	A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII.	DOVES_relaxed.owl
MONDO:0010618	biolink:NamedThing	familial isolated hypoparathyroidism due to agenesis of parathyroid gland	Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).	DOVES_relaxed.owl
MONDO:0016000	biolink:NamedThing	familial isolated hypoparathyroidism due to impaired PTH secretion		DOVES_relaxed.owl
MONDO:0017262	biolink:NamedThing	inherited non-syndromic ichthyosis	A inherited ichthyosis that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0045008	biolink:NamedThing	cholesterol metabolism disease	A disease that has its basis in the disruption of cholesterol metabolic process.	DOVES_relaxed.owl
MONDO:0011735	biolink:NamedThing	hyper-IgM syndrome type 3	A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.	DOVES_relaxed.owl
MONDO:0011524	biolink:NamedThing	Dianzani autoimmune lymphoproliferative disease	Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.	DOVES_relaxed.owl
MONDO:0044921	biolink:NamedThing	atypical lymphoproliferative disorder		DOVES_relaxed.owl
MONDO:0010637	biolink:NamedThing	keratosis follicularis spinulosa decalvans, X-linked		DOVES_relaxed.owl
MONDO:0013018	biolink:NamedThing	keratosis follicularis spinulosa decalvans, autosomal dominant		DOVES_relaxed.owl
MONDO:0010642	biolink:NamedThing	Lesch-Nyhan phenotype with normal HGPRT		DOVES_relaxed.owl
MONDO:0010649	biolink:NamedThing	isolated congenital megalocornea	Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.	DOVES_relaxed.owl
MONDO:0015942	biolink:NamedThing	frontometaphyseal dysplasia	Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.	DOVES_relaxed.owl
MONDO:0016196	biolink:NamedThing	qualitative or quantitative defects of emerin		DOVES_relaxed.owl
MONDO:0021023	biolink:NamedThing	complete androgen insensitivity syndrome	Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.	DOVES_relaxed.owl
MONDO:0010727	biolink:NamedThing	Russell-silver syndrome, X-linked		DOVES_relaxed.owl
MONDO:0014663	biolink:NamedThing	Silver-Russell syndrome 3		DOVES_relaxed.owl
MONDO:0016479	biolink:NamedThing	silver-Russell syndrome due to 7p11.2p13 microduplication		DOVES_relaxed.owl
MONDO:0016480	biolink:NamedThing	silver-Russell syndrome due to an imprinting defect of 11p15		DOVES_relaxed.owl
MONDO:0016481	biolink:NamedThing	silver-Russell syndrome due to 11p15 microduplication		DOVES_relaxed.owl
MONDO:0016482	biolink:NamedThing	silver-Russell syndrome due to maternal uniparental disomy of chromosome 11		DOVES_relaxed.owl
MONDO:0019913	biolink:NamedThing	silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).	DOVES_relaxed.owl
MONDO:0020795	biolink:NamedThing	Silver-Russell syndrome 5		DOVES_relaxed.owl
MONDO:0020796	biolink:NamedThing	Silver-Russell syndrome 1		DOVES_relaxed.owl
MONDO:0030116	biolink:NamedThing	silver-russell syndrome 2		DOVES_relaxed.owl
MONDO:0030118	biolink:NamedThing	silver-russell syndrome 4		DOVES_relaxed.owl
MONDO:0010743	biolink:NamedThing	thrombocytopenia 1		DOVES_relaxed.owl
MONDO:0017057	biolink:NamedThing	hereditary thrombocytopenia with normal platelets		DOVES_relaxed.owl
MONDO:0016489	biolink:NamedThing	delta-beta-thalassemia	Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.	DOVES_relaxed.owl
MONDO:0016490	biolink:NamedThing	hemoglobin C-beta-thalassemia syndrome	Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.	DOVES_relaxed.owl
MONDO:0016491	biolink:NamedThing	hemoglobin E-beta-thalassemia syndrome	Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.	DOVES_relaxed.owl
MONDO:0018022	biolink:NamedThing	hemoglobin Lepore-beta-thalassemia syndrome		DOVES_relaxed.owl
MONDO:0018749	biolink:NamedThing	hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.	DOVES_relaxed.owl
MONDO:0010752	biolink:NamedThing	VACTERL association, X-linked, with or without hydrocephalus		DOVES_relaxed.owl
MONDO:0026762	biolink:NamedThing	Wieacker-Wolff syndrome, female-restricted		DOVES_relaxed.owl
MONDO:0033304	biolink:NamedThing	nonsyndromic deafness, Y-linked		DOVES_relaxed.owl
MONDO:0010763	biolink:NamedThing	spermatogenic failure, Y-linked, 1		DOVES_relaxed.owl
MONDO:0056795	biolink:NamedThing	X-linked spermatogenic failure 1		DOVES_relaxed.owl
MONDO:0010764	biolink:NamedThing	hearing loss, Y-linked 1		DOVES_relaxed.owl
MONDO:0027048	biolink:NamedThing	deafness, Y-linked 2		DOVES_relaxed.owl
MONDO:0017968	biolink:NamedThing	46,XY ovotesticular disorder of sex development	46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.	DOVES_relaxed.owl
MONDO:0016391	biolink:NamedThing	neonatal diabetes mellitus	Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.	DOVES_relaxed.owl
MONDO:0016807	biolink:NamedThing	pure mitochondrial myopathy	Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.	DOVES_relaxed.owl
MONDO:0010774	biolink:NamedThing	striatonigral degeneration, infantile, mitochondrial		DOVES_relaxed.owl
MONDO:0016297	biolink:NamedThing	prelingual non-syndromic genetic hearing loss	A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition.	DOVES_relaxed.owl
MONDO:0016298	biolink:NamedThing	postlingual non-syndromic genetic hearing loss	Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed.	DOVES_relaxed.owl
MONDO:0010782	biolink:NamedThing	myopathy, lactic acidosis, and sideroblastic anemia 3		DOVES_relaxed.owl
MONDO:0013307	biolink:NamedThing	myopathy, lactic acidosis, and sideroblastic anemia 2	Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene.	DOVES_relaxed.owl
MONDO:0024553	biolink:NamedThing	myopathy, lactic acidosis, and sideroblastic anemia 1	Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.	DOVES_relaxed.owl
MONDO:0016226	biolink:NamedThing	specific language disorder		DOVES_relaxed.owl
MONDO:0011184	biolink:NamedThing	childhood apraxia of speech		DOVES_relaxed.owl
MONDO:0010822	biolink:NamedThing	Warburg micro syndrome 1	Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene.	DOVES_relaxed.owl
MONDO:0013638	biolink:NamedThing	Warburg micro syndrome 3	Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene.	DOVES_relaxed.owl
MONDO:0013641	biolink:NamedThing	Warburg micro syndrome 2	Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene.	DOVES_relaxed.owl
MONDO:0014296	biolink:NamedThing	Warburg micro syndrome 4	Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene.	DOVES_relaxed.owl
MONDO:0100274	biolink:NamedThing	alkylglycerone-phosphate synthase deficiency	Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene.	DOVES_relaxed.owl
MONDO:0010829	biolink:NamedThing	CARASIL syndrome	CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.	DOVES_relaxed.owl
MONDO:0018832	biolink:NamedThing	HTRA1-related autosomal dominant cerebral small vessel disease		DOVES_relaxed.owl
MONDO:0010831	biolink:NamedThing	familial caudal dysgenesis	Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.	DOVES_relaxed.owl
MONDO:0010836	biolink:NamedThing	nanophthalmos 1		DOVES_relaxed.owl
MONDO:0012299	biolink:NamedThing	nanophthalmos 2	Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene.	DOVES_relaxed.owl
MONDO:0012754	biolink:NamedThing	nanophthalmos 3		DOVES_relaxed.owl
MONDO:0014426	biolink:NamedThing	nanophthalmos 4	Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene.	DOVES_relaxed.owl
MONDO:0010844	biolink:NamedThing	epiphyseal dysplasia, multiple, 2	Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene.	DOVES_relaxed.owl
MONDO:0010964	biolink:NamedThing	epiphyseal dysplasia, multiple, 3	Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene.	DOVES_relaxed.owl
MONDO:0013591	biolink:NamedThing	epiphyseal dysplasia, multiple, 6	Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene.	DOVES_relaxed.owl
MONDO:0010850	biolink:NamedThing	Tessier number 4 facial cleft		DOVES_relaxed.owl
MONDO:0015415	biolink:NamedThing	oblique facial cleft		DOVES_relaxed.owl
MONDO:0015416	biolink:NamedThing	Tessier number 5 facial cleft		DOVES_relaxed.owl
MONDO:0015417	biolink:NamedThing	Tessier number 6 facial cleft		DOVES_relaxed.owl
MONDO:0015480	biolink:NamedThing	coloboma of superior eyelid	Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.	DOVES_relaxed.owl
MONDO:0015481	biolink:NamedThing	coloboma of inferior eyelid	Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.	DOVES_relaxed.owl
MONDO:0010857	biolink:NamedThing	semantic dementia	Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.	DOVES_relaxed.owl
MONDO:0010859	biolink:NamedThing	atrioventricular septal defect 3	Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene.	DOVES_relaxed.owl
MONDO:0013747	biolink:NamedThing	atrioventricular septal defect 4	Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.	DOVES_relaxed.owl
MONDO:0013769	biolink:NamedThing	atrioventricular septal defect 5	Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.	DOVES_relaxed.owl
MONDO:0014344	biolink:NamedThing	congenital heart defects, multiple types, 4	Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene.	DOVES_relaxed.owl
MONDO:0015275	biolink:NamedThing	partial atrioventricular canal	Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.	DOVES_relaxed.owl
MONDO:0010868	biolink:NamedThing	rippling muscle disease 1		DOVES_relaxed.owl
MONDO:0019947	biolink:NamedThing	rippling muscle disease 2	An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype.	DOVES_relaxed.owl
MONDO:0010870	biolink:NamedThing	tibial muscular dystrophy	A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.	DOVES_relaxed.owl
MONDO:0011466	biolink:NamedThing	distal myopathy, Welander type	Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.	DOVES_relaxed.owl
MONDO:0012130	biolink:NamedThing	myofibrillar myopathy 2	Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.	DOVES_relaxed.owl
MONDO:0012410	biolink:NamedThing	Finnish upper limb-onset distal myopathy	Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.	DOVES_relaxed.owl
MONDO:0013550	biolink:NamedThing	distal myopathy with posterior leg and anterior hand involvement	Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.	DOVES_relaxed.owl
MONDO:0013686	biolink:NamedThing	distal myopathy, Tateyama type	Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.	DOVES_relaxed.owl
MONDO:0018006	biolink:NamedThing	adult-onset distal myopathy due to VCP mutation	Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.	DOVES_relaxed.owl
MONDO:0018370	biolink:NamedThing	KLHL9-related early-onset distal myopathy	KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.	DOVES_relaxed.owl
MONDO:0018951	biolink:NamedThing	distal myopathy with vocal cord weakness	Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction.	DOVES_relaxed.owl
MONDO:0012448	biolink:NamedThing	hereditary spastic paraplegia 33	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene.	DOVES_relaxed.owl
MONDO:0014209	biolink:NamedThing	early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.	DOVES_relaxed.owl
MONDO:0015149	biolink:NamedThing	pure hereditary spastic paraplegia		DOVES_relaxed.owl
MONDO:0017913	biolink:NamedThing	pure or complex hereditary spastic paraplegia		DOVES_relaxed.owl
MONDO:0030482	biolink:NamedThing	spastic paraplegia 84, autosomal recessive		DOVES_relaxed.owl
MONDO:0030512	biolink:NamedThing	spastic paraplegia 85, autosomal recessive		DOVES_relaxed.owl
MONDO:0030673	biolink:NamedThing	spastic paraplegia 86, autosomal recessive		DOVES_relaxed.owl
MONDO:0031019	biolink:NamedThing	spastic paraplegia 87, autosomal recessive		DOVES_relaxed.owl
MONDO:0032737	biolink:NamedThing	spastic paraplegia 80, autosomal dominant		DOVES_relaxed.owl
MONDO:0032905	biolink:NamedThing	spastic paraplegia 81, autosomal recessive		DOVES_relaxed.owl
MONDO:0032906	biolink:NamedThing	spastic paraplegia 82, autosomal recessive		DOVES_relaxed.owl
MONDO:0033614	biolink:NamedThing	spastic paraplegia 83, autosomal recessive		DOVES_relaxed.owl
MONDO:0016901	biolink:NamedThing	partial deletion of the long arm of chromosome 2	Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0012864	biolink:NamedThing	chromosome 2q32-q33 deletion syndrome	2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.	DOVES_relaxed.owl
MONDO:0012870	biolink:NamedThing	chromosome 2q31.2 deletion syndrome		DOVES_relaxed.owl
MONDO:0015566	biolink:NamedThing	2q24 microdeletion syndrome	2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.	DOVES_relaxed.owl
MONDO:0015583	biolink:NamedThing	2p21 microdeletion syndrome	The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.	DOVES_relaxed.owl
MONDO:0016459	biolink:NamedThing	2q23.1 microdeletion syndrome	The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.	DOVES_relaxed.owl
MONDO:0016652	biolink:NamedThing	2q31.1 microdeletion syndrome	2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.	DOVES_relaxed.owl
MONDO:0016653	biolink:NamedThing	2q33.1 microdeletion syndrome	2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.	DOVES_relaxed.owl
MONDO:0016855	biolink:NamedThing	Mowat-Wilson syndrome due to monosomy 2q22		DOVES_relaxed.owl
MONDO:0010898	biolink:NamedThing	Autosomal dominant epilepsy with auditory features	A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.	DOVES_relaxed.owl
MONDO:0011965	biolink:NamedThing	familial temporal lobe epilepsy 2	A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.	DOVES_relaxed.owl
MONDO:0012705	biolink:NamedThing	familial temporal lobe epilepsy 3		DOVES_relaxed.owl
MONDO:0012706	biolink:NamedThing	familial temporal lobe epilepsy 4	A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.	DOVES_relaxed.owl
MONDO:0013741	biolink:NamedThing	familial temporal lobe epilepsy 5	A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.	DOVES_relaxed.owl
MONDO:0014308	biolink:NamedThing	familial temporal lobe epilepsy 6	A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26.	DOVES_relaxed.owl
MONDO:0014639	biolink:NamedThing	familial temporal lobe epilepsy 7	A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.	DOVES_relaxed.owl
MONDO:0014650	biolink:NamedThing	familial temporal lobe epilepsy 8	A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.	DOVES_relaxed.owl
MONDO:0010899	biolink:NamedThing	autosomal dominant nocturnal frontal lobe epilepsy 1	Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene.	DOVES_relaxed.owl
MONDO:0011297	biolink:NamedThing	autosomal dominant nocturnal frontal lobe epilepsy 2	An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24.	DOVES_relaxed.owl
MONDO:0011545	biolink:NamedThing	autosomal dominant nocturnal frontal lobe epilepsy 3	Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene.	DOVES_relaxed.owl
MONDO:0012474	biolink:NamedThing	autosomal dominant nocturnal frontal lobe epilepsy 4	Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene.	DOVES_relaxed.owl
MONDO:0014002	biolink:NamedThing	autosomal dominant nocturnal frontal lobe epilepsy 5	Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene.	DOVES_relaxed.owl
MONDO:0010903	biolink:NamedThing	craniosynostosis, Adelaide type		DOVES_relaxed.owl
MONDO:0011347	biolink:NamedThing	craniosynostosis with ectopia lentis		DOVES_relaxed.owl
MONDO:0012006	biolink:NamedThing	craniosynostosis with ocular abnormalities and hallucal defects		DOVES_relaxed.owl
MONDO:0022890	biolink:NamedThing	craniosynostosis Fontaine type		DOVES_relaxed.owl
MONDO:0022891	biolink:NamedThing	craniosynostosis Maroteaux Fonfria type		DOVES_relaxed.owl
MONDO:0022892	biolink:NamedThing	craniosynostosis alopecia brain defect		DOVES_relaxed.owl
MONDO:0022893	biolink:NamedThing	craniosynostosis arthrogryposis cleft palate		DOVES_relaxed.owl
MONDO:0022894	biolink:NamedThing	craniosynostosis autosomal dominant		DOVES_relaxed.owl
MONDO:0022895	biolink:NamedThing	craniosynostosis cleft lip palate arthrogryposis		DOVES_relaxed.owl
MONDO:0022896	biolink:NamedThing	craniosynostosis contractures cleft		DOVES_relaxed.owl
MONDO:0022897	biolink:NamedThing	craniosynostosis exostoses nevus epibulbar dermoid		DOVES_relaxed.owl
MONDO:0022898	biolink:NamedThing	craniosynostosis intellectual disability heart defects		DOVES_relaxed.owl
MONDO:0850073	biolink:NamedThing	non-syndromic unicoronal craniosynostosis		DOVES_relaxed.owl
MONDO:0850074	biolink:NamedThing	non-syndromic unilambdoid craniosynostosis		DOVES_relaxed.owl
MONDO:0850075	biolink:NamedThing	non-syndromic unifrontosphenoidal craniosynostosis		DOVES_relaxed.owl
MONDO:0850076	biolink:NamedThing	non-syndromic unisquamosal craniosynostosis		DOVES_relaxed.owl
MONDO:0850077	biolink:NamedThing	non-syndromic multisutural craniosynostosis		DOVES_relaxed.owl
MONDO:0850078	biolink:NamedThing	non-syndromic non-specific multisutural craniosynostosis		DOVES_relaxed.owl
MONDO:0850079	biolink:NamedThing	non-syndromic bilambdoid craniosynostosis		DOVES_relaxed.owl
MONDO:0850080	biolink:NamedThing	non-syndromic unicoronal and sagittal craniosynostosis		DOVES_relaxed.owl
MONDO:0850081	biolink:NamedThing	non-syndromic metopic and sagittal craniosynostosis		DOVES_relaxed.owl
MONDO:0850082	biolink:NamedThing	non-syndromic bicoronal and metopic craniosynostosis		DOVES_relaxed.owl
MONDO:0850083	biolink:NamedThing	non-syndromic bicoronal and sagittal craniosynostosis		DOVES_relaxed.owl
MONDO:0016044	biolink:NamedThing	cleft lip/palate	Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.	DOVES_relaxed.owl
MONDO:0012142	biolink:NamedThing	orofacial cleft 5	Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.	DOVES_relaxed.owl
MONDO:0014772	biolink:NamedThing	orofacial cleft 15	Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.	DOVES_relaxed.owl
MONDO:0010909	biolink:NamedThing	UV-sensitive syndrome 1	Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene.	DOVES_relaxed.owl
MONDO:0013829	biolink:NamedThing	UV-sensitive syndrome 2	Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene.	DOVES_relaxed.owl
MONDO:0013834	biolink:NamedThing	UV-sensitive syndrome 3	Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene.	DOVES_relaxed.owl
MONDO:0010912	biolink:NamedThing	fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene.	DOVES_relaxed.owl
MONDO:0012270	biolink:NamedThing	Tukel syndrome		DOVES_relaxed.owl
MONDO:0012310	biolink:NamedThing	fibrosis of extraocular muscles, congenital, with synergistic divergence		DOVES_relaxed.owl
MONDO:0800209	biolink:NamedThing	fibrosis of extraocular muscles, congenital, 3b		DOVES_relaxed.owl
MONDO:0100154	biolink:NamedThing	TUBB3-related tubulinopathy	A tubulinopathy syndrome associated with malformations of cortical development, axon guidance defects, white matter abnormalities, and/or congenital fibrosis of the extraocular muscles (CFEOM), due to de novo or dominantly inherited variants with high penetrance. Individuals may present with variable combinations of malformations of cortical development, dysplasia of the basal ganglia, brainstem, and/or cerebellum, CFEOM, additional cranial nerve involvement, Kallmann syndrome, cyclic vomiting, peripheral neuropathy, and/or contractures. Developmental delays, intellectual disability, ocular motor apraxia, and mirror movements are also frequent features.	DOVES_relaxed.owl
MONDO:0010927	biolink:NamedThing	orofacial cleft 3		DOVES_relaxed.owl
MONDO:0010943	biolink:NamedThing	schizophrenia 4	A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21.	DOVES_relaxed.owl
MONDO:0011280	biolink:NamedThing	schizophrenia 6	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21.	DOVES_relaxed.owl
MONDO:0011498	biolink:NamedThing	schizophrenia 9	A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2.	DOVES_relaxed.owl
MONDO:0012879	biolink:NamedThing	schizophrenia 14	A schizophrenia that has material basis in a mutation on chromosome 2q32.1.	DOVES_relaxed.owl
MONDO:0013089	biolink:NamedThing	schizophrenia 13	A schizophrenia that has material basis in a mutation on chromosome 15q13.	DOVES_relaxed.owl
MONDO:0014092	biolink:NamedThing	schizophrenia 18	A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2.	DOVES_relaxed.owl
MONDO:0010961	biolink:NamedThing	obesity due to prohormone convertase I deficiency	Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.	DOVES_relaxed.owl
MONDO:0013991	biolink:NamedThing	obesity due to congenital leptin deficiency	Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.	DOVES_relaxed.owl
MONDO:0013992	biolink:NamedThing	obesity due to leptin receptor gene deficiency		DOVES_relaxed.owl
MONDO:0020075	biolink:NamedThing	genetic non-syndromic obesity		DOVES_relaxed.owl
MONDO:0012335	biolink:NamedThing	obesity due to pro-opiomelanocortin deficiency	Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.	DOVES_relaxed.owl
MONDO:0014309	biolink:NamedThing	obesity due to CEP19 deficiency		DOVES_relaxed.owl
MONDO:0017994	biolink:NamedThing	severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency		DOVES_relaxed.owl
MONDO:0018244	biolink:NamedThing	obesity due to SIM1 deficiency		DOVES_relaxed.owl
MONDO:0019115	biolink:NamedThing	obesity due to melanocortin 4 receptor deficiency	Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.	DOVES_relaxed.owl
MONDO:0010974	biolink:NamedThing	nephrotic syndrome, type 2	Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene.	DOVES_relaxed.owl
MONDO:0012546	biolink:NamedThing	nephrotic syndrome, type 3	Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene.	DOVES_relaxed.owl
MONDO:0013619	biolink:NamedThing	nephrotic syndrome, type 6	Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene.	DOVES_relaxed.owl
MONDO:0013836	biolink:NamedThing	familial steroid-resistant nephrotic syndrome with sensorineural deafness		DOVES_relaxed.owl
MONDO:0014099	biolink:NamedThing	nephrotic syndrome, type 8	Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene.	DOVES_relaxed.owl
MONDO:0014257	biolink:NamedThing	nephrotic syndrome, type 9	Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene.	DOVES_relaxed.owl
MONDO:0014373	biolink:NamedThing	nephrotic syndrome, type 10	Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene.	DOVES_relaxed.owl
MONDO:0014752	biolink:NamedThing	nephrotic syndrome, type 11	Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene.	DOVES_relaxed.owl
MONDO:0014817	biolink:NamedThing	nephrotic syndrome, type 12	Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.	DOVES_relaxed.owl
MONDO:0014818	biolink:NamedThing	nephrotic syndrome, type 13	Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene.	DOVES_relaxed.owl
MONDO:0019652	biolink:NamedThing	familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation		DOVES_relaxed.owl
MONDO:0019653	biolink:NamedThing	familial idiopathic steroid-resistant nephrotic syndrome with minimal changes		DOVES_relaxed.owl
MONDO:0019654	biolink:NamedThing	familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis		DOVES_relaxed.owl
MONDO:0016199	biolink:NamedThing	qualitative or quantitative defects of protein SERCA1		DOVES_relaxed.owl
MONDO:0016058	biolink:NamedThing	paroxysmal dystonia		DOVES_relaxed.owl
MONDO:0015427	biolink:NamedThing	paroxysmal dyskinesia	Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).	DOVES_relaxed.owl
MONDO:0019113	biolink:NamedThing	benign paroxysmal torticollis of infancy	Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children.	DOVES_relaxed.owl
MONDO:0010985	biolink:NamedThing	epilepsy, familial adult myoclonic, 1		DOVES_relaxed.owl
MONDO:0011930	biolink:NamedThing	epilepsy, familial adult myoclonic, 2	Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene.	DOVES_relaxed.owl
MONDO:0013322	biolink:NamedThing	epilepsy, familial adult myoclonic, 3		DOVES_relaxed.owl
MONDO:0014055	biolink:NamedThing	epilepsy, familial adult myoclonic, 4		DOVES_relaxed.owl
MONDO:0014167	biolink:NamedThing	epilepsy, familial adult myoclonic, 5	Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene.	DOVES_relaxed.owl
MONDO:0054846	biolink:NamedThing	epilepsy, familial adult myoclonic, 6		DOVES_relaxed.owl
MONDO:0054847	biolink:NamedThing	epilepsy, familial adult myoclonic, 7		DOVES_relaxed.owl
MONDO:0010988	biolink:NamedThing	aplasia cutis-myopia syndrome	Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.	DOVES_relaxed.owl
MONDO:0021907	biolink:NamedThing	aplasia cutis autosomal recessive	Aplasia cutis with autosomal recessive inheritance.	DOVES_relaxed.owl
MONDO:0021908	biolink:NamedThing	aplasia cutis congenita dominant	Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance.	DOVES_relaxed.owl
MONDO:0010997	biolink:NamedThing	supranuclear palsy, progressive, 1	Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.	DOVES_relaxed.owl
MONDO:0012278	biolink:NamedThing	supranuclear palsy, progressive, 2		DOVES_relaxed.owl
MONDO:0012576	biolink:NamedThing	supranuclear palsy, progressive, 3		DOVES_relaxed.owl
MONDO:0011001	biolink:NamedThing	Brugada syndrome 1	Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene.	DOVES_relaxed.owl
MONDO:0012728	biolink:NamedThing	Brugada syndrome 2	Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene.	DOVES_relaxed.owl
MONDO:0012742	biolink:NamedThing	Brugada syndrome 3	Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene.	DOVES_relaxed.owl
MONDO:0012743	biolink:NamedThing	Brugada syndrome 4	Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene.	DOVES_relaxed.owl
MONDO:0013015	biolink:NamedThing	Brugada syndrome 5	Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene.	DOVES_relaxed.owl
MONDO:0013145	biolink:NamedThing	Brugada syndrome 6	Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene.	DOVES_relaxed.owl
MONDO:0013146	biolink:NamedThing	Brugada syndrome 7	Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene.	DOVES_relaxed.owl
MONDO:0013148	biolink:NamedThing	Brugada syndrome 8	Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene.	DOVES_relaxed.owl
MONDO:0014621	biolink:NamedThing	Brugada syndrome 9	Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene.	DOVES_relaxed.owl
MONDO:0019551	biolink:NamedThing	hereditary motor and sensory neuropathy type 6		DOVES_relaxed.owl
MONDO:0032792	biolink:NamedThing	neuropathy, hereditary motor and sensory, type VIc, with optic atrophy		DOVES_relaxed.owl
MONDO:0011006	biolink:NamedThing	hereditary spastic paraplegia 9A		DOVES_relaxed.owl
MONDO:0018644	biolink:NamedThing	autosomal dominant complex spastic paraplegia type 9B		DOVES_relaxed.owl
MONDO:0011013	biolink:NamedThing	autosomal dominant hypocalcemia 1	Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene.	DOVES_relaxed.owl
MONDO:0014146	biolink:NamedThing	autosomal dominant hypocalcemia 2	An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.	DOVES_relaxed.owl
MONDO:0011015	biolink:NamedThing	cataract 24	A cataract that has material basis in variation in the region 17p13.	DOVES_relaxed.owl
MONDO:0016144	biolink:NamedThing	qualitative or quantitative defects of delta-sarcoglycan		DOVES_relaxed.owl
MONDO:0013308	biolink:NamedThing	CBL-related disorder	CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL.	DOVES_relaxed.owl
MONDO:0011062	biolink:NamedThing	aprosencephaly cerebellar dysgenesis		DOVES_relaxed.owl
MONDO:0011070	biolink:NamedThing	van Maldergem syndrome 1	Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene.	DOVES_relaxed.owl
MONDO:0014242	biolink:NamedThing	van Maldergem syndrome 2	Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene.	DOVES_relaxed.owl
MONDO:0016630	biolink:NamedThing	isolated delta-storage pool disease	Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.	DOVES_relaxed.owl
MONDO:0035441	biolink:NamedThing	congenital autosomal recessive small-platelet thrombocytopenia	A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.	DOVES_relaxed.owl
MONDO:0011073	biolink:NamedThing	diabetes mellitus, transient neonatal, 1		DOVES_relaxed.owl
MONDO:0020525	biolink:NamedThing	transient neonatal diabetes mellitus	Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.	DOVES_relaxed.owl
MONDO:0012480	biolink:NamedThing	diabetes mellitus, transient neonatal, 2	Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene.	DOVES_relaxed.owl
MONDO:0012522	biolink:NamedThing	diabetes mellitus, transient neonatal, 3	Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene.	DOVES_relaxed.owl
MONDO:0011403	biolink:NamedThing	left ventricular noncompaction 1	Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene.	DOVES_relaxed.owl
MONDO:0012285	biolink:NamedThing	left ventricular noncompaction 2		DOVES_relaxed.owl
MONDO:0014042	biolink:NamedThing	left ventricular noncompaction 7	Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene.	DOVES_relaxed.owl
MONDO:0800346	biolink:NamedThing	left ventricular noncompaction 9		DOVES_relaxed.owl
MONDO:0800350	biolink:NamedThing	left ventricular noncompaction 4		DOVES_relaxed.owl
MONDO:0800351	biolink:NamedThing	left ventricular noncompaction 5		DOVES_relaxed.owl
MONDO:0011118	biolink:NamedThing	bilineal acute myeloid leukemia	An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003	DOVES_relaxed.owl
MONDO:0020321	biolink:NamedThing	acute undifferentiated leukemia	A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage.	DOVES_relaxed.owl
MONDO:0020743	biolink:NamedThing	mixed phenotype acute leukemia	An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage.	DOVES_relaxed.owl
MONDO:0011125	biolink:NamedThing	trichothiodystrophy 1, photosensitive		DOVES_relaxed.owl
MONDO:0014615	biolink:NamedThing	trichothiodystrophy 2, photosensitive		DOVES_relaxed.owl
MONDO:0014619	biolink:NamedThing	trichothiodystrophy 3, photosensitive		DOVES_relaxed.owl
MONDO:0011139	biolink:NamedThing	preaxial hallucal polydactyly		DOVES_relaxed.owl
MONDO:0016018	biolink:NamedThing	diabetic embryopathy	Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother.	DOVES_relaxed.owl
MONDO:0016933	biolink:NamedThing	partial trisomy/tetrasomy of the short arm of chromosome 12		DOVES_relaxed.owl
MONDO:0011153	biolink:NamedThing	hyperinsulinemic hypoglycemia, familial, 2	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.	DOVES_relaxed.owl
MONDO:0015624	biolink:NamedThing	diazoxide-sensitive diffuse hyperinsulinism		DOVES_relaxed.owl
MONDO:0017186	biolink:NamedThing	diazoxide-resistant hyperinsulinism	Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide.	DOVES_relaxed.owl
MONDO:0011158	biolink:NamedThing	autoimmune lymphoproliferative syndrome type 1		DOVES_relaxed.owl
MONDO:0011383	biolink:NamedThing	autoimmune lymphoproliferative syndrome type 2A	A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.	DOVES_relaxed.owl
MONDO:0011804	biolink:NamedThing	autoimmune lymphoproliferative syndrome type 2B	Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.	DOVES_relaxed.owl
MONDO:0013767	biolink:NamedThing	autoimmune lymphoproliferative syndrome type 4	RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.	DOVES_relaxed.owl
MONDO:0014493	biolink:NamedThing	autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.	DOVES_relaxed.owl
MONDO:8000023	biolink:NamedThing	type 3 autoimmune lymphoproliferative syndrome	A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.	DOVES_relaxed.owl
MONDO:8000024	biolink:NamedThing	autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene.	DOVES_relaxed.owl
MONDO:0011165	biolink:NamedThing	glomerulopathy with fibronectin deposits 2	Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene.	DOVES_relaxed.owl
MONDO:0024527	biolink:NamedThing	glomerulopathy with fibronectin deposits 1		DOVES_relaxed.owl
MONDO:0012208	biolink:NamedThing	congenital reticular ichthyosiform erythroderma		DOVES_relaxed.owl
MONDO:0017851	biolink:NamedThing	erythrokeratodermia variabilis	A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema.	DOVES_relaxed.owl
MONDO:0016192	biolink:NamedThing	qualitative or quantitative defects of telethonin		DOVES_relaxed.owl
MONDO:0011175	biolink:NamedThing	Friedreich ataxia 2	Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11	DOVES_relaxed.owl
MONDO:0100340	biolink:NamedThing	Friedreich ataxia 1	Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene.	DOVES_relaxed.owl
MONDO:0800301	biolink:NamedThing	Friedreich ataxia with retained reflexes		DOVES_relaxed.owl
MONDO:0011176	biolink:NamedThing	intestinal hypomagnesemia 1	Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.	DOVES_relaxed.owl
MONDO:0017626	biolink:NamedThing	familial primary hypomagnesemia with normocalcuria	Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type.	DOVES_relaxed.owl
MONDO:0016048	biolink:NamedThing	isolated autosomal dominant hypomagnesemia, Glaudemans type	Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.	DOVES_relaxed.owl
MONDO:0018101	biolink:NamedThing	familial primary hypomagnesemia with normocalciuria and normocalcemia	Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.	DOVES_relaxed.owl
MONDO:0011177	biolink:NamedThing	ectodermal dysplasia 4, hair/nail type	Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene.	DOVES_relaxed.owl
MONDO:0013974	biolink:NamedThing	ectodermal dysplasia 6, hair/nail type		DOVES_relaxed.owl
MONDO:0013975	biolink:NamedThing	ectodermal dysplasia 7, hair/nail type	Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene.	DOVES_relaxed.owl
MONDO:0013976	biolink:NamedThing	ectodermal dysplasia 9, hair/nail type	Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene.	DOVES_relaxed.owl
MONDO:0012805	biolink:NamedThing	childhood onset GLUT1 deficiency syndrome 2	A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.	DOVES_relaxed.owl
MONDO:0044202	biolink:NamedThing	episodic kinesigenic dyskinesia	Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.	DOVES_relaxed.owl
MONDO:0100019	biolink:NamedThing	ECHS1-related paroxysmal dyskinesia	A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years.	DOVES_relaxed.owl
MONDO:0700088	biolink:NamedThing	paroxysmal nonkinesigenic dyskinesia	Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.	DOVES_relaxed.owl
MONDO:0015642	biolink:NamedThing	benign partial infantile seizures		DOVES_relaxed.owl
MONDO:0015637	biolink:NamedThing	benign non-familial infantile seizures		DOVES_relaxed.owl
MONDO:0015640	biolink:NamedThing	benign infantile seizures associated with mild gastroenteritis	Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.	DOVES_relaxed.owl
MONDO:0015641	biolink:NamedThing	benign infantile focal epilepsy with midline spikes and wave during sleep	Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.	DOVES_relaxed.owl
MONDO:0011182	biolink:NamedThing	trimethylaminuria	A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals.	DOVES_relaxed.owl
MONDO:0011199	biolink:NamedThing	nephropathy, progressive tubulointerstitial, with cholestatic liver disease		DOVES_relaxed.owl
MONDO:0013433	biolink:NamedThing	primary sclerosing cholangitis	Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.	DOVES_relaxed.owl
MONDO:0011216	biolink:NamedThing	hemochromatosis type 2A	Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene.	DOVES_relaxed.owl
MONDO:0013220	biolink:NamedThing	hemochromatosis type 2B	Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene.	DOVES_relaxed.owl
MONDO:0011224	biolink:NamedThing	monomelic amyotrophy	Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.	DOVES_relaxed.owl
MONDO:0035892	biolink:NamedThing	Mills syndrome	A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.	DOVES_relaxed.owl
MONDO:0011232	biolink:NamedThing	migraine, familial hemiplegic, 2	Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene.	DOVES_relaxed.owl
MONDO:0012320	biolink:NamedThing	migraine, familial hemiplegic, 3	Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene.	DOVES_relaxed.owl
MONDO:0800335	biolink:NamedThing	migraine, familial hemiplegic, 4		DOVES_relaxed.owl
MONDO:0011234	biolink:NamedThing	auriculocondylar syndrome 1	Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.	DOVES_relaxed.owl
MONDO:0013013	biolink:NamedThing	question mark ears, isolated		DOVES_relaxed.owl
MONDO:0013845	biolink:NamedThing	auriculocondylar syndrome 2	Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.	DOVES_relaxed.owl
MONDO:0014312	biolink:NamedThing	auriculocondylar syndrome 3		DOVES_relaxed.owl
MONDO:0012382	biolink:NamedThing	hyperinsulinemic hypoglycemia, familial, 4	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene.	DOVES_relaxed.owl
MONDO:0016988	biolink:NamedThing	hyperinsulinism due to HNF4A deficiency	Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1).	DOVES_relaxed.owl
MONDO:0017183	biolink:NamedThing	hyperinsulinism due to UCP2 deficiency	HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.	DOVES_relaxed.owl
MONDO:0017184	biolink:NamedThing	autosomal dominant hyperinsulinism due to SUR1 deficiency	Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism).	DOVES_relaxed.owl
MONDO:0017185	biolink:NamedThing	autosomal dominant hyperinsulinism due to Kir6.2 deficiency	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).	DOVES_relaxed.owl
MONDO:0017935	biolink:NamedThing	hyperinsulinism due to HNF1A deficiency	Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life.	DOVES_relaxed.owl
MONDO:0011239	biolink:NamedThing	colobomatous macrophthalmia-microcornea syndrome		DOVES_relaxed.owl
MONDO:0020147	biolink:NamedThing	anophthalmia-microphthalmia syndrome		DOVES_relaxed.owl
MONDO:0019009	biolink:NamedThing	isolated focal cortical dysplasia	Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.	DOVES_relaxed.owl
MONDO:0030896	biolink:NamedThing	chromosome 13q33-q34 deletion syndrome		DOVES_relaxed.owl
MONDO:0011249	biolink:NamedThing	torsion dystonia with onset in infancy	A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.	DOVES_relaxed.owl
MONDO:0011264	biolink:NamedThing	torsion dystonia 6	Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.	DOVES_relaxed.owl
MONDO:0018303	biolink:NamedThing	generalized isolated dystonia		DOVES_relaxed.owl
MONDO:0013813	biolink:NamedThing	dystonia 21	Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.	DOVES_relaxed.owl
MONDO:0011281	biolink:NamedThing	congenital myasthenic syndrome 5	Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.	DOVES_relaxed.owl
MONDO:0011304	biolink:NamedThing	cerebral cavernous malformation 2	Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.	DOVES_relaxed.owl
MONDO:0011305	biolink:NamedThing	cerebral cavernous malformation 3	Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene.	DOVES_relaxed.owl
MONDO:0020724	biolink:NamedThing	cerebral cavernous malformation 1		DOVES_relaxed.owl
MONDO:0011313	biolink:NamedThing	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene.	DOVES_relaxed.owl
MONDO:0014407	biolink:NamedThing	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene.	DOVES_relaxed.owl
MONDO:0014408	biolink:NamedThing	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene.	DOVES_relaxed.owl
MONDO:0011326	biolink:NamedThing	citrullinemia, type II, adult-onset	Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.	DOVES_relaxed.owl
MONDO:0016603	biolink:NamedThing	citrullinemia type II	Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.	DOVES_relaxed.owl
MONDO:0011339	biolink:NamedThing	hereditary spastic paraplegia 8	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene.	DOVES_relaxed.owl
MONDO:0011489	biolink:NamedThing	hereditary spastic paraplegia 12	Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.	DOVES_relaxed.owl
MONDO:0011785	biolink:NamedThing	hereditary spastic paraplegia 19	Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.	DOVES_relaxed.owl
MONDO:0012766	biolink:NamedThing	hereditary spastic paraplegia 37	Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.	DOVES_relaxed.owl
MONDO:0012928	biolink:NamedThing	hereditary spastic paraplegia 42	Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.	DOVES_relaxed.owl
MONDO:0013239	biolink:NamedThing	hereditary spastic paraplegia 41	Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.	DOVES_relaxed.owl
MONDO:0014568	biolink:NamedThing	hereditary spastic paraplegia 73	Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.	DOVES_relaxed.owl
MONDO:0017455	biolink:NamedThing	hyperphalangy	Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.	DOVES_relaxed.owl
MONDO:0011354	biolink:NamedThing	situs inversus totalis with cystic dysplasia of kidneys and pancreas		DOVES_relaxed.owl
MONDO:0011375	biolink:NamedThing	brittle bone disorder		DOVES_relaxed.owl
MONDO:0013924	biolink:NamedThing	osteogenesis imperfecta type 13	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene.	DOVES_relaxed.owl
MONDO:0017791	biolink:NamedThing	high bone mass osteogenesis imperfecta		DOVES_relaxed.owl
MONDO:0030714	biolink:NamedThing	osteogenesis imperfecta, IIA 22		DOVES_relaxed.owl
MONDO:0030861	biolink:NamedThing	osteogenesis imperfecta, type 21		DOVES_relaxed.owl
MONDO:0032846	biolink:NamedThing	osteogenesis imperfecta, type 20		DOVES_relaxed.owl
MONDO:0011376	biolink:NamedThing	ventricular fibrillation, paroxysmal familial, type 1		DOVES_relaxed.owl
MONDO:0100234	biolink:NamedThing	paroxysmal familial ventricular fibrillation	A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.	DOVES_relaxed.owl
MONDO:0013063	biolink:NamedThing	ventricular fibrillation, paroxysmal familial, 2	Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene.	DOVES_relaxed.owl
MONDO:0016667	biolink:NamedThing	sickle cell disease associated with an other hemoglobin anomaly		DOVES_relaxed.owl
MONDO:0011386	biolink:NamedThing	microvascular complications of diabetes, susceptibility to, 1	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene.	DOVES_relaxed.owl
MONDO:0012962	biolink:NamedThing	microvascular complications of diabetes, susceptibility to, 2	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene.	DOVES_relaxed.owl
MONDO:0012963	biolink:NamedThing	microvascular complications of diabetes, susceptibility to, 3	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene.	DOVES_relaxed.owl
MONDO:0012966	biolink:NamedThing	microvascular complications of diabetes, susceptibility to, 4	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene.	DOVES_relaxed.owl
MONDO:0012969	biolink:NamedThing	microvascular complications of diabetes, susceptibility to, 5	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene.	DOVES_relaxed.owl
MONDO:0012970	biolink:NamedThing	microvascular complications of diabetes, susceptibility to, 6	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene.	DOVES_relaxed.owl
MONDO:0012971	biolink:NamedThing	microvascular complications of diabetes, susceptibility to, 7	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene.	DOVES_relaxed.owl
MONDO:0011393	biolink:NamedThing	hypoalphalipoproteinemia, primary, 1	Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.	DOVES_relaxed.owl
MONDO:0016191	biolink:NamedThing	qualitative or quantitative defects of titin		DOVES_relaxed.owl
MONDO:0016949	biolink:NamedThing	partial duplication of the short arm of chromosome 16	Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0013273	biolink:NamedThing	chromosome 16p13.3 duplication syndrome	16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems.	DOVES_relaxed.owl
MONDO:0013847	biolink:NamedThing	chromosome 16p11.2 duplication syndrome	Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.	DOVES_relaxed.owl
MONDO:0016834	biolink:NamedThing	16p11.2p12.2 microduplication syndrome	16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.	DOVES_relaxed.owl
MONDO:0016837	biolink:NamedThing	16p13.11 microduplication syndrome	16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.	DOVES_relaxed.owl
MONDO:0011409	biolink:NamedThing	hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection		DOVES_relaxed.owl
MONDO:0011416	biolink:NamedThing	generalized epilepsy with febrile seizures plus, type 1		DOVES_relaxed.owl
MONDO:0012346	biolink:NamedThing	generalized epilepsy with febrile seizures plus, type 4		DOVES_relaxed.owl
MONDO:0012846	biolink:NamedThing	generalized epilepsy with febrile seizures plus, type 6		DOVES_relaxed.owl
MONDO:0013448	biolink:NamedThing	generalized epilepsy with febrile seizures plus, type 8		DOVES_relaxed.owl
MONDO:0013470	biolink:NamedThing	generalized epilepsy with febrile seizures plus, type 7	Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene.	DOVES_relaxed.owl
MONDO:0014517	biolink:NamedThing	generalized epilepsy with febrile seizures plus, type 9	Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.	DOVES_relaxed.owl
MONDO:0032777	biolink:NamedThing	generalized epilepsy with febrile seizures plus, type 10		DOVES_relaxed.owl
MONDO:0020727	biolink:NamedThing	combined oxidative phosphorylation deficiency 22		DOVES_relaxed.owl
MONDO:0027069	biolink:NamedThing	mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1		DOVES_relaxed.owl
MONDO:0032869	biolink:NamedThing	mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6		DOVES_relaxed.owl
MONDO:0016142	biolink:NamedThing	qualitative or quantitative defects of beta-sarcoglycan		DOVES_relaxed.owl
MONDO:0011442	biolink:NamedThing	advanced sleep phase syndrome 1	Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene.	DOVES_relaxed.owl
MONDO:0014088	biolink:NamedThing	advanced sleep phase syndrome 2	Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene.	DOVES_relaxed.owl
MONDO:0014814	biolink:NamedThing	advanced sleep phase syndrome 3	Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene.	DOVES_relaxed.owl
MONDO:0031044	biolink:NamedThing	advance sleep phase syndrome, familial, 4		DOVES_relaxed.owl
MONDO:0011444	biolink:NamedThing	Duane retraction syndrome 2	Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene.	DOVES_relaxed.owl
MONDO:0014880	biolink:NamedThing	Duane retraction syndrome 3 with or without deafness	Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion.	DOVES_relaxed.owl
MONDO:0024265	biolink:NamedThing	Duane syndrome type 1	Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery.	DOVES_relaxed.owl
MONDO:0035337	biolink:NamedThing	Duane retraction syndrome with congenital deafness	A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.	DOVES_relaxed.owl
MONDO:0017917	biolink:NamedThing	maternally-inherited spastic paraplegia	A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.	DOVES_relaxed.owl
MONDO:0011450	biolink:NamedThing	breast-ovarian cancer, familial, susceptibility to, 1	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene.	DOVES_relaxed.owl
MONDO:0012933	biolink:NamedThing	breast-ovarian cancer, familial, susceptibility to, 2	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene.	DOVES_relaxed.owl
MONDO:0013253	biolink:NamedThing	breast-ovarian cancer, familial, susceptibility to, 3	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene.	DOVES_relaxed.owl
MONDO:0013669	biolink:NamedThing	breast-ovarian cancer, familial, susceptibility to, 4	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene.	DOVES_relaxed.owl
MONDO:0011451	biolink:NamedThing	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene.	DOVES_relaxed.owl
MONDO:0014051	biolink:NamedThing	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene.	DOVES_relaxed.owl
MONDO:0014667	biolink:NamedThing	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene.	DOVES_relaxed.owl
MONDO:0014668	biolink:NamedThing	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene.	DOVES_relaxed.owl
MONDO:0011869	biolink:NamedThing	epidermolysis bullosa simplex superficialis	Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters.	DOVES_relaxed.owl
MONDO:0012323	biolink:NamedThing	lethal acantholytic epidermolysis bullosa	Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.	DOVES_relaxed.owl
MONDO:0011484	biolink:NamedThing	catecholaminergic polymorphic ventricular tachycardia 1	Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene.	DOVES_relaxed.owl
MONDO:0012762	biolink:NamedThing	catecholaminergic polymorphic ventricular tachycardia 2	Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.	DOVES_relaxed.owl
MONDO:0013529	biolink:NamedThing	catecholaminergic polymorphic ventricular tachycardia 3	Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene.	DOVES_relaxed.owl
MONDO:0013966	biolink:NamedThing	catecholaminergic polymorphic ventricular tachycardia 4	Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene.	DOVES_relaxed.owl
MONDO:0014191	biolink:NamedThing	catecholaminergic polymorphic ventricular tachycardia 5	Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene.	DOVES_relaxed.owl
MONDO:0800374	biolink:NamedThing	ventricular tachycardia, catecholaminergic polymorphic 6		DOVES_relaxed.owl
MONDO:0011503	biolink:NamedThing	cortisone reductase deficiency 1	Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency.	DOVES_relaxed.owl
MONDO:0013842	biolink:NamedThing	cortisone reductase deficiency 2	Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency.	DOVES_relaxed.owl
MONDO:0011504	biolink:NamedThing	NDE1-related microhydranencephaly	NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.	DOVES_relaxed.owl
MONDO:0019486	biolink:NamedThing	myoclonic epilepsy of infancy		DOVES_relaxed.owl
MONDO:0020180	biolink:NamedThing	palpebral piliary tumor		DOVES_relaxed.owl
MONDO:0020765	biolink:NamedThing	neuropathy, congenital hypomyelinating, 2		DOVES_relaxed.owl
MONDO:0020766	biolink:NamedThing	neuropathy, congenital hypomyelinating, 3		DOVES_relaxed.owl
MONDO:0015976	biolink:NamedThing	hyper-IgM syndrome without susceptibility to opportunistic infections		DOVES_relaxed.owl
MONDO:0011971	biolink:NamedThing	hyper-IgM syndrome type 5	Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.	DOVES_relaxed.owl
MONDO:0011985	biolink:NamedThing	hyper-IgM syndrome type 4	A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation.	DOVES_relaxed.owl
MONDO:0017302	biolink:NamedThing	qualitative or quantitative defects of troponin		DOVES_relaxed.owl
MONDO:0015023	biolink:NamedThing	MYPN-related myopathy	Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.	DOVES_relaxed.owl
MONDO:0016301	biolink:NamedThing	congenitally corrected transposition of the great arteries	Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.	DOVES_relaxed.owl
MONDO:0011548	biolink:NamedThing	cerebral palsy, ataxic, autosomal recessive		DOVES_relaxed.owl
MONDO:0100065	biolink:NamedThing	TH-deficient infantile parkinsonism and motor delay	A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor).	DOVES_relaxed.owl
MONDO:0100066	biolink:NamedThing	TH-deficient progressive infantile encephalopathy	A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias.	DOVES_relaxed.owl
MONDO:0011556	biolink:NamedThing	basal cell carcinoma, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0013101	biolink:NamedThing	basal cell carcinoma, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0013102	biolink:NamedThing	basal cell carcinoma, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0013104	biolink:NamedThing	basal cell carcinoma, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0013105	biolink:NamedThing	basal cell carcinoma, susceptibility to, 5		DOVES_relaxed.owl
MONDO:0013106	biolink:NamedThing	basal cell carcinoma, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0013876	biolink:NamedThing	basal cell carcinoma, susceptibility to, 7	Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene.	DOVES_relaxed.owl
MONDO:0011565	biolink:NamedThing	metabolic syndrome X		DOVES_relaxed.owl
MONDO:0011566	biolink:NamedThing	abdominal obesity-metabolic syndrome quantitative trait locus 2		DOVES_relaxed.owl
MONDO:0014352	biolink:NamedThing	abdominal obesity-metabolic syndrome 3	Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene.	DOVES_relaxed.owl
MONDO:0032837	biolink:NamedThing	abdominal obesity-metabolic syndrome 4		DOVES_relaxed.owl
MONDO:0011571	biolink:NamedThing	deafness, autosomal dominant 39, with dentinogenesis imperfecta 1		DOVES_relaxed.owl
MONDO:0011577	biolink:NamedThing	myopathy, proximal, and ophthalmoplegia		DOVES_relaxed.owl
MONDO:0011580	biolink:NamedThing	cerebellar ataxia and hypergonadotropic hypogonadism		DOVES_relaxed.owl
MONDO:0011582	biolink:NamedThing	multiple mitochondrial dysfunctions syndrome 1	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene.	DOVES_relaxed.owl
MONDO:0013675	biolink:NamedThing	multiple mitochondrial dysfunctions syndrome 2	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.	DOVES_relaxed.owl
MONDO:0014132	biolink:NamedThing	multiple mitochondrial dysfunctions syndrome 3	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.	DOVES_relaxed.owl
MONDO:0033282	biolink:NamedThing	multiple mitochondrial dysfunctions syndrome 5		DOVES_relaxed.owl
MONDO:0054785	biolink:NamedThing	multiple mitochondrial dysfunctions syndrome 6		DOVES_relaxed.owl
MONDO:0011587	biolink:NamedThing	cataract 25	A cataract that has material basis in variation in the region 15q21-q22.	DOVES_relaxed.owl
MONDO:0020372	biolink:NamedThing	early-onset sutural cataract		DOVES_relaxed.owl
MONDO:0011593	biolink:NamedThing	seizures, benign familial infantile, 2		DOVES_relaxed.owl
MONDO:0011904	biolink:NamedThing	seizures, benign familial infantile, 3	Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.	DOVES_relaxed.owl
MONDO:0012965	biolink:NamedThing	seizures, benign familial infantile, 4		DOVES_relaxed.owl
MONDO:0014903	biolink:NamedThing	seizures, benign familial infantile, 5	Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene.	DOVES_relaxed.owl
MONDO:0042499	biolink:NamedThing	benign familial neonatal-infantile seizures 1		DOVES_relaxed.owl
MONDO:0011596	biolink:NamedThing	dermatitis, atopic, 2	An inherited susceptibility or predisposition to developing atopic dermatitis in which the cause of the disease is a mutation in the FLG gene.	DOVES_relaxed.owl
MONDO:0011597	biolink:NamedThing	dermatitis, atopic, 3	An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 20p.	DOVES_relaxed.owl
MONDO:0011598	biolink:NamedThing	dermatitis, atopic, 4	An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 17q25.3.	DOVES_relaxed.owl
MONDO:0011608	biolink:NamedThing	dermatitis, atopic, 5	An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 13q12-q14.	DOVES_relaxed.owl
MONDO:0011609	biolink:NamedThing	dermatitis, atopic, 6	An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 5q31-q33.	DOVES_relaxed.owl
MONDO:0013107	biolink:NamedThing	dermatitis, atopic, 7	An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 11q13.5.	DOVES_relaxed.owl
MONDO:0013294	biolink:NamedThing	dermatitis, atopic, 8	An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 4q22.1.	DOVES_relaxed.owl
MONDO:0013295	biolink:NamedThing	dermatitis, atopic, 9	An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 3p24.	DOVES_relaxed.owl
MONDO:0100181	biolink:NamedThing	dermatitis, atopic, 1	An inherited susceptibility or predisposition to developing atopic dermatitis. A genomewide linkage study revealed highly significant evidence for linkage on 3q21 (ATOD1) at marker D3S3606.	DOVES_relaxed.owl
MONDO:0011599	biolink:NamedThing	birdshot chorioretinopathy	Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.	DOVES_relaxed.owl
MONDO:0019541	biolink:NamedThing	non-infectious posterior uveitis		DOVES_relaxed.owl
MONDO:0018152	biolink:NamedThing	serpiginous choroiditis	Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications.	DOVES_relaxed.owl
MONDO:0011601	biolink:NamedThing	neonatal intrahepatic cholestasis due to citrin deficiency	Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.	DOVES_relaxed.owl
MONDO:0016200	biolink:NamedThing	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase		DOVES_relaxed.owl
MONDO:0011606	biolink:NamedThing	baby rattle pelvis dysplasia		DOVES_relaxed.owl
MONDO:0042975	biolink:NamedThing	pseudoachondroplastic dysplasia 2		DOVES_relaxed.owl
MONDO:0011607	biolink:NamedThing	narcolepsy 2, susceptibility to		DOVES_relaxed.owl
MONDO:0012898	biolink:NamedThing	narcolepsy 4, susceptibility to		DOVES_relaxed.owl
MONDO:0013020	biolink:NamedThing	narcolepsy 5, susceptibility to		DOVES_relaxed.owl
MONDO:0013639	biolink:NamedThing	narcolepsy 6, susceptibility to		DOVES_relaxed.owl
MONDO:0011652	biolink:NamedThing	Phelan-McDermid syndrome	Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.	DOVES_relaxed.owl
MONDO:0012708	biolink:NamedThing	primary lateral sclerosis, adult, 1		DOVES_relaxed.owl
MONDO:0018246	biolink:NamedThing	homozygous 2p21 microdeletion syndrome		DOVES_relaxed.owl
MONDO:0018245	biolink:NamedThing	2p21 microdeletion syndrome without cystinuria	2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.	DOVES_relaxed.owl
MONDO:0011674	biolink:NamedThing	Charcot-Marie-Tooth disease dominant intermediate B	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.	DOVES_relaxed.owl
MONDO:0011675	biolink:NamedThing	Charcot-Marie-Tooth Disease, axonal, type 2GG	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.	DOVES_relaxed.owl
MONDO:0012012	biolink:NamedThing	Charcot-Marie-Tooth disease dominant intermediate C	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.	DOVES_relaxed.owl
MONDO:0013758	biolink:NamedThing	Charcot-Marie-Tooth disease dominant intermediate E	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown.	DOVES_relaxed.owl
MONDO:0014074	biolink:NamedThing	Charcot-Marie-Tooth disease dominant intermediate F	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.	DOVES_relaxed.owl
MONDO:0017937	biolink:NamedThing	autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain		DOVES_relaxed.owl
MONDO:0012138	biolink:NamedThing	muscular dystrophy-dystroglycanopathy type B6	A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.	DOVES_relaxed.owl
MONDO:0013160	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2	An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan.	DOVES_relaxed.owl
MONDO:0014141	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14		DOVES_relaxed.owl
MONDO:0033556	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15		DOVES_relaxed.owl
MONDO:0011695	biolink:NamedThing	melanoma, uveal, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0011696	biolink:NamedThing	melanoma, uveal, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0011698	biolink:NamedThing	glycine N-methyltransferase deficiency	Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases.	DOVES_relaxed.owl
MONDO:0013404	biolink:NamedThing	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.	DOVES_relaxed.owl
MONDO:0014231	biolink:NamedThing	juvenile onset Parkinson disease 19A	Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene.	DOVES_relaxed.owl
MONDO:0800369	biolink:NamedThing	parkinson disease 19B, early-onset		DOVES_relaxed.owl
MONDO:0011710	biolink:NamedThing	specific language impairment 1		DOVES_relaxed.owl
MONDO:0011711	biolink:NamedThing	specific language impairment 2		DOVES_relaxed.owl
MONDO:0011780	biolink:NamedThing	specific language impairment 3		DOVES_relaxed.owl
MONDO:0012917	biolink:NamedThing	specific language impairment 4		DOVES_relaxed.owl
MONDO:0014184	biolink:NamedThing	specific language impairment 5	A communication disorder that involves the processing of linguistic information.	DOVES_relaxed.owl
MONDO:0011716	biolink:NamedThing	acute hemorrhagic leukoencephalitis	Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL.	DOVES_relaxed.owl
MONDO:0035669	biolink:NamedThing	acute disseminated encephalomyelitis with anti-MOG antibodies		DOVES_relaxed.owl
MONDO:0035670	biolink:NamedThing	acute disseminated encephalomyelitis without anti-MOG antibodies		DOVES_relaxed.owl
MONDO:0011724	biolink:NamedThing	encephalopathy due to GLUT1 deficiency	Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.	DOVES_relaxed.owl
MONDO:0011725	biolink:NamedThing	Crigler-Najjar syndrome type 2	Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1.	DOVES_relaxed.owl
MONDO:0021020	biolink:NamedThing	Crigler-Najjar syndrome type 1	Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).	DOVES_relaxed.owl
MONDO:0011738	biolink:NamedThing	bilateral frontoparietal polymicrogyria	Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.	DOVES_relaxed.owl
MONDO:0017091	biolink:NamedThing	bilateral polymicrogyria	Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.	DOVES_relaxed.owl
MONDO:0012986	biolink:NamedThing	bilateral parasagittal parieto-occipital polymicrogyria		DOVES_relaxed.owl
MONDO:0013907	biolink:NamedThing	bilateral generalized polymicrogyria	Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0016162	biolink:NamedThing	bilateral frontal polymicrogyria	Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0011749	biolink:NamedThing	oculocutaneous albinism type 1B	Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.	DOVES_relaxed.owl
MONDO:0011754	biolink:NamedThing	familial hyperreninemic hypoaldosteronism type 2		DOVES_relaxed.owl
MONDO:0018541	biolink:NamedThing	familial hypoaldosteronism	Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).	DOVES_relaxed.owl
MONDO:0035320	biolink:NamedThing	early-onset familial hypoaldosteronism	A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.	DOVES_relaxed.owl
MONDO:0035321	biolink:NamedThing	late-onset familial hypoaldosteronism	A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.	DOVES_relaxed.owl
MONDO:0011800	biolink:NamedThing	glioma susceptibility 4		DOVES_relaxed.owl
MONDO:0013092	biolink:NamedThing	glioma susceptibility 2	Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene.	DOVES_relaxed.owl
MONDO:0013093	biolink:NamedThing	glioma susceptibility 3	Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene.	DOVES_relaxed.owl
MONDO:0013094	biolink:NamedThing	glioma susceptibility 5		DOVES_relaxed.owl
MONDO:0013095	biolink:NamedThing	glioma susceptibility 6		DOVES_relaxed.owl
MONDO:0013096	biolink:NamedThing	glioma susceptibility 7		DOVES_relaxed.owl
MONDO:0013097	biolink:NamedThing	glioma susceptibility 8		DOVES_relaxed.owl
MONDO:0014695	biolink:NamedThing	glioma susceptibility 9	Any malignant glioma in which the cause of the disease is a mutation in the POT1 gene.	DOVES_relaxed.owl
MONDO:0024498	biolink:NamedThing	glioma susceptibility 1		DOVES_relaxed.owl
MONDO:0020770	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3		DOVES_relaxed.owl
MONDO:0011805	biolink:NamedThing	asthma-related traits, susceptibility to, 1	Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene.	DOVES_relaxed.owl
MONDO:0012067	biolink:NamedThing	asthma-related traits, susceptibility to, 2	Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene.	DOVES_relaxed.owl
MONDO:0012379	biolink:NamedThing	asthma-related traits, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0012577	biolink:NamedThing	asthma-related traits, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0012607	biolink:NamedThing	asthma-related traits, susceptibility to, 5	Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene.	DOVES_relaxed.owl
MONDO:0012666	biolink:NamedThing	asthma-related traits, susceptibility to, 6		DOVES_relaxed.owl
MONDO:0012771	biolink:NamedThing	asthma-related traits, susceptibility to, 7	Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene.	DOVES_relaxed.owl
MONDO:0013180	biolink:NamedThing	asthma-related traits, susceptibility to, 8		DOVES_relaxed.owl
MONDO:0800415	biolink:NamedThing	asthma, aspirin-induced, susceptibility to		DOVES_relaxed.owl
MONDO:0011814	biolink:NamedThing	Smith-McCort dysplasia 1	Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.	DOVES_relaxed.owl
MONDO:0014087	biolink:NamedThing	Smith-McCort dysplasia 2	Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.	DOVES_relaxed.owl
MONDO:0011818	biolink:NamedThing	isolated focal cortical dysplasia type II		DOVES_relaxed.owl
MONDO:0017095	biolink:NamedThing	isolated focal cortical dysplasia type I		DOVES_relaxed.owl
MONDO:0011822	biolink:NamedThing	Bartter disease type 3	Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.	DOVES_relaxed.owl
MONDO:0016983	biolink:NamedThing	Bartter syndrome with hypocalcemia	Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)	DOVES_relaxed.owl
MONDO:0011829	biolink:NamedThing	coenzyme Q10 deficiency, primary, 1	Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.	DOVES_relaxed.owl
MONDO:0013838	biolink:NamedThing	coenzyme Q10 deficiency, primary, 3	Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.	DOVES_relaxed.owl
MONDO:0016644	biolink:NamedThing	logopenic progressive aphasia	Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.	DOVES_relaxed.owl
MONDO:0011857	biolink:NamedThing	atrial fibrillation, familial, 3	Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene.	DOVES_relaxed.owl
MONDO:0012066	biolink:NamedThing	atrial fibrillation, familial, 1		DOVES_relaxed.owl
MONDO:0012167	biolink:NamedThing	atrial fibrillation, familial, 2		DOVES_relaxed.owl
MONDO:0012677	biolink:NamedThing	atrial fibrillation, familial, 4	Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene.	DOVES_relaxed.owl
MONDO:0012678	biolink:NamedThing	atrial fibrillation, familial, 5		DOVES_relaxed.owl
MONDO:0012816	biolink:NamedThing	atrial fibrillation, familial, 6	Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene.	DOVES_relaxed.owl
MONDO:0012828	biolink:NamedThing	atrial fibrillation, familial, 7	Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene.	DOVES_relaxed.owl
MONDO:0013100	biolink:NamedThing	atrial fibrillation, familial, 8		DOVES_relaxed.owl
MONDO:0013513	biolink:NamedThing	atrial fibrillation, familial, 9	Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene.	DOVES_relaxed.owl
MONDO:0013530	biolink:NamedThing	atrial fibrillation, familial, 10	Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene.	DOVES_relaxed.owl
MONDO:0013544	biolink:NamedThing	atrial fibrillation, familial, 11	Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene.	DOVES_relaxed.owl
MONDO:0013545	biolink:NamedThing	atrial fibrillation, familial, 12	Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene.	DOVES_relaxed.owl
MONDO:0014155	biolink:NamedThing	atrial fibrillation, familial, 13	Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene.	DOVES_relaxed.owl
MONDO:0014156	biolink:NamedThing	atrial fibrillation, familial, 14	Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene.	DOVES_relaxed.owl
MONDO:0014340	biolink:NamedThing	atrial fibrillation, familial, 15	Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene.	DOVES_relaxed.owl
MONDO:0015001	biolink:NamedThing	atrial fibrillation, familial, 18	Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene.	DOVES_relaxed.owl
MONDO:0800345	biolink:NamedThing	atrial fibrillation, familial, 17		DOVES_relaxed.owl
MONDO:0800349	biolink:NamedThing	atrial fibrillation, familial, 16		DOVES_relaxed.owl
MONDO:0011866	biolink:NamedThing	pontocerebellar hypoplasia type 1A	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.	DOVES_relaxed.owl
MONDO:0013853	biolink:NamedThing	pontocerebellar hypoplasia type 1B	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.	DOVES_relaxed.owl
MONDO:0014485	biolink:NamedThing	pontocerebellar hypoplasia, type 1C	Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.	DOVES_relaxed.owl
MONDO:0011870	biolink:NamedThing	annular epidermolytic ichthyosis	Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.	DOVES_relaxed.owl
MONDO:0018647	biolink:NamedThing	secondary sclerosing cholangitis		DOVES_relaxed.owl
MONDO:0011881	biolink:NamedThing	keratosis palmoplantaris striata 3	Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene.	DOVES_relaxed.owl
MONDO:0013034	biolink:NamedThing	keratosis palmoplantaris striata 2	Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene.	DOVES_relaxed.owl
MONDO:0018008	biolink:NamedThing	idiopathic giant cell myocarditis		DOVES_relaxed.owl
MONDO:0011908	biolink:NamedThing	juvenile myelomonocytic leukemia	A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)	DOVES_relaxed.owl
MONDO:0011914	biolink:NamedThing	hypotrichosis-lymphedema-telangiectasia syndrome		DOVES_relaxed.owl
MONDO:0019073	biolink:NamedThing	hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		DOVES_relaxed.owl
MONDO:0011915	biolink:NamedThing	mitral valve prolapse, myxomatous 2		DOVES_relaxed.owl
MONDO:0012569	biolink:NamedThing	mitral valve prolapse, myxomatous 3		DOVES_relaxed.owl
MONDO:0024529	biolink:NamedThing	MVP1		DOVES_relaxed.owl
MONDO:0011929	biolink:NamedThing	chromosome 1p36 deletion syndrome	A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.	DOVES_relaxed.owl
MONDO:0016883	biolink:NamedThing	partial deletion of the short arm of chromosome 1	Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0017405	biolink:NamedThing	1p21.3 microdeletion syndrome	1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.	DOVES_relaxed.owl
MONDO:0013746	biolink:NamedThing	ventricular septal defect 1	Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.	DOVES_relaxed.owl
MONDO:0022397	biolink:NamedThing	retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene		DOVES_relaxed.owl
MONDO:0022400	biolink:NamedThing	retinal ciliopathy due to mutation in the RPGRIP gene		DOVES_relaxed.owl
MONDO:0022404	biolink:NamedThing	retinal ciliopathy due to mutation in Usher gene		DOVES_relaxed.owl
MONDO:0022405	biolink:NamedThing	retinal ciliopathy due to mutation in nephronophthisis gene		DOVES_relaxed.owl
MONDO:0022407	biolink:NamedThing	retinal ciliopathy due to mutation in Bardet-Biedl gene		DOVES_relaxed.owl
MONDO:0016141	biolink:NamedThing	qualitative or quantitative defects of alpha-sarcoglycan		DOVES_relaxed.owl
MONDO:0011975	biolink:NamedThing	paternal uniparental disomy of chromosome 14		DOVES_relaxed.owl
MONDO:0016781	biolink:NamedThing	maternal 14q32.2 microdeletion syndrome		DOVES_relaxed.owl
MONDO:0016783	biolink:NamedThing	maternal 14q32.2 hypermethylation syndrome		DOVES_relaxed.owl
MONDO:0700021	biolink:NamedThing	chromosome 14 disorder	Chromosomal disorder in which chromosome 14 is affected.	DOVES_relaxed.owl
MONDO:0019915	biolink:NamedThing	maternal uniparental disomy of chromosome 14	Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).	DOVES_relaxed.owl
MONDO:0016650	biolink:NamedThing	paternal uniparental disomy of chromosome 1	Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	DOVES_relaxed.owl
MONDO:0016651	biolink:NamedThing	maternal uniparental disomy of chromosome 1	Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	DOVES_relaxed.owl
MONDO:0018007	biolink:NamedThing	mosaic genome-wide paternal uniparental disomy		DOVES_relaxed.owl
MONDO:0019910	biolink:NamedThing	maternal uniparental disomy of chromosome 2	Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	DOVES_relaxed.owl
MONDO:0019911	biolink:NamedThing	maternal uniparental disomy of chromosome 4	Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	DOVES_relaxed.owl
MONDO:0019912	biolink:NamedThing	maternal uniparental disomy of chromosome 6	Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.	DOVES_relaxed.owl
MONDO:0019914	biolink:NamedThing	maternal uniparental disomy of chromosome 9	Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	DOVES_relaxed.owl
MONDO:0019917	biolink:NamedThing	maternal uniparental disomy of chromosome 20	Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.	DOVES_relaxed.owl
MONDO:0019919	biolink:NamedThing	maternal uniparental disomy of chromosome 22		DOVES_relaxed.owl
MONDO:0019920	biolink:NamedThing	paternal uniparental disomy of chromosome 5	Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	DOVES_relaxed.owl
MONDO:0019921	biolink:NamedThing	paternal uniparental disomy of chromosome 6	Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.	DOVES_relaxed.owl
MONDO:0019922	biolink:NamedThing	paternal uniparental disomy of chromosome 7	Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).	DOVES_relaxed.owl
MONDO:0019923	biolink:NamedThing	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11		DOVES_relaxed.owl
MONDO:0019924	biolink:NamedThing	paternal uniparental disomy of chromosome 20	Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.	DOVES_relaxed.owl
MONDO:0019994	biolink:NamedThing	maternal uniparental disomy of chromosome 13	Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	DOVES_relaxed.owl
MONDO:0020298	biolink:NamedThing	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		DOVES_relaxed.owl
MONDO:0020303	biolink:NamedThing	Angelman syndrome due to paternal uniparental disomy of chromosome 15		DOVES_relaxed.owl
MONDO:0020468	biolink:NamedThing	paternal uniparental disomy of chromosome 13	Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	DOVES_relaxed.owl
MONDO:0011986	biolink:NamedThing	tropical pancreatitis	Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.	DOVES_relaxed.owl
MONDO:0013559	biolink:NamedThing	Hermansky-Pudlak syndrome 7	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.	DOVES_relaxed.owl
MONDO:0013560	biolink:NamedThing	Hermansky-Pudlak syndrome 8	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.	DOVES_relaxed.owl
MONDO:0014885	biolink:NamedThing	Hermansky-Pudlak syndrome 10	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.	DOVES_relaxed.owl
MONDO:0016502	biolink:NamedThing	Hermansky-Pudlak syndrome without pulmonary fibrosis	Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.	DOVES_relaxed.owl
MONDO:0023563	biolink:NamedThing	Kotzot-Richter syndrome		DOVES_relaxed.owl
MONDO:0030903	biolink:NamedThing	Hermansky-Pudlak syndrome 11		DOVES_relaxed.owl
MONDO:0013338	biolink:NamedThing	Charcot-Marie-Tooth disease recessive intermediate B	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.	DOVES_relaxed.owl
MONDO:0014154	biolink:NamedThing	Charcot-Marie-Tooth disease recessive intermediate C	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.	DOVES_relaxed.owl
MONDO:0017178	biolink:NamedThing	osteochondritis dissecans	A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.	DOVES_relaxed.owl
MONDO:0018566	biolink:NamedThing	short stature-advanced bone age-early-onset osteoarthritis syndrome		DOVES_relaxed.owl
MONDO:0100462	biolink:NamedThing	short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.	DOVES_relaxed.owl
MONDO:0012020	biolink:NamedThing	chromosome 22q11.2 microduplication syndrome	The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome.	DOVES_relaxed.owl
MONDO:0016972	biolink:NamedThing	partial duplication of the long arm of chromosome 22		DOVES_relaxed.owl
MONDO:0014235	biolink:NamedThing	chromosome 22q13 duplication syndrome		DOVES_relaxed.owl
MONDO:0019889	biolink:NamedThing	distal trisomy 22q	Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.	DOVES_relaxed.owl
MONDO:0012029	biolink:NamedThing	microcephaly 6, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene.	DOVES_relaxed.owl
MONDO:0013024	biolink:NamedThing	chronic thromboembolic pulmonary hypertension	Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure.	DOVES_relaxed.owl
MONDO:0017157	biolink:NamedThing	pulmonary hypertension owing to lung disease and/or hypoxia		DOVES_relaxed.owl
MONDO:0100159	biolink:NamedThing	pulmonary hypertension, neonatal	Abnormally high blood pressure in a newborn child.	DOVES_relaxed.owl
MONDO:0012033	biolink:NamedThing	bradyopsia	Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.	DOVES_relaxed.owl
MONDO:0015807	biolink:NamedThing	myopic macular degeneration		DOVES_relaxed.owl
MONDO:0012034	biolink:NamedThing	autosomal dominant limb-girdle muscular dystrophy type 1F	Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.	DOVES_relaxed.owl
MONDO:0012193	biolink:NamedThing	autosomal dominant limb-girdle muscular dystrophy type 1G	Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.	DOVES_relaxed.owl
MONDO:0013297	biolink:NamedThing	autosomal dominant limb-girdle muscular dystrophy type 1H	Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.	DOVES_relaxed.owl
MONDO:0021018	biolink:NamedThing	autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3.	DOVES_relaxed.owl
MONDO:0021569	biolink:NamedThing	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.	DOVES_relaxed.owl
MONDO:0029133	biolink:NamedThing	muscular dystrophy, limb-girdle, autosomal dominant 4		DOVES_relaxed.owl
MONDO:0016362	biolink:NamedThing	attenuated familial adenomatous polyposis	Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features.	DOVES_relaxed.owl
MONDO:0014630	biolink:NamedThing	familial adenomatous polyposis 3		DOVES_relaxed.owl
MONDO:0018426	biolink:NamedThing	AXIN2-related attenuated familial adenomatous polyposis		DOVES_relaxed.owl
MONDO:0018653	biolink:NamedThing	Polymerase proofreading-related adenomatous polyposis		DOVES_relaxed.owl
MONDO:0018812	biolink:NamedThing	MSH3-related attenuated familial adenomatous polyposis		DOVES_relaxed.owl
MONDO:0021056	biolink:NamedThing	familial adenomatous polyposis 1	Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene.	DOVES_relaxed.owl
MONDO:0044300	biolink:NamedThing	familial adenomatous polyposis 4	Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).nnFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM:175100).	DOVES_relaxed.owl
MONDO:0021055	biolink:NamedThing	classic familial adenomatous polyposis	Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.	DOVES_relaxed.owl
MONDO:0016965	biolink:NamedThing	partial duplication of the long arm of chromosome 15	Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0027767	biolink:NamedThing	partial lipodystrophy	Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.	DOVES_relaxed.owl
MONDO:0015492	biolink:NamedThing	Anti-neutrophil cytoplasmic antibody-associated vasculitis	Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.	DOVES_relaxed.owl
MONDO:0100495	biolink:NamedThing	autosomal recessive distal titinopathy	A rare myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs. Described as a more severe tibial muscular dystrophy phenotype, distal titinopathy is associated with earlier onset and progression to include soleus muscle and proximal muscles.	DOVES_relaxed.owl
MONDO:0100496	biolink:NamedThing	Emery-Dreifuss-like muscular dystrophy	A rare inherited muscular dystrophy characterized by the coexistence of limb-girdle weakness and early-onset diffuse joint contractures without cardiomyopathy.	DOVES_relaxed.owl
MONDO:0100497	biolink:NamedThing	titinopathy with congenital contractures	A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities.	DOVES_relaxed.owl
MONDO:0012128	biolink:NamedThing	transposition of the great arteries, dextro-looped	Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene.	DOVES_relaxed.owl
MONDO:0013463	biolink:NamedThing	congenital heart defects, multiple types, 6	Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene.	DOVES_relaxed.owl
MONDO:0016302	biolink:NamedThing	isolated congenitally uncorrected transposition of the great arteries		DOVES_relaxed.owl
MONDO:0016303	biolink:NamedThing	congenitally uncorrected transposition of the great arteries with cardiac malformation		DOVES_relaxed.owl
MONDO:0020385	biolink:NamedThing	congenitally uncorrected transposition of the great arteries with coarctation		DOVES_relaxed.owl
MONDO:0018779	biolink:NamedThing	hypercontractile muscle stiffness syndrome		DOVES_relaxed.owl
MONDO:0015420	biolink:NamedThing	cleft lip and alveolus	Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.	DOVES_relaxed.owl
MONDO:0012156	biolink:NamedThing	myasthenic syndrome, congenital, 1B, fast-channel	A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.	DOVES_relaxed.owl
MONDO:0100312	biolink:NamedThing	vestibular ataxia	Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction.	DOVES_relaxed.owl
MONDO:0012177	biolink:NamedThing	posterior column ataxia-retinitis pigmentosa syndrome	Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.	DOVES_relaxed.owl
MONDO:0012436	biolink:NamedThing	neonatal diabetes mellitus with congenital hypothyroidism	A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others	DOVES_relaxed.owl
MONDO:0012202	biolink:NamedThing	malaria, mild, susceptibility to		DOVES_relaxed.owl
MONDO:0014835	biolink:NamedThing	striatal degeneration, autosomal dominant 2	Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene.	DOVES_relaxed.owl
MONDO:0030500	biolink:NamedThing	Loeys-Dietz syndrome 6		DOVES_relaxed.owl
MONDO:0016201	biolink:NamedThing	qualitative or quantitative defects of myotilin		DOVES_relaxed.owl
MONDO:0012221	biolink:NamedThing	alpha-N-acetylgalactosaminidase deficiency type 1	Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.	DOVES_relaxed.owl
MONDO:0012222	biolink:NamedThing	alpha-N-acetylgalactosaminidase deficiency type 2	Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.	DOVES_relaxed.owl
MONDO:0019264	biolink:NamedThing	alpha-N-acetylgalactosaminidase deficiency type 3	Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.	DOVES_relaxed.owl
MONDO:0012238	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene.	DOVES_relaxed.owl
MONDO:0012241	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene.	DOVES_relaxed.owl
MONDO:0012415	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.	DOVES_relaxed.owl
MONDO:0013117	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene.	DOVES_relaxed.owl
MONDO:0024528	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.	DOVES_relaxed.owl
MONDO:0012252	biolink:NamedThing	rhabdoid tumor predisposition syndrome 1	Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene.	DOVES_relaxed.owl
MONDO:0013224	biolink:NamedThing	rhabdoid tumor predisposition syndrome 2	Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene.	DOVES_relaxed.owl
MONDO:0700125	biolink:NamedThing	chromosome 18 disorder	Chromosomal disorder in which chromosome 18 is affected.	DOVES_relaxed.owl
MONDO:0015434	biolink:NamedThing	ring chromosome 18	Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.	DOVES_relaxed.owl
MONDO:0016936	biolink:NamedThing	partial trisomy/tetrasomy of chromosome 18	A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18.	DOVES_relaxed.owl
MONDO:0022755	biolink:NamedThing	chromosome 18 mosaic monosomy		DOVES_relaxed.owl
MONDO:0012256	biolink:NamedThing	hereditary spastic paraplegia 28	Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.	DOVES_relaxed.owl
MONDO:0014302	biolink:NamedThing	hereditary spastic paraplegia 62	Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.	DOVES_relaxed.owl
MONDO:0018423	biolink:NamedThing	autosomal recessive spastic paraplegia type 71		DOVES_relaxed.owl
MONDO:0012269	biolink:NamedThing	chromosome 3q29 microdeletion syndrome	3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.	DOVES_relaxed.owl
MONDO:0016902	biolink:NamedThing	partial deletion of the long arm of chromosome 3		DOVES_relaxed.owl
MONDO:0014185	biolink:NamedThing	chromosome 3q13.31 deletion syndrome	3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.	DOVES_relaxed.owl
MONDO:0016857	biolink:NamedThing	blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome	Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.	DOVES_relaxed.owl
MONDO:0018156	biolink:NamedThing	3q26q27 microdeletion syndrome		DOVES_relaxed.owl
MONDO:0018263	biolink:NamedThing	fetal carbamazepine syndrome	A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.	DOVES_relaxed.owl
MONDO:0016190	biolink:NamedThing	qualitative or quantitative defects of protein ZASP		DOVES_relaxed.owl
MONDO:0012286	biolink:NamedThing	myopathy, autophagic vacuolar, infantile-onset		DOVES_relaxed.owl
MONDO:0012287	biolink:NamedThing	Stickler syndrome, type I, nonsyndromic ocular		DOVES_relaxed.owl
MONDO:0016189	biolink:NamedThing	qualitative or quantitative defects of filamin C		DOVES_relaxed.owl
MONDO:0012297	biolink:NamedThing	SPOAN syndrome	A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.	DOVES_relaxed.owl
MONDO:0014295	biolink:NamedThing	hereditary spastic paraplegia 57	An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.	DOVES_relaxed.owl
MONDO:0014644	biolink:NamedThing	hereditary spastic paraplegia 74	Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.	DOVES_relaxed.owl
MONDO:0012312	biolink:NamedThing	short QT syndrome type 1	Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene.	DOVES_relaxed.owl
MONDO:0012313	biolink:NamedThing	short QT syndrome type 2	Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.	DOVES_relaxed.owl
MONDO:0012314	biolink:NamedThing	short QT syndrome type 3	Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene.	DOVES_relaxed.owl
MONDO:0012315	biolink:NamedThing	distal 10q deletion syndrome	Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.	DOVES_relaxed.owl
MONDO:0016909	biolink:NamedThing	partial monosomy of the long arm of chromosome 10		DOVES_relaxed.owl
MONDO:0012830	biolink:NamedThing	chromosome 10q23 deletion syndrome	10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.	DOVES_relaxed.owl
MONDO:0015546	biolink:NamedThing	non-distal monosomy 10q	Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.	DOVES_relaxed.owl
MONDO:0013272	biolink:NamedThing	chromosome 14q11-q22 deletion syndrome	14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0016780	biolink:NamedThing	paternal 14q32.2 microdeletion syndrome		DOVES_relaxed.owl
MONDO:0016833	biolink:NamedThing	14q12 microdeletion syndrome	14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.	DOVES_relaxed.owl
MONDO:0019898	biolink:NamedThing	distal monosomy 14q	Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.	DOVES_relaxed.owl
MONDO:0016958	biolink:NamedThing	partial duplication of the long arm of chromosome 7	Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0012343	biolink:NamedThing	aortic aneurysm, familial abdominal, 2		DOVES_relaxed.owl
MONDO:0012751	biolink:NamedThing	aortic aneurysm, familial abdominal, 3		DOVES_relaxed.owl
MONDO:0013716	biolink:NamedThing	aortic aneurysm, familial abdominal, 4		DOVES_relaxed.owl
MONDO:0024521	biolink:NamedThing	aortic aneurysm, familial abdominal, 1		DOVES_relaxed.owl
MONDO:0018159	biolink:NamedThing	atypical hemolytic-uremic syndrome with DGKE deficiency		DOVES_relaxed.owl
MONDO:0019738	biolink:NamedThing	atypical hemolytic-uremic syndrome with H factor anomaly		DOVES_relaxed.owl
MONDO:0019739	biolink:NamedThing	atypical hemolytic-uremic syndrome with anti-factor H antibodies		DOVES_relaxed.owl
MONDO:0035290	biolink:NamedThing	atypical hemolytic uremic syndrome with complement gene abnormality		DOVES_relaxed.owl
MONDO:0013892	biolink:NamedThing	C3 glomerulonephritis	Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease.	DOVES_relaxed.owl
MONDO:0019736	biolink:NamedThing	dense deposit disease	Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen.	DOVES_relaxed.owl
MONDO:0012351	biolink:NamedThing	zygodactyly type 1		DOVES_relaxed.owl
MONDO:0017543	biolink:NamedThing	zygodactyly type 2		DOVES_relaxed.owl
MONDO:0017544	biolink:NamedThing	zygodactyly type 3		DOVES_relaxed.owl
MONDO:0017545	biolink:NamedThing	zygodactyly type 4		DOVES_relaxed.owl
MONDO:0012353	biolink:NamedThing	erythrocytosis, familial, 3	Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.	DOVES_relaxed.owl
MONDO:0012729	biolink:NamedThing	erythrocytosis, familial, 4	Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.	DOVES_relaxed.owl
MONDO:0019995	biolink:NamedThing	peripheral resistance to thyroid hormones	Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.	DOVES_relaxed.owl
MONDO:0012381	biolink:NamedThing	hyperinsulinism due to INSR deficiency	Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.	DOVES_relaxed.owl
MONDO:0017189	biolink:NamedThing	adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia	Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide	DOVES_relaxed.owl
MONDO:0012393	biolink:NamedThing	congenital brain dysgenesis due to glutamine synthetase deficiency		DOVES_relaxed.owl
MONDO:0600001	biolink:NamedThing	glutaminase deficiency	Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene.	DOVES_relaxed.owl
MONDO:0013172	biolink:NamedThing	polymicrogyria with optic nerve hypoplasia	A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.	DOVES_relaxed.owl
MONDO:0013541	biolink:NamedThing	complex cortical dysplasia with other brain malformations 1	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene.	DOVES_relaxed.owl
MONDO:0014116	biolink:NamedThing	complex cortical dysplasia with other brain malformations 2	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene.	DOVES_relaxed.owl
MONDO:0014170	biolink:NamedThing	complex cortical dysplasia with other brain malformations 3	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene.	DOVES_relaxed.owl
MONDO:0014171	biolink:NamedThing	complex cortical dysplasia with other brain malformations 4	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.	DOVES_relaxed.owl
MONDO:0014337	biolink:NamedThing	complex cortical dysplasia with other brain malformations 5	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene.	DOVES_relaxed.owl
MONDO:0014341	biolink:NamedThing	complex cortical dysplasia with other brain malformations 6	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene.	DOVES_relaxed.owl
MONDO:0032578	biolink:NamedThing	cortical dysplasia, complex, with other brain malformations 9		DOVES_relaxed.owl
MONDO:0032866	biolink:NamedThing	cortical dysplasia, complex, with other brain malformations 10		DOVES_relaxed.owl
MONDO:0013690	biolink:NamedThing	Pitt-Hopkins-like syndrome 2	Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.	DOVES_relaxed.owl
MONDO:0012405	biolink:NamedThing	polyposis syndrome, hereditary mixed, 2	Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene.	DOVES_relaxed.owl
MONDO:0042486	biolink:NamedThing	polyposis syndrome, hereditary mixed, 1		DOVES_relaxed.owl
MONDO:0012426	biolink:NamedThing	immunodeficiency 25	Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.	DOVES_relaxed.owl
MONDO:0012430	biolink:NamedThing	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene.	DOVES_relaxed.owl
MONDO:0013188	biolink:NamedThing	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3	Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene.	DOVES_relaxed.owl
MONDO:0014104	biolink:NamedThing	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene.	DOVES_relaxed.owl
MONDO:0024542	biolink:NamedThing	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene.	DOVES_relaxed.owl
MONDO:0012439	biolink:NamedThing	Alagille syndrome due to a NOTCH2 point mutation		DOVES_relaxed.owl
MONDO:0016861	biolink:NamedThing	Alagille syndrome due to 20p12 microdeletion		DOVES_relaxed.owl
MONDO:0016862	biolink:NamedThing	Alagille syndrome due to a JAG1 point mutation		DOVES_relaxed.owl
MONDO:0012444	biolink:NamedThing	neurodegeneration with brain iron accumulation 2B		DOVES_relaxed.owl
MONDO:0013634	biolink:NamedThing	neuropathy, hereditary sensory, type 2C	Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene.	DOVES_relaxed.owl
MONDO:0030335	biolink:NamedThing	diarrhea 12, with microvillus atrophy		DOVES_relaxed.owl
MONDO:0032575	biolink:NamedThing	diarrhea 9		DOVES_relaxed.owl
MONDO:0032586	biolink:NamedThing	diarrhea 10, protein-losing enteropathy type		DOVES_relaxed.owl
MONDO:0032857	biolink:NamedThing	diarrhea 11, malabsorptive, congenital		DOVES_relaxed.owl
MONDO:0012487	biolink:NamedThing	alopecia-intellectual disability syndrome 2		DOVES_relaxed.owl
MONDO:0013492	biolink:NamedThing	alopecia-intellectual disability syndrome 3		DOVES_relaxed.owl
MONDO:0021035	biolink:NamedThing	alopecia-intellectual disability syndrome 1		DOVES_relaxed.owl
MONDO:0030009	biolink:NamedThing	alopecia-intellectual disability syndrome 4		DOVES_relaxed.owl
MONDO:0012491	biolink:NamedThing	macroglobulinemia, Waldenstrom, 2		DOVES_relaxed.owl
MONDO:0100281	biolink:NamedThing	macroglobulinemia, Waldenstrom, 1		DOVES_relaxed.owl
MONDO:0012500	biolink:NamedThing	chilblain lupus 1	Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene.	DOVES_relaxed.owl
MONDO:0013739	biolink:NamedThing	chilblain lupus 2	Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.	DOVES_relaxed.owl
MONDO:0012502	biolink:NamedThing	normophosphatemic familial tumoral calcinosis		DOVES_relaxed.owl
MONDO:0100251	biolink:NamedThing	familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome		DOVES_relaxed.owl
MONDO:0012503	biolink:NamedThing	thiopurine S-methyltransferase deficiency	An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.	DOVES_relaxed.owl
MONDO:0012505	biolink:NamedThing	pigmented nodular adrenocortical disease, primary, 2	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.	DOVES_relaxed.owl
MONDO:0012509	biolink:NamedThing	pigmented nodular adrenocortical disease, primary, 1	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene.	DOVES_relaxed.owl
MONDO:0013616	biolink:NamedThing	pigmented nodular adrenocortical disease, primary, 3	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene.	DOVES_relaxed.owl
MONDO:0014359	biolink:NamedThing	pigmented nodular adrenocortical disease, primary, 4	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene.	DOVES_relaxed.owl
MONDO:0018967	biolink:NamedThing	short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia		DOVES_relaxed.owl
MONDO:0012518	biolink:NamedThing	congenital myasthenic syndrome 12	Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene.	DOVES_relaxed.owl
MONDO:0013883	biolink:NamedThing	congenital myasthenic syndrome 13	Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.	DOVES_relaxed.owl
MONDO:0014543	biolink:NamedThing	congenital myasthenic syndrome 14	Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.	DOVES_relaxed.owl
MONDO:0014542	biolink:NamedThing	congenital myasthenic syndrome 15	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene.	DOVES_relaxed.owl
MONDO:0012519	biolink:NamedThing	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.	DOVES_relaxed.owl
MONDO:0012526	biolink:NamedThing	hereditary angioedema type 3	Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	DOVES_relaxed.owl
MONDO:0033947	biolink:NamedThing	hereditary angioedema with normal C1Inh		DOVES_relaxed.owl
MONDO:0035220	biolink:NamedThing	PLG-related hereditary angioedema with normal C1inh		DOVES_relaxed.owl
MONDO:0012930	biolink:NamedThing	autosomal recessive severe congenital neutropenia due to G6PC3 deficiency		DOVES_relaxed.owl
MONDO:0014118	biolink:NamedThing	congenital neutropenia-myelofibrosis-nephromegaly syndrome		DOVES_relaxed.owl
MONDO:0014456	biolink:NamedThing	autosomal recessive severe congenital neutropenia due to JAGN1 deficiency		DOVES_relaxed.owl
MONDO:0014865	biolink:NamedThing	autosomal recessive severe congenital neutropenia due to CSF3R deficiency		DOVES_relaxed.owl
MONDO:0018487	biolink:NamedThing	autosomal recessive severe congenital neutropenia due to CXCR2 deficiency		DOVES_relaxed.owl
MONDO:0012561	biolink:NamedThing	congenital anomalies of kidney and urinary tract 1	Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene.	DOVES_relaxed.owl
MONDO:0027676	biolink:NamedThing	congenital anomalies of kidney and urinary tract 2	Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene.	DOVES_relaxed.owl
MONDO:0032646	biolink:NamedThing	congenital anomalies of kidney and urinary tract 3		DOVES_relaxed.owl
MONDO:0014206	biolink:NamedThing	severe early-onset pulmonary alveolar proteinosis due to MARS deficiency		DOVES_relaxed.owl
MONDO:0018483	biolink:NamedThing	secondary pulmonary alveolar proteinosis	A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency.	DOVES_relaxed.owl
MONDO:0013607	biolink:NamedThing	monocytopenia with susceptibility to infections		DOVES_relaxed.owl
MONDO:0012596	biolink:NamedThing	PSAT deficiency	Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.	DOVES_relaxed.owl
MONDO:0018162	biolink:NamedThing	neurometabolic disorder due to serine deficiency	Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.	DOVES_relaxed.owl
MONDO:0013531	biolink:NamedThing	PSPH deficiency	3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.	DOVES_relaxed.owl
MONDO:0014725	biolink:NamedThing	spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome		DOVES_relaxed.owl
MONDO:0035004	biolink:NamedThing	serine biosynthesis pathway deficiency, infantile/juvenile form		DOVES_relaxed.owl
MONDO:0012603	biolink:NamedThing	episodic kinesigenic dyskinesia 2	A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1.	DOVES_relaxed.owl
MONDO:0100352	biolink:NamedThing	episodic kinesigenic dyskinesia 1		DOVES_relaxed.owl
MONDO:0012608	biolink:NamedThing	autosomal recessive lower motor neuron disease with childhood onset	A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.	DOVES_relaxed.owl
MONDO:0015250	biolink:NamedThing	spinal atrophy-ophthalmoplegia-pyramidal syndrome	Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.	DOVES_relaxed.owl
MONDO:0012964	biolink:NamedThing	chromosome 15q26-qter deletion syndrome	Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.	DOVES_relaxed.owl
MONDO:0013672	biolink:NamedThing	chromosome 15q25 deletion syndrome		DOVES_relaxed.owl
MONDO:0014294	biolink:NamedThing	chromosome 15q11.2 deletion syndrome	15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).	DOVES_relaxed.owl
MONDO:0014822	biolink:NamedThing	15q14 microdeletion syndrome	15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0020301	biolink:NamedThing	Prader-Willi syndrome due to paternal 15q11q13 deletion		DOVES_relaxed.owl
MONDO:0020302	biolink:NamedThing	Angelman syndrome due to maternal 15q11q13 deletion		DOVES_relaxed.owl
MONDO:0012629	biolink:NamedThing	paroxysmal nonkinesigenic dyskinesia 2	A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31.	DOVES_relaxed.owl
MONDO:0700089	biolink:NamedThing	paroxysmal nonkinesigenic dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene.	DOVES_relaxed.owl
MONDO:0012660	biolink:NamedThing	susceptibility to visceral leishmaniasis, 2		DOVES_relaxed.owl
MONDO:0012661	biolink:NamedThing	susceptibility to visceral leishmaniasis, 3		DOVES_relaxed.owl
MONDO:0012691	biolink:NamedThing	LEOPARD syndrome 2	Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene.	DOVES_relaxed.owl
MONDO:0013380	biolink:NamedThing	LEOPARD syndrome 3	Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene.	DOVES_relaxed.owl
MONDO:0100082	biolink:NamedThing	LEOPARD syndrome 1	Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24.	DOVES_relaxed.owl
MONDO:0012717	biolink:NamedThing	renal hypomagnesemia 4	Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene.	DOVES_relaxed.owl
MONDO:0013480	biolink:NamedThing	renal hypomagnesemia 6		DOVES_relaxed.owl
MONDO:0014631	biolink:NamedThing	hypomagnesemia, seizures, and intellectual disability		DOVES_relaxed.owl
MONDO:0012761	biolink:NamedThing	chromosome 3q29 microduplication syndrome	3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly.	DOVES_relaxed.owl
MONDO:0016954	biolink:NamedThing	partial duplication of the long arm of chromosome 3	Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0019878	biolink:NamedThing	3q26 microduplication syndrome	3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.	DOVES_relaxed.owl
MONDO:0013837	biolink:NamedThing	deafness-encephaloneuropathy-obesity-valvulopathy syndrome	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.	DOVES_relaxed.owl
MONDO:0013840	biolink:NamedThing	encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.	DOVES_relaxed.owl
MONDO:0014562	biolink:NamedThing	neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome		DOVES_relaxed.owl
MONDO:0014754	biolink:NamedThing	primary coenzyme Q10 deficiency 8	Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene.	DOVES_relaxed.owl
MONDO:0033615	biolink:NamedThing	coenzyme q10 deficiency, primary, 9		DOVES_relaxed.owl
MONDO:0012800	biolink:NamedThing	trichoepithelioma, multiple familial, 2		DOVES_relaxed.owl
MONDO:0042977	biolink:NamedThing	trichoepithelioma, multiple familial, 1		DOVES_relaxed.owl
MONDO:0012806	biolink:NamedThing	ectodermal dysplasia and immunodeficiency 2		DOVES_relaxed.owl
MONDO:0013791	biolink:NamedThing	thrombophilia due to protein S deficiency, autosomal recessive		DOVES_relaxed.owl
MONDO:0012869	biolink:NamedThing	intellectual disability, autosomal dominant 22	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene.	DOVES_relaxed.owl
MONDO:0013266	biolink:NamedThing	intellectual disability, autosomal dominant 20	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.	DOVES_relaxed.owl
MONDO:0014580	biolink:NamedThing	intellectual disability, autosomal dominant 33	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.	DOVES_relaxed.owl
MONDO:0014599	biolink:NamedThing	intellectual disability, autosomal dominant 34	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.	DOVES_relaxed.owl
MONDO:0014842	biolink:NamedThing	intellectual disability, autosomal dominant 41	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene.	DOVES_relaxed.owl
MONDO:0014855	biolink:NamedThing	intellectual disability, autosomal dominant 42	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GNB1 gene.	DOVES_relaxed.owl
MONDO:0014858	biolink:NamedThing	intellectual disability, autosomal dominant 43	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene.	DOVES_relaxed.owl
MONDO:0020847	biolink:NamedThing	intellectual disability, autosomal dominant 58		DOVES_relaxed.owl
MONDO:0030910	biolink:NamedThing	intellectual disability, autosomal dominant 45		DOVES_relaxed.owl
MONDO:0030911	biolink:NamedThing	intellectual disability, autosomal dominant 46		DOVES_relaxed.owl
MONDO:0030914	biolink:NamedThing	Clark-Baraitser syndrome		DOVES_relaxed.owl
MONDO:0030916	biolink:NamedThing	intellectual disability, autosomal dominant 50		DOVES_relaxed.owl
MONDO:0030917	biolink:NamedThing	intellectual disability, autosomal dominant 51		DOVES_relaxed.owl
MONDO:0030918	biolink:NamedThing	intellectual disability, autosomal dominant 52		DOVES_relaxed.owl
MONDO:0030919	biolink:NamedThing	intellectual disability, autosomal dominant 53		DOVES_relaxed.owl
MONDO:0030920	biolink:NamedThing	intellectual disability, autosomal dominant 54		DOVES_relaxed.owl
MONDO:0030921	biolink:NamedThing	intellectual disability, autosomal dominant 55, with seizures		DOVES_relaxed.owl
MONDO:0030922	biolink:NamedThing	intellectual disability, autosomal dominant 56		DOVES_relaxed.owl
MONDO:0032485	biolink:NamedThing	intellectual developmental disorder 61		DOVES_relaxed.owl
MONDO:0032795	biolink:NamedThing	intellectual developmental disorder 59		DOVES_relaxed.owl
MONDO:0032823	biolink:NamedThing	intellectual developmental disorder 60 with seizures		DOVES_relaxed.owl
MONDO:0032919	biolink:NamedThing	intellectual developmental disorder 62		DOVES_relaxed.owl
MONDO:0032939	biolink:NamedThing	intellectual developmental disorder, autosomal dominant 63, with macrocephaly		DOVES_relaxed.owl
MONDO:0054837	biolink:NamedThing	intellectual disability, autosomal dominant 57		DOVES_relaxed.owl
MONDO:0012871	biolink:NamedThing	Jervell and Lange-Nielsen syndrome 2	Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.	DOVES_relaxed.owl
MONDO:0024540	biolink:NamedThing	Jervell and Lange-Nielsen syndrome 1	Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.	DOVES_relaxed.owl
MONDO:0014139	biolink:NamedThing	Ehlers-Danlos syndrome, spondylodysplastic type, 2	Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene.	DOVES_relaxed.owl
MONDO:0035740	biolink:NamedThing	acquired factor XI deficiency		DOVES_relaxed.owl
MONDO:0012913	biolink:NamedThing	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene.	DOVES_relaxed.owl
MONDO:0012914	biolink:NamedThing	chromosome 1q21.1 deletion syndrome	1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.	DOVES_relaxed.owl
MONDO:0022756	biolink:NamedThing	chromosome 1q deletion	Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0016561	biolink:NamedThing	1q44 microdeletion syndrome	1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.	DOVES_relaxed.owl
MONDO:0018205	biolink:NamedThing	distal monosomy 1q	1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.	DOVES_relaxed.owl
MONDO:0012915	biolink:NamedThing	chromosome 1q21.1 duplication syndrome	Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual.	DOVES_relaxed.owl
MONDO:0016952	biolink:NamedThing	partial duplication of the long arm of chromosome 1		DOVES_relaxed.owl
MONDO:0016847	biolink:NamedThing	trisomy 1q	Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.	DOVES_relaxed.owl
MONDO:0012916	biolink:NamedThing	chromosome 2p16.1-p15 deletion syndrome	2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0016884	biolink:NamedThing	partial deletion of the short arm of chromosome 2		DOVES_relaxed.owl
MONDO:0013309	biolink:NamedThing	chromosome 2p12-p11.2 deletion syndrome		DOVES_relaxed.owl
MONDO:0012941	biolink:NamedThing	inflammatory bowel disease 25	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene.	DOVES_relaxed.owl
MONDO:0013153	biolink:NamedThing	inflammatory bowel disease 28	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene.	DOVES_relaxed.owl
MONDO:0016888	biolink:NamedThing	partial deletion of the short arm of chromosome 6		DOVES_relaxed.owl
MONDO:0016655	biolink:NamedThing	6p22 microdeletion syndrome	6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.	DOVES_relaxed.owl
MONDO:0012956	biolink:NamedThing	multiple sclerosis, susceptibility to, 2		DOVES_relaxed.owl
MONDO:0012957	biolink:NamedThing	multiple sclerosis, susceptibility to, 3		DOVES_relaxed.owl
MONDO:0012958	biolink:NamedThing	multiple sclerosis, susceptibility to, 4		DOVES_relaxed.owl
MONDO:0013893	biolink:NamedThing	multiple sclerosis, susceptibility to, 5	Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene.	DOVES_relaxed.owl
MONDO:0021571	biolink:NamedThing	multiple sclerosis, susceptibility to 1		DOVES_relaxed.owl
MONDO:0012987	biolink:NamedThing	agammaglobulinemia 6, autosomal recessive	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene.	DOVES_relaxed.owl
MONDO:0013287	biolink:NamedThing	agammaglobulinemia 2, autosomal recessive	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.	DOVES_relaxed.owl
MONDO:0013288	biolink:NamedThing	agammaglobulinemia 3, autosomal recessive	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.	DOVES_relaxed.owl
MONDO:0013289	biolink:NamedThing	agammaglobulinemia 4, autosomal recessive	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.	DOVES_relaxed.owl
MONDO:0013290	biolink:NamedThing	agammaglobulinemia 5, autosomal dominant	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene.	DOVES_relaxed.owl
MONDO:0014083	biolink:NamedThing	agammaglobulinemia 7, autosomal recessive	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.	DOVES_relaxed.owl
MONDO:0014840	biolink:NamedThing	agammaglobulinemia 8, autosomal dominant	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.	DOVES_relaxed.owl
MONDO:0020729	biolink:NamedThing	autosomal recessive agammaglobulinemia 1		DOVES_relaxed.owl
MONDO:0012993	biolink:NamedThing	dyschromatosis universalis hereditaria 2		DOVES_relaxed.owl
MONDO:0014169	biolink:NamedThing	dyschromatosis universalis hereditaria 3	Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene.	DOVES_relaxed.owl
MONDO:0024524	biolink:NamedThing	dyschromatosis universalis hereditaria 1		DOVES_relaxed.owl
MONDO:0013003	biolink:NamedThing	isolated congenital hypoglossia/aglossia	Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS).	DOVES_relaxed.owl
MONDO:0015498	biolink:NamedThing	oromandibular-limb anomalies syndrome		DOVES_relaxed.owl
MONDO:0013007	biolink:NamedThing	combined immunodeficiency due to ORAI1 deficiency	A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.	DOVES_relaxed.owl
MONDO:0013008	biolink:NamedThing	combined immunodeficiency due to STIM1 deficiency	Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.	DOVES_relaxed.owl
MONDO:0013025	biolink:NamedThing	chromosome 6q24-q25 deletion syndrome	6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.	DOVES_relaxed.owl
MONDO:0016905	biolink:NamedThing	partial deletion of the long arm of chromosome 6	Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0013299	biolink:NamedThing	chromosome 6q11-q14 deletion syndrome		DOVES_relaxed.owl
MONDO:0015749	biolink:NamedThing	6q16 deletion syndrome	Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.	DOVES_relaxed.owl
MONDO:0013040	biolink:NamedThing	atypical hemolytic-uremic syndrome with MCP/CD46 anomaly		DOVES_relaxed.owl
MONDO:0013041	biolink:NamedThing	atypical hemolytic-uremic syndrome with I factor anomaly		DOVES_relaxed.owl
MONDO:0013042	biolink:NamedThing	atypical hemolytic-uremic syndrome with B factor anomaly		DOVES_relaxed.owl
MONDO:0013043	biolink:NamedThing	atypical hemolytic-uremic syndrome with C3 anomaly		DOVES_relaxed.owl
MONDO:0013044	biolink:NamedThing	atypical hemolytic-uremic syndrome with thrombomodulin anomaly		DOVES_relaxed.owl
MONDO:0013048	biolink:NamedThing	hereditary spastic paraplegia 50	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.	DOVES_relaxed.owl
MONDO:0013401	biolink:NamedThing	hereditary spastic paraplegia 51	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.	DOVES_relaxed.owl
MONDO:0013551	biolink:NamedThing	hereditary spastic paraplegia 47	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.	DOVES_relaxed.owl
MONDO:0013552	biolink:NamedThing	hereditary spastic paraplegia 52	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene.	DOVES_relaxed.owl
MONDO:0027451	biolink:NamedThing	autosomal recessive cutis laxa type 2D	An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.	DOVES_relaxed.owl
MONDO:0027462	biolink:NamedThing	autosomal recessive cutis laxa type 2C	An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.	DOVES_relaxed.owl
MONDO:0013801	biolink:NamedThing	developmental and epileptic encephalopathy, 13	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.	DOVES_relaxed.owl
MONDO:0014133	biolink:NamedThing	developmental and epileptic encephalopathy, 16		DOVES_relaxed.owl
MONDO:0014360	biolink:NamedThing	developmental and epileptic encephalopathy, 21	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene.	DOVES_relaxed.owl
MONDO:0014377	biolink:NamedThing	developmental and epileptic encephalopathy, 24	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene.	DOVES_relaxed.owl
MONDO:0014392	biolink:NamedThing	developmental and epileptic encephalopathy, 25	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene.	DOVES_relaxed.owl
MONDO:0014477	biolink:NamedThing	developmental and epileptic encephalopathy, 26	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene.	DOVES_relaxed.owl
MONDO:0014533	biolink:NamedThing	developmental and epileptic encephalopathy, 28	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.	DOVES_relaxed.owl
MONDO:0014593	biolink:NamedThing	developmental and epileptic encephalopathy, 29	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene.	DOVES_relaxed.owl
MONDO:0014598	biolink:NamedThing	developmental and epileptic encephalopathy, 31	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene.	DOVES_relaxed.owl
MONDO:0014607	biolink:NamedThing	developmental and epileptic encephalopathy, 32	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene.	DOVES_relaxed.owl
MONDO:0014625	biolink:NamedThing	developmental and epileptic encephalopathy, 33	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene.	DOVES_relaxed.owl
MONDO:0014718	biolink:NamedThing	developmental and epileptic encephalopathy, 34	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene.	DOVES_relaxed.owl
MONDO:0014933	biolink:NamedThing	developmental and epileptic encephalopathy, 44	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.	DOVES_relaxed.owl
MONDO:0014942	biolink:NamedThing	developmental and epileptic encephalopathy, 45	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene.	DOVES_relaxed.owl
MONDO:0014947	biolink:NamedThing	developmental and epileptic encephalopathy, 46	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.	DOVES_relaxed.owl
MONDO:0014949	biolink:NamedThing	developmental and epileptic encephalopathy, 47	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene.	DOVES_relaxed.owl
MONDO:0013071	biolink:NamedThing	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.	DOVES_relaxed.owl
MONDO:0013072	biolink:NamedThing	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene.	DOVES_relaxed.owl
MONDO:0013677	biolink:NamedThing	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene.	DOVES_relaxed.owl
MONDO:0013081	biolink:NamedThing	lymphoproliferative syndrome 1	A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..	DOVES_relaxed.owl
MONDO:0014054	biolink:NamedThing	lymphoproliferative syndrome 2	Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.	DOVES_relaxed.owl
MONDO:0016917	biolink:NamedThing	partial deletion of the long arm of chromosome 19		DOVES_relaxed.owl
MONDO:0014659	biolink:NamedThing	infantile liver failure syndrome 2	Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene.	DOVES_relaxed.owl
MONDO:0024568	biolink:NamedThing	infantile liver failure syndrome 1	Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene.	DOVES_relaxed.owl
MONDO:0032844	biolink:NamedThing	infantile liver failure syndrome 3		DOVES_relaxed.owl
MONDO:0013113	biolink:NamedThing	metaphyseal anadysplasia 2	Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.	DOVES_relaxed.owl
MONDO:0013142	biolink:NamedThing	neuropathy, hereditary sensory and autonomic, type 2B	Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene.	DOVES_relaxed.owl
MONDO:0024309	biolink:NamedThing	neuropathy, hereditary sensory and autonomic, type 2A	A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13	DOVES_relaxed.owl
MONDO:0016942	biolink:NamedThing	partial trisomy/tetrasomy of the short arm of chromosome 5		DOVES_relaxed.owl
MONDO:0018028	biolink:NamedThing	tetrasomy 5p	Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).	DOVES_relaxed.owl
MONDO:0016150	biolink:NamedThing	qualitative or quantitative defects of integrin alpha-7		DOVES_relaxed.owl
MONDO:0013187	biolink:NamedThing	factor XIII, A subunit, deficiency of		DOVES_relaxed.owl
MONDO:0013190	biolink:NamedThing	factor XIII, b subunit, deficiency of		DOVES_relaxed.owl
MONDO:0017766	biolink:NamedThing	disorder of manganese transport		DOVES_relaxed.owl
MONDO:0013221	biolink:NamedThing	Miyoshi muscular dystrophy 2		DOVES_relaxed.owl
MONDO:0013222	biolink:NamedThing	Miyoshi muscular dystrophy 3		DOVES_relaxed.owl
MONDO:0013229	biolink:NamedThing	hot water reflex epilepsy	Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.	DOVES_relaxed.owl
MONDO:0013230	biolink:NamedThing	epilepsy, hot water, 2		DOVES_relaxed.owl
MONDO:0024508	biolink:NamedThing	epilepsy, hot water, 1		DOVES_relaxed.owl
MONDO:0013234	biolink:NamedThing	hypokalemic periodic paralysis, type 2		DOVES_relaxed.owl
MONDO:0042979	biolink:NamedThing	hypokalemic periodic paralysis, type 1		DOVES_relaxed.owl
MONDO:0013238	biolink:NamedThing	chromosome 17q23.1-q23.2 deletion syndrome	17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.	DOVES_relaxed.owl
MONDO:0016915	biolink:NamedThing	partial deletion of the long arm of chromosome 17		DOVES_relaxed.owl
MONDO:0013797	biolink:NamedThing	chromosome 17q12 deletion syndrome	17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported.	DOVES_relaxed.owl
MONDO:0015562	biolink:NamedThing	distal monosomy 17q	Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).	DOVES_relaxed.owl
MONDO:0018216	biolink:NamedThing	Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome		DOVES_relaxed.owl
MONDO:0035151	biolink:NamedThing	17q24.2 microdeletion syndrome	A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.	DOVES_relaxed.owl
MONDO:0013247	biolink:NamedThing	Fanconi renotubular syndrome 2	Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.	DOVES_relaxed.owl
MONDO:0014275	biolink:NamedThing	Fanconi renotubular syndrome 3	Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.	DOVES_relaxed.owl
MONDO:0024525	biolink:NamedThing	Fanconi renotubular syndrome 1		DOVES_relaxed.owl
MONDO:0013292	biolink:NamedThing	chromosome 4q21 deletion syndrome	The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.	DOVES_relaxed.owl
MONDO:0016903	biolink:NamedThing	partial deletion of the long arm of chromosome 4	Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0019895	biolink:NamedThing	distal monosomy 4q		DOVES_relaxed.owl
MONDO:0016967	biolink:NamedThing	partial duplication of the long arm of chromosome 17		DOVES_relaxed.owl
MONDO:0013796	biolink:NamedThing	chromosome 17q12 duplication syndrome	17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.	DOVES_relaxed.owl
MONDO:0018069	biolink:NamedThing	distal trisomy 17q	Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.	DOVES_relaxed.owl
MONDO:0013300	biolink:NamedThing	commissural facial cleft	Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)	DOVES_relaxed.owl
MONDO:0013313	biolink:NamedThing	ectodermal dysplasia-cutaneous syndactyly syndrome		DOVES_relaxed.owl
MONDO:0024565	biolink:NamedThing	ectodermal dysplasia-syndactyly syndrome 1	Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene.	DOVES_relaxed.owl
MONDO:0016955	biolink:NamedThing	partial duplication of the long arm of chromosome 4	Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0019879	biolink:NamedThing	distal trisomy 4q	Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.	DOVES_relaxed.owl
MONDO:0013323	biolink:NamedThing	cranioectodermal dysplasia 2	Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.	DOVES_relaxed.owl
MONDO:0013573	biolink:NamedThing	cranioectodermal dysplasia 3	Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.	DOVES_relaxed.owl
MONDO:0013719	biolink:NamedThing	cranioectodermal dysplasia 4		DOVES_relaxed.owl
MONDO:0021093	biolink:NamedThing	cranioectodermal dysplasia 1	Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.	DOVES_relaxed.owl
MONDO:0016897	biolink:NamedThing	partial deletion of the short arm of chromosome 19		DOVES_relaxed.owl
MONDO:0016765	biolink:NamedThing	19p13.12 microdeletion syndrome	19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0019893	biolink:NamedThing	distal monosomy 19p13.3	Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).	DOVES_relaxed.owl
MONDO:0013345	biolink:NamedThing	d-2-hydroxyglutaric aciduria 2	Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.	DOVES_relaxed.owl
MONDO:0024554	biolink:NamedThing	D-2-hydroxyglutaric aciduria 1	Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene.	DOVES_relaxed.owl
MONDO:0016990	biolink:NamedThing	acquired prothrombin deficiency	An instance of prothrombin deficiency that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0013409	biolink:NamedThing	age related macular degeneration 5	An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene.	DOVES_relaxed.owl
MONDO:0014189	biolink:NamedThing	age related macular degeneration 13	An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the CFI gene.	DOVES_relaxed.owl
MONDO:0014266	biolink:NamedThing	age related macular degeneration 15	An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the C9 gene.	DOVES_relaxed.owl
MONDO:0013411	biolink:NamedThing	cataract 16 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene.	DOVES_relaxed.owl
MONDO:0013423	biolink:NamedThing	immunodeficiency due to MASP-2 deficiency	Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.	DOVES_relaxed.owl
MONDO:0013467	biolink:NamedThing	immunodeficiency due to ficolin3 deficiency		DOVES_relaxed.owl
MONDO:0013714	biolink:NamedThing	mannose-binding lectin deficiency		DOVES_relaxed.owl
MONDO:0016885	biolink:NamedThing	partial deletion of the short arm of chromosome 3		DOVES_relaxed.owl
MONDO:0018564	biolink:NamedThing	3p25.3 microdeletion syndrome	A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.	DOVES_relaxed.owl
MONDO:0013472	biolink:NamedThing	fatal infantile hypertonic myofibrillar myopathy		DOVES_relaxed.owl
MONDO:0013490	biolink:NamedThing	megalencephalic leukoencephalopathy with subcortical cysts 2A		DOVES_relaxed.owl
MONDO:0013491	biolink:NamedThing	megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability		DOVES_relaxed.owl
MONDO:0024555	biolink:NamedThing	megalencephalic leukoencephalopathy with subcortical cysts 1		DOVES_relaxed.owl
MONDO:0013502	biolink:NamedThing	amyloidosis, primary localized cutaneous, 2		DOVES_relaxed.owl
MONDO:0024522	biolink:NamedThing	amyloidosis, primary localized cutaneous, 1	Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene.	DOVES_relaxed.owl
MONDO:0054765	biolink:NamedThing	amyloidosis, primary localized cutaneous, 3		DOVES_relaxed.owl
MONDO:0013512	biolink:NamedThing	hemoglobin H disease	Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia.	DOVES_relaxed.owl
MONDO:0015579	biolink:NamedThing	Hb Bart's hydrops fetalis	Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.	DOVES_relaxed.owl
MONDO:0013536	biolink:NamedThing	heme oxygenase 1 deficiency		DOVES_relaxed.owl
MONDO:0013555	biolink:NamedThing	Hermansky-Pudlak syndrome 3	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.	DOVES_relaxed.owl
MONDO:0013557	biolink:NamedThing	Hermansky-Pudlak syndrome 5	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.	DOVES_relaxed.owl
MONDO:0013558	biolink:NamedThing	Hermansky-Pudlak syndrome 6	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene.	DOVES_relaxed.owl
MONDO:0013590	biolink:NamedThing	Stickler syndrome, type 4	Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene.	DOVES_relaxed.owl
MONDO:0013666	biolink:NamedThing	Stickler syndrome, type 5	Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.	DOVES_relaxed.owl
MONDO:0013592	biolink:NamedThing	nonsyndromic congenital nail disorder 9		DOVES_relaxed.owl
MONDO:0013605	biolink:NamedThing	brittle cornea syndrome 2	Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.	DOVES_relaxed.owl
MONDO:0024543	biolink:NamedThing	brittle cornea syndrome 1	Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene.	DOVES_relaxed.owl
MONDO:0013622	biolink:NamedThing	platelet-type bleeding disorder 9	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene.	DOVES_relaxed.owl
MONDO:0013623	biolink:NamedThing	platelet-type bleeding disorder 11	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.	DOVES_relaxed.owl
MONDO:0013633	biolink:NamedThing	encephalopathy, acute, infection-induced, susceptibility to, 4	Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene.	DOVES_relaxed.owl
MONDO:0030313	biolink:NamedThing	encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10		DOVES_relaxed.owl
MONDO:0030334	biolink:NamedThing	encephalitis, acute, infection (viral)-induced, susceptibility to, 11		DOVES_relaxed.owl
MONDO:0032742	biolink:NamedThing	encephalopathy, acute, infection-induced, susceptibility to, 9		DOVES_relaxed.owl
MONDO:0054754	biolink:NamedThing	encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8		DOVES_relaxed.owl
MONDO:0800187	biolink:NamedThing	immunodeficiency 83, susceptibility to viral infections	An inherited susceptibility or predisposition to developing viral infections.	DOVES_relaxed.owl
MONDO:0019597	biolink:NamedThing	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.	DOVES_relaxed.owl
MONDO:0016951	biolink:NamedThing	partial trisomy/tetrasomy of the short arm of chromosome 18		DOVES_relaxed.owl
MONDO:0015740	biolink:NamedThing	trisomy 18p	Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.	DOVES_relaxed.owl
MONDO:0013678	biolink:NamedThing	EDICT syndrome	EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.	DOVES_relaxed.owl
MONDO:0019085	biolink:NamedThing	vernal keratoconjunctivitis	Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition.	DOVES_relaxed.owl
MONDO:0013687	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 12	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.	DOVES_relaxed.owl
MONDO:0014311	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 15	Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.	DOVES_relaxed.owl
MONDO:0014846	biolink:NamedThing	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency		DOVES_relaxed.owl
MONDO:0013693	biolink:NamedThing	inflammatory skin and bowel disease, neonatal, 1	Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene.	DOVES_relaxed.owl
MONDO:0014481	biolink:NamedThing	inflammatory skin and bowel disease, neonatal, 2	Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene.	DOVES_relaxed.owl
MONDO:0013700	biolink:NamedThing	pancreatic triacylglycerol lipase deficiency	An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase.	DOVES_relaxed.owl
MONDO:0013723	biolink:NamedThing	bacteremia, susceptibility to, 1	Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene.	DOVES_relaxed.owl
MONDO:0013724	biolink:NamedThing	bacteremia, susceptibility to, 2	Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene.	DOVES_relaxed.owl
MONDO:0013727	biolink:NamedThing	pregnancy loss, recurrent, susceptibility to, 1	Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene.	DOVES_relaxed.owl
MONDO:0013728	biolink:NamedThing	pregnancy loss, recurrent, susceptibility to, 2	Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene.	DOVES_relaxed.owl
MONDO:0013729	biolink:NamedThing	pregnancy loss, recurrent, susceptibility to, 3	Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene.	DOVES_relaxed.owl
MONDO:0013736	biolink:NamedThing	myopathy, centronuclear, 3	Any autosomal dominant centronuclear myopathy in which the cause of the disease is a mutation in the MYF6 gene.	DOVES_relaxed.owl
MONDO:0024566	biolink:NamedThing	febrile seizures, familial, 11		DOVES_relaxed.owl
MONDO:0018360	biolink:NamedThing	neonatal lupus erythematosus	A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis.	DOVES_relaxed.owl
MONDO:0019725	biolink:NamedThing	pediatric systemic lupus erythematosus		DOVES_relaxed.owl
MONDO:0044113	biolink:NamedThing	bullous systemic lupus erythematosus	A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption.	DOVES_relaxed.owl
MONDO:0013748	biolink:NamedThing	ventricular septal defect 2	Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene.	DOVES_relaxed.owl
MONDO:0013749	biolink:NamedThing	ventricular septal defect 3	Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene.	DOVES_relaxed.owl
MONDO:0800107	biolink:NamedThing	anterior deviation infundibular septum		DOVES_relaxed.owl
MONDO:0013790	biolink:NamedThing	mirror movements 2	Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene.	DOVES_relaxed.owl
MONDO:0014478	biolink:NamedThing	mirror movements 3	Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene.	DOVES_relaxed.owl
MONDO:0032641	biolink:NamedThing	mirror movements 4		DOVES_relaxed.owl
MONDO:0013798	biolink:NamedThing	chromosome 16q22 deletion syndrome		DOVES_relaxed.owl
MONDO:0016914	biolink:NamedThing	partial deletion of the long arm of chromosome 16		DOVES_relaxed.owl
MONDO:0016838	biolink:NamedThing	16q24.3 microdeletion syndrome	16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	DOVES_relaxed.owl
MONDO:0013815	biolink:NamedThing	FGFR2-related bent bone dysplasia		DOVES_relaxed.owl
MONDO:0013818	biolink:NamedThing	trichohepatoenteric syndrome 2	Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene.	DOVES_relaxed.owl
MONDO:0024541	biolink:NamedThing	trichohepatoenteric syndrome 1	Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene.	DOVES_relaxed.owl
MONDO:0014887	biolink:NamedThing	bone marrow failure syndrome 3	Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.	DOVES_relaxed.owl
MONDO:0020856	biolink:NamedThing	bone marrow failure syndrome 4		DOVES_relaxed.owl
MONDO:0030015	biolink:NamedThing	bone marrow failure syndrome 6		DOVES_relaxed.owl
MONDO:0030894	biolink:NamedThing	AMED syndrome, digenic		DOVES_relaxed.owl
MONDO:0032573	biolink:NamedThing	bone marrow failure syndrome 5		DOVES_relaxed.owl
MONDO:0013858	biolink:NamedThing	pontine tegmental cap dysplasia	Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation.	DOVES_relaxed.owl
MONDO:0015915	biolink:NamedThing	cerebellar malformation		DOVES_relaxed.owl
MONDO:0013878	biolink:NamedThing	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene.	DOVES_relaxed.owl
MONDO:0013879	biolink:NamedThing	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2		DOVES_relaxed.owl
MONDO:0014612	biolink:NamedThing	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene.	DOVES_relaxed.owl
MONDO:0014613	biolink:NamedThing	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene.	DOVES_relaxed.owl
MONDO:0030690	biolink:NamedThing	pulmonary fibrosis and/or bone marrow failure, telomere-related, 6		DOVES_relaxed.owl
MONDO:0032865	biolink:NamedThing	pulmonary fibrosis and/or bone marrow failure, telomere-related, 5		DOVES_relaxed.owl
MONDO:0013884	biolink:NamedThing	neuronopathy, distal hereditary motor, type 5B	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene.	DOVES_relaxed.owl
MONDO:0030860	biolink:NamedThing	neuronopathy, distal hereditary motor, type 5C	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene.	DOVES_relaxed.owl
MONDO:0013902	biolink:NamedThing	aortic valve disease 2	Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.	DOVES_relaxed.owl
MONDO:0024523	biolink:NamedThing	aortic valve disease 1	Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene.	DOVES_relaxed.owl
MONDO:0032783	biolink:NamedThing	aortic valve disease 3		DOVES_relaxed.owl
MONDO:0013905	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 13	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.	DOVES_relaxed.owl
MONDO:0014530	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 18	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.	DOVES_relaxed.owl
MONDO:0013918	biolink:NamedThing	distal tetrasomy 15q		DOVES_relaxed.owl
MONDO:0015728	biolink:NamedThing	distal trisomy 15q		DOVES_relaxed.owl
MONDO:0013930	biolink:NamedThing	peroxisome biogenesis disorder 4A (Zellweger)		DOVES_relaxed.owl
MONDO:0100263	biolink:NamedThing	peroxisome biogenesis disorder due to PEX6 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene.	DOVES_relaxed.owl
MONDO:0013931	biolink:NamedThing	peroxisome biogenesis disorder 4B		DOVES_relaxed.owl
MONDO:0013932	biolink:NamedThing	peroxisome biogenesis disorder 5A (Zellweger)		DOVES_relaxed.owl
MONDO:0100260	biolink:NamedThing	peroxisome biogenesis disorder due to PEX2 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene.	DOVES_relaxed.owl
MONDO:0013933	biolink:NamedThing	peroxisome biogenesis disorder 5B		DOVES_relaxed.owl
MONDO:0013936	biolink:NamedThing	peroxisome biogenesis disorder 6A (Zellweger)		DOVES_relaxed.owl
MONDO:0100264	biolink:NamedThing	peroxisome biogenesis disorder due to PEX10 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene.	DOVES_relaxed.owl
MONDO:0013937	biolink:NamedThing	peroxisome biogenesis disorder 6B		DOVES_relaxed.owl
MONDO:0013938	biolink:NamedThing	peroxisome biogenesis disorder 7A (Zellweger)		DOVES_relaxed.owl
MONDO:0100271	biolink:NamedThing	peroxisome biogenesis disorder due to PEX26 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene.	DOVES_relaxed.owl
MONDO:0013939	biolink:NamedThing	peroxisome biogenesis disorder 7B		DOVES_relaxed.owl
MONDO:0013942	biolink:NamedThing	peroxisome biogenesis disorder 8A (Zellweger)		DOVES_relaxed.owl
MONDO:0100269	biolink:NamedThing	peroxisome biogenesis disorder due to PEX16 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene.	DOVES_relaxed.owl
MONDO:0013943	biolink:NamedThing	peroxisome biogenesis disorder 8B		DOVES_relaxed.owl
MONDO:0013945	biolink:NamedThing	peroxisome biogenesis disorder 9B		DOVES_relaxed.owl
MONDO:0100261	biolink:NamedThing	peroxisome biogenesis disorder due to PEX3 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene.	DOVES_relaxed.owl
MONDO:0100267	biolink:NamedThing	peroxisome biogenesis disorder due to PEX13 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene.	DOVES_relaxed.owl
MONDO:0100268	biolink:NamedThing	peroxisome biogenesis disorder due to PEX14 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene.	DOVES_relaxed.owl
MONDO:0100270	biolink:NamedThing	peroxisome biogenesis disorder due to PEX19 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene.	DOVES_relaxed.owl
MONDO:0100279	biolink:NamedThing	peroxisome biogenesis disorder due to PEX11B defect	Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene.	DOVES_relaxed.owl
MONDO:0800298	biolink:NamedThing	peroxisome biogenesis disorder, complementation group 2		DOVES_relaxed.owl
MONDO:0013948	biolink:NamedThing	peroxisome biogenesis disorder 10A (Zellweger)		DOVES_relaxed.owl
MONDO:0054549	biolink:NamedThing	peroxisome biogenesis disorder 10B		DOVES_relaxed.owl
MONDO:0013949	biolink:NamedThing	peroxisome biogenesis disorder 11A (Zellweger)		DOVES_relaxed.owl
MONDO:0013950	biolink:NamedThing	peroxisome biogenesis disorder 11B		DOVES_relaxed.owl
MONDO:0013951	biolink:NamedThing	peroxisome biogenesis disorder 12A (Zellweger)		DOVES_relaxed.owl
MONDO:0013952	biolink:NamedThing	peroxisome biogenesis disorder 13A (Zellweger)		DOVES_relaxed.owl
MONDO:0800365	biolink:NamedThing	peroxisome biogenesis disorder, complementation group K		DOVES_relaxed.owl
MONDO:0013967	biolink:NamedThing	peroxisome biogenesis disorder 14B		DOVES_relaxed.owl
MONDO:0013996	biolink:NamedThing	focal facial dermal dysplasia type II	Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.	DOVES_relaxed.owl
MONDO:0014021	biolink:NamedThing	familial episodic pain syndrome with predominantly upper body involvement		DOVES_relaxed.owl
MONDO:0014246	biolink:NamedThing	episodic pain syndrome, familial, 2	Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene.	DOVES_relaxed.owl
MONDO:0014057	biolink:NamedThing	maple syrup urine disease, mild variant		DOVES_relaxed.owl
MONDO:0030827	biolink:NamedThing	macrothrombocytopenia, isolated, 2, autosomal dominant		DOVES_relaxed.owl
MONDO:0800047	biolink:NamedThing	macrothrombocytopenia, isolated, 1, autosomal dominant	Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.	DOVES_relaxed.owl
MONDO:0014081	biolink:NamedThing	severe combined immunodeficiency due to CARD11 deficiency	Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.	DOVES_relaxed.owl
MONDO:0014267	biolink:NamedThing	severe combined immunodeficiency due to IKK2 deficiency	Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.	DOVES_relaxed.owl
MONDO:0014391	biolink:NamedThing	severe combined immunodeficiency due to CTPS1 deficiency	Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.	DOVES_relaxed.owl
MONDO:0016330	biolink:NamedThing	non-familial hypertrophic cardiomyopathy	An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0016424	biolink:NamedThing	progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.	DOVES_relaxed.owl
MONDO:0017336	biolink:NamedThing	fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency		DOVES_relaxed.owl
MONDO:0014125	biolink:NamedThing	symphalangism, proximal, 1B	Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene.	DOVES_relaxed.owl
MONDO:0020733	biolink:NamedThing	proximal symphalangism 1A		DOVES_relaxed.owl
MONDO:0014130	biolink:NamedThing	Dowling-Degos disease 2	Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene.	DOVES_relaxed.owl
MONDO:0014301	biolink:NamedThing	dowling-degos disease 3		DOVES_relaxed.owl
MONDO:0014307	biolink:NamedThing	Dowling-Degos disease 4	Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene.	DOVES_relaxed.owl
MONDO:0024534	biolink:NamedThing	Dowling-Degos disease 1	Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.	DOVES_relaxed.owl
MONDO:0014134	biolink:NamedThing	pulmonary hypertension, primary, 2	Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene.	DOVES_relaxed.owl
MONDO:0014135	biolink:NamedThing	pulmonary hypertension, primary, 3	Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene.	DOVES_relaxed.owl
MONDO:0014136	biolink:NamedThing	pulmonary hypertension, primary, 4	Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene.	DOVES_relaxed.owl
MONDO:0024533	biolink:NamedThing	pulmonary hypertension, primary, 1	Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene.	DOVES_relaxed.owl
MONDO:0014150	biolink:NamedThing	developmental and epileptic encephalopathy 94	An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.	DOVES_relaxed.owl
MONDO:0014633	biolink:NamedThing	myoclonic-atonic epilepsy		DOVES_relaxed.owl
MONDO:0014921	biolink:NamedThing	developmental and epileptic encephalopathy, 43	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene.	DOVES_relaxed.owl
MONDO:0016026	biolink:NamedThing	infant epilepsy with migrant focal crisis	An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown.	DOVES_relaxed.owl
MONDO:0017852	biolink:NamedThing	infantile spasms-broad thumbs syndrome	A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.	DOVES_relaxed.owl
MONDO:0018126	biolink:NamedThing	progressive myoclonic epilepsy with dystonia	A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.	DOVES_relaxed.owl
MONDO:0019488	biolink:NamedThing	myoclonic epilepsy in non-progressive encephalopathies	A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.	DOVES_relaxed.owl
MONDO:0034099	biolink:NamedThing	SYNGAP1-related developmental and epileptic encephalopathy	A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).	DOVES_relaxed.owl
MONDO:0014222	biolink:NamedThing	immunodeficiency 14		DOVES_relaxed.owl
MONDO:0014453	biolink:NamedThing	immunodeficiency 36		DOVES_relaxed.owl
MONDO:0014243	biolink:NamedThing	Schaaf-Yang syndrome		DOVES_relaxed.owl
MONDO:0015785	biolink:NamedThing	Prader-Willi syndrome due to translocation		DOVES_relaxed.owl
MONDO:0015786	biolink:NamedThing	Prader-Willi syndrome due to imprinting mutation		DOVES_relaxed.owl
MONDO:0014244	biolink:NamedThing	hereditary sensory and autonomic neuropathy type 7	Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'	DOVES_relaxed.owl
MONDO:0014254	biolink:NamedThing	otofaciocervical syndrome 2	Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene.	DOVES_relaxed.owl
MONDO:0024532	biolink:NamedThing	otofaciocervical syndrome 1	Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene.	DOVES_relaxed.owl
MONDO:0014258	biolink:NamedThing	congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome		DOVES_relaxed.owl
MONDO:0014282	biolink:NamedThing	hereditary spastic paraplegia 72	Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene.	DOVES_relaxed.owl
MONDO:0014319	biolink:NamedThing	renal hypodysplasia/aplasia 2	Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene.	DOVES_relaxed.owl
MONDO:0015986	biolink:NamedThing	bilateral renal agenesis	Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.	DOVES_relaxed.owl
MONDO:0019636	biolink:NamedThing	renal agenesis, unilateral	Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.	DOVES_relaxed.owl
MONDO:0024519	biolink:NamedThing	renal hypodysplasia/aplasia 1		DOVES_relaxed.owl
MONDO:0024520	biolink:NamedThing	renal hypodysplasia/aplasia 3		DOVES_relaxed.owl
MONDO:0030822	biolink:NamedThing	renal hypodysplasia/aplasia 4		DOVES_relaxed.owl
MONDO:0020837	biolink:NamedThing	oocyte maturation defect 5		DOVES_relaxed.owl
MONDO:0021573	biolink:NamedThing	oocyte maturation defect 2	Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.	DOVES_relaxed.owl
MONDO:0021574	biolink:NamedThing	oocyte maturation defect 3		DOVES_relaxed.owl
MONDO:0021575	biolink:NamedThing	oocyte maturation defect 4		DOVES_relaxed.owl
MONDO:0030490	biolink:NamedThing	oocyte maturation defect 11		DOVES_relaxed.owl
MONDO:0030523	biolink:NamedThing	oocyte maturation defect 12		DOVES_relaxed.owl
MONDO:0030925	biolink:NamedThing	oocyte maturation defect 10		DOVES_relaxed.owl
MONDO:0032696	biolink:NamedThing	oocyte maturation defect 6		DOVES_relaxed.owl
MONDO:0032810	biolink:NamedThing	oocyte maturation defect 7		DOVES_relaxed.owl
MONDO:0033564	biolink:NamedThing	oocyte maturation defect 8		DOVES_relaxed.owl
MONDO:0033565	biolink:NamedThing	oocyte maturation defect 9		DOVES_relaxed.owl
MONDO:0014355	biolink:NamedThing	cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis		DOVES_relaxed.owl
MONDO:0700023	biolink:NamedThing	chromosome 16 disorder	Chromosomal disorder in which chromosome 16 is affected.	DOVES_relaxed.owl
MONDO:0016934	biolink:NamedThing	partial duplication of chromosome 16		DOVES_relaxed.owl
MONDO:0019909	biolink:NamedThing	ring chromosome 16	Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature.	DOVES_relaxed.owl
MONDO:0014383	biolink:NamedThing	myopathy, tubular aggregate, 2	Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.	DOVES_relaxed.owl
MONDO:0024531	biolink:NamedThing	myopathy, tubular aggregate, 1	Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene.	DOVES_relaxed.owl
MONDO:0014387	biolink:NamedThing	leukoencephalopathy, progressive, with ovarian failure		DOVES_relaxed.owl
MONDO:0020506	biolink:NamedThing	ovarioleukodystrophy		DOVES_relaxed.owl
MONDO:0014861	biolink:NamedThing	autoimmune disease, multisystem, infantile-onset, 2	Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene.	DOVES_relaxed.owl
MONDO:0014416	biolink:NamedThing	ACTH-independent macronodular adrenal hyperplasia 2	Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene.	DOVES_relaxed.owl
MONDO:0020735	biolink:NamedThing	ACTH-independent macronodular adrenal hyperplasia 1		DOVES_relaxed.owl
MONDO:0043141	biolink:NamedThing	microdontia hypodontia short stature		DOVES_relaxed.owl
MONDO:0016157	biolink:NamedThing	qualitative or quantitative defects of fukutin		DOVES_relaxed.owl
MONDO:0016182	biolink:NamedThing	qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase		DOVES_relaxed.owl
MONDO:0016183	biolink:NamedThing	qualitative or quantitative defects of protein glycosyltransferase-like		DOVES_relaxed.owl
MONDO:0014490	biolink:NamedThing	ketoacidosis due to monocarboxylate transporter-1 deficiency		DOVES_relaxed.owl
MONDO:0018579	biolink:NamedThing	disorder of ketone body transport		DOVES_relaxed.owl
MONDO:0100275	biolink:NamedThing	fatty acyl-CoA reductase defects	Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene.	DOVES_relaxed.owl
MONDO:0014555	biolink:NamedThing	peeling skin syndrome type A	Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin.	DOVES_relaxed.owl
MONDO:0016993	biolink:NamedThing	generalized peeling skin syndrome type C		DOVES_relaxed.owl
MONDO:0024548	biolink:NamedThing	peeling skin syndrome 1	Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene.	DOVES_relaxed.owl
MONDO:0014563	biolink:NamedThing	mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency		DOVES_relaxed.owl
MONDO:0100372	biolink:NamedThing	disorder of peroxisomal transporter	Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.	DOVES_relaxed.owl
MONDO:0014591	biolink:NamedThing	autosomal dominant Robinow syndrome 2	Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene.	DOVES_relaxed.owl
MONDO:0014819	biolink:NamedThing	autosomal dominant Robinow syndrome 3	Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene.	DOVES_relaxed.owl
MONDO:0024455	biolink:NamedThing	autosomal dominant Robinow syndrome 1	Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene.	DOVES_relaxed.owl
MONDO:0014646	biolink:NamedThing	Zimmermann-Laband syndrome 2	Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene.	DOVES_relaxed.owl
MONDO:0032854	biolink:NamedThing	zimmermann-laband syndrome 3		DOVES_relaxed.owl
MONDO:0022055	biolink:NamedThing	Calabro syndrome		DOVES_relaxed.owl
MONDO:0014700	biolink:NamedThing	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation		DOVES_relaxed.owl
MONDO:0018131	biolink:NamedThing	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion		DOVES_relaxed.owl
MONDO:0016964	biolink:NamedThing	partial duplication of the long arm of chromosome 14		DOVES_relaxed.owl
MONDO:0016835	biolink:NamedThing	14q11.2 microduplication syndrome	14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.	DOVES_relaxed.owl
MONDO:0015430	biolink:NamedThing	ring chromosome 1	Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.	DOVES_relaxed.owl
MONDO:0015432	biolink:NamedThing	ring chromosome 12	Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.	DOVES_relaxed.owl
MONDO:0015433	biolink:NamedThing	ring chromosome 17	Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.	DOVES_relaxed.owl
MONDO:0015435	biolink:NamedThing	ring chromosome 19	Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.	DOVES_relaxed.owl
MONDO:0015438	biolink:NamedThing	ring chromosome 22	Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family.	DOVES_relaxed.owl
MONDO:0015439	biolink:NamedThing	ring chromosome 4	Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.	DOVES_relaxed.owl
MONDO:0015440	biolink:NamedThing	ring chromosome 6	Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.	DOVES_relaxed.owl
MONDO:0015441	biolink:NamedThing	ring chromosome 7	Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).	DOVES_relaxed.owl
MONDO:0015443	biolink:NamedThing	chromosome 8-derived supernumerary ring/marker	Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.	DOVES_relaxed.owl
MONDO:0016654	biolink:NamedThing	ring chromosome 5	Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).	DOVES_relaxed.owl
MONDO:0016853	biolink:NamedThing	ring chromosome Y	Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.	DOVES_relaxed.owl
MONDO:0019903	biolink:NamedThing	ring chromosome 2	Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).	DOVES_relaxed.owl
MONDO:0019904	biolink:NamedThing	ring chromosome 3	Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.	DOVES_relaxed.owl
MONDO:0019905	biolink:NamedThing	ring chromosome 9	Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.	DOVES_relaxed.owl
MONDO:0019906	biolink:NamedThing	ring chromosome 11	Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.	DOVES_relaxed.owl
MONDO:0019908	biolink:NamedThing	ring chromosome 15	Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists.	DOVES_relaxed.owl
MONDO:0014741	biolink:NamedThing	DeSanto-Shinawi syndrome due to WAC point mutation		DOVES_relaxed.owl
MONDO:0014743	biolink:NamedThing	rhizomelic chondrodysplasia punctata type 5	Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.	DOVES_relaxed.owl
MONDO:0014755	biolink:NamedThing	skin creases, congenital symmetric circumferential, 2		DOVES_relaxed.owl
MONDO:0020738	biolink:NamedThing	multiple benign circumferential skin creases on limbs 1		DOVES_relaxed.owl
MONDO:0014777	biolink:NamedThing	hypotonia, infantile, with psychomotor retardation and characteristic facies 2	Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.	DOVES_relaxed.owl
MONDO:0014823	biolink:NamedThing	hypotonia, infantile, with psychomotor retardation and characteristic facies 3	A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.	DOVES_relaxed.owl
MONDO:0024567	biolink:NamedThing	hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.	DOVES_relaxed.owl
MONDO:0032753	biolink:NamedThing	spastic ataxia 9, autosomal recessive		DOVES_relaxed.owl
MONDO:0014806	biolink:NamedThing	spinal muscular atrophy with congenital bone fractures 1	Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene.	DOVES_relaxed.owl
MONDO:0014807	biolink:NamedThing	spinal muscular atrophy with congenital bone fractures 2	Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.	DOVES_relaxed.owl
MONDO:0700044	biolink:NamedThing	TUBB2A-related tubulinopathy	A tubulinopathy syndrome often associated with microtubule dysfunction, malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter, due to heterozygous variants in TUBB2A. Individuals may present with variable combinations of malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter. Epilepsy, speech impairment, and motor impairment are also frequent features.	DOVES_relaxed.owl
MONDO:0019179	biolink:NamedThing	monosomy 9q22.3	Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.	DOVES_relaxed.owl
MONDO:0014851	biolink:NamedThing	hypercalcemia, infantile, 2	Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.	DOVES_relaxed.owl
MONDO:0020739	biolink:NamedThing	hypercalcemia, infantile, 1		DOVES_relaxed.owl
MONDO:0018529	biolink:NamedThing	qualitative or quantitative defects of Torsin-1A-interacting protein 1		DOVES_relaxed.owl
MONDO:0014919	biolink:NamedThing	sessile serrated polyposis cancer syndrome		DOVES_relaxed.owl
MONDO:0014924	biolink:NamedThing	epilepsy, familial focal, with variable foci 2	Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene.	DOVES_relaxed.owl
MONDO:0014925	biolink:NamedThing	epilepsy, familial focal, with variable foci 3	Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene.	DOVES_relaxed.owl
MONDO:0024556	biolink:NamedThing	epilepsy, familial focal, with variable foci 1	Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene.	DOVES_relaxed.owl
MONDO:0054776	biolink:NamedThing	epilepsy, familial focal, with variable foci 4		DOVES_relaxed.owl
MONDO:0014935	biolink:NamedThing	frontometaphyseal dysplasia 2	Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.	DOVES_relaxed.owl
MONDO:0024550	biolink:NamedThing	frontometaphyseal dysplasia 1	Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene.	DOVES_relaxed.owl
MONDO:0014937	biolink:NamedThing	aniridia 2		DOVES_relaxed.owl
MONDO:0014938	biolink:NamedThing	aniridia 3	Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene.	DOVES_relaxed.owl
MONDO:0024507	biolink:NamedThing	aniridia 1		DOVES_relaxed.owl
MONDO:0014954	biolink:NamedThing	Ehlers-Danlos syndrome, periodontal type 2		DOVES_relaxed.owl
MONDO:0020684	biolink:NamedThing	Ehlers-Danlos syndrome, periodontal type 1		DOVES_relaxed.owl
MONDO:0014955	biolink:NamedThing	RCBTB1-related retinopathy		DOVES_relaxed.owl
MONDO:0014972	biolink:NamedThing	chromosome 19q13.11 deletion syndrome, proximal	Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted.	DOVES_relaxed.owl
MONDO:0700107	biolink:NamedThing	chromosome 19q13.11 deletion syndrome, distal	Chromosome 19q13.11 deletion syndrome in which the distal region was deleted.	DOVES_relaxed.owl
MONDO:0014989	biolink:NamedThing	uncombable hair syndrome 2	Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene.	DOVES_relaxed.owl
MONDO:0014990	biolink:NamedThing	uncombable hair syndrome 3	Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene.	DOVES_relaxed.owl
MONDO:0020736	biolink:NamedThing	uncombable hair syndrome 1		DOVES_relaxed.owl
MONDO:0800182	biolink:NamedThing	TEK-related primary glaucoma	Any primary hereditary glaucoma in which the cause of the disease is a mutation in the TEK gene.	DOVES_relaxed.owl
MONDO:0015005	biolink:NamedThing	epilepsy, early-onset, vitamin B6-dependent		DOVES_relaxed.owl
MONDO:0020741	biolink:NamedThing	pyridoxine-dependent epilepsy caused by ALDH7A1 mutant		DOVES_relaxed.owl
MONDO:0700080	biolink:NamedThing	EPHB4-associated vascular malformation spectrum	Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene.	DOVES_relaxed.owl
MONDO:0020785	biolink:NamedThing	capillary malformation-arteriovenous malformation 2		DOVES_relaxed.owl
MONDO:0015010	biolink:NamedThing	atypical glycine encephalopathy	Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.	DOVES_relaxed.owl
MONDO:0017353	biolink:NamedThing	neonatal glycine encephalopathy	Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.	DOVES_relaxed.owl
MONDO:0017354	biolink:NamedThing	infantile glycine encephalopathy	Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures.	DOVES_relaxed.owl
MONDO:0015026	biolink:NamedThing	cerebroretinal microangiopathy with calcifications and cysts 2	Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene.	DOVES_relaxed.owl
MONDO:0024564	biolink:NamedThing	cerebroretinal microangiopathy with calcifications and cysts 1	Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene.	DOVES_relaxed.owl
MONDO:0015029	biolink:NamedThing	reticular perineurioma		DOVES_relaxed.owl
MONDO:0015031	biolink:NamedThing	extraneural perineurioma	Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.	DOVES_relaxed.owl
MONDO:0015030	biolink:NamedThing	sclerosing perineurioma		DOVES_relaxed.owl
MONDO:0015032	biolink:NamedThing	intraneural perineurioma	A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells.	DOVES_relaxed.owl
MONDO:0015033	biolink:NamedThing	ABeta amyloidosis, dutch type	Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.	DOVES_relaxed.owl
MONDO:0017945	biolink:NamedThing	ABetaL34V amyloidosis	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.	DOVES_relaxed.owl
MONDO:0017946	biolink:NamedThing	ABeta amyloidosis, Iowa type	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.	DOVES_relaxed.owl
MONDO:0017947	biolink:NamedThing	ABeta amyloidosis, Italian type	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.	DOVES_relaxed.owl
MONDO:0017948	biolink:NamedThing	ABetaA21G amyloidosis	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.	DOVES_relaxed.owl
MONDO:0017949	biolink:NamedThing	ABeta amyloidosis, Arctic type	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.	DOVES_relaxed.owl
MONDO:0015034	biolink:NamedThing	lissencephaly with cerebellar hypoplasia type A	Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia.	DOVES_relaxed.owl
MONDO:0015035	biolink:NamedThing	lissencephaly with cerebellar hypoplasia type B	Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.	DOVES_relaxed.owl
MONDO:0015036	biolink:NamedThing	lissencephaly with cerebellar hypoplasia type C	Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.	DOVES_relaxed.owl
MONDO:0015037	biolink:NamedThing	lissencephaly with cerebellar hypoplasia type D	Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.	DOVES_relaxed.owl
MONDO:0015038	biolink:NamedThing	lissencephaly with cerebellar hypoplasia type E	Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia.	DOVES_relaxed.owl
MONDO:0015039	biolink:NamedThing	lissencephaly with cerebellar hypoplasia type F	Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.	DOVES_relaxed.owl
MONDO:0015040	biolink:NamedThing	myelodysplastic syndrome with excess blasts-1	A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)	DOVES_relaxed.owl
MONDO:0015041	biolink:NamedThing	myelodysplastic syndrome with excess blasts-2	A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO)	DOVES_relaxed.owl
MONDO:0015050	biolink:NamedThing	esophageal duplication cyst	Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.	DOVES_relaxed.owl
MONDO:0015051	biolink:NamedThing	tubular duplication of the esophagus	Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children.	DOVES_relaxed.owl
MONDO:0015053	biolink:NamedThing	hereditary angioedema type 1	Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	DOVES_relaxed.owl
MONDO:0015054	biolink:NamedThing	hereditary angioedema type 2	Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	DOVES_relaxed.owl
MONDO:0015055	biolink:NamedThing	acquired angioedema type 2	Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	DOVES_relaxed.owl
MONDO:0019624	biolink:NamedThing	acquired angioedema	Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.	DOVES_relaxed.owl
MONDO:0015056	biolink:NamedThing	acquired angioedema type 1	Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	DOVES_relaxed.owl
MONDO:0015057	biolink:NamedThing	renin-angiotensin-aldosterone system-blocker-induced angioedema	Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	DOVES_relaxed.owl
MONDO:0033948	biolink:NamedThing	acquired angioedema with C1Inh deficiency		DOVES_relaxed.owl
MONDO:0034556	biolink:NamedThing	vibratory angioedema	Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.	DOVES_relaxed.owl
MONDO:0700010	biolink:NamedThing	chromosome 3 disorder	Chromosomal disorder in which chromosome 3 is affected.	DOVES_relaxed.owl
MONDO:0016923	biolink:NamedThing	partial duplication of chromosome 3		DOVES_relaxed.owl
MONDO:0015061	biolink:NamedThing	neurogenic thoracic outlet syndrome	Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.	DOVES_relaxed.owl
MONDO:0018164	biolink:NamedThing	arterial thoracic outlet syndrome	Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia.	DOVES_relaxed.owl
MONDO:0018165	biolink:NamedThing	venous thoracic outlet syndrome	Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis.	DOVES_relaxed.owl
MONDO:0015069	biolink:NamedThing	neuroendocrine tumor of the anal canal	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal.	DOVES_relaxed.owl
MONDO:0015093	biolink:NamedThing	sub-cortical nodular heterotopia		DOVES_relaxed.owl
MONDO:0015094	biolink:NamedThing	subependymal nodular heterotopia		DOVES_relaxed.owl
MONDO:0015095	biolink:NamedThing	Peters anomaly-cataract syndrome		DOVES_relaxed.owl
MONDO:0020353	biolink:NamedThing	von Hippel anomaly		DOVES_relaxed.owl
MONDO:0015096	biolink:NamedThing	familial hypofibrinogenemia	Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.	DOVES_relaxed.owl
MONDO:0016638	biolink:NamedThing	familial hypodysfibrinogenemia		DOVES_relaxed.owl
MONDO:0015097	biolink:NamedThing	aortic valve dysplasia		DOVES_relaxed.owl
MONDO:0015099	biolink:NamedThing	unilateral hemispheric polymicrogyria		DOVES_relaxed.owl
MONDO:0017092	biolink:NamedThing	unilateral polymicrogyria	Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.	DOVES_relaxed.owl
MONDO:0017093	biolink:NamedThing	unilateral focal polymicrogyria	Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.	DOVES_relaxed.owl
MONDO:0015100	biolink:NamedThing	aregenerative anemia		DOVES_relaxed.owl
MONDO:0015101	biolink:NamedThing	Marin-Amat syndrome		DOVES_relaxed.owl
MONDO:0020362	biolink:NamedThing	inverse Marcus-Gunn phenomenon	Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.	DOVES_relaxed.owl
MONDO:0015103	biolink:NamedThing	pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome	Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.	DOVES_relaxed.owl
MONDO:0020389	biolink:NamedThing	pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome		DOVES_relaxed.owl
MONDO:0043370	biolink:NamedThing	secondary adrenal insufficiency	A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex.	DOVES_relaxed.owl
MONDO:0035432	biolink:NamedThing	POMGNT2-related limb-girdle muscular dystrophy R24		DOVES_relaxed.owl
MONDO:0035433	biolink:NamedThing	calpain-3-related limb-girdle muscular dystrophy D4		DOVES_relaxed.owl
MONDO:0015158	biolink:NamedThing	unexplained periodic fever syndrome		DOVES_relaxed.owl
MONDO:0015164	biolink:NamedThing	acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent	Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).	DOVES_relaxed.owl
MONDO:0015165	biolink:NamedThing	acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor	Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.	DOVES_relaxed.owl
MONDO:0015608	biolink:NamedThing	acute myeloid leukemia and myelodysplastic syndromes related to radiation	Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.	DOVES_relaxed.owl
MONDO:0044629	biolink:NamedThing	congenital amyoplasia		DOVES_relaxed.owl
MONDO:0016544	biolink:NamedThing	IgG4-related mesenteritis	Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).	DOVES_relaxed.owl
MONDO:0018672	biolink:NamedThing	IgG4-related aortitis		DOVES_relaxed.owl
MONDO:0018674	biolink:NamedThing	IgG4-related submandibular gland disease	A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones.	DOVES_relaxed.owl
MONDO:0018676	biolink:NamedThing	eosinophilic angiocentric fibrosis		DOVES_relaxed.owl
MONDO:0020293	biolink:NamedThing	ascending aorta anomaly		DOVES_relaxed.owl
MONDO:0018082	biolink:NamedThing	aorto-ventricular tunnel	Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.	DOVES_relaxed.owl
MONDO:0019821	biolink:NamedThing	aneurysm or dilatation of ascending aorta		DOVES_relaxed.owl
MONDO:0019998	biolink:NamedThing	gastroduodenal malformation		DOVES_relaxed.owl
MONDO:0019999	biolink:NamedThing	intestinal malformation		DOVES_relaxed.owl
MONDO:0100501	biolink:NamedThing	body-stalk anomaly	A very rare anomaly (1 in 14,000 to 42,000 pregnancies; 1 in 7500 fetuses from 10 to 14 weeks of gestation) characterized by a complex anomaly of the anterior abdominal wall, severe kyphoscoliosis, rudimentary umbilical cord, and anatomical defects of the pelvis and lower limbs.	DOVES_relaxed.owl
MONDO:0700085	biolink:NamedThing	pentasomy	A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number.	DOVES_relaxed.owl
MONDO:0017864	biolink:NamedThing	congenital pulmonary veins atresia or stenosis	Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.	DOVES_relaxed.owl
MONDO:0019822	biolink:NamedThing	arterial duct anomaly		DOVES_relaxed.owl
MONDO:0019938	biolink:NamedThing	anorectal malformation		DOVES_relaxed.owl
MONDO:0015734	biolink:NamedThing	rectal duplication	Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.	DOVES_relaxed.owl
MONDO:0035782	biolink:NamedThing	non-syndromic anorectal malformation with rectourethral fistula, bulbar type		DOVES_relaxed.owl
MONDO:0035783	biolink:NamedThing	non-syndromic anorectal malformation with rectourethral fistula, prostatic type		DOVES_relaxed.owl
MONDO:0100123	biolink:NamedThing	toxic bronchiolitis	Bronchiolitis as a response to a toxic exposure.	DOVES_relaxed.owl
MONDO:0100286	biolink:NamedThing	respiratory syncytial virus bronchiolitis	Bronciolitis caused by infection with respiratory syncytial virus.	DOVES_relaxed.owl
MONDO:0800119	biolink:NamedThing	postinfectious bronchiolitis obliterans	An irreversible obstructive lung disease characterized by subepithelial inflammation and fibrotic narrowing of the bronchioles after lower respiratory tract infection during childhood, especially early childhood. Although diagnosis of PIBO should be confirmed by histopathology, it is generally based on history and clinical findings. Irreversible airway obstruction is demonstrated by decreased forced expiratory volume in 1 second with an absent bronchodilator response, and by mosaic perfusion, air trapping, and/or bronchiectasis on computed tomography images. However, lung function tests using spirometry are not feasible in young children, and most cases of PIBO develop during early childhood.	DOVES_relaxed.owl
MONDO:0800120	biolink:NamedThing	Mac-Leod-Swyer-James-Syndrome	A rare lung condidtion characterized by often predominantly unilateral lung hyperlucency and air trapping. The condition is a post-infectious form of bronchiolitis obliterans and typically follows a viral respiratory infection in infancy and childhood. Adenovirus infection is considered the most usual epidemiology. In SJS, the involved lung or portion of the lung does not grow normally and is slightly smaller than the opposite lung: in particular, peripheral branches of the pulmonary vessels do not develop, and vasculature is arreseted at the stage at which the infection occurred. Patients respond well to management with bronchodilators, even though this is not primarily a bronchial abnormality.	DOVES_relaxed.owl
MONDO:0015270	biolink:NamedThing	butyrylcholinesterase deficiency	Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.	DOVES_relaxed.owl
MONDO:0019253	biolink:NamedThing	metabolic disease involving other neurotransmitter deficiency		DOVES_relaxed.owl
MONDO:0018942	biolink:NamedThing	macrophagic myofasciitis		DOVES_relaxed.owl
MONDO:0024321	biolink:NamedThing	disorder of GPI anchor biosynthesis	A disease that has its basis in the disruption of GPI anchor biosynthetic process.	DOVES_relaxed.owl
MONDO:0015291	biolink:NamedThing	stromal keratitis	Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.	DOVES_relaxed.owl
MONDO:0015292	biolink:NamedThing	endotheliitis	An inflammatory disease involving a pathogenic inflammatory response in the endothelium.	DOVES_relaxed.owl
MONDO:0018588	biolink:NamedThing	ALECT2 amyloidosis	A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.	DOVES_relaxed.owl
MONDO:0018590	biolink:NamedThing	ABeta2M amyloidosis		DOVES_relaxed.owl
MONDO:0022444	biolink:NamedThing	amyloidosis bronchopulmonary	Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses.	DOVES_relaxed.owl
MONDO:0015312	biolink:NamedThing	choanal atresia, unilateral	Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.	DOVES_relaxed.owl
MONDO:0015313	biolink:NamedThing	choanal atresia, bilateral	Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth.	DOVES_relaxed.owl
MONDO:0017395	biolink:NamedThing	fixed pigmented erythema		DOVES_relaxed.owl
MONDO:0019810	biolink:NamedThing	toxic epidermal necrolysis	Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.	DOVES_relaxed.owl
MONDO:0044719	biolink:NamedThing	erythema multiforme major	A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area.	DOVES_relaxed.owl
MONDO:0021553	biolink:NamedThing	transverse myelitis		DOVES_relaxed.owl
MONDO:0015343	biolink:NamedThing	secondary acute transverse myelitis	Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease.	DOVES_relaxed.owl
MONDO:0035666	biolink:NamedThing	acute transverse myelitis with anti-MOG antibodies		DOVES_relaxed.owl
MONDO:0015357	biolink:NamedThing	secondary hypoparathyroidism due to impaired parathormon secretion		DOVES_relaxed.owl
MONDO:0018507	biolink:NamedThing	microcephaly-complex motor and sensory axonal neuropathy syndrome	Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.	DOVES_relaxed.owl
MONDO:0019549	biolink:NamedThing	severe early-onset axonal neuropathy due to MFN2 deficiency	A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.	DOVES_relaxed.owl
MONDO:0019550	biolink:NamedThing	hereditary motor and sensory neuropathy with acrodystrophy	A rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.	DOVES_relaxed.owl
MONDO:0060585	biolink:NamedThing	neuronopathy, distal hereditary motor, type 9		DOVES_relaxed.owl
MONDO:0016734	biolink:NamedThing	anaplastic ganglioglioma	A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0016057	biolink:NamedThing	isolated encephalocele	Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.	DOVES_relaxed.owl
MONDO:0016020	biolink:NamedThing	frontal encephalocele		DOVES_relaxed.owl
MONDO:0017080	biolink:NamedThing	occipital encephalocele		DOVES_relaxed.owl
MONDO:0017081	biolink:NamedThing	parietal encephalocele		DOVES_relaxed.owl
MONDO:0017082	biolink:NamedThing	basal encephalocele		DOVES_relaxed.owl
MONDO:0015400	biolink:NamedThing	frontonasal arteriovenous malformation	Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure.	DOVES_relaxed.owl
MONDO:0015401	biolink:NamedThing	maxillary arteriovenous malformation	Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic.	DOVES_relaxed.owl
MONDO:0015402	biolink:NamedThing	mandibular arteriovenous malformation	Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock.	DOVES_relaxed.owl
MONDO:0015403	biolink:NamedThing	non-involuting congenital hemangioma	Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute).	DOVES_relaxed.owl
MONDO:0015404	biolink:NamedThing	rapidly involuting congenital hemangioma	Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution.	DOVES_relaxed.owl
MONDO:0018716	biolink:NamedThing	partially involuting congenital hemangioma	A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion	DOVES_relaxed.owl
MONDO:0015406	biolink:NamedThing	cerebrofacial arteriovenous metameric syndrome type 1		DOVES_relaxed.owl
MONDO:0015407	biolink:NamedThing	cerebrofacial arteriovenous metameric syndrome type 3		DOVES_relaxed.owl
MONDO:0015478	biolink:NamedThing	paramedian facial cleft		DOVES_relaxed.owl
MONDO:0015414	biolink:NamedThing	paramedian nasal cleft	Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.	DOVES_relaxed.owl
MONDO:0022729	biolink:NamedThing	chondrodysplasia punctata with steroid sulfatase deficiency		DOVES_relaxed.owl
MONDO:0023472	biolink:NamedThing	chondrodysplasia situs inversus imperforate anus polydactyly		DOVES_relaxed.owl
MONDO:0700008	biolink:NamedThing	chromosome 1 disorder	Chromosomal disorder in which chromosome 1 is affected.	DOVES_relaxed.owl
MONDO:0016921	biolink:NamedThing	partial duplication of chromosome 1		DOVES_relaxed.owl
MONDO:0043085	biolink:NamedThing	chromosome 1, uniparental disomy 1q12 q21		DOVES_relaxed.owl
MONDO:0700017	biolink:NamedThing	chromosome 10 disorder	Chromosomal disorder in which chromosome 10 is affected.	DOVES_relaxed.owl
MONDO:0016931	biolink:NamedThing	partial duplication of chromosome 10		DOVES_relaxed.owl
MONDO:0700019	biolink:NamedThing	chromosome 12 disorder	Chromosomal disorder in which chromosome 12 is affected.	DOVES_relaxed.owl
MONDO:0042968	biolink:NamedThing	partial duplication of chromosome 12		DOVES_relaxed.owl
MONDO:0020583	biolink:NamedThing	chromosome 17 disorder	Chromosomal disorder in which chromosome 17 is affected.	DOVES_relaxed.owl
MONDO:0016935	biolink:NamedThing	partial duplication of chromosome 17		DOVES_relaxed.owl
MONDO:0700024	biolink:NamedThing	chromosome 19 disorder	Chromosomal disorder in which chromosome 19 is affected.	DOVES_relaxed.owl
MONDO:0016937	biolink:NamedThing	partial duplication of chromosome 19		DOVES_relaxed.owl
MONDO:0700025	biolink:NamedThing	chromosome 20 disorder	Chromosomal disorder in which chromosome 20 is affected.	DOVES_relaxed.owl
MONDO:0016938	biolink:NamedThing	partial trisomy of chromosome 20		DOVES_relaxed.owl
MONDO:0700026	biolink:NamedThing	chromosome 22 disorder	Chromosomal disorder in which chromosome 22 is affected.	DOVES_relaxed.owl
MONDO:0019891	biolink:NamedThing	monosomy 22		DOVES_relaxed.owl
MONDO:0700011	biolink:NamedThing	chromosome 4 disorder	Chromosomal disorder in which chromosome 4 is affected.	DOVES_relaxed.owl
MONDO:0016924	biolink:NamedThing	partial duplication of chromosome 4		DOVES_relaxed.owl
MONDO:0700013	biolink:NamedThing	chromosome 6 disorder	Chromosomal disorder in which chromosome 6 is affected.	DOVES_relaxed.owl
MONDO:0016927	biolink:NamedThing	partial duplication of chromosome 6		DOVES_relaxed.owl
MONDO:0700014	biolink:NamedThing	chromosome 7 disorder	Chromosomal disorder in which chromosome 7 is affected.	DOVES_relaxed.owl
MONDO:0016928	biolink:NamedThing	partial duplication of chromosome 7		DOVES_relaxed.owl
MONDO:0700015	biolink:NamedThing	chromosome 8 disorder	Chromosomal disorder in which chromosome 8 is affected.	DOVES_relaxed.owl
MONDO:0016929	biolink:NamedThing	partial duplication of chromosome 8		DOVES_relaxed.owl
MONDO:0019876	biolink:NamedThing	8p inverted duplication/deletion syndrome	8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.	DOVES_relaxed.owl
MONDO:0700035	biolink:NamedThing	monosomy chromosome 8	A chromosomal disorder consisting of the absence of one chromosome 8.	DOVES_relaxed.owl
MONDO:0015446	biolink:NamedThing	atypical coarctation of aorta	Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).	DOVES_relaxed.owl
MONDO:0017344	biolink:NamedThing	Epstein-Barr virus-associated carcinoma		DOVES_relaxed.owl
MONDO:0017348	biolink:NamedThing	lymphoepithelial-like carcinoma	Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.	DOVES_relaxed.owl
MONDO:0015471	biolink:NamedThing	benign focal seizures of adolescence		DOVES_relaxed.owl
MONDO:0800125	biolink:NamedThing	disseminated visceral giant cell angiitis	A necrotizing vasculitis characterized by widespread small-vessel giant cell angitis and extravascular granulomas.	DOVES_relaxed.owl
MONDO:0015516	biolink:NamedThing	symbrachydactyly of hands and feet	Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.	DOVES_relaxed.owl
MONDO:0017451	biolink:NamedThing	non-syndromic brachydactyly of fingers	A non-syndromic brachydactyly that involves the manus.	DOVES_relaxed.owl
MONDO:0017452	biolink:NamedThing	non-syndromic brachydactyly of toes	A non-syndromic brachydactyly that involves the pes.	DOVES_relaxed.owl
MONDO:0015520	biolink:NamedThing	late infantile CACH syndrome		DOVES_relaxed.owl
MONDO:0015521	biolink:NamedThing	juvenile or adult CACH syndrome		DOVES_relaxed.owl
MONDO:0020507	biolink:NamedThing	Cree leukoencephalopathy		DOVES_relaxed.owl
MONDO:0018712	biolink:NamedThing	composite hemangioendothelioma	An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia.	DOVES_relaxed.owl
MONDO:0018713	biolink:NamedThing	retiform hemangioendothelioma	An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels.	DOVES_relaxed.owl
MONDO:0018714	biolink:NamedThing	primary intralymphatic angioendothelioma	An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation.	DOVES_relaxed.owl
MONDO:0015529	biolink:NamedThing	paroxysmal Hemicrania	Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.	DOVES_relaxed.owl
MONDO:0018615	biolink:NamedThing	hemicrania continua	Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied.	DOVES_relaxed.owl
MONDO:0015542	biolink:NamedThing	secondary hemophagocytic lymphohistiocytosis	Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.	DOVES_relaxed.owl
MONDO:0015544	biolink:NamedThing	acquired hemophagocytic lymphohistiocytosis associated with malignant disease		DOVES_relaxed.owl
MONDO:0015545	biolink:NamedThing	macrophage activation syndrome	A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms.	DOVES_relaxed.owl
MONDO:0015554	biolink:NamedThing	typical urticaria pigmentosa		DOVES_relaxed.owl
MONDO:0019316	biolink:NamedThing	maculopapular cutaneous mastocytosis	Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.	DOVES_relaxed.owl
MONDO:0015555	biolink:NamedThing	plaque-form urticaria pigmentosa		DOVES_relaxed.owl
MONDO:0015556	biolink:NamedThing	nodular urticaria pigmentosa		DOVES_relaxed.owl
MONDO:0019576	biolink:NamedThing	telangiectasia macularis eruptiva perstans		DOVES_relaxed.owl
MONDO:0015557	biolink:NamedThing	Smouldering systemic mastocytosis	Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions.	DOVES_relaxed.owl
MONDO:0020331	biolink:NamedThing	indolent systemic mastocytosis	Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues.	DOVES_relaxed.owl
MONDO:0015558	biolink:NamedThing	isolated bone marrow mastocytosis		DOVES_relaxed.owl
MONDO:0015559	biolink:NamedThing	lymphoadenopathic mastocytosis with eosinophilia		DOVES_relaxed.owl
MONDO:0020333	biolink:NamedThing	aggressive systemic mastocytosis	Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues.	DOVES_relaxed.owl
MONDO:0015570	biolink:NamedThing	isolated congenital auditory ossicle malformation	Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance.	DOVES_relaxed.owl
MONDO:0044709	biolink:NamedThing	cochleovestibular dysplasia		DOVES_relaxed.owl
MONDO:0015574	biolink:NamedThing	chronic cutaneous lupus erythematosus	Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.	DOVES_relaxed.owl
MONDO:0041186	biolink:NamedThing	Rowell syndrome	A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities.	DOVES_relaxed.owl
MONDO:0015594	biolink:NamedThing	non-paraneoplastic limbic encephalitis		DOVES_relaxed.owl
MONDO:0850097	biolink:NamedThing	autoimmune limbic encephalitis	A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid.	DOVES_relaxed.owl
MONDO:0015590	biolink:NamedThing	classic paraneoplastic limbic encephalitis	Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed.	DOVES_relaxed.owl
MONDO:0015591	biolink:NamedThing	limbic encephalitis associated with antibodies to cell membrane antigens		DOVES_relaxed.owl
MONDO:0016317	biolink:NamedThing	limbic encephalitis with NMDA receptor antibodies	Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens.	DOVES_relaxed.owl
MONDO:0015593	biolink:NamedThing	limbic encephalitis with nCMAgs antibodies		DOVES_relaxed.owl
MONDO:0015595	biolink:NamedThing	posttransplant acute limbic encephalitis	Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.	DOVES_relaxed.owl
MONDO:0015596	biolink:NamedThing	non-herpetic acute limbic encephalitis	Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders.	DOVES_relaxed.owl
MONDO:0017179	biolink:NamedThing	limbic encephalitis with caspr2 antibodies	Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia.	DOVES_relaxed.owl
MONDO:0018003	biolink:NamedThing	limbic encephalitis with DPP6 antibodies		DOVES_relaxed.owl
MONDO:0044683	biolink:NamedThing	limbic encephalitis with neurexin-3 antibodies		DOVES_relaxed.owl
MONDO:0016019	biolink:NamedThing	Rasmussen subacute encephalitis	A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia.	DOVES_relaxed.owl
MONDO:0700028	biolink:NamedThing	chromosome Y disorder	Chromosomal disorder in which chromosome Y is affected.	DOVES_relaxed.owl
MONDO:0019935	biolink:NamedThing	isochromosome Y		DOVES_relaxed.owl
MONDO:0019137	biolink:NamedThing	non-24-hour sleep-wake syndrome	Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.	DOVES_relaxed.owl
MONDO:0024363	biolink:NamedThing	rapid eye movement sleep disorder		DOVES_relaxed.owl
MONDO:0024377	biolink:NamedThing	circadian rhythm sleep disorder, delayed sleep phase type	A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle.	DOVES_relaxed.owl
MONDO:0024378	biolink:NamedThing	circadian rhythm sleep disorder, advanced sleep phase type	A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal.	DOVES_relaxed.owl
MONDO:0024379	biolink:NamedThing	circadian rhythm sleep disorder, irregular sleep wake type	A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day.	DOVES_relaxed.owl
MONDO:0024381	biolink:NamedThing	circadian rhythm sleep disorder, jet lag type	A circadian sleep disorder that results from travelling across time zones.	DOVES_relaxed.owl
MONDO:0024382	biolink:NamedThing	circadian rhythm sleep disorder, shift work type	A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors.	DOVES_relaxed.owl
MONDO:0015619	biolink:NamedThing	non-syndromic urogenital tract malformation	A urogenital tract malformation that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0015622	biolink:NamedThing	wound myiasis		DOVES_relaxed.owl
MONDO:0018857	biolink:NamedThing	creeping myiasis		DOVES_relaxed.owl
MONDO:0018941	biolink:NamedThing	furuncular myiasis	Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis).	DOVES_relaxed.owl
MONDO:0015625	biolink:NamedThing	diazoxide-resistant diffuse hyperinsulinism	Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.	DOVES_relaxed.owl
MONDO:0019265	biolink:NamedThing	diazoxide-resistant focal hyperinsulinism	Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion.	DOVES_relaxed.owl
MONDO:0015628	biolink:NamedThing	von Willebrand disease type 2A	Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers.	DOVES_relaxed.owl
MONDO:0015629	biolink:NamedThing	von Willebrand disease type 2B	A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.	DOVES_relaxed.owl
MONDO:0015630	biolink:NamedThing	von Willebrand disease type 2M	A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers.	DOVES_relaxed.owl
MONDO:0015631	biolink:NamedThing	von Willebrand disease type 2N	Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).	DOVES_relaxed.owl
MONDO:0015995	biolink:NamedThing	melorheostosis with osteopoikilosis	Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.	DOVES_relaxed.owl
MONDO:0015638	biolink:NamedThing	benign partial epilepsy of infancy with complex partial seizures	Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.	DOVES_relaxed.owl
MONDO:0015639	biolink:NamedThing	benign partial epilepsy with secondarily generalized seizures in infancy	Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.	DOVES_relaxed.owl
MONDO:0015665	biolink:NamedThing	scleromyxedema	Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation.	DOVES_relaxed.owl
MONDO:0019446	biolink:NamedThing	localized lichen myxedematosus	Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.	DOVES_relaxed.owl
MONDO:0019447	biolink:NamedThing	atypical lichen myxedematosus	Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.	DOVES_relaxed.owl
MONDO:0017617	biolink:NamedThing	acquired adult-onset immunodeficiency	A acquired immunodeficiency that occurs in an adult.	DOVES_relaxed.owl
MONDO:0015698	biolink:NamedThing	transient hypogammaglobulinemia of infancy	A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span.	DOVES_relaxed.owl
MONDO:0015715	biolink:NamedThing	severe hemophilia B	Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	DOVES_relaxed.owl
MONDO:0015716	biolink:NamedThing	moderately severe hemophilia B	Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	DOVES_relaxed.owl
MONDO:0015717	biolink:NamedThing	mild hemophilia B	Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	DOVES_relaxed.owl
MONDO:0015788	biolink:NamedThing	symptomatic form of hemophilia B in female carriers	A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX.	DOVES_relaxed.owl
MONDO:0015724	biolink:NamedThing	non-distal trisomy 13q	Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.	DOVES_relaxed.owl
MONDO:0022177	biolink:NamedThing	chromosome 13q trisomy		DOVES_relaxed.owl
MONDO:0019886	biolink:NamedThing	distal trisomy 13q	Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.	DOVES_relaxed.owl
MONDO:0700022	biolink:NamedThing	chromosome 15 disorder	Chromosomal disorder in which chromosome 15 is affected.	DOVES_relaxed.owl
MONDO:0015729	biolink:NamedThing	mosaic trisomy 16	Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.	DOVES_relaxed.owl
MONDO:0016193	biolink:NamedThing	qualitative or quantitative defects of alpha-actin		DOVES_relaxed.owl
MONDO:0016194	biolink:NamedThing	qualitative or quantitative defects of nebulin		DOVES_relaxed.owl
MONDO:0017303	biolink:NamedThing	qualitative or quantitative defects of tropomyosin		DOVES_relaxed.owl
MONDO:0015741	biolink:NamedThing	distal trisomy 18q		DOVES_relaxed.owl
MONDO:0016968	biolink:NamedThing	partial trisomy of the long arm of chromosome 18		DOVES_relaxed.owl
MONDO:0015742	biolink:NamedThing	periventricular leukomalacia	Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles.	DOVES_relaxed.owl
MONDO:0015744	biolink:NamedThing	distal trisomy 19q	Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.	DOVES_relaxed.owl
MONDO:0016969	biolink:NamedThing	partial duplication of the long arm of chromosome 19		DOVES_relaxed.owl
MONDO:0018355	biolink:NamedThing	SIM1-related Prader-Willi-like syndrome		DOVES_relaxed.owl
MONDO:0015761	biolink:NamedThing	trisomy 10p	Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.	DOVES_relaxed.owl
MONDO:0016947	biolink:NamedThing	partial duplication of the short arm of chromosome 10		DOVES_relaxed.owl
MONDO:0700009	biolink:NamedThing	chromosome 2 disorder	Chromosomal disorder in which chromosome 2 is affected.	DOVES_relaxed.owl
MONDO:0016922	biolink:NamedThing	partial duplication of chromosome 2		DOVES_relaxed.owl
MONDO:0015764	biolink:NamedThing	mosaic trisomy 20	Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.	DOVES_relaxed.owl
MONDO:0043297	biolink:NamedThing	vibrio vulnificus infectious disease	An disease or disorder caused by infection with Vibrio vulnificus.	DOVES_relaxed.owl
MONDO:0015767	biolink:NamedThing	trisomy 4p	Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.	DOVES_relaxed.owl
MONDO:0016941	biolink:NamedThing	partial duplication of the short arm of chromosome 4		DOVES_relaxed.owl
MONDO:0015769	biolink:NamedThing	distal trisomy 6p	Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.	DOVES_relaxed.owl
MONDO:0016943	biolink:NamedThing	partial duplication of the short arm of chromosome 6	Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from aparent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0015772	biolink:NamedThing	trisomy 8q	Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size.	DOVES_relaxed.owl
MONDO:0016959	biolink:NamedThing	partial duplication of the long arm of chromosome 8		DOVES_relaxed.owl
MONDO:0016458	biolink:NamedThing	8q12 microduplication syndrome	The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.	DOVES_relaxed.owl
MONDO:0019882	biolink:NamedThing	distal trisomy 8q	Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).	DOVES_relaxed.owl
MONDO:0016412	biolink:NamedThing	peripheral hypothyroidism	Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.	DOVES_relaxed.owl
MONDO:0015783	biolink:NamedThing	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		DOVES_relaxed.owl
MONDO:0015784	biolink:NamedThing	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		DOVES_relaxed.owl
MONDO:0019614	biolink:NamedThing	pituitary deficiency due to Rathke's pouch cysts		DOVES_relaxed.owl
MONDO:0019617	biolink:NamedThing	pituitary deficiency due to empty sella turcica syndrome		DOVES_relaxed.owl
MONDO:0019844	biolink:NamedThing	pituitary hormone deficiency secondary to storage disease		DOVES_relaxed.owl
MONDO:0018561	biolink:NamedThing	precocious puberty in female	A precocious puberty that involves the female organism.	DOVES_relaxed.owl
MONDO:0015803	biolink:NamedThing	wound botulism	Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum.	DOVES_relaxed.owl
MONDO:0016468	biolink:NamedThing	toxin-mediated infectious botulism	Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism).	DOVES_relaxed.owl
MONDO:0015805	biolink:NamedThing	intestinal botulism	A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism).	DOVES_relaxed.owl
MONDO:0015804	biolink:NamedThing	infant botulism	A botulism that occurs between 28 days to one year of life..	DOVES_relaxed.owl
MONDO:0015806	biolink:NamedThing	adult intestinal botulism	A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.	DOVES_relaxed.owl
MONDO:0015808	biolink:NamedThing	folliculotropic mycosis fungoides	Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area.	DOVES_relaxed.owl
MONDO:0015809	biolink:NamedThing	localized pagetoid reticulosis	A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported.	DOVES_relaxed.owl
MONDO:0018031	biolink:NamedThing	granulomatous slack skin disease	Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin.	DOVES_relaxed.owl
MONDO:0015810	biolink:NamedThing	primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma		DOVES_relaxed.owl
MONDO:0015816	biolink:NamedThing	indolent primary cutaneous T-cell lymphoma		DOVES_relaxed.owl
MONDO:0018897	biolink:NamedThing	primary cutaneous CD30+ T-cell lymphoproliferative disease		DOVES_relaxed.owl
MONDO:0015811	biolink:NamedThing	primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma	Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared.	DOVES_relaxed.owl
MONDO:0015817	biolink:NamedThing	aggressive primary cutaneous T-cell lymphoma		DOVES_relaxed.owl
MONDO:0015812	biolink:NamedThing	primary cutaneous gamma/delta-positive T-cell lymphoma	Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.	DOVES_relaxed.owl
MONDO:0019476	biolink:NamedThing	primary cutaneous peripheral T-cell lymphoma not otherwise specified		DOVES_relaxed.owl
MONDO:0015813	biolink:NamedThing	primary cutaneous marginal zone B-cell lymphoma	Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder.	DOVES_relaxed.owl
MONDO:0015814	biolink:NamedThing	primary cutaneous follicle center lymphoma	A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin.	DOVES_relaxed.owl
MONDO:0015829	biolink:NamedThing	non-syndromic uterovaginal malformation	A uterovaginal malformation that is not part of a larger syndrome.	DOVES_relaxed.owl
MONDO:0019128	biolink:NamedThing	mullerian aplasia		DOVES_relaxed.owl
MONDO:0015849	biolink:NamedThing	longitudinal vaginal septum	A rare vaginal malformation characterized by the presence of a complete or incomplete septum dividing the vagina into two parallel cavities, resulting from failure of reabsorption of the midline uterine septum between the two fused Müllerian ducts during embryogenesis. Patients are often asymptomatic, but may present with menorrhagia, dysmenorrhea, dyspareunia, infertility, or spontaneous abortion. The condition may occur as an isolated malformation or in association with other Müllerian duct anomalies (such as septate uterus or uterus didelphys) or renal abnormalities.	DOVES_relaxed.owl
MONDO:0015850	biolink:NamedThing	transverse vaginal septum	A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea.	DOVES_relaxed.owl
MONDO:0015831	biolink:NamedThing	unilateral aplasia of the mullerian ducts		DOVES_relaxed.owl
MONDO:0015832	biolink:NamedThing	true unicornuate uterus	True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.	DOVES_relaxed.owl
MONDO:0015833	biolink:NamedThing	pseudounicornuate uterus	Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.	DOVES_relaxed.owl
MONDO:0015834	biolink:NamedThing	didelphys uterus		DOVES_relaxed.owl
MONDO:0015842	biolink:NamedThing	bicornuate uterus		DOVES_relaxed.owl
MONDO:0015837	biolink:NamedThing	Unicervical bicornuate uterus		DOVES_relaxed.owl
MONDO:0015835	biolink:NamedThing	Bicervical bicornuate uterus and blind hemivagina		DOVES_relaxed.owl
MONDO:0015836	biolink:NamedThing	Bicervical bicornuate uterus with patent cervix and vagina		DOVES_relaxed.owl
MONDO:0015838	biolink:NamedThing	cordiform uterus		DOVES_relaxed.owl
MONDO:0015843	biolink:NamedThing	uterine hypoplasia		DOVES_relaxed.owl
MONDO:0015840	biolink:NamedThing	complete septate uterus	Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.	DOVES_relaxed.owl
MONDO:0015841	biolink:NamedThing	partial septate uterus	Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.	DOVES_relaxed.owl
MONDO:0018683	biolink:NamedThing	acquired ichthyosis	Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications.	DOVES_relaxed.owl
MONDO:0043094	biolink:NamedThing	ichthyosis, follicular		DOVES_relaxed.owl
MONDO:0100025	biolink:NamedThing	epilepsy of infancy with migrating focal seizures	This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children.	DOVES_relaxed.owl
MONDO:0100026	biolink:NamedThing	myoclonic encephalopathy in non-progressive disorder	This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen.	DOVES_relaxed.owl
MONDO:0100208	biolink:NamedThing	self-limited familial neonatal-infantile epilepsy	An epilepsy syndrome associated with infantile period seizures, complete or nearly-complete seizure remission afterwards, usually good developmental outcome, and dominant transmission with high penetrance in pedigrees. For most affected infants, seizures begin within the first week after term birth. In a minority, however, seizures can begin after the first week but within the first several months of life. At onset, seizures may be highly recurrent, and often feature unilateral tonic limb stiffening that may alternate sides from seizure to seizure, accompanied by cyanosis and autonomic features. Limb shaking movements occur, but not in the evolving rhythmic pattern of tonic-clonic convulsions in older individuals. Neurological examination of the infant is normal between seizures. Although these seizures remit by 4-12 months of age in the majority, 15-30% of those affected have one or more seizure recurrences later, including febrile seizures, focal-onset seizures, and convulsions. Although most affected children show typical development, individuals with mild learning difficulties have been reported in families where the majority develop typically.	DOVES_relaxed.owl
MONDO:0016450	biolink:NamedThing	autoimmune hemolytic anemia, cold type	Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH).	DOVES_relaxed.owl
MONDO:0018358	biolink:NamedThing	neonatal autoimmune hemolytic anemia		DOVES_relaxed.owl
MONDO:0019532	biolink:NamedThing	autoimmune hemolytic anemia, warm type	Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C).	DOVES_relaxed.owl
MONDO:0019534	biolink:NamedThing	mixed-type autoimmune hemolytic anemia	Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures.	DOVES_relaxed.owl
MONDO:0019535	biolink:NamedThing	drug-induced autoimmune hemolytic anemia	Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.	DOVES_relaxed.owl
MONDO:0016061	biolink:NamedThing	immunodeficiency with factor H anomaly		DOVES_relaxed.owl
MONDO:0016331	biolink:NamedThing	infantile systemic hyalinosis	Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.	DOVES_relaxed.owl
MONDO:0016078	biolink:NamedThing	congenital systemic arteriovenous fistula		DOVES_relaxed.owl
MONDO:0016079	biolink:NamedThing	sporadic Creutzfeldt-Jakob disease	Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD).	DOVES_relaxed.owl
MONDO:0016081	biolink:NamedThing	coronary arterial fistulas	Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel.	DOVES_relaxed.owl
MONDO:0019825	biolink:NamedThing	congenital coronary artery aneurysm	Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.	DOVES_relaxed.owl
MONDO:0019826	biolink:NamedThing	abnormal origin or aberrant course of coronary artery		DOVES_relaxed.owl
MONDO:0016089	biolink:NamedThing	infantile Krabbe disease		DOVES_relaxed.owl
MONDO:0016090	biolink:NamedThing	late-infantile/juvenile Krabbe disease		DOVES_relaxed.owl
MONDO:0021142	biolink:NamedThing	acquired rippling muscle disease	The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported.	DOVES_relaxed.owl
MONDO:0016128	biolink:NamedThing	parasitic myositis		DOVES_relaxed.owl
MONDO:0016140	biolink:NamedThing	sarcoglycanopathy	Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.	DOVES_relaxed.owl
MONDO:0016149	biolink:NamedThing	qualitative or quantitative defects of merosin		DOVES_relaxed.owl
MONDO:0016154	biolink:NamedThing	qualitative or quantitative defects of myotubularin		DOVES_relaxed.owl
MONDO:0016186	biolink:NamedThing	qualitative or quantitative defects of myofibrillar proteins		DOVES_relaxed.owl
MONDO:0016197	biolink:NamedThing	qualitative or quantitative defects of selenoprotein N1		DOVES_relaxed.owl
MONDO:0018282	biolink:NamedThing	qualitative or quantitative defects of alpha-dystroglycan		DOVES_relaxed.owl
MONDO:0017743	biolink:NamedThing	disorder of O-N-acetylgalactosaminylglycan synthesis		DOVES_relaxed.owl
MONDO:0018283	biolink:NamedThing	primary qualitative or quantitative defects of alpha-dystroglycan		DOVES_relaxed.owl
MONDO:0016164	biolink:NamedThing	herpetiform pemphigus	Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated.	DOVES_relaxed.owl
MONDO:0019323	biolink:NamedThing	pemphigus erythematosus	Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.	DOVES_relaxed.owl
MONDO:0019324	biolink:NamedThing	pemphigus foliaceus	Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.	DOVES_relaxed.owl
MONDO:0016169	biolink:NamedThing	chronic acquired demyelinating polyneuropathy	Chronic form of acquired peripheral neuropathy.	DOVES_relaxed.owl
MONDO:0016176	biolink:NamedThing	axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy		DOVES_relaxed.owl
MONDO:0016179	biolink:NamedThing	acquired amyloid peripheral neuropathy		DOVES_relaxed.owl
MONDO:0017362	biolink:NamedThing	neuralgic amyotrophy	Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.	DOVES_relaxed.owl
MONDO:0018587	biolink:NamedThing	non-recovering obstetric brachial plexus lesion		DOVES_relaxed.owl
MONDO:0018873	biolink:NamedThing	anterior cutaneous nerve entrapment syndrome	Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.	DOVES_relaxed.owl
MONDO:0018957	biolink:NamedThing	pudendal neuralgia	Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction.	DOVES_relaxed.owl
MONDO:0019606	biolink:NamedThing	simple cryoglobulinemia	Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.	DOVES_relaxed.owl
MONDO:0018977	biolink:NamedThing	polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG	Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.	DOVES_relaxed.owl
MONDO:0018979	biolink:NamedThing	multifocal motor neuropathy	Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.	DOVES_relaxed.owl
MONDO:0019109	biolink:NamedThing	CANOMAD syndrome	CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy.	DOVES_relaxed.owl
MONDO:0016171	biolink:NamedThing	polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies		DOVES_relaxed.owl
MONDO:0016173	biolink:NamedThing	non-paraneoplastic sensory ganglionopathy		DOVES_relaxed.owl
MONDO:0016188	biolink:NamedThing	qualitative or quantitative defects of alphaB-cristallin		DOVES_relaxed.owl
MONDO:0016206	biolink:NamedThing	idiopathic uveal effusion syndrome		DOVES_relaxed.owl
MONDO:0016207	biolink:NamedThing	phacoanaphylactic uveitis	Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins.	DOVES_relaxed.owl
MONDO:0019198	biolink:NamedThing	sympathetic ophthalmia	Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.	DOVES_relaxed.owl
MONDO:0016209	biolink:NamedThing	benign familial nocturnal alternating hemiplegia of childhood	Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.	DOVES_relaxed.owl
MONDO:0016220	biolink:NamedThing	congenital temporomandibular joint ankylosis	Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.	DOVES_relaxed.owl
MONDO:0018793	biolink:NamedThing	primary condylar hyperplasia		DOVES_relaxed.owl
MONDO:0019536	biolink:NamedThing	typical hemolytic-uremic syndrome	Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.	DOVES_relaxed.owl
MONDO:0016249	biolink:NamedThing	hereditary site-specific ovarian cancer syndrome	Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.	DOVES_relaxed.owl
MONDO:0016304	biolink:NamedThing	classic pantothenate kinase-associated neurodegeneration		DOVES_relaxed.owl
MONDO:0016305	biolink:NamedThing	atypical pantothenate kinase-associated neurodegeneration		DOVES_relaxed.owl
MONDO:0016312	biolink:NamedThing	5-fluorouracil poisoning	5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men.	DOVES_relaxed.owl
MONDO:0800390	biolink:NamedThing	chemotherapy-induced toxicity	Toxicities following administration of chemotherapeutic agents	DOVES_relaxed.owl
MONDO:0027652	biolink:NamedThing	5-fluorouracil toxicity		DOVES_relaxed.owl
MONDO:0027664	biolink:NamedThing	cisplatin toxicity		DOVES_relaxed.owl
MONDO:0027675	biolink:NamedThing	irinotecan toxicity		DOVES_relaxed.owl
MONDO:0034212	biolink:NamedThing	methotrexate toxicity		DOVES_relaxed.owl
MONDO:0016315	biolink:NamedThing	mucopolysaccharidosis type 2, severe form	Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.	DOVES_relaxed.owl
MONDO:0016316	biolink:NamedThing	mucopolysaccharidosis type 2, attenuated form	Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.	DOVES_relaxed.owl
MONDO:0016321	biolink:NamedThing	pulmonary interstitial glycogenosis	Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD).	DOVES_relaxed.owl
MONDO:0800109	biolink:NamedThing	persistent tachypnoe of infancy	A interstial lung disease characterized by the presence of persistent or intermittent tachypnea (usually noticed in neonatal period or after an acute infection for the first time in first months of life), crackles in 86 %, retractions in 82%, failure to thrive in 66%, chest wall abnormalities in 22% and hypoxemia or desaturation in 88%.	DOVES_relaxed.owl
MONDO:0800121	biolink:NamedThing	cellular interstitial pneumonitis	An interstitial lung disease specific to infancy that is characterized by tachypnea at birth and persistent disease, diffuse interstitial thickening due to pale oval and spindle-shaped histiocytes without scarring.	DOVES_relaxed.owl
MONDO:0016332	biolink:NamedThing	hypertrophic cardiomyopathy due to intensive athletic training		DOVES_relaxed.owl
MONDO:0018932	biolink:NamedThing	cirrhotic cardiomyopathy	Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.	DOVES_relaxed.owl
MONDO:0016353	biolink:NamedThing	palmoplantar keratoderma-spastic paralysis syndrome		DOVES_relaxed.owl
MONDO:0017389	biolink:NamedThing	tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria	Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.	DOVES_relaxed.owl
MONDO:0019258	biolink:NamedThing	mild phenylketonuria	Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.	DOVES_relaxed.owl
MONDO:0019259	biolink:NamedThing	classic phenylketonuria	Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.	DOVES_relaxed.owl
MONDO:0019335	biolink:NamedThing	mild hyperphenylalaninemia	Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.	DOVES_relaxed.owl
MONDO:0016368	biolink:NamedThing	Rothmund-Thomson syndrome type 1	Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.	DOVES_relaxed.owl
MONDO:0016369	biolink:NamedThing	Rothmund-Thomson syndrome type 2	Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.	DOVES_relaxed.owl
MONDO:0016376	biolink:NamedThing	confetti-like macular atrophy		DOVES_relaxed.owl
MONDO:0016437	biolink:NamedThing	late-onset focal dermal elastosis	Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.	DOVES_relaxed.owl
MONDO:0016438	biolink:NamedThing	linear focal dermal elastosis	Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis.	DOVES_relaxed.owl
MONDO:0016439	biolink:NamedThing	elastoderma	Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery.	DOVES_relaxed.owl
MONDO:0016442	biolink:NamedThing	elastoma		DOVES_relaxed.owl
MONDO:0016443	biolink:NamedThing	papular elastorrhexis	An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities.	DOVES_relaxed.owl
MONDO:0016444	biolink:NamedThing	primary anetoderma	Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.	DOVES_relaxed.owl
MONDO:0016446	biolink:NamedThing	acquired cutis laxa	An instance of cutis laxa that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0016447	biolink:NamedThing	white fibrous papulosis of the neck	White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.	DOVES_relaxed.owl
MONDO:0016449	biolink:NamedThing	mid-dermal elastolysis		DOVES_relaxed.owl
MONDO:0016421	biolink:NamedThing	toxic oil syndrome	Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates.	DOVES_relaxed.owl
MONDO:0016588	biolink:NamedThing	infantile mercury poisoning	Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia.	DOVES_relaxed.owl
MONDO:0017638	biolink:NamedThing	manganese poisoning	Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)	DOVES_relaxed.owl
MONDO:0017859	biolink:NamedThing	colchicine poisoning	A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.	DOVES_relaxed.owl
MONDO:0017860	biolink:NamedThing	methanol poisoning	Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).	DOVES_relaxed.owl
MONDO:0017861	biolink:NamedThing	ethylene glycol poisoning	Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.	DOVES_relaxed.owl
MONDO:0017862	biolink:NamedThing	paraquat poisoning	Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.	DOVES_relaxed.owl
MONDO:0018019	biolink:NamedThing	lead poisoning	5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.	DOVES_relaxed.owl
MONDO:0018020	biolink:NamedThing	mercury poisoning	Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity.	DOVES_relaxed.owl
MONDO:0018669	biolink:NamedThing	snakebite envenomation		DOVES_relaxed.owl
MONDO:0018741	biolink:NamedThing	paracetamol poisoning		DOVES_relaxed.owl
MONDO:0018754	biolink:NamedThing	cyanide poisoning		DOVES_relaxed.owl
MONDO:0018755	biolink:NamedThing	scorpion envenomation	Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.	DOVES_relaxed.owl
MONDO:0018952	biolink:NamedThing	argyria	Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).	DOVES_relaxed.owl
MONDO:0019544	biolink:NamedThing	cocaine intoxication		DOVES_relaxed.owl
MONDO:0019545	biolink:NamedThing	systemic monochloroacetate poisoning	Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.	DOVES_relaxed.owl
MONDO:0022007	biolink:NamedThing	water intoxication	A condition resulting from the excessive retention of water with sodium depletion.	DOVES_relaxed.owl
MONDO:0023176	biolink:NamedThing	formaldehyde poisoning		DOVES_relaxed.owl
MONDO:0023305	biolink:NamedThing	heavy metal poisoning	Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure.	DOVES_relaxed.owl
MONDO:0027653	biolink:NamedThing	abacavir toxicity		DOVES_relaxed.owl
MONDO:0027655	biolink:NamedThing	allopurinol toxicity		DOVES_relaxed.owl
MONDO:0027666	biolink:NamedThing	codeine toxicity		DOVES_relaxed.owl
MONDO:0027667	biolink:NamedThing	efavirenz toxicity		DOVES_relaxed.owl
MONDO:0027668	biolink:NamedThing	flucloxacilline toxicity		DOVES_relaxed.owl
MONDO:0027677	biolink:NamedThing	isoniazid toxicity		DOVES_relaxed.owl
MONDO:0027687	biolink:NamedThing	raltegravir toxicity		DOVES_relaxed.owl
MONDO:0027696	biolink:NamedThing	voriconazole toxicity		DOVES_relaxed.owl
MONDO:0033169	biolink:NamedThing	curariform drugs toxicity		DOVES_relaxed.owl
MONDO:0033170	biolink:NamedThing	statin toxicity		DOVES_relaxed.owl
MONDO:0033181	biolink:NamedThing	phenytoin or carbamazepine toxicity		DOVES_relaxed.owl
MONDO:0035350	biolink:NamedThing	letrozole toxicity		DOVES_relaxed.owl
MONDO:0035511	biolink:NamedThing	ricin poisoning	A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of <i>Ricinus communis</i>, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure.	DOVES_relaxed.owl
MONDO:0035875	biolink:NamedThing	ivermectin toxicity		DOVES_relaxed.owl
MONDO:0035876	biolink:NamedThing	belinostat toxicity or dose selection		DOVES_relaxed.owl
MONDO:0036025	biolink:NamedThing	toxicity to dolutegravir		DOVES_relaxed.owl
MONDO:0043230	biolink:NamedThing	ciguatera fish poisoning	Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances.	DOVES_relaxed.owl
MONDO:0043339	biolink:NamedThing	lathyrism	A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus.	DOVES_relaxed.owl
MONDO:0043523	biolink:NamedThing	cadmium poisoning	Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis.	DOVES_relaxed.owl
MONDO:0060690	biolink:NamedThing	phenytoin toxicity		DOVES_relaxed.owl
MONDO:0800176	biolink:NamedThing	black widow spider envenomation	Local and/or systemic toxicity resulting from a bite from a black widow spider (Latrodectus species).	DOVES_relaxed.owl
MONDO:0800386	biolink:NamedThing	organophosphate poisoning	A poisoning that is caused by exposure to organophosphate.	DOVES_relaxed.owl
MONDO:0800387	biolink:NamedThing	sulfur mustard poisoning	A poisoning that is caused by exposure to sulfur mustard. The effects of mustard poisoning may be local, systemic, or both, depending on environmental conditions, exposed organs, and the extent and duration of exposure. The toxic effects of mustard include inhibition of mitosis, NAD depletion, decreased tissue respiration and finally cell death.	DOVES_relaxed.owl
MONDO:0800388	biolink:NamedThing	cardiac glycoside intoxication	A poisoning that is caused by exposure to cardiac glycoside.	DOVES_relaxed.owl
MONDO:0800389	biolink:NamedThing	monochloroacetic acid poisoning	A poisoning that is caused by exposure to monochloroacetic acid.	DOVES_relaxed.owl
MONDO:0016441	biolink:NamedThing	acquired pseudoxanthoma elasticum	A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type.	DOVES_relaxed.owl
MONDO:0016451	biolink:NamedThing	idiopathic hypersomnia with long sleep time	Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia.	DOVES_relaxed.owl
MONDO:0016452	biolink:NamedThing	idiopathic hypersomnia without long sleep time	Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening.	DOVES_relaxed.owl
MONDO:0016453	biolink:NamedThing	foodborne botulism	Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.	DOVES_relaxed.owl
MONDO:0016777	biolink:NamedThing	inhalational botulism	Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).	DOVES_relaxed.owl
MONDO:0016475	biolink:NamedThing	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15		DOVES_relaxed.owl
MONDO:0016476	biolink:NamedThing	Beckwith-Wiedemann syndrome due to CDKN1C mutation		DOVES_relaxed.owl
MONDO:0016478	biolink:NamedThing	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion		DOVES_relaxed.owl
MONDO:0016547	biolink:NamedThing	Beckwith-Wiedemann syndrome due to NSD1 mutation		DOVES_relaxed.owl
MONDO:0019875	biolink:NamedThing	Beckwith-Wiedemann syndrome due to 11p15 microduplication		DOVES_relaxed.owl
MONDO:0023182	biolink:NamedThing	Franceschini Vardeu Guala syndrome		DOVES_relaxed.owl
MONDO:0016944	biolink:NamedThing	partial duplication of the short arm of chromosome 7	Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0019874	biolink:NamedThing	distal trisomy 7p	Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.	DOVES_relaxed.owl
MONDO:0016948	biolink:NamedThing	partial duplication of the short arm of chromosome 11		DOVES_relaxed.owl
MONDO:0700018	biolink:NamedThing	chromosome 11 disorder	Chromosomal disorder in which chromosome 11 is affected.	DOVES_relaxed.owl
MONDO:0016932	biolink:NamedThing	partial duplication of chromosome 11		DOVES_relaxed.owl
MONDO:0016486	biolink:NamedThing	beta-thalassemia major	Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions.	DOVES_relaxed.owl
MONDO:0016487	biolink:NamedThing	beta-thalassemia intermedia	Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion.	DOVES_relaxed.owl
MONDO:0044210	biolink:NamedThing	thalassemia minor	The inheritance of only one mutated beta-globin allele (beta+ or beta0).	DOVES_relaxed.owl
MONDO:0016495	biolink:NamedThing	functional variant of Guillain-Barre syndrome		DOVES_relaxed.owl
MONDO:0016497	biolink:NamedThing	paraparetic variant of Guillain-Barre syndrome	Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.	DOVES_relaxed.owl
MONDO:0016504	biolink:NamedThing	primary unilateral adrenal hyperplasia	Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.	DOVES_relaxed.owl
MONDO:0016506	biolink:NamedThing	ectopic aldosterone-producing tumor	Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.	DOVES_relaxed.owl
MONDO:0016526	biolink:NamedThing	trisomy 9p	Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.	DOVES_relaxed.owl
MONDO:0700043	biolink:NamedThing	syndrome caused by partial chromosomal duplication of the short arm of chromosome 9		DOVES_relaxed.owl
MONDO:0018030	biolink:NamedThing	tetrasomy 9p	Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).	DOVES_relaxed.owl
MONDO:0016533	biolink:NamedThing	apolipoprotein A-II amyloidosis		DOVES_relaxed.owl
MONDO:0019731	biolink:NamedThing	AApoAI amyloidosis		DOVES_relaxed.owl
MONDO:0019732	biolink:NamedThing	ALys amyloidosis		DOVES_relaxed.owl
MONDO:0019733	biolink:NamedThing	AFib amyloidosis		DOVES_relaxed.owl
MONDO:0016534	biolink:NamedThing	infundibulo-neurohypophysitis		DOVES_relaxed.owl
MONDO:0019839	biolink:NamedThing	panhypophysitis		DOVES_relaxed.owl
MONDO:0016539	biolink:NamedThing	atypical hypotonia-cystinuria syndrome	A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).	DOVES_relaxed.owl
MONDO:0016549	biolink:NamedThing	primary megaureter, adult-onset form		DOVES_relaxed.owl
MONDO:0016550	biolink:NamedThing	congenital primary megaureter, obstructed form		DOVES_relaxed.owl
MONDO:0016551	biolink:NamedThing	congenital primary megaureter, refluxing form		DOVES_relaxed.owl
MONDO:0016552	biolink:NamedThing	congenital primary megaureter, nonrefluxing and unobstructed form		DOVES_relaxed.owl
MONDO:0035295	biolink:NamedThing	congenital primary megaureter, refluxing and obstructed form		DOVES_relaxed.owl
MONDO:0016556	biolink:NamedThing	transient congenital hypothyroidism due to neonatal factor		DOVES_relaxed.owl
MONDO:0016572	biolink:NamedThing	central bilateral macrogyria	Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children.	DOVES_relaxed.owl
MONDO:0017449	biolink:NamedThing	split hand	Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.	DOVES_relaxed.owl
MONDO:0017450	biolink:NamedThing	split foot		DOVES_relaxed.owl
MONDO:0016582	biolink:NamedThing	congenital mitral malformation		DOVES_relaxed.owl
MONDO:0016586	biolink:NamedThing	systemic mastocytosis	Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement.	DOVES_relaxed.owl
MONDO:0035445	biolink:NamedThing	chronic mast cell leukemia	A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress.	DOVES_relaxed.owl
MONDO:0016591	biolink:NamedThing	sporadic adult-onset ataxia of unknown etiology	Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.	DOVES_relaxed.owl
MONDO:0016592	biolink:NamedThing	non-hereditary degenerative ataxia		DOVES_relaxed.owl
MONDO:0016601	biolink:NamedThing	adult-onset citrullinemia type I	Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.	DOVES_relaxed.owl
MONDO:0016605	biolink:NamedThing	perinatal lethal hypophosphatasia	A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.	DOVES_relaxed.owl
MONDO:0016607	biolink:NamedThing	odontohypophosphatasia	Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.	DOVES_relaxed.owl
MONDO:0600009	biolink:NamedThing	severe hypophosphatasia	Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.	DOVES_relaxed.owl
MONDO:0600010	biolink:NamedThing	moderate hypophosphatasia	Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood.	DOVES_relaxed.owl
MONDO:0600011	biolink:NamedThing	mild hypophosphatasia	Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood.	DOVES_relaxed.owl
MONDO:0800303	biolink:NamedThing	hypophosphatasia, perinatal lethal		DOVES_relaxed.owl
MONDO:0016613	biolink:NamedThing	APC-related attenuated familial adenomatous polyposis		DOVES_relaxed.owl
MONDO:0016615	biolink:NamedThing	oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies		DOVES_relaxed.owl
MONDO:0019433	biolink:NamedThing	oligoarticular juvenile idiopathic arthritis	Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases.	DOVES_relaxed.owl
MONDO:0016616	biolink:NamedThing	oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies		DOVES_relaxed.owl
MONDO:0016617	biolink:NamedThing	rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies		DOVES_relaxed.owl
MONDO:0019432	biolink:NamedThing	rheumatoid factor-negative juvenile idiopathic arthritis	Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset.	DOVES_relaxed.owl
MONDO:0016618	biolink:NamedThing	rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies		DOVES_relaxed.owl
MONDO:0016621	biolink:NamedThing	juvenile Huntington disease	Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age.	DOVES_relaxed.owl
MONDO:0016744	biolink:NamedThing	primary melanocytic tumor of central nervous system		DOVES_relaxed.owl
MONDO:0016995	biolink:NamedThing	familial multiple meningioma	Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.	DOVES_relaxed.owl
MONDO:0700012	biolink:NamedThing	chromosome 5 disorder	Chromosomal disorder in which chromosome 5 is affected.	DOVES_relaxed.owl
MONDO:0016925	biolink:NamedThing	partial trisomy/tetrasomy of chromosome 5		DOVES_relaxed.owl
MONDO:0016657	biolink:NamedThing	8p11.2 deletion syndrome	8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.	DOVES_relaxed.owl
MONDO:0016890	biolink:NamedThing	partial deletion of the short arm of chromosome 8	Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0016659	biolink:NamedThing	8p23.1 duplication syndrome	8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).	DOVES_relaxed.owl
MONDO:0016945	biolink:NamedThing	partial duplication of the short arm of chromosome 8	Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0017013	biolink:NamedThing	trisomy 8p	Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.	DOVES_relaxed.owl
MONDO:0016661	biolink:NamedThing	infantile onset panniculitis with uveitis and systemic granulomatosis		DOVES_relaxed.owl
MONDO:0016664	biolink:NamedThing	drug-induced vasculitis	A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations.	DOVES_relaxed.owl
MONDO:0016668	biolink:NamedThing	sickle cell-beta-thalassemia disease syndrome	Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people havea differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leadsto the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0016669	biolink:NamedThing	sickle cell-hemoglobin c disease syndrome		DOVES_relaxed.owl
MONDO:0016670	biolink:NamedThing	sickle cell-hemoglobin d disease syndrome		DOVES_relaxed.owl
MONDO:0016671	biolink:NamedThing	sickle cell-hemoglobin E disease syndrome		DOVES_relaxed.owl
MONDO:0016672	biolink:NamedThing	hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		DOVES_relaxed.owl
MONDO:0016673	biolink:NamedThing	localized junctional epidermolysis bullosa, non-Herlitz type	Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails.	DOVES_relaxed.owl
MONDO:0019307	biolink:NamedThing	generalized junctional epidermolysis bullosa non-Herlitz type	Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.	DOVES_relaxed.owl
MONDO:0016681	biolink:NamedThing	gliosarcoma	A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO).	DOVES_relaxed.owl
MONDO:0016682	biolink:NamedThing	giant cell glioblastoma	A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)	DOVES_relaxed.owl
MONDO:0016702	biolink:NamedThing	oligoastrocytoma	A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)	DOVES_relaxed.owl
MONDO:0016687	biolink:NamedThing	protoplasmic astrocytoma	A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0016688	biolink:NamedThing	fibrillary astrocytoma	The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)	DOVES_relaxed.owl
MONDO:0016689	biolink:NamedThing	gemistocytic astrocytoma	A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)	DOVES_relaxed.owl
MONDO:0016724	biolink:NamedThing	papillary tumor of the pineal region	Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.	DOVES_relaxed.owl
MONDO:0016725	biolink:NamedThing	pineal parenchymal tumor of intermediate differenciation	Pineal parenchymal tumor of intermediate differentiation (PPTID) describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity.	DOVES_relaxed.owl
MONDO:0016745	biolink:NamedThing	diffuse leptomeningeal melanocytosis	Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.	DOVES_relaxed.owl
MONDO:0016782	biolink:NamedThing	paternal 14q32.2 hypomethylation syndrome		DOVES_relaxed.owl
MONDO:0016786	biolink:NamedThing	partial hydatidiform mole	Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.	DOVES_relaxed.owl
MONDO:0032746	biolink:NamedThing	hydatidiform mole, recurrent, 3		DOVES_relaxed.owl
MONDO:0032747	biolink:NamedThing	hydatidiform mole, recurrent, 4		DOVES_relaxed.owl
MONDO:0016802	biolink:NamedThing	mitochondrial protein import disorder		DOVES_relaxed.owl
MONDO:0016809	biolink:NamedThing	spinocerebellar ataxia with epilepsy		DOVES_relaxed.owl
MONDO:0016811	biolink:NamedThing	renal tubulopathy-encephalopathy-liver failure syndrome	Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders.	DOVES_relaxed.owl
MONDO:0016832	biolink:NamedThing	distal 7q11.23 microduplication syndrome	Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.	DOVES_relaxed.owl
MONDO:0016841	biolink:NamedThing	20p12.3 microdeletion syndrome	20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0016898	biolink:NamedThing	partial monosomy of the short arm of chromosome 20		DOVES_relaxed.owl
MONDO:0016842	biolink:NamedThing	paternal 20q13.2q13.3 microdeletion syndrome	Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0016918	biolink:NamedThing	partial deletion of the long arm of chromosome 20		DOVES_relaxed.owl
MONDO:0016843	biolink:NamedThing	20q13.33 microdeletion syndrome	20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.	DOVES_relaxed.owl
MONDO:0016863	biolink:NamedThing	Okihiro syndrome due to 20q13 microdeletion		DOVES_relaxed.owl
MONDO:0019899	biolink:NamedThing	distal monosomy 20q		DOVES_relaxed.owl
MONDO:0019901	biolink:NamedThing	non-distal monosomy 20q		DOVES_relaxed.owl
MONDO:0016844	biolink:NamedThing	trisomy 20p	Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.	DOVES_relaxed.owl
MONDO:0016970	biolink:NamedThing	partial trisomy of the long arm of chromosome 20		DOVES_relaxed.owl
MONDO:0016845	biolink:NamedThing	21q22.11q22.12 microdeletion syndrome		DOVES_relaxed.owl
MONDO:0017056	biolink:NamedThing	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		DOVES_relaxed.owl
MONDO:0016846	biolink:NamedThing	distal 22q11.2 microduplication syndrome	Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.	DOVES_relaxed.owl
MONDO:0020639	biolink:NamedThing	monosomy	A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number.	DOVES_relaxed.owl
MONDO:0030502	biolink:NamedThing	tetrasomy	A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.	DOVES_relaxed.owl
MONDO:0016856	biolink:NamedThing	Mowat-Wilson syndrome due to a ZEB2 point mutation		DOVES_relaxed.owl
MONDO:0016858	biolink:NamedThing	blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome	Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure.	DOVES_relaxed.owl
MONDO:0016859	biolink:NamedThing	blepharophimosis-epicanthus inversus-ptosis due to copy number variations	Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement.	DOVES_relaxed.owl
MONDO:0035524	biolink:NamedThing	blepharophimosis-ptosis-epicanthus inversus syndrome type 1		DOVES_relaxed.owl
MONDO:0035525	biolink:NamedThing	blepharophimosis-ptosis-epicanthus inversus syndrome type 2		DOVES_relaxed.owl
MONDO:0016864	biolink:NamedThing	Okihiro syndrome due to a point mutation		DOVES_relaxed.owl
MONDO:0016865	biolink:NamedThing	Kleefstra syndrome due to a point mutation		DOVES_relaxed.owl
MONDO:0027407	biolink:NamedThing	Kleefstra syndrome 1	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.	DOVES_relaxed.owl
MONDO:0054701	biolink:NamedThing	Kleefstra syndrome 2		DOVES_relaxed.owl
MONDO:0700016	biolink:NamedThing	chromosome 9 disorder	Chromosomal disorder in which chromosome 9 is affected.	DOVES_relaxed.owl
MONDO:0016930	biolink:NamedThing	partial trisomy/tetrasomy of chromosome 9		DOVES_relaxed.owl
MONDO:0016877	biolink:NamedThing	partial deletion of the long arm of chromosome 12		DOVES_relaxed.owl
MONDO:0022174	biolink:NamedThing	chromosome 12p deletion	A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12.	DOVES_relaxed.owl
MONDO:0035521	biolink:NamedThing	blepharophimosis-ptosis-epicanthus inversus syndrome plus		DOVES_relaxed.owl
MONDO:0016889	biolink:NamedThing	partial deletion of the short arm of chromosome 7	Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0700029	biolink:NamedThing	partial duplication of chromosome 13		DOVES_relaxed.owl
MONDO:0700130	biolink:NamedThing	partial segmental duplication	A chromosomal disorder consisting of the partial duplication of chromosome 21.	DOVES_relaxed.owl
MONDO:0042969	biolink:NamedThing	partial duplication of the long arm of chromosome 12	Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0016939	biolink:NamedThing	partial duplication of the short arm of chromosome 2	Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0016940	biolink:NamedThing	partial duplication of the short arm of chromosome 3	Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0016957	biolink:NamedThing	partial duplication of the long arm of chromosome 6	Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person.	DOVES_relaxed.owl
MONDO:0022173	biolink:NamedThing	chromosome 11q trisomy		DOVES_relaxed.owl
MONDO:0016966	biolink:NamedThing	partial trisomy of the long arm of chromosome 16		DOVES_relaxed.owl
MONDO:0017012	biolink:NamedThing	partial duplication of the short arm of chromosome 1		DOVES_relaxed.owl
MONDO:0016960	biolink:NamedThing	partial trisomy of the long arm of chromosome 9		DOVES_relaxed.owl
MONDO:0018659	biolink:NamedThing	partial duplication of the short arm of chromosome 19		DOVES_relaxed.owl
MONDO:0017034	biolink:NamedThing	secondary interstitial lung disease in childhood and adulthood		DOVES_relaxed.owl
MONDO:0017040	biolink:NamedThing	exposure-related interstitial lung disease		DOVES_relaxed.owl
MONDO:0020553	biolink:NamedThing	secondary pulmonary hemosiderosis	Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography	DOVES_relaxed.owl
MONDO:0017039	biolink:NamedThing	drug or radiation exposure-related interstitial lung disease		DOVES_relaxed.owl
MONDO:0018733	biolink:NamedThing	intellectual disability syndrome due to a DYRK1A point mutation		DOVES_relaxed.owl
MONDO:0036484	biolink:NamedThing	Charcot-Marie-Tooth disease, dominant intermediate G		DOVES_relaxed.owl
MONDO:0017060	biolink:NamedThing	open iniencephaly		DOVES_relaxed.owl
MONDO:0017061	biolink:NamedThing	closed iniencephaly		DOVES_relaxed.owl
MONDO:0017063	biolink:NamedThing	total spina bifida aperta		DOVES_relaxed.owl
MONDO:0017064	biolink:NamedThing	thoracolumbosacral spina bifida aperta		DOVES_relaxed.owl
MONDO:0017065	biolink:NamedThing	lumbosacral spina bifida aperta		DOVES_relaxed.owl
MONDO:0017066	biolink:NamedThing	cervical spina bifida aperta		DOVES_relaxed.owl
MONDO:0017067	biolink:NamedThing	cervicothoracic spina bifida aperta		DOVES_relaxed.owl
MONDO:0017068	biolink:NamedThing	upper thoracic spina bifida aperta		DOVES_relaxed.owl
MONDO:0017070	biolink:NamedThing	total spina bifida cystica		DOVES_relaxed.owl
MONDO:0017071	biolink:NamedThing	thoracolumbosacral spina bifida cystica		DOVES_relaxed.owl
MONDO:0017072	biolink:NamedThing	lumbosacral spina bifida cystica		DOVES_relaxed.owl
MONDO:0017073	biolink:NamedThing	cervical spina bifida cystica		DOVES_relaxed.owl
MONDO:0017074	biolink:NamedThing	cervicothoracic spina bifida cystica		DOVES_relaxed.owl
MONDO:0017075	biolink:NamedThing	upper thoracic spina bifida cystica		DOVES_relaxed.owl
MONDO:0017096	biolink:NamedThing	isolated focal cortical dysplasia type Ia		DOVES_relaxed.owl
MONDO:0017097	biolink:NamedThing	isolated focal cortical dysplasia type Ib		DOVES_relaxed.owl
MONDO:0017098	biolink:NamedThing	isolated focal cortical dysplasia type Ic		DOVES_relaxed.owl
MONDO:0017101	biolink:NamedThing	isolated focal cortical dysplasia type IIa		DOVES_relaxed.owl
MONDO:0017102	biolink:NamedThing	isolated focal cortical dysplasia type IIb		DOVES_relaxed.owl
MONDO:0017108	biolink:NamedThing	isolated total cerebellar vermis agenesis		DOVES_relaxed.owl
MONDO:0017109	biolink:NamedThing	isolated partial cerebellar vermis agenesis		DOVES_relaxed.owl
MONDO:0017110	biolink:NamedThing	isolated Dandy-Walker malformation with hydrocephalus		DOVES_relaxed.owl
MONDO:0017111	biolink:NamedThing	isolated Dandy-Walker malformation without hydrocephalus		DOVES_relaxed.owl
MONDO:0022930	biolink:NamedThing	Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia		DOVES_relaxed.owl
MONDO:0017112	biolink:NamedThing	isolated unilateral hemispheric cerebellar hypoplasia	Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.	DOVES_relaxed.owl
MONDO:0020131	biolink:NamedThing	malformation of the cerebellar hemispheres		DOVES_relaxed.owl
MONDO:0017113	biolink:NamedThing	isolated bilateral hemispheric cerebellar hypoplasia	Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.	DOVES_relaxed.owl
MONDO:0018946	biolink:NamedThing	rhombencephalosynapsis	Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.	DOVES_relaxed.owl
MONDO:0017171	biolink:NamedThing	mucopolysaccharidosis type 6, rapidly progressing		DOVES_relaxed.owl
MONDO:0017172	biolink:NamedThing	mucopolysaccharidosis type 6, slowly progressing		DOVES_relaxed.owl
MONDO:0017174	biolink:NamedThing	Machado-Joseph disease type 1	Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs.	DOVES_relaxed.owl
MONDO:0017175	biolink:NamedThing	Machado-Joseph disease type 2	Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.	DOVES_relaxed.owl
MONDO:0017176	biolink:NamedThing	Machado-Joseph disease type 3	Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.	DOVES_relaxed.owl
MONDO:0042964	biolink:NamedThing	Machado-Joseph disease type 4	A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment.	DOVES_relaxed.owl
MONDO:0042965	biolink:NamedThing	Machado-Joseph disease type 5	A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia.	DOVES_relaxed.owl
MONDO:0017291	biolink:NamedThing	reversible cerebral vasoconstriction syndrome	Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries.	DOVES_relaxed.owl
MONDO:0018624	biolink:NamedThing	spontaneous intracranial hypotension		DOVES_relaxed.owl
MONDO:0023093	biolink:NamedThing	exertional headache		DOVES_relaxed.owl
MONDO:0017188	biolink:NamedThing	diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency		DOVES_relaxed.owl
MONDO:0019334	biolink:NamedThing	autosomal recessive hyperinsulinism due to Kir6.2 deficiency		DOVES_relaxed.owl
MONDO:0017187	biolink:NamedThing	diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency		DOVES_relaxed.owl
MONDO:0019333	biolink:NamedThing	autosomal recessive hyperinsulinism due to SUR1 deficiency		DOVES_relaxed.owl
MONDO:0017191	biolink:NamedThing	sporadic pheochromocytoma		DOVES_relaxed.owl
MONDO:0017192	biolink:NamedThing	sporadic secreting paraganglioma		DOVES_relaxed.owl
MONDO:0017926	biolink:NamedThing	multiple paragangliomas associated with polycythemia		DOVES_relaxed.owl
MONDO:0023833	biolink:NamedThing	multifocal choroiditis	Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.	DOVES_relaxed.owl
MONDO:0017217	biolink:NamedThing	visceral calciphylaxis	Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.	DOVES_relaxed.owl
MONDO:0017228	biolink:NamedThing	autoimmune pancreatitis type 2	Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.	DOVES_relaxed.owl
MONDO:0017229	biolink:NamedThing	distal monosomy 12p	Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.	DOVES_relaxed.owl
MONDO:0017781	biolink:NamedThing	12p12.1 microdeletion syndrome		DOVES_relaxed.owl
MONDO:0017239	biolink:NamedThing	familial progressive hyper- and hypopigmentation	Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.	DOVES_relaxed.owl
MONDO:0017243	biolink:NamedThing	bullous diffuse cutaneous mastocytosis	Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.	DOVES_relaxed.owl
MONDO:0019315	biolink:NamedThing	diffuse cutaneous mastocytosis	Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).	DOVES_relaxed.owl
MONDO:0017244	biolink:NamedThing	pseudoxanthomatous diffuse cutaneous mastocytosis	Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.	DOVES_relaxed.owl
MONDO:0017245	biolink:NamedThing	intralobar congenital pulmonary sequestration		DOVES_relaxed.owl
MONDO:0017246	biolink:NamedThing	extralobar congenital pulmonary sequestration		DOVES_relaxed.owl
MONDO:0017247	biolink:NamedThing	communicating congenital bronchopulmonary-foregut malformation		DOVES_relaxed.owl
MONDO:0017248	biolink:NamedThing	congenital pulmonary airway malformation type 0		DOVES_relaxed.owl
MONDO:0017249	biolink:NamedThing	congenital pulmonary airway malformation type 1		DOVES_relaxed.owl
MONDO:0017250	biolink:NamedThing	congenital pulmonary airway malformation type 2		DOVES_relaxed.owl
MONDO:0017251	biolink:NamedThing	congenital pulmonary airway malformation type 3		DOVES_relaxed.owl
MONDO:0017252	biolink:NamedThing	congenital pulmonary airway malformation type 4		DOVES_relaxed.owl
MONDO:0100212	biolink:NamedThing	IFAP syndrome		DOVES_relaxed.owl
MONDO:0017289	biolink:NamedThing	fetal lung interstitial tumor		DOVES_relaxed.owl
MONDO:0020555	biolink:NamedThing	pleuropulmonary blastoma type 1	A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent.	DOVES_relaxed.owl
MONDO:0020556	biolink:NamedThing	pleuropulmonary blastoma type 2	A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course.	DOVES_relaxed.owl
MONDO:0020557	biolink:NamedThing	pleuropulmonary blastoma type 3	A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course.	DOVES_relaxed.owl
MONDO:0017758	biolink:NamedThing	disorder of vitamin and non-protein cofactor absorption and transport		DOVES_relaxed.owl
MONDO:0017334	biolink:NamedThing	12q15q21.1 microdeletion syndrome	12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.	DOVES_relaxed.owl
MONDO:0019784	biolink:NamedThing	12q14 microdeletion syndrome	12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.	DOVES_relaxed.owl
MONDO:0019897	biolink:NamedThing	distal monosomy 12q		DOVES_relaxed.owl
MONDO:0019900	biolink:NamedThing	non-distal monosomy 12q		DOVES_relaxed.owl
MONDO:0019885	biolink:NamedThing	distal trisomy 11q	Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.	DOVES_relaxed.owl
MONDO:0017360	biolink:NamedThing	vitamin B12-unresponsive methylmalonic acidemia type mut0	Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.	DOVES_relaxed.owl
MONDO:0019267	biolink:NamedThing	vitamin B12-unresponsive methylmalonic acidemia type mut-	Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.	DOVES_relaxed.owl
MONDO:0017365	biolink:NamedThing	hereditary acrokeratotic poikiloderma, Weary type		DOVES_relaxed.owl
MONDO:0017382	biolink:NamedThing	familial clubfoot due to 5q31 microdeletion		DOVES_relaxed.owl
MONDO:0017399	biolink:NamedThing	frontotemporal dementia, right temporal atrophy variant	Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.	DOVES_relaxed.owl
MONDO:0017404	biolink:NamedThing	distal Xq28 microduplication syndrome	Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.	DOVES_relaxed.owl
MONDO:0017437	biolink:NamedThing	amelia of upper limb	A non-syndromic amelia that involves the forelimb.	DOVES_relaxed.owl
MONDO:0017438	biolink:NamedThing	amelia of lower limb	A non-syndromic amelia that involves the hindlimb.	DOVES_relaxed.owl
MONDO:0017439	biolink:NamedThing	tetra-amelia		DOVES_relaxed.owl
MONDO:0017441	biolink:NamedThing	congenital absence of upper arm and forearm with hand present	A congenital malformation in which the upper portion of a limb is either shortened or absent.	DOVES_relaxed.owl
MONDO:0017442	biolink:NamedThing	congenital absence of thigh and lower leg with foot present		DOVES_relaxed.owl
MONDO:0017447	biolink:NamedThing	congenital absence/hypoplasia of thumb	Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.	DOVES_relaxed.owl
MONDO:0017462	biolink:NamedThing	congenital pseudoarthrosis of the tibia	A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1.	DOVES_relaxed.owl
MONDO:0017463	biolink:NamedThing	congenital pseudoarthrosis of the femur		DOVES_relaxed.owl
MONDO:0017464	biolink:NamedThing	congenital pseudoarthrosis of the fibula		DOVES_relaxed.owl
MONDO:0017465	biolink:NamedThing	congenital pseudoarthrosis of the radius		DOVES_relaxed.owl
MONDO:0017466	biolink:NamedThing	congenital pseudoarthrosis of the ulna		DOVES_relaxed.owl
MONDO:0017468	biolink:NamedThing	congenital shoulder dislocation		DOVES_relaxed.owl
MONDO:0017469	biolink:NamedThing	congenital elbow dislocation		DOVES_relaxed.owl
MONDO:0017470	biolink:NamedThing	congenital knee dislocation		DOVES_relaxed.owl
MONDO:0017471	biolink:NamedThing	congenital patella dislocation		DOVES_relaxed.owl
MONDO:0017472	biolink:NamedThing	patella aplasia/hypoplasia, unilateral		DOVES_relaxed.owl
MONDO:0017473	biolink:NamedThing	patella aplasia/hypoplasia, bilateral		DOVES_relaxed.owl
MONDO:0017474	biolink:NamedThing	macrodactyly of fingers		DOVES_relaxed.owl
MONDO:0017475	biolink:NamedThing	macrodactyly of toes		DOVES_relaxed.owl
MONDO:0017476	biolink:NamedThing	upper limb hypertrophy		DOVES_relaxed.owl
MONDO:0017477	biolink:NamedThing	lower limb hypertrophy	Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.	DOVES_relaxed.owl
MONDO:0017478	biolink:NamedThing	amelia of upper limb, unilateral		DOVES_relaxed.owl
MONDO:0017479	biolink:NamedThing	amelia of upper limb, bilateral		DOVES_relaxed.owl
MONDO:0017480	biolink:NamedThing	amelia of lower limb, unilateral		DOVES_relaxed.owl
MONDO:0017481	biolink:NamedThing	amelia of lower limb, bilateral		DOVES_relaxed.owl
MONDO:0017482	biolink:NamedThing	humeral agenesis/hypoplasia, unilateral		DOVES_relaxed.owl
MONDO:0017483	biolink:NamedThing	humeral agenesis/hypoplasia, bilateral		DOVES_relaxed.owl
MONDO:0017484	biolink:NamedThing	femoral agenesis/hypoplasia, unilateral		DOVES_relaxed.owl
MONDO:0017485	biolink:NamedThing	femoral agenesis/hypoplasia, bilateral		DOVES_relaxed.owl
MONDO:0017486	biolink:NamedThing	radial hemimelia, unilateral		DOVES_relaxed.owl
MONDO:0017487	biolink:NamedThing	radial hemimelia, bilateral		DOVES_relaxed.owl
MONDO:0017488	biolink:NamedThing	ulnar hemimelia, bilateral		DOVES_relaxed.owl
MONDO:0017489	biolink:NamedThing	ulnar hemimelia, unilateral		DOVES_relaxed.owl
MONDO:0017490	biolink:NamedThing	tibial hemimelia, unilateral		DOVES_relaxed.owl
MONDO:0017491	biolink:NamedThing	tibial hemimelia, bilateral		DOVES_relaxed.owl
MONDO:0017492	biolink:NamedThing	fibular hemimelia, unilateral		DOVES_relaxed.owl
MONDO:0017493	biolink:NamedThing	fibular hemimelia, bilateral		DOVES_relaxed.owl
MONDO:0017496	biolink:NamedThing	congenital absence of thigh and lower leg with foot present, unilateral		DOVES_relaxed.owl
MONDO:0017497	biolink:NamedThing	congenital absence of thigh and lower leg with foot present, bilateral		DOVES_relaxed.owl
MONDO:0017498	biolink:NamedThing	congenital absence of both forearm and hand, unilateral	Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved.	DOVES_relaxed.owl
MONDO:0017499	biolink:NamedThing	congenital absence of both forearm and hand, bilateral	Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand.	DOVES_relaxed.owl
MONDO:0017500	biolink:NamedThing	congenital absence of both lower leg and foot, unilateral		DOVES_relaxed.owl
MONDO:0017501	biolink:NamedThing	congenital absence of both lower leg and foot, bilateral		DOVES_relaxed.owl
MONDO:0017502	biolink:NamedThing	acheiria, unilateral		DOVES_relaxed.owl
MONDO:0017503	biolink:NamedThing	acheiria, bilateral		DOVES_relaxed.owl
MONDO:0017504	biolink:NamedThing	apodia, unilateral		DOVES_relaxed.owl
MONDO:0017505	biolink:NamedThing	apodia, bilateral		DOVES_relaxed.owl
MONDO:0017506	biolink:NamedThing	congenital absence/hypoplasia of thumb, unilateral	Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb.	DOVES_relaxed.owl
MONDO:0017507	biolink:NamedThing	congenital absence/hypoplasia of thumb, bilateral	Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias.	DOVES_relaxed.owl
MONDO:0017509	biolink:NamedThing	adactyly of foot, unilateral		DOVES_relaxed.owl
MONDO:0017510	biolink:NamedThing	adactyly of foot, bilateral		DOVES_relaxed.owl
MONDO:0017511	biolink:NamedThing	split hand, unilateral	Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.	DOVES_relaxed.owl
MONDO:0017512	biolink:NamedThing	split hand, bilateral	Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.	DOVES_relaxed.owl
MONDO:0017513	biolink:NamedThing	split foot, unilateral		DOVES_relaxed.owl
MONDO:0017514	biolink:NamedThing	split foot, bilateral		DOVES_relaxed.owl
MONDO:0017515	biolink:NamedThing	brachydactyly of fingers, unilateral		DOVES_relaxed.owl
MONDO:0017516	biolink:NamedThing	brachydactyly of fingers, bilateral		DOVES_relaxed.owl
MONDO:0017517	biolink:NamedThing	brachydactyly of toes, unilateral		DOVES_relaxed.owl
MONDO:0017518	biolink:NamedThing	brachydactyly of toes, bilateral		DOVES_relaxed.owl
MONDO:0017519	biolink:NamedThing	symbrachydactyly of hand and foot, unilateral		DOVES_relaxed.owl
MONDO:0017520	biolink:NamedThing	symbrachydactyly of hand and foot, bilateral		DOVES_relaxed.owl
MONDO:0017521	biolink:NamedThing	hyperphalangy, unilateral		DOVES_relaxed.owl
MONDO:0017522	biolink:NamedThing	hyperphalangy, bilateral		DOVES_relaxed.owl
MONDO:0017523	biolink:NamedThing	polydactyly of a biphalangeal thumb, unilateral		DOVES_relaxed.owl
MONDO:0017524	biolink:NamedThing	polydactyly of a biphalangeal thumb, bilateral		DOVES_relaxed.owl
MONDO:0017525	biolink:NamedThing	polydactyly of a triphalangeal thumb, unilateral		DOVES_relaxed.owl
MONDO:0017526	biolink:NamedThing	polydactyly of a triphalangeal thumb, bilateral		DOVES_relaxed.owl
MONDO:0017527	biolink:NamedThing	polydactyly of an index finger, unilateral		DOVES_relaxed.owl
MONDO:0017528	biolink:NamedThing	polydactyly of an index finger, bilateral		DOVES_relaxed.owl
MONDO:0017529	biolink:NamedThing	polysyndactyly, unilateral		DOVES_relaxed.owl
MONDO:0017530	biolink:NamedThing	polysyndactyly, bilateral		DOVES_relaxed.owl
MONDO:0017533	biolink:NamedThing	postaxial polydactyly type B, unilateral		DOVES_relaxed.owl
MONDO:0019674	biolink:NamedThing	postaxial polydactyly type B		DOVES_relaxed.owl
MONDO:0017534	biolink:NamedThing	postaxial polydactyly type B, bilateral		DOVES_relaxed.owl
MONDO:0017535	biolink:NamedThing	central polydactyly of fingers, unilateral		DOVES_relaxed.owl
MONDO:0017536	biolink:NamedThing	central polydactyly of fingers, bilateral		DOVES_relaxed.owl
MONDO:0017537	biolink:NamedThing	Preaxial polydactyly of toes, unilateral		DOVES_relaxed.owl
MONDO:0017538	biolink:NamedThing	Preaxial polydactyly of toes, bilateral		DOVES_relaxed.owl
MONDO:0017546	biolink:NamedThing	congenital vertical talus, unilateral		DOVES_relaxed.owl
MONDO:0017547	biolink:NamedThing	congenital vertical talus, bilateral		DOVES_relaxed.owl
MONDO:0017548	biolink:NamedThing	humero-radio-ulnar synostosis, unilateral		DOVES_relaxed.owl
MONDO:0017549	biolink:NamedThing	humero-radio-ulnar synostosis, bilateral		DOVES_relaxed.owl
MONDO:0017552	biolink:NamedThing	humero-ulnar synostosis, unilateral		DOVES_relaxed.owl
MONDO:0017553	biolink:NamedThing	humero-ulnar synostosis, bilateral		DOVES_relaxed.owl
MONDO:0017556	biolink:NamedThing	Madelung deformity, unilateral		DOVES_relaxed.owl
MONDO:0017557	biolink:NamedThing	Madelung deformity, bilateral		DOVES_relaxed.owl
MONDO:0017558	biolink:NamedThing	congenital elbow dislocation, unilateral		DOVES_relaxed.owl
MONDO:0017559	biolink:NamedThing	congenital elbow dislocation, bilateral		DOVES_relaxed.owl
MONDO:0017560	biolink:NamedThing	congenital genu recurvatum	An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.	DOVES_relaxed.owl
MONDO:0017561	biolink:NamedThing	congenital genu flexum		DOVES_relaxed.owl
MONDO:0017562	biolink:NamedThing	congenital patella dislocation, unilateral		DOVES_relaxed.owl
MONDO:0017563	biolink:NamedThing	congenital patella dislocation, bilateral		DOVES_relaxed.owl
MONDO:0017564	biolink:NamedThing	macrodactyly of fingers, unilateral		DOVES_relaxed.owl
MONDO:0017565	biolink:NamedThing	macrodactyly of fingers, bilateral		DOVES_relaxed.owl
MONDO:0017566	biolink:NamedThing	macrodactyly of toes, unilateral		DOVES_relaxed.owl
MONDO:0017567	biolink:NamedThing	macrodactyly of toes, bilateral		DOVES_relaxed.owl
MONDO:0020326	biolink:NamedThing	lymphomatoid papulosis	Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features.	DOVES_relaxed.owl
MONDO:0017618	biolink:NamedThing	congenital sucrase-isomaltase deficiency with starch intolerance		DOVES_relaxed.owl
MONDO:0017619	biolink:NamedThing	congenital sucrase-isomaltase deficiency with minimal starch tolerance		DOVES_relaxed.owl
MONDO:0017620	biolink:NamedThing	congenital sucrase-isomaltase deficiency without starch intolerance		DOVES_relaxed.owl
MONDO:0017621	biolink:NamedThing	congenital sucrase-isomaltase deficiency with starch and lactose intolerance		DOVES_relaxed.owl
MONDO:0017622	biolink:NamedThing	congenital sucrase-isomaltase deficiency without sucrose intolerance		DOVES_relaxed.owl
MONDO:0023250	biolink:NamedThing	global disaccharide intolerance		DOVES_relaxed.owl
MONDO:0850088	biolink:NamedThing	EGF-related primary hypomagnesemia with intellectual disability		DOVES_relaxed.owl
MONDO:0017659	biolink:NamedThing	sporadic hyperekplexia		DOVES_relaxed.owl
MONDO:0017694	biolink:NamedThing	glycogen storage disease due to acid maltase deficiency, infantile onset	Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.	DOVES_relaxed.owl
MONDO:0018485	biolink:NamedThing	glycogen storage disease due to acid maltase deficiency, late-onset	Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.	DOVES_relaxed.owl
MONDO:0017703	biolink:NamedThing	disorder of glyoxylate metabolism		DOVES_relaxed.owl
MONDO:0100257	biolink:NamedThing	peroxisomal single enzyme/protein defect	Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.	DOVES_relaxed.owl
MONDO:0100277	biolink:NamedThing	disorder of peroxisomal alpha oxidation	Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion.	DOVES_relaxed.owl
MONDO:0100304	biolink:NamedThing	disorder of bile acid aminotransferase	Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase.	DOVES_relaxed.owl
MONDO:0017710	biolink:NamedThing	congenital systemic veins anomaly		DOVES_relaxed.owl
MONDO:0017711	biolink:NamedThing	pancreatic colipase deficiency		DOVES_relaxed.owl
MONDO:0017712	biolink:NamedThing	combined pancreatic lipase-colipase deficiency	A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.	DOVES_relaxed.owl
MONDO:0017721	biolink:NamedThing	Sandhoff disease, infantile form		DOVES_relaxed.owl
MONDO:0017722	biolink:NamedThing	Sandhoff disease, juvenile form		DOVES_relaxed.owl
MONDO:0017723	biolink:NamedThing	Sandhoff disease, adult form	A Sandhoff disease that occurs in an adult.	DOVES_relaxed.owl
MONDO:0017724	biolink:NamedThing	Tay-Sachs disease, b variant, infantile form		DOVES_relaxed.owl
MONDO:0017725	biolink:NamedThing	Tay-Sachs disease, b variant, juvenile form		DOVES_relaxed.owl
MONDO:0017726	biolink:NamedThing	Tay-Sachs disease, b variant, adult form		DOVES_relaxed.owl
MONDO:0017728	biolink:NamedThing	Tay-Sachs disease, B1 variant		DOVES_relaxed.owl
MONDO:0017729	biolink:NamedThing	metachromatic leukodystrophy, late infantile form		DOVES_relaxed.owl
MONDO:0017730	biolink:NamedThing	metachromatic leukodystrophy, adult form		DOVES_relaxed.owl
MONDO:0017732	biolink:NamedThing	alpha-mannosidosis, infantile form		DOVES_relaxed.owl
MONDO:0017733	biolink:NamedThing	alpha-mannosidosis, adult form		DOVES_relaxed.owl
MONDO:0017761	biolink:NamedThing	disorder of mineral absorption and transport		DOVES_relaxed.owl
MONDO:0017765	biolink:NamedThing	disorder of magnesium transport	An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport.	DOVES_relaxed.owl
MONDO:0017776	biolink:NamedThing	nocardiosis	Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection.	DOVES_relaxed.owl
MONDO:0019440	biolink:NamedThing	wild type ABeta2M amyloidosis		DOVES_relaxed.owl
MONDO:0017815	biolink:NamedThing	acquired porencephaly	An instance of porencephaly that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0017816	biolink:NamedThing	primary systemic amyloidosis	Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement.	DOVES_relaxed.owl
MONDO:0017817	biolink:NamedThing	primary localized amyloidosis	Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin.	DOVES_relaxed.owl
MONDO:0017819	biolink:NamedThing	atypical dentin dysplasia due to SMOC2 deficiency		DOVES_relaxed.owl
MONDO:0017823	biolink:NamedThing	somatomammotropinoma		DOVES_relaxed.owl
MONDO:0017825	biolink:NamedThing	silent pituitary adenoma		DOVES_relaxed.owl
MONDO:0017826	biolink:NamedThing	null pituitary adenoma		DOVES_relaxed.owl
MONDO:0017830	biolink:NamedThing	severe Canavan disease	Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.	DOVES_relaxed.owl
MONDO:0017831	biolink:NamedThing	mild Canavan disease	Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.	DOVES_relaxed.owl
MONDO:0017835	biolink:NamedThing	lymphocytic hypereosinophilic syndrome		DOVES_relaxed.owl
MONDO:0017839	biolink:NamedThing	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form	The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.	DOVES_relaxed.owl
MONDO:0017840	biolink:NamedThing	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form	The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.	DOVES_relaxed.owl
MONDO:0017850	biolink:NamedThing	sirenomelia	Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.	DOVES_relaxed.owl
MONDO:0017863	biolink:NamedThing	digitalis poisoning	Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.	DOVES_relaxed.owl
MONDO:0020499	biolink:NamedThing	Nipah virus disease	Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness.	DOVES_relaxed.owl
MONDO:0019608	biolink:NamedThing	46,XX disorder of sex development induced by maternal-derived androgen		DOVES_relaxed.owl
MONDO:0017963	biolink:NamedThing	46,XX disorder of sex development induced by endogenous maternal-derived androgen		DOVES_relaxed.owl
MONDO:0017964	biolink:NamedThing	46,XX disorder of sex development induced by exogenous maternal-derived androgen		DOVES_relaxed.owl
MONDO:0017972	biolink:NamedThing	classic congenital lipoid adrenal hyperplasia due to STAR deficency		DOVES_relaxed.owl
MONDO:0017988	biolink:NamedThing	multifocal atrial tachycardia	Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.	DOVES_relaxed.owl
MONDO:0018685	biolink:NamedThing	incessant infant ventricular tachycardia	Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.	DOVES_relaxed.owl
MONDO:0020413	biolink:NamedThing	encircling double aortic arch	Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.	DOVES_relaxed.owl
MONDO:0020414	biolink:NamedThing	persistent fifth aortic arch		DOVES_relaxed.owl
MONDO:0020415	biolink:NamedThing	Kommerell diverticulum	Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.	DOVES_relaxed.owl
MONDO:0020416	biolink:NamedThing	Neuhauser anomaly	Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).	DOVES_relaxed.owl
MONDO:0020417	biolink:NamedThing	right aortic arch	An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided.	DOVES_relaxed.owl
MONDO:0020418	biolink:NamedThing	dysphagia lusoria		DOVES_relaxed.owl
MONDO:0018004	biolink:NamedThing	acute megakaryoblastic leukemia without down syndrome		DOVES_relaxed.owl
MONDO:0020526	biolink:NamedThing	acute megakaryoblastic leukemia in down syndrome		DOVES_relaxed.owl
MONDO:0018026	biolink:NamedThing	tetraploidy syndrome	The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages.	DOVES_relaxed.owl
MONDO:0022991	biolink:NamedThing	diploid-triploid mosaicism	Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells.	DOVES_relaxed.owl
MONDO:0021133	biolink:NamedThing	acquired factor XIII deficiency	An acquired coagulation disorder due to reduced levels and activity of factor XIII.	DOVES_relaxed.owl
MONDO:0019555	biolink:NamedThing	panniculitis and localized lipodystrophy		DOVES_relaxed.owl
MONDO:0019561	biolink:NamedThing	lupus erythematosus panniculitis	A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45.	DOVES_relaxed.owl
MONDO:0700020	biolink:NamedThing	chromosome 13 disorder	Chromosomal disorder in which chromosome 13 is affected.	DOVES_relaxed.owl
MONDO:0022178	biolink:NamedThing	chromosome 13q-mosaicism		DOVES_relaxed.owl
MONDO:0018141	biolink:NamedThing	pyruvate carboxylase deficiency, infantile form	Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.	DOVES_relaxed.owl
MONDO:0018142	biolink:NamedThing	pyruvate carboxylase deficiency, severe neonatal type	Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.	DOVES_relaxed.owl
MONDO:0018143	biolink:NamedThing	pyruvate carboxylase deficiency, benign type	Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.	DOVES_relaxed.owl
MONDO:0018167	biolink:NamedThing	primary essential cutis verticis gyrata	Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.	DOVES_relaxed.owl
MONDO:0018168	biolink:NamedThing	primary non-essential cutis verticis gyrata		DOVES_relaxed.owl
MONDO:0022912	biolink:NamedThing	cutis verticis gyrata mental deficiency		DOVES_relaxed.owl
MONDO:0020540	biolink:NamedThing	ovarian gynandroblastoma	A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both.	DOVES_relaxed.owl
MONDO:0020807	biolink:NamedThing	ovarian sertoli-stromal cell tumor	A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells.	DOVES_relaxed.owl
MONDO:0018180	biolink:NamedThing	staphylococcal scarlet fever		DOVES_relaxed.owl
MONDO:0020545	biolink:NamedThing	staphylococcal toxic-shock syndrome	Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection.	DOVES_relaxed.owl
MONDO:0019888	biolink:NamedThing	distal trisomy 20q	Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.	DOVES_relaxed.owl
MONDO:0018209	biolink:NamedThing	Alexander disease type I	Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.	DOVES_relaxed.owl
MONDO:0018210	biolink:NamedThing	Alexander disease type II	Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.	DOVES_relaxed.owl
MONDO:0018217	biolink:NamedThing	Koolen-de Vries syndrome due to a point mutation		DOVES_relaxed.owl
MONDO:0018890	biolink:NamedThing	Lyell syndrome	Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.	DOVES_relaxed.owl
MONDO:0044739	biolink:NamedThing	Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome		DOVES_relaxed.owl
MONDO:0019802	biolink:NamedThing	secondary short bowel syndrome	Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.	DOVES_relaxed.owl
MONDO:0100276	biolink:NamedThing	disorder of defective peroxisomal and mitochondrial fission	A disease that has its basis in the disruption of peroxisome and mitochondrial fission.	DOVES_relaxed.owl
MONDO:0020509	biolink:NamedThing	secondary syringomyelia	Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.	DOVES_relaxed.owl
MONDO:0018322	biolink:NamedThing	HSD10 disease, infantile type	HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age.	DOVES_relaxed.owl
MONDO:0018323	biolink:NamedThing	HSD10 disease, neonatal type	HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.	DOVES_relaxed.owl
MONDO:0037149	biolink:NamedThing	HSD10 disease, atypical type		DOVES_relaxed.owl
MONDO:0018357	biolink:NamedThing	neonatal antiphospholipid syndrome		DOVES_relaxed.owl
MONDO:0018332	biolink:NamedThing	multiple acyl-CoA dehydrogenase deficiency, severe neonatal type		DOVES_relaxed.owl
MONDO:0018333	biolink:NamedThing	multiple acyl-CoA dehydrogenase deficiency, mild type		DOVES_relaxed.owl
MONDO:0700073	biolink:NamedThing	glutaric acidemia IIa	Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene.	DOVES_relaxed.owl
MONDO:0700074	biolink:NamedThing	glutaric acidemia IIb	Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene.	DOVES_relaxed.owl
MONDO:0700076	biolink:NamedThing	glutaric acidemia IIc	Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene.	DOVES_relaxed.owl
MONDO:0018408	biolink:NamedThing	cystic echinococcosis		DOVES_relaxed.owl
MONDO:0018456	biolink:NamedThing	polyarticular juvenile idiopathic arthritis		DOVES_relaxed.owl
MONDO:0019436	biolink:NamedThing	psoriasis-related juvenile idiopathic arthritis	Childhood arthritis typically associated with psoriasis.	DOVES_relaxed.owl
MONDO:0019437	biolink:NamedThing	enthesitis-related juvenile idiopathic arthritis	Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.	DOVES_relaxed.owl
MONDO:0019607	biolink:NamedThing	unspecified juvenile idiopathic arthritis	Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.	DOVES_relaxed.owl
MONDO:0018461	biolink:NamedThing	Angelman syndrome due to a point mutation		DOVES_relaxed.owl
MONDO:0018462	biolink:NamedThing	Angelman syndrome due to imprinting defect in 15q11-q13		DOVES_relaxed.owl
MONDO:0018463	biolink:NamedThing	mild phosphoribosylpyrophosphate synthetase superactivity	Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.	DOVES_relaxed.owl
MONDO:0018464	biolink:NamedThing	severe phosphoribosylpyrophosphate synthetase superactivity	Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.	DOVES_relaxed.owl
MONDO:0018471	biolink:NamedThing	generalized eruptive keratoacanthoma	Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.	DOVES_relaxed.owl
MONDO:0018472	biolink:NamedThing	familial isolated trichomegaly	Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.	DOVES_relaxed.owl
MONDO:0018498	biolink:NamedThing	double outlet right ventricle with subaortic or doubly committed ventricular septal defect		DOVES_relaxed.owl
MONDO:0018499	biolink:NamedThing	double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy		DOVES_relaxed.owl
MONDO:0020386	biolink:NamedThing	double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis		DOVES_relaxed.owl
MONDO:0020387	biolink:NamedThing	double outlet right ventricle with subpulmonary ventricular septal defect		DOVES_relaxed.owl
MONDO:0020388	biolink:NamedThing	double outlet right ventricle with non-committed subpulmonary ventricular septal defect		DOVES_relaxed.owl
MONDO:0018551	biolink:NamedThing	patent urachus	Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.	DOVES_relaxed.owl
MONDO:0018552	biolink:NamedThing	urachal sinus	Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.	DOVES_relaxed.owl
MONDO:0018553	biolink:NamedThing	urachal diverticulum	Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.	DOVES_relaxed.owl
MONDO:0018844	biolink:NamedThing	urachal cyst	Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.	DOVES_relaxed.owl
MONDO:0018581	biolink:NamedThing	progressive encephalomyelitis with rigidity and myoclonus		DOVES_relaxed.owl
MONDO:0018625	biolink:NamedThing	classic stiff person syndrome		DOVES_relaxed.owl
MONDO:0018629	biolink:NamedThing	focal stiff limb syndrome		DOVES_relaxed.owl
MONDO:0018592	biolink:NamedThing	cutaneous polyarteritis nodosa	Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.	DOVES_relaxed.owl
MONDO:0018593	biolink:NamedThing	primary polyarteritis nodosa		DOVES_relaxed.owl
MONDO:0018595	biolink:NamedThing	single-organ polyarteritis nodosa	Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common.	DOVES_relaxed.owl
MONDO:0018596	biolink:NamedThing	systemic polyarteritis nodosa	Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.	DOVES_relaxed.owl
MONDO:0018594	biolink:NamedThing	secondary polyarteritis nodosa	Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).	DOVES_relaxed.owl
MONDO:0018611	biolink:NamedThing	early-onset lamellar cataract		DOVES_relaxed.owl
MONDO:0020378	biolink:NamedThing	early-onset posterior polar cataract		DOVES_relaxed.owl
MONDO:0044013	biolink:NamedThing	puerperal disorder	Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans.	DOVES_relaxed.owl
MONDO:0018670	biolink:NamedThing	symptomatic form of fragile X syndrome in female carrier		DOVES_relaxed.owl
MONDO:0023178	biolink:NamedThing	fragile X syndrome type 1		DOVES_relaxed.owl
MONDO:0023179	biolink:NamedThing	fragile X syndrome type 2		DOVES_relaxed.owl
MONDO:0023180	biolink:NamedThing	fragile X syndrome type 3		DOVES_relaxed.owl
MONDO:0019807	biolink:NamedThing	mesocardia		DOVES_relaxed.owl
MONDO:0018708	biolink:NamedThing	squamous cell carcinoma of the oral tongue		DOVES_relaxed.owl
MONDO:0018740	biolink:NamedThing	drug-induced methemoglobinemia	Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene).	DOVES_relaxed.owl
MONDO:0019823	biolink:NamedThing	premature closure of the arterial duct	Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.	DOVES_relaxed.owl
MONDO:0020412	biolink:NamedThing	congenital patent ductus arteriosus aneurysm	Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.	DOVES_relaxed.owl
MONDO:0018767	biolink:NamedThing	severe primary trimethylaminuria	Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene.	DOVES_relaxed.owl
MONDO:0100041	biolink:NamedThing	secondary trimethylaminuria	A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine.	DOVES_relaxed.owl
MONDO:0018811	biolink:NamedThing	congenital portosystemic shunt	Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.	DOVES_relaxed.owl
MONDO:0019829	biolink:NamedThing	congenital anomaly of superior vena cava		DOVES_relaxed.owl
MONDO:0019830	biolink:NamedThing	congenital anomaly of the inferior vena cava		DOVES_relaxed.owl
MONDO:0019831	biolink:NamedThing	congenital anomaly of the coronary sinus		DOVES_relaxed.owl
MONDO:0019836	biolink:NamedThing	congenital anomaly of hepatic vein		DOVES_relaxed.owl
MONDO:0018826	biolink:NamedThing	Lewis-Sumner syndrome	A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.	DOVES_relaxed.owl
MONDO:0020789	biolink:NamedThing	pseudo-TORCH syndrome 1		DOVES_relaxed.owl
MONDO:0030044	biolink:NamedThing	pseudo-TORCH syndrome 3		DOVES_relaxed.owl
MONDO:0018839	biolink:NamedThing	acquired schizencephaly	An instance of schizencephaly that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0030941	biolink:NamedThing	erythrokeratodermia variabilis et progressiva 7		DOVES_relaxed.owl
MONDO:0032801	biolink:NamedThing	erythrokeratodermia variabilis et progressiva 6		DOVES_relaxed.owl
MONDO:0033010	biolink:NamedThing	erythrokeratodermia variabilis et progressiva 1		DOVES_relaxed.owl
MONDO:0033012	biolink:NamedThing	erythrokeratodermia variabilis et progressiva 2		DOVES_relaxed.owl
MONDO:0033013	biolink:NamedThing	erythrokeratodermia variabilis et progressiva 3		DOVES_relaxed.owl
MONDO:0033014	biolink:NamedThing	erythrokeratodermia variabilis et progressiva 4		DOVES_relaxed.owl
MONDO:0033015	biolink:NamedThing	erythrokeratodermia variabilis et progressiva 5		DOVES_relaxed.owl
MONDO:0018877	biolink:NamedThing	retinitis punctata albescens		DOVES_relaxed.owl
MONDO:0018922	biolink:NamedThing	cold agglutinin disease	Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C).	DOVES_relaxed.owl
MONDO:0019533	biolink:NamedThing	paroxysmal cold hemoglobinuria	Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.	DOVES_relaxed.owl
MONDO:0043219	biolink:NamedThing	migraine with brainstem aura	A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem.	DOVES_relaxed.owl
MONDO:0020384	biolink:NamedThing	Niemann-Pick disease type E	Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease.	DOVES_relaxed.owl
MONDO:0850058	biolink:NamedThing	chronic neurovisceral acid sphingomyelinase deficiency		DOVES_relaxed.owl
MONDO:0019067	biolink:NamedThing	idiopathic steroid-sensitive nephrotic syndrome	Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits.	DOVES_relaxed.owl
MONDO:0019401	biolink:NamedThing	sporadic idiopathic steroid-resistant nephrotic syndrome	Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema.	DOVES_relaxed.owl
MONDO:0035459	biolink:NamedThing	idiopathic multidrug-resistant nephrotic syndrome		DOVES_relaxed.owl
MONDO:0035460	biolink:NamedThing	idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy		DOVES_relaxed.owl
MONDO:0044781	biolink:NamedThing	nephrotic syndrome of childhood - steroid sensitive	Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids.	DOVES_relaxed.owl
MONDO:0019013	biolink:NamedThing	non-histaminic angioedema	Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.	DOVES_relaxed.owl
MONDO:0023660	biolink:NamedThing	angioedema, hereditary, 6		DOVES_relaxed.owl
MONDO:0025712	biolink:NamedThing	angioedema, hereditary, 4		DOVES_relaxed.owl
MONDO:0025713	biolink:NamedThing	angioedema, hereditary, 7		DOVES_relaxed.owl
MONDO:0030293	biolink:NamedThing	angioedema, hereditary, 5		DOVES_relaxed.owl
MONDO:0030298	biolink:NamedThing	angioedema, hereditary, 8		DOVES_relaxed.owl
MONDO:0035734	biolink:NamedThing	hereditary angioedema with normal C1inh not related to F12 or PLG variant		DOVES_relaxed.owl
MONDO:0019025	biolink:NamedThing	extracutaneous mastocytoma	A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003	DOVES_relaxed.owl
MONDO:0020332	biolink:NamedThing	systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease	Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).	DOVES_relaxed.owl
MONDO:0019084	biolink:NamedThing	radiation proctitis	Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.	DOVES_relaxed.owl
MONDO:0044791	biolink:NamedThing	combined hepatocellular carcinoma and cholangiocarcinoma	A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor.	DOVES_relaxed.owl
MONDO:0020084	biolink:NamedThing	lymphoproliferative disease associated with primary immune disease		DOVES_relaxed.owl
MONDO:0850069	biolink:NamedThing	familial hyperinflammatory lymphoproliferative immunodeficiency		DOVES_relaxed.owl
MONDO:0044687	biolink:NamedThing	chronic relapsing inflammatory optic neuropathy		DOVES_relaxed.owl
MONDO:0044688	biolink:NamedThing	isolated optic neuritis		DOVES_relaxed.owl
MONDO:0044690	biolink:NamedThing	optic perineuritis		DOVES_relaxed.owl
MONDO:0019123	biolink:NamedThing	continuous spikes and waves during sleep	Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.	DOVES_relaxed.owl
MONDO:0019149	biolink:NamedThing	cholesteryl ester storage disease	Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption.	DOVES_relaxed.owl
MONDO:0019643	biolink:NamedThing	transient pseudohypoaldosteronism	Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants.	DOVES_relaxed.owl
MONDO:0019168	biolink:NamedThing	pyomyositis	Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.	DOVES_relaxed.owl
MONDO:0019194	biolink:NamedThing	localized lipodystrophy	Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body.	DOVES_relaxed.owl
MONDO:0030087	biolink:NamedThing	diabetes mellitus, permanent neonatal 2		DOVES_relaxed.owl
MONDO:0030088	biolink:NamedThing	diabetes mellitus, permanent neonatal 3		DOVES_relaxed.owl
MONDO:0030089	biolink:NamedThing	diabetes mellitus, permanent neonatal 4		DOVES_relaxed.owl
MONDO:0019310	biolink:NamedThing	recessive dystrophic epidermolysis bullosa inversa	Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.	DOVES_relaxed.owl
MONDO:0019314	biolink:NamedThing	cutaneous mastocytoma	Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.	DOVES_relaxed.owl
MONDO:0019317	biolink:NamedThing	follicular atrophoderma-basal cell carcinoma		DOVES_relaxed.owl
MONDO:0019318	biolink:NamedThing	inflammatory linear verrucous epidermal nevus		DOVES_relaxed.owl
MONDO:0019319	biolink:NamedThing	verrucous nevus	A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings.	DOVES_relaxed.owl
MONDO:0019320	biolink:NamedThing	acanthokeratolytic verrucous nevus		DOVES_relaxed.owl
MONDO:0019322	biolink:NamedThing	pemphigus vegetans		DOVES_relaxed.owl
MONDO:0019325	biolink:NamedThing	phakomatosis cesioflammea		DOVES_relaxed.owl
MONDO:0019326	biolink:NamedThing	phakomatosis cesiomarmorata		DOVES_relaxed.owl
MONDO:0019327	biolink:NamedThing	phakomatosis spilorosea		DOVES_relaxed.owl
MONDO:0019411	biolink:NamedThing	genochondromatosis type 1	Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.	DOVES_relaxed.owl
MONDO:0019680	biolink:NamedThing	genochondromatosis type 2	Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.	DOVES_relaxed.owl
MONDO:0019435	biolink:NamedThing	rheumatoid factor-positive polyarticular juvenile idiopathic arthritis	A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor.	DOVES_relaxed.owl
MONDO:0019445	biolink:NamedThing	trichofolliculoma	Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.	DOVES_relaxed.owl
MONDO:0020979	biolink:NamedThing	pilosebaceous hamartoma	A hamartoma characterized by localized pilosebaceous apparatus malformation.	DOVES_relaxed.owl
MONDO:0021183	biolink:NamedThing	HTLV-2 infection		DOVES_relaxed.owl
MONDO:0019479	biolink:NamedThing	histiocytic sarcoma	An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.	DOVES_relaxed.owl
MONDO:0100023	biolink:NamedThing	self-limited familial and non-familial neonatal seizures	A neonatal/infantile epilepsy sndrome that is characterized by the onset of seizures that start in the in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress.	DOVES_relaxed.owl
MONDO:0100024	biolink:NamedThing	self-limited familial infantile epilepsy	This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life.	DOVES_relaxed.owl
MONDO:0100193	biolink:NamedThing	chronic liver failure	Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition.	DOVES_relaxed.owl
MONDO:0019543	biolink:NamedThing	acquired aneurysmal subarachnoid hemorrhage	Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.	DOVES_relaxed.owl
MONDO:0019552	biolink:NamedThing	centrifugal lipodystrophy	Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.	DOVES_relaxed.owl
MONDO:0019553	biolink:NamedThing	drug-induced localized lipodystrophy	Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present.	DOVES_relaxed.owl
MONDO:0019556	biolink:NamedThing	pressure-induced localized lipoatrophy	Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.	DOVES_relaxed.owl
MONDO:0019558	biolink:NamedThing	discoid lupus erythematosus	A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE).	DOVES_relaxed.owl
MONDO:0019559	biolink:NamedThing	hypertrophic or verrucous lupus erythematosus		DOVES_relaxed.owl
MONDO:0019560	biolink:NamedThing	lupus erythematosus tumidus	Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy.	DOVES_relaxed.owl
MONDO:0019567	biolink:NamedThing	Ehlers-Danlos syndrome, classic type, 1	Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene.	DOVES_relaxed.owl
MONDO:0019568	biolink:NamedThing	Ehlers-Danlos syndrome, classic type, 2	Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene.	DOVES_relaxed.owl
MONDO:0019578	biolink:NamedThing	nodular lichen myxedematosus	Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption.	DOVES_relaxed.owl
MONDO:0019579	biolink:NamedThing	discrete papular lichen myxedematosus	Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk.	DOVES_relaxed.owl
MONDO:0019580	biolink:NamedThing	papular mucinosis of infancy	Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.	DOVES_relaxed.owl
MONDO:0019581	biolink:NamedThing	acral persistent papular mucinosis	Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.	DOVES_relaxed.owl
MONDO:0019582	biolink:NamedThing	self-healing papular mucinosis	Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.	DOVES_relaxed.owl
MONDO:0019583	biolink:NamedThing	localized lichen myxedematosus with mixed features of different subtypes	Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM.	DOVES_relaxed.owl
MONDO:0019584	biolink:NamedThing	localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms	Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia.	DOVES_relaxed.owl
MONDO:0019585	biolink:NamedThing	scleromyxedema without monoclonal gammopathy	Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.	DOVES_relaxed.owl
MONDO:0100322	biolink:NamedThing	non-Zellweger spectrum disorder	A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.	DOVES_relaxed.owl
MONDO:0019644	biolink:NamedThing	renal dysplasia, unilateral	Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.	DOVES_relaxed.owl
MONDO:0019645	biolink:NamedThing	renal dysplasia, bilateral	Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.	DOVES_relaxed.owl
MONDO:0019646	biolink:NamedThing	unilateral congenital megacalycosis		DOVES_relaxed.owl
MONDO:0019647	biolink:NamedThing	congenital bilateral megacalycosis		DOVES_relaxed.owl
MONDO:0019649	biolink:NamedThing	idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis		DOVES_relaxed.owl
MONDO:0019650	biolink:NamedThing	idiopathic steroid-sensitive nephrotic syndrome with minimal change		DOVES_relaxed.owl
MONDO:0019651	biolink:NamedThing	idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation		DOVES_relaxed.owl
MONDO:0035764	biolink:NamedThing	idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance		DOVES_relaxed.owl
MONDO:0019655	biolink:NamedThing	sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis		DOVES_relaxed.owl
MONDO:0019656	biolink:NamedThing	sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis		DOVES_relaxed.owl
MONDO:0019986	biolink:NamedThing	sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy		DOVES_relaxed.owl
MONDO:0019659	biolink:NamedThing	Pfeiffer syndrome type 1	Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.	DOVES_relaxed.owl
MONDO:0019660	biolink:NamedThing	Pfeiffer syndrome type 2	Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.	DOVES_relaxed.owl
MONDO:0019661	biolink:NamedThing	Pfeiffer syndrome type 3	Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.	DOVES_relaxed.owl
MONDO:0032603	biolink:NamedThing	polydactyly, postaxial, type A9		DOVES_relaxed.owl
MONDO:0032785	biolink:NamedThing	polydactyly, postaxial, type a10		DOVES_relaxed.owl
MONDO:0019681	biolink:NamedThing	juvenile sialidosis type 2		DOVES_relaxed.owl
MONDO:0019682	biolink:NamedThing	congenital sialidosis type 2		DOVES_relaxed.owl
MONDO:0019726	biolink:NamedThing	type II mixed cryoglobulinemia	Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).	DOVES_relaxed.owl
MONDO:0019727	biolink:NamedThing	mixed cryoglobulinemia type III	Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.	DOVES_relaxed.owl
MONDO:0019728	biolink:NamedThing	heavy chain deposition disease		DOVES_relaxed.owl
MONDO:0019729	biolink:NamedThing	light and heavy chain deposition disease		DOVES_relaxed.owl
MONDO:0019730	biolink:NamedThing	light chain deposition disease	Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases.	DOVES_relaxed.owl
MONDO:0019745	biolink:NamedThing	cystinuria type A		DOVES_relaxed.owl
MONDO:0019746	biolink:NamedThing	cystinuria type B		DOVES_relaxed.owl
MONDO:0019753	biolink:NamedThing	localized Castleman disease	Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection.	DOVES_relaxed.owl
MONDO:0019754	biolink:NamedThing	multicentric Castleman disease	Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein.	DOVES_relaxed.owl
MONDO:0035838	biolink:NamedThing	idiopathic multicentric Castleman disease		DOVES_relaxed.owl
MONDO:0019760	biolink:NamedThing	terminal transverse defects of arm		DOVES_relaxed.owl
MONDO:0019766	biolink:NamedThing	X-linked intellectual disability, Porteous type		DOVES_relaxed.owl
MONDO:0019767	biolink:NamedThing	hamel cerebro-palato-cardiac syndrome	Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.	DOVES_relaxed.owl
MONDO:0019768	biolink:NamedThing	X-linked intellectual disability, Golabi-Ito-hall type	Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.	DOVES_relaxed.owl
MONDO:0019769	biolink:NamedThing	X-linked intellectual disability, Sutherland-Haan type		DOVES_relaxed.owl
MONDO:0019818	biolink:NamedThing	cleft mitral valve		DOVES_relaxed.owl
MONDO:0019819	biolink:NamedThing	double-orifice mitral valve		DOVES_relaxed.owl
MONDO:0020405	biolink:NamedThing	straddling and/or overriding mitral valve		DOVES_relaxed.owl
MONDO:0023282	biolink:NamedThing	granulomatous hypophysitis	Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma.	DOVES_relaxed.owl
MONDO:0019867	biolink:NamedThing	mosaic trisomy 8	Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.	DOVES_relaxed.owl
MONDO:0019869	biolink:NamedThing	mosaic trisomy 22	Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described.	DOVES_relaxed.owl
MONDO:0019870	biolink:NamedThing	distal trisomy 1p36	Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.	DOVES_relaxed.owl
MONDO:0019871	biolink:NamedThing	distal trisomy 2p	Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.	DOVES_relaxed.owl
MONDO:0019872	biolink:NamedThing	distal trisomy 3p	Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.	DOVES_relaxed.owl
MONDO:0019881	biolink:NamedThing	distal trisomy 6q	Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.	DOVES_relaxed.owl
MONDO:0019883	biolink:NamedThing	distal trisomy 9q	Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.	DOVES_relaxed.owl
MONDO:0019890	biolink:NamedThing	non-distal trisomy 9q	Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.	DOVES_relaxed.owl
MONDO:0019887	biolink:NamedThing	distal trisomy 16q	Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.	DOVES_relaxed.owl
MONDO:0019892	biolink:NamedThing	distal monosomy 7p		DOVES_relaxed.owl
MONDO:0019930	biolink:NamedThing	Leydig cell hypoplasia due to complete LH resistance		DOVES_relaxed.owl
MONDO:0019931	biolink:NamedThing	Leydig cell hypoplasia due to partial LH resistance		DOVES_relaxed.owl
MONDO:0019979	biolink:NamedThing	renal hypoplasia, unilateral	Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present.	DOVES_relaxed.owl
MONDO:0019980	biolink:NamedThing	renal hypoplasia, bilateral	Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present.	DOVES_relaxed.owl
MONDO:0019981	biolink:NamedThing	unilateral multicystic dysplastic kidney	Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.	DOVES_relaxed.owl
MONDO:0019982	biolink:NamedThing	bilateral multicystic dysplastic kidney	Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.	DOVES_relaxed.owl
MONDO:0019988	biolink:NamedThing	pauci-immune glomerulonephritis with ANCA	Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.	DOVES_relaxed.owl
MONDO:0019989	biolink:NamedThing	pauci-immune glomerulonephritis without ANCA	Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer.	DOVES_relaxed.owl
MONDO:0019990	biolink:NamedThing	non-amyloid fibrillary glomerulopathy	Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases.	DOVES_relaxed.owl
MONDO:0800046	biolink:NamedThing	thyroid hormone metabolism, abnormal 1	A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.	DOVES_relaxed.owl
MONDO:0600024	biolink:NamedThing	familial idiopathic inflammatory myopathy	An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause.	DOVES_relaxed.owl
MONDO:0020172	biolink:NamedThing	palpebral epidermal tumor	A neoplasm (disease) that involves the skin of eyelid.	DOVES_relaxed.owl
MONDO:0020177	biolink:NamedThing	pigmented palpebral tumor		DOVES_relaxed.owl
MONDO:0020181	biolink:NamedThing	mesenchymatous palpebral tumor		DOVES_relaxed.owl
MONDO:0020183	biolink:NamedThing	neurogenic palpebral tumor		DOVES_relaxed.owl
MONDO:0020304	biolink:NamedThing	isochromosomy Yp	Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.	DOVES_relaxed.owl
MONDO:0020305	biolink:NamedThing	isochromosomy Yq	Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.	DOVES_relaxed.owl
MONDO:0020307	biolink:NamedThing	benign childhood occipital epilepsy, Panayiotopoulos type	Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.	DOVES_relaxed.owl
MONDO:0020308	biolink:NamedThing	benign childhood occipital epilepsy, Gastaut type	Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.	DOVES_relaxed.owl
MONDO:0035639	biolink:NamedThing	mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)		DOVES_relaxed.owl
MONDO:0035642	biolink:NamedThing	mixed phenotype acute leukemia with t(v;11q23.3)		DOVES_relaxed.owl
MONDO:0020354	biolink:NamedThing	coloboma of choroid and retina	Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.	DOVES_relaxed.owl
MONDO:0020356	biolink:NamedThing	coloboma of iris	A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris.	DOVES_relaxed.owl
MONDO:0020359	biolink:NamedThing	congenital symblepharon		DOVES_relaxed.owl
MONDO:0020360	biolink:NamedThing	complete cryptophthalmia		DOVES_relaxed.owl
MONDO:0020361	biolink:NamedThing	partial cryptophthalmia		DOVES_relaxed.owl
MONDO:0020369	biolink:NamedThing	Chandler syndrome	Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy.	DOVES_relaxed.owl
MONDO:0020370	biolink:NamedThing	Cogan-Reese syndrome	Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease.	DOVES_relaxed.owl
MONDO:0020371	biolink:NamedThing	essential iris atrophy	Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.	DOVES_relaxed.owl
MONDO:0020390	biolink:NamedThing	pulmonary artery coming from patent ductus arteriosus		DOVES_relaxed.owl
MONDO:0020391	biolink:NamedThing	pulmonary artery coming from the aorta	Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.	DOVES_relaxed.owl
MONDO:0020393	biolink:NamedThing	discrete fibromuscular subaortic stenosis		DOVES_relaxed.owl
MONDO:0020394	biolink:NamedThing	tunnel subaortic stenosis		DOVES_relaxed.owl
MONDO:0020396	biolink:NamedThing	anomaly of the tricuspid valve chordae	Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.	DOVES_relaxed.owl
MONDO:0020397	biolink:NamedThing	parachute tricuspid valve	Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.	DOVES_relaxed.owl
MONDO:0020406	biolink:NamedThing	complete atrioventricular canal-left heart obstruction syndrome		DOVES_relaxed.owl
MONDO:0020407	biolink:NamedThing	complete atrioventricular canal-ventricle hypoplasia syndrome		DOVES_relaxed.owl
MONDO:0020408	biolink:NamedThing	complete atrioventricular canal-tetralogy of fallot syndrome		DOVES_relaxed.owl
MONDO:0020409	biolink:NamedThing	univentricular heart with single atrio-ventricular valve		DOVES_relaxed.owl
MONDO:0020410	biolink:NamedThing	aorto-right ventricular tunnel		DOVES_relaxed.owl
MONDO:0020411	biolink:NamedThing	aorto-left ventricular tunnel		DOVES_relaxed.owl
MONDO:0020421	biolink:NamedThing	coronary artery intramyocardial course		DOVES_relaxed.owl
MONDO:0020422	biolink:NamedThing	aortopulmonary coronary arterial course	Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise.	DOVES_relaxed.owl
MONDO:0020423	biolink:NamedThing	stenosis or atrophy of the coronary ostium		DOVES_relaxed.owl
MONDO:0020424	biolink:NamedThing	intramural coronary arterial course	Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death.	DOVES_relaxed.owl
MONDO:0020425	biolink:NamedThing	abnormal number of coronary ostia		DOVES_relaxed.owl
MONDO:0020426	biolink:NamedThing	malposition of the coronary ostium	Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.	DOVES_relaxed.owl
MONDO:0020429	biolink:NamedThing	cor triatriatum dexter		DOVES_relaxed.owl
MONDO:0020430	biolink:NamedThing	cor triatriatum sinister	Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy.	DOVES_relaxed.owl
MONDO:0020431	biolink:NamedThing	juxtaposition of the atrial appendages	Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.	DOVES_relaxed.owl
MONDO:0020432	biolink:NamedThing	ectasia of the right atrial appendage	Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.	DOVES_relaxed.owl
MONDO:0020433	biolink:NamedThing	ectasia of the left appendage	Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.	DOVES_relaxed.owl
MONDO:0020440	biolink:NamedThing	persistent left superior vena cava connecting to the left-sided atrium	Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.	DOVES_relaxed.owl
MONDO:0020441	biolink:NamedThing	right superior vena cava connecting to left-sided atrium	Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.	DOVES_relaxed.owl
MONDO:0020442	biolink:NamedThing	left superior vena cava persisting to left-sided atrium		DOVES_relaxed.owl
MONDO:0020443	biolink:NamedThing	absence of innominate vein	Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.	DOVES_relaxed.owl
MONDO:0020444	biolink:NamedThing	subaortic course of innominate vein	Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.	DOVES_relaxed.owl
MONDO:0020445	biolink:NamedThing	agenesis of the superior vena cava	Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.	DOVES_relaxed.owl
MONDO:0020446	biolink:NamedThing	coronary sinus stenosis		DOVES_relaxed.owl
MONDO:0020447	biolink:NamedThing	coronary sinus atresia		DOVES_relaxed.owl
MONDO:0020448	biolink:NamedThing	right inferior vena cava connecting to left-sided atrium		DOVES_relaxed.owl
MONDO:0020449	biolink:NamedThing	persistent eustachian valve		DOVES_relaxed.owl
MONDO:0020450	biolink:NamedThing	azygos continuation of the inferior vena cava		DOVES_relaxed.owl
MONDO:0020451	biolink:NamedThing	congenital stenosis of the inferior vena cava		DOVES_relaxed.owl
MONDO:0020452	biolink:NamedThing	inferior vena cava interruption		DOVES_relaxed.owl
MONDO:0020454	biolink:NamedThing	congenital complete agenesis of pericardium	Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.	DOVES_relaxed.owl
MONDO:0020455	biolink:NamedThing	congenital partial agenesis of pericardium	Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.	DOVES_relaxed.owl
MONDO:0020456	biolink:NamedThing	pleuro-pericardial cyst	Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.	DOVES_relaxed.owl
MONDO:0020467	biolink:NamedThing	mosaic monosomy X		DOVES_relaxed.owl
MONDO:0020481	biolink:NamedThing	myotonia fluctuans	Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.	DOVES_relaxed.owl
MONDO:0020482	biolink:NamedThing	myotonia permanens	Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).	DOVES_relaxed.owl
MONDO:0020483	biolink:NamedThing	acetazolamide-responsive myotonia	Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).	DOVES_relaxed.owl
MONDO:0020517	biolink:NamedThing	eosinophilic granuloma	A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes.	DOVES_relaxed.owl
MONDO:0020519	biolink:NamedThing	hand-Schuller-Christian disease	A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions.	DOVES_relaxed.owl
MONDO:0020520	biolink:NamedThing	adult pulmonary Langerhans cell histiocytosis	Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions.	DOVES_relaxed.owl
MONDO:0020521	biolink:NamedThing	Ehlers-Danlos syndrome type 7A		DOVES_relaxed.owl
MONDO:0020522	biolink:NamedThing	Ehlers-Danlos syndrome type 7B		DOVES_relaxed.owl
MONDO:0036595	biolink:NamedThing	ovarian Sertoli-Leydig cell tumor	A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8.	DOVES_relaxed.owl
MONDO:0020547	biolink:NamedThing	chronic graft versus host disease	Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications.	DOVES_relaxed.owl
MONDO:0020554	biolink:NamedThing	Heiner syndrome	Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet.	DOVES_relaxed.owl
MONDO:0020559	biolink:NamedThing	O'Sullivan-McLeod syndrome	O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.	DOVES_relaxed.owl
MONDO:0020567	biolink:NamedThing	apnea of prematurity	Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases.	DOVES_relaxed.owl
MONDO:0020569	biolink:NamedThing	intermediate DEND syndrome	Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy.	DOVES_relaxed.owl
MONDO:0800375	biolink:NamedThing	developmental delay, epilepsy, and neonatal diabetes 1		DOVES_relaxed.owl
MONDO:0800376	biolink:NamedThing	developmental delay, epilepsy, and neonatal diabetes 2		DOVES_relaxed.owl
MONDO:0020607	biolink:NamedThing	Liddle syndrome 1	Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene.	DOVES_relaxed.owl
MONDO:0020854	biolink:NamedThing	Liddle syndrome 2	Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene.	DOVES_relaxed.owl
MONDO:0029132	biolink:NamedThing	Liddle syndrome 3		DOVES_relaxed.owl
MONDO:0020630	biolink:NamedThing	epileptic encephalopathy, infantile or early childhood, 1		DOVES_relaxed.owl
MONDO:0020631	biolink:NamedThing	epileptic encephalopathy, infantile or early childhood, 2		DOVES_relaxed.owl
MONDO:0020632	biolink:NamedThing	epileptic encephalopathy, infantile or early childhood, 3		DOVES_relaxed.owl
MONDO:0020655	biolink:NamedThing	juvenile ankylosing spondylitis		DOVES_relaxed.owl
MONDO:0043377	biolink:NamedThing	juvenile spondyloarthropathy	A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood.	DOVES_relaxed.owl
MONDO:0020662	biolink:NamedThing	borderline ovarian serous tumor	A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion.	DOVES_relaxed.owl
MONDO:0020730	biolink:NamedThing	carpal tunnel syndrome 1		DOVES_relaxed.owl
MONDO:0030883	biolink:NamedThing	carpal tunnel syndrome 2		DOVES_relaxed.owl
MONDO:0020747	biolink:NamedThing	sitosterolemia 1		DOVES_relaxed.owl
MONDO:0020748	biolink:NamedThing	sitosterolemia 2		DOVES_relaxed.owl
MONDO:0020750	biolink:NamedThing	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2		DOVES_relaxed.owl
MONDO:0020761	biolink:NamedThing	Bowen disease of the skin	A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative.	DOVES_relaxed.owl
MONDO:0020763	biolink:NamedThing	Menke-Hennekam syndrome 1		DOVES_relaxed.owl
MONDO:0020769	biolink:NamedThing	Menke-Hennekam syndrome 2		DOVES_relaxed.owl
MONDO:0020767	biolink:NamedThing	cauda equina syndrome with neurogenic bladder	A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted.	DOVES_relaxed.owl
MONDO:0020773	biolink:NamedThing	cerebrospinal fluid rhinorrhea	Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)	DOVES_relaxed.owl
MONDO:0020775	biolink:NamedThing	congenital disorder of glycosylation with defective fucosylation 1		DOVES_relaxed.owl
MONDO:0020777	biolink:NamedThing	congenital disorder of glycosylation with defective fucosylation 2		DOVES_relaxed.owl
MONDO:0020778	biolink:NamedThing	cone-rod dystrophy and hearing loss 1		DOVES_relaxed.owl
MONDO:0020780	biolink:NamedThing	cone-rod dystrophy and hearing loss 2		DOVES_relaxed.owl
MONDO:0020783	biolink:NamedThing	capillary malformation-arteriovenous malformation 1		DOVES_relaxed.owl
MONDO:0020787	biolink:NamedThing	hypomagnesemia, seizures, and intellectual disability 1		DOVES_relaxed.owl
MONDO:0020788	biolink:NamedThing	hypomagnesemia, seizures, and intellectual disability 2		DOVES_relaxed.owl
MONDO:0020790	biolink:NamedThing	gaze palsy, familial horizontal, with progressive scoliosis 1		DOVES_relaxed.owl
MONDO:0054602	biolink:NamedThing	gaze palsy, familial horizontal, with progressive scoliosis, 2		DOVES_relaxed.owl
MONDO:0020791	biolink:NamedThing	corneal dystrophy, Meesmann, 1		DOVES_relaxed.owl
MONDO:0032904	biolink:NamedThing	corneal dystrophy, Meesmann, 2		DOVES_relaxed.owl
MONDO:0020793	biolink:NamedThing	oculopharyngodistal myopathy 1		DOVES_relaxed.owl
MONDO:0023671	biolink:NamedThing	oculopharyngodistal myopathy 3		DOVES_relaxed.owl
MONDO:0030134	biolink:NamedThing	oculopharyngodistal myopathy 2		DOVES_relaxed.owl
MONDO:0030712	biolink:NamedThing	oculopharyngodistal myopathy 4		DOVES_relaxed.owl
MONDO:0020797	biolink:NamedThing	decompression sickness	A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death.	DOVES_relaxed.owl
MONDO:0020813	biolink:NamedThing	benign testicular sertoli cell tumor	A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent.	DOVES_relaxed.owl
MONDO:0020815	biolink:NamedThing	dentigerous cyst	Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation.	DOVES_relaxed.owl
MONDO:0020838	biolink:NamedThing	anterior nasal diphtheria	Infection of the anterior nasal structures by Corynebacterium diphtheriae.	DOVES_relaxed.owl
MONDO:0020843	biolink:NamedThing	pseudomembranous diphtheritic conjunctivitis	Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae.	DOVES_relaxed.owl
MONDO:0020860	biolink:NamedThing	faucial diphtheria	Infection of the fauces by Corynebacterium diphtheriae.	DOVES_relaxed.owl
MONDO:0041259	biolink:NamedThing	diphtheritic myocarditis	An myocarditis caused by infection with Corynebacterium diphtheriae.	DOVES_relaxed.owl
MONDO:0020980	biolink:NamedThing	hair nevus	A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion.	DOVES_relaxed.owl
MONDO:0044768	biolink:NamedThing	vagus nerve paraganglioma	A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.	DOVES_relaxed.owl
MONDO:0021081	biolink:NamedThing	anti-NMDA receptor encephalitis	An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor.	DOVES_relaxed.owl
MONDO:0021115	biolink:NamedThing	luminal B breast carcinoma	A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype.	DOVES_relaxed.owl
MONDO:0021116	biolink:NamedThing	luminal A breast carcinoma	A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis.	DOVES_relaxed.owl
MONDO:0021126	biolink:NamedThing	syndromic or isolated	An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features.	DOVES_relaxed.owl
MONDO:0021135	biolink:NamedThing	rare or common		DOVES_relaxed.owl
MONDO:0021139	biolink:NamedThing	congenital or acquired		DOVES_relaxed.owl
MONDO:0021149	biolink:NamedThing	genetic vs non-genetic etiology		DOVES_relaxed.owl
MONDO:0024488	biolink:NamedThing	tumor grading characteristic	A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread	DOVES_relaxed.owl
MONDO:0045034	biolink:NamedThing	infectious disease characteristic		DOVES_relaxed.owl
MONDO:0045040	biolink:NamedThing	locational disease characteristic		DOVES_relaxed.owl
MONDO:0100355	biolink:NamedThing	classic or non-classic genetic disease presentation	A classic (severe) or non-classic (mild or intermediate) form of a genetic disease.	DOVES_relaxed.owl
MONDO:0100369	biolink:NamedThing	iatrogenic or non-iatrogenic	A iatrogenic or non-iatrogenic form of a disease.	DOVES_relaxed.owl
MONDO:0700004	biolink:NamedThing	idiopathic vs non-idiopathic	A disease characteristic in which the cause of the disease is known or unknown.	DOVES_relaxed.owl
MONDO:0700061	biolink:NamedThing	mosaic vs complete	A disease characteristic in which the cause of the disease is present in some of the cells of the organism, or in all the cells of the organism.	DOVES_relaxed.owl
MONDO:0021151	biolink:NamedThing	non-genetic		DOVES_relaxed.owl
MONDO:0021171	biolink:NamedThing	Timothy syndrome, classic type	Classic form of Timothy syndrome, includes all features of generic.	DOVES_relaxed.owl
MONDO:0021172	biolink:NamedThing	Timothy syndrome, atypical type	Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death.	DOVES_relaxed.owl
MONDO:0021287	biolink:NamedThing	carcinoma in situ of epiglottis	A in situ carcinoma that involves the epiglottis.	DOVES_relaxed.owl
MONDO:0021297	biolink:NamedThing	carcinoma in situ of nasopharynx	A in situ carcinoma that involves the nasopharynx.	DOVES_relaxed.owl
MONDO:0021298	biolink:NamedThing	carcinoma in situ of oropharynx	A in situ carcinoma that involves the oropharynx.	DOVES_relaxed.owl
MONDO:0021291	biolink:NamedThing	carcinoma in situ of fundus of stomach	A in situ carcinoma that involves the fundus of stomach.	DOVES_relaxed.owl
MONDO:0021292	biolink:NamedThing	carcinoma in situ of gastric body	A in situ carcinoma that involves the body of stomach.	DOVES_relaxed.owl
MONDO:0021588	biolink:NamedThing	eyelid sebaceous gland carcinoma	A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases.	DOVES_relaxed.owl
MONDO:0021644	biolink:NamedThing	esophageal varices without bleeding		DOVES_relaxed.owl
MONDO:0021645	biolink:NamedThing	esophageal varices with bleeding		DOVES_relaxed.owl
MONDO:0021726	biolink:NamedThing	abdominal cystic lymphangioma	Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence..	DOVES_relaxed.owl
MONDO:0021736	biolink:NamedThing	proctosigmoiditis	Inflammation of the sigmoid colon and rectum.	DOVES_relaxed.owl
MONDO:0100002	biolink:NamedThing	food protein-induced allergic proctocolitis	A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins.	DOVES_relaxed.owl
MONDO:0043283	biolink:NamedThing	silicosiderosis		DOVES_relaxed.owl
MONDO:0021809	biolink:NamedThing	primary dysautonomia	Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate.	DOVES_relaxed.owl
MONDO:0100434	biolink:NamedThing	chronic mountain sickness	A pathological condition resulting from chronic exposure to hypoxia at high altitude. The syndrome is characterized by an excessive number of red blood cells associated with a high blood hemoglobin concentration ([Hb]), hypoxemia, and, in some cases, pulmonary hypertension. Clinical signs include headache, fatigue, sleep disturbances, dyspnea, digestive complaints, and high risk of thrombotic events.	DOVES_relaxed.owl
MONDO:0021824	biolink:NamedThing	adult progressive spinal muscular atrophy, Aran Duchenne type	A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others.	DOVES_relaxed.owl
MONDO:0021923	biolink:NamedThing	Arroyo Garcia Cimadevilla syndrome	A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder.	DOVES_relaxed.owl
MONDO:0021929	biolink:NamedThing	traumatic myositis ossificans	Myositis Ossificans resulting from trauma.	DOVES_relaxed.owl
MONDO:0021941	biolink:NamedThing	infection by Trypanosoma rhodesiense	An infection with Trypanosoma brucei rhodesiense.	DOVES_relaxed.owl
MONDO:0022746	biolink:NamedThing	chromosome 13p duplication		DOVES_relaxed.owl
MONDO:0022311	biolink:NamedThing	cote katsantoni syndrome		DOVES_relaxed.owl
MONDO:0022552	biolink:NamedThing	Bazopoulou Kyrkanidou syndrome		DOVES_relaxed.owl
MONDO:0043162	biolink:NamedThing	pagon stephan syndrome		DOVES_relaxed.owl
MONDO:0022572	biolink:NamedThing	bilateral renal agenesis dominant type		DOVES_relaxed.owl
MONDO:0022573	biolink:NamedThing	biliary atresia intrahepatic non syndromic form		DOVES_relaxed.owl
MONDO:0022574	biolink:NamedThing	biliary atresia intrahepatic syndromic form		DOVES_relaxed.owl
MONDO:0100285	biolink:NamedThing	extrahepatic biliary atresia	A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow.	DOVES_relaxed.owl
MONDO:0022618	biolink:NamedThing	burning mouth syndrome type 3		DOVES_relaxed.owl
MONDO:0022673	biolink:NamedThing	autosomal dominant non-nuclear cataract		DOVES_relaxed.owl
MONDO:0022699	biolink:NamedThing	cerebral palsy spastic hemiplegic		DOVES_relaxed.owl
MONDO:0022700	biolink:NamedThing	cerebral palsy spastic monoplegic		DOVES_relaxed.owl
MONDO:0022735	biolink:NamedThing	choroid plexus cyst		DOVES_relaxed.owl
MONDO:0022758	biolink:NamedThing	chromosome 22, monosome mosaic		DOVES_relaxed.owl
MONDO:0022826	biolink:NamedThing	congenital cystic eye multiple ocular and intracranial anomalies		DOVES_relaxed.owl
MONDO:0022846	biolink:NamedThing	congenital nonhemolytic jaundice		DOVES_relaxed.owl
MONDO:0022948	biolink:NamedThing	Deal Barratt Dillon syndrome		DOVES_relaxed.owl
MONDO:0060778	biolink:NamedThing	adult Fanconi syndrome	Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset.	DOVES_relaxed.owl
MONDO:0060779	biolink:NamedThing	acquired Fanconi syndrome	Fanconi Syndrome caused by exposure to noxious agents.	DOVES_relaxed.owl
MONDO:0040871	biolink:NamedThing	psychogenic polydipsia	A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders.	DOVES_relaxed.owl
MONDO:0040872	biolink:NamedThing	non-psychogenic polydipsia	A form of primary polydipsia not caused by underlying psychiatric symptoms.	DOVES_relaxed.owl
MONDO:0023094	biolink:NamedThing	exogenous ochronosis	Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria.	DOVES_relaxed.owl
MONDO:0023134	biolink:NamedThing	febrile ulceronecrotic Mucha-Habermann disease	Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death.	DOVES_relaxed.owl
MONDO:0042974	biolink:NamedThing	parainfluenza virus type 3 infectious disease	Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections.	DOVES_relaxed.owl
MONDO:0023209	biolink:NamedThing	galactorrhoea-hyperprolactinaemia		DOVES_relaxed.owl
MONDO:0023273	biolink:NamedThing	pigmented dermatofibrosarcoma protuberans	A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells.	DOVES_relaxed.owl
MONDO:0023513	biolink:NamedThing	Jeune syndrome situs inversus		DOVES_relaxed.owl
MONDO:0043294	biolink:NamedThing	linear scleroderma	A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area.	DOVES_relaxed.owl
MONDO:0023650	biolink:NamedThing	littoral cell angioma of the spleen	Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies.	DOVES_relaxed.owl
MONDO:0023699	biolink:NamedThing	Maroteaux Fonfria syndrome		DOVES_relaxed.owl
MONDO:0023704	biolink:NamedThing	Martinez Monasterio Pinheiro syndrome	A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder.	DOVES_relaxed.owl
MONDO:0040503	biolink:NamedThing	blepharocheilodontic syndrome 2	Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.	DOVES_relaxed.owl
MONDO:0054740	biolink:NamedThing	blepharocheilodontic syndrome 1	Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene.	DOVES_relaxed.owl
MONDO:0024182	biolink:NamedThing	dry beriberi		DOVES_relaxed.owl
MONDO:0024287	biolink:NamedThing	congenital vascular malformation	A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels.	DOVES_relaxed.owl
MONDO:0024466	biolink:NamedThing	facial paresis, hereditary congenital, 1		DOVES_relaxed.owl
MONDO:0024489	biolink:NamedThing	general tumor grading characteristic	A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated.	DOVES_relaxed.owl
MONDO:0024490	biolink:NamedThing	tumor grade X, general grading system		DOVES_relaxed.owl
MONDO:0024496	biolink:NamedThing	tumor grade 2 or 3, general grading system	A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated.	DOVES_relaxed.owl
MONDO:0024497	biolink:NamedThing	tumor grade 3 or 4, general grading system	Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive.	DOVES_relaxed.owl
MONDO:0024492	biolink:NamedThing	tumor grade 2, general grading system	A morphologic qualifier indicating that a cancerous lesion is moderately differentiated.	DOVES_relaxed.owl
MONDO:0024494	biolink:NamedThing	tumor grade 4, general grading system	A morphologic qualifier indicating that a cancerous lesion is undifferentiated.	DOVES_relaxed.owl
MONDO:0024504	biolink:NamedThing	enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor	A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome.	DOVES_relaxed.owl
MONDO:0024770	biolink:NamedThing	autoinflammatory syndrome, familial, X-linked, Behcet-like 2		DOVES_relaxed.owl
MONDO:0800045	biolink:NamedThing	autoinflammatory syndrome, familial, Behcet-like 1		DOVES_relaxed.owl
MONDO:0024863	biolink:NamedThing	small size posterior uveal melanoma		DOVES_relaxed.owl
MONDO:0024864	biolink:NamedThing	medium/large size posterior uveal melanoma		DOVES_relaxed.owl
MONDO:0024880	biolink:NamedThing	metastatic malignant neoplasm	A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site.	DOVES_relaxed.owl
MONDO:0041447	biolink:NamedThing	metastatic malignant neoplasm in the colon	The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site.	DOVES_relaxed.owl
MONDO:0700219	biolink:NamedThing	neoplastic meningitis	Metastatic neoplasm in which the tumor cells spread to leptomeninges (pia and arachnoid) and subarachnoid space. The most common primary tumors metastasizing to the leptomeninges are breast and lung carcinomas, melanoma, aggressive non-Hodgkin lymphoma, and acute lymphocytic leukemia.	DOVES_relaxed.owl
MONDO:0024893	biolink:NamedThing	toxocara canis infection (canine roundworms)		DOVES_relaxed.owl
MONDO:0024954	biolink:NamedThing	larva migrans, visceral	A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati.	DOVES_relaxed.owl
MONDO:0025556	biolink:NamedThing	isocyanate induced asthma		DOVES_relaxed.owl
MONDO:0025690	biolink:NamedThing	microcephaly, epilepsy, and diabetes syndrome 2		DOVES_relaxed.owl
MONDO:0031481	biolink:NamedThing	microcephaly, epilepsy, and diabetes syndrome 1		DOVES_relaxed.owl
MONDO:0025708	biolink:NamedThing	megacystis-microcolon-intestinal hypoperistalsis syndrome 2		DOVES_relaxed.owl
MONDO:0030294	biolink:NamedThing	megacystis-microcolon-intestinal hypoperistalsis syndrome 3		DOVES_relaxed.owl
MONDO:0030296	biolink:NamedThing	megacystis-microcolon-intestinal hypoperistalsis syndrome 4		DOVES_relaxed.owl
MONDO:0030329	biolink:NamedThing	megacystis-microcolon-intestinal hypoperistalsis syndrome 5		DOVES_relaxed.owl
MONDO:0100354	biolink:NamedThing	megacystis-microcolon-intestinal hypoperistalsis syndrome 1		DOVES_relaxed.owl
MONDO:0026404	biolink:NamedThing	X inactivation, familial skewed, 1		DOVES_relaxed.owl
MONDO:0026426	biolink:NamedThing	X inactivation, familial skewed, 2		DOVES_relaxed.owl
MONDO:0026720	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 12		DOVES_relaxed.owl
MONDO:0100223	biolink:NamedThing	mitochondrial complex I deficiency, nuclear type		DOVES_relaxed.owl
MONDO:0026721	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 30		DOVES_relaxed.owl
MONDO:0030309	biolink:NamedThing	Leber hereditary optic neuropathy, autosomal recessive		DOVES_relaxed.owl
MONDO:0030902	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 36		DOVES_relaxed.owl
MONDO:0030997	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 37		DOVES_relaxed.owl
MONDO:0032606	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 2		DOVES_relaxed.owl
MONDO:0032608	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 3		DOVES_relaxed.owl
MONDO:0032609	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 4		DOVES_relaxed.owl
MONDO:0032610	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 5		DOVES_relaxed.owl
MONDO:0032611	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 6		DOVES_relaxed.owl
MONDO:0032612	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 7		DOVES_relaxed.owl
MONDO:0032613	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 8		DOVES_relaxed.owl
MONDO:0032615	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 9		DOVES_relaxed.owl
MONDO:0032616	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 10		DOVES_relaxed.owl
MONDO:0032617	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 11		DOVES_relaxed.owl
MONDO:0032618	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 13		DOVES_relaxed.owl
MONDO:0032619	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 14		DOVES_relaxed.owl
MONDO:0032620	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 15		DOVES_relaxed.owl
MONDO:0032621	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 16		DOVES_relaxed.owl
MONDO:0032622	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 17		DOVES_relaxed.owl
MONDO:0032623	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 18		DOVES_relaxed.owl
MONDO:0032624	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 19		DOVES_relaxed.owl
MONDO:0032625	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 21		DOVES_relaxed.owl
MONDO:0032626	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 22		DOVES_relaxed.owl
MONDO:0032627	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 23		DOVES_relaxed.owl
MONDO:0032628	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 24		DOVES_relaxed.owl
MONDO:0032629	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 25		DOVES_relaxed.owl
MONDO:0032630	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 26		DOVES_relaxed.owl
MONDO:0032631	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 27		DOVES_relaxed.owl
MONDO:0032632	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 28		DOVES_relaxed.owl
MONDO:0032633	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 29		DOVES_relaxed.owl
MONDO:0032634	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 31		DOVES_relaxed.owl
MONDO:0032635	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 32		DOVES_relaxed.owl
MONDO:0032636	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 33		DOVES_relaxed.owl
MONDO:0032910	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 34		DOVES_relaxed.owl
MONDO:0100353	biolink:NamedThing	HHV-7 infectious disease	A disease caused by infection with herpesvirus-7.	DOVES_relaxed.owl
MONDO:0027068	biolink:NamedThing	mitochondrial complex 1 deficiency, mitochondrial type 1	Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene.	DOVES_relaxed.owl
MONDO:0100134	biolink:NamedThing	mitochondrial complex I deficiency, mitochondrial type		DOVES_relaxed.owl
MONDO:0030019	biolink:NamedThing	anauxetic dysplasia 3		DOVES_relaxed.owl
MONDO:0054560	biolink:NamedThing	anauxetic dysplasia 1		DOVES_relaxed.owl
MONDO:0030077	biolink:NamedThing	vertebral, cardiac, renal, and limb defects syndrome 3		DOVES_relaxed.owl
MONDO:0030374	biolink:NamedThing	WHIM syndrome 2		DOVES_relaxed.owl
MONDO:0030375	biolink:NamedThing	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2		DOVES_relaxed.owl
MONDO:8000012	biolink:NamedThing	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1		DOVES_relaxed.owl
MONDO:0030376	biolink:NamedThing	Martsolf syndrome 2		DOVES_relaxed.owl
MONDO:0030397	biolink:NamedThing	portal hypertension, noncirrhotic, 2		DOVES_relaxed.owl
MONDO:8000013	biolink:NamedThing	portal hypertension, noncirrhotic, 1		DOVES_relaxed.owl
MONDO:0030399	biolink:NamedThing	visceral neuropathy, familial, 2, autosomal recessive		DOVES_relaxed.owl
MONDO:0030471	biolink:NamedThing	Galloway-Mowat syndrome 9		DOVES_relaxed.owl
MONDO:0030476	biolink:NamedThing	Galloway-Mowat syndrome 10		DOVES_relaxed.owl
MONDO:0032691	biolink:NamedThing	Galloway-Mowat syndrome 6		DOVES_relaxed.owl
MONDO:0032692	biolink:NamedThing	Galloway-Mowat syndrome 7		DOVES_relaxed.owl
MONDO:0032693	biolink:NamedThing	Galloway-Mowat syndrome 8		DOVES_relaxed.owl
MONDO:0033005	biolink:NamedThing	Galloway-Mowat syndrome 1		DOVES_relaxed.owl
MONDO:0033006	biolink:NamedThing	Galloway-Mowat syndrome 2, X-linked		DOVES_relaxed.owl
MONDO:0033007	biolink:NamedThing	Galloway-Mowat syndrome 3		DOVES_relaxed.owl
MONDO:0033008	biolink:NamedThing	Galloway-Mowat syndrome 4		DOVES_relaxed.owl
MONDO:0033009	biolink:NamedThing	Galloway-Mowat syndrome 5		DOVES_relaxed.owl
MONDO:0030537	biolink:NamedThing	central hypoventilation syndrome, congenital, 2, and autonomic dysfunction		DOVES_relaxed.owl
MONDO:0030539	biolink:NamedThing	central hypoventilation syndrome, congenital, 3		DOVES_relaxed.owl
MONDO:0030604	biolink:NamedThing	cystic partially differentiated nephroblastoma	A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative.	DOVES_relaxed.owl
MONDO:0030606	biolink:NamedThing	Bryant-Li-Bhoj neurodevelopmental syndrome 1		DOVES_relaxed.owl
MONDO:0030607	biolink:NamedThing	Bryant-Li-Bhoj neurodevelopmental syndrome 2		DOVES_relaxed.owl
MONDO:0030608	biolink:NamedThing	interstitial lung disease 1		DOVES_relaxed.owl
MONDO:0030625	biolink:NamedThing	dyskinesia with orofacial involvement, autosomal recessive		DOVES_relaxed.owl
MONDO:0030634	biolink:NamedThing	leukoencephalopathy, hereditary diffuse, with spheroids 2		DOVES_relaxed.owl
MONDO:0030669	biolink:NamedThing	gastrointestinal defects and immunodeficiency syndrome 2	A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency.	DOVES_relaxed.owl
MONDO:0030674	biolink:NamedThing	Teebi hypertelorism syndrome 2		DOVES_relaxed.owl
MONDO:0800025	biolink:NamedThing	Teebi hypertelorism syndrome 1	A rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes.	DOVES_relaxed.owl
MONDO:0030676	biolink:NamedThing	parkinsonism-dystonia 3, childhood-onset		DOVES_relaxed.owl
MONDO:0054835	biolink:NamedThing	classic dopamine transporter deficiency syndrome	Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay.	DOVES_relaxed.owl
MONDO:0054836	biolink:NamedThing	parkinsonism-dystonia, infantile, 2		DOVES_relaxed.owl
MONDO:0030729	biolink:NamedThing	Tessadori-van Haaften neurodevelopmental syndrome 1		DOVES_relaxed.owl
MONDO:0030730	biolink:NamedThing	Tessadori-van Haaften neurodevelopmental syndrome 2		DOVES_relaxed.owl
MONDO:0030993	biolink:NamedThing	Tessadori-Van Haaften neurodevelopmental syndrome 3		DOVES_relaxed.owl
MONDO:0031000	biolink:NamedThing	Tessadori-Van Haaften neurodevelopmental syndrome 4		DOVES_relaxed.owl
MONDO:0030756	biolink:NamedThing	Stuve-Wiedemann syndrome 2		DOVES_relaxed.owl
MONDO:0030770	biolink:NamedThing	congenital disorder of deglycosylation 2		DOVES_relaxed.owl
MONDO:0030781	biolink:NamedThing	restrictive dermopathy 2		DOVES_relaxed.owl
MONDO:0030839	biolink:NamedThing	thyroid hormone metabolism, abnormal, 2		DOVES_relaxed.owl
MONDO:0030854	biolink:NamedThing	combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1		DOVES_relaxed.owl
MONDO:0030855	biolink:NamedThing	combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2		DOVES_relaxed.owl
MONDO:0030859	biolink:NamedThing	COACH syndrome 2		DOVES_relaxed.owl
MONDO:0030862	biolink:NamedThing	COACH syndrome 3		DOVES_relaxed.owl
MONDO:0800103	biolink:NamedThing	COACH syndrome 1	Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.	DOVES_relaxed.owl
MONDO:0030876	biolink:NamedThing	cardioacrofacial dysplasia 1		DOVES_relaxed.owl
MONDO:0030877	biolink:NamedThing	cardioacrofacial dysplasia 2		DOVES_relaxed.owl
MONDO:0030924	biolink:NamedThing	proteasome-associated autoinflammatory syndrome 5		DOVES_relaxed.owl
MONDO:0030931	biolink:NamedThing	proteasome-associated autoinflammatory syndrome 4		DOVES_relaxed.owl
MONDO:0054698	biolink:NamedThing	proteasome-associated autoinflammatory syndrome 1		DOVES_relaxed.owl
MONDO:0054699	biolink:NamedThing	proteasome-associated autoinflammatory syndrome 3		DOVES_relaxed.owl
MONDO:0054700	biolink:NamedThing	proteasome-associated autoinflammatory syndrome 2		DOVES_relaxed.owl
MONDO:0030928	biolink:NamedThing	microcephaly 26, primary, autosomal dominant		DOVES_relaxed.owl
MONDO:0030929	biolink:NamedThing	microcephaly 27, primary, autosomal dominant		DOVES_relaxed.owl
MONDO:0054593	biolink:NamedThing	microcephaly 18, primary, autosomal dominant		DOVES_relaxed.owl
MONDO:0030935	biolink:NamedThing	mitochondrial complex 2 deficiency, nuclear type 2		DOVES_relaxed.owl
MONDO:0030937	biolink:NamedThing	mitochondrial complex 2 deficiency, nuclear type 3		DOVES_relaxed.owl
MONDO:0030974	biolink:NamedThing	mitochondrial complex 2 deficiency, nuclear type 4		DOVES_relaxed.owl
MONDO:0030953	biolink:NamedThing	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2		DOVES_relaxed.owl
MONDO:0100297	biolink:NamedThing	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1		DOVES_relaxed.owl
MONDO:0030978	biolink:NamedThing	endove syndrome, limb-only type		DOVES_relaxed.owl
MONDO:0030979	biolink:NamedThing	endove syndrome, limb-brain type		DOVES_relaxed.owl
MONDO:0031003	biolink:NamedThing	hypercholanemia, familial, 2		DOVES_relaxed.owl
MONDO:0031446	biolink:NamedThing	hypercholanemia, familial 1	A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.	DOVES_relaxed.owl
MONDO:0031009	biolink:NamedThing	Glanzmann thrombasthenia 2		DOVES_relaxed.owl
MONDO:0031332	biolink:NamedThing	Glanzmann thrombasthenia 1	A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia	DOVES_relaxed.owl
MONDO:0031010	biolink:NamedThing	odontochondrodysplasia 2 with hearing loss and diabetes		DOVES_relaxed.owl
MONDO:0100325	biolink:NamedThing	odontochondrodysplasia 1	A very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.	DOVES_relaxed.owl
MONDO:0044141	biolink:NamedThing	panic disorder without agoraphobia	A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder.	DOVES_relaxed.owl
MONDO:0044144	biolink:NamedThing	panic disorder with agoraphobia	A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder.	DOVES_relaxed.owl
MONDO:0034147	biolink:NamedThing	neonatal epileptic encephalopathy due to glutaminase deficiency		DOVES_relaxed.owl
MONDO:0033004	biolink:NamedThing	polycystic kidney disease 4	A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene.	DOVES_relaxed.owl
MONDO:0033281	biolink:NamedThing	polycystic kidney disease 5	Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene.	DOVES_relaxed.owl
MONDO:0033635	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 3		DOVES_relaxed.owl
MONDO:0033636	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 4		DOVES_relaxed.owl
MONDO:0033637	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 7		DOVES_relaxed.owl
MONDO:0033638	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 8		DOVES_relaxed.owl
MONDO:0033639	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 10		DOVES_relaxed.owl
MONDO:0033645	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 11		DOVES_relaxed.owl
MONDO:0033646	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 12		DOVES_relaxed.owl
MONDO:0033649	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 14		DOVES_relaxed.owl
MONDO:0033650	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 15		DOVES_relaxed.owl
MONDO:0033651	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 16		DOVES_relaxed.owl
MONDO:0033652	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 17		DOVES_relaxed.owl
MONDO:0033653	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 18		DOVES_relaxed.owl
MONDO:0033654	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 19		DOVES_relaxed.owl
MONDO:0033655	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 20		DOVES_relaxed.owl
MONDO:0033656	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 21		DOVES_relaxed.owl
MONDO:0035235	biolink:NamedThing	classic pyoderma gangrenosum	A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.	DOVES_relaxed.owl
MONDO:0035236	biolink:NamedThing	pustular pyoderma gangrenosum	A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease.	DOVES_relaxed.owl
MONDO:0035237	biolink:NamedThing	bullous pyoderma gangrenosum	A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.	DOVES_relaxed.owl
MONDO:0035238	biolink:NamedThing	vegetative pyoderma gangrenosum	A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflamation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.	DOVES_relaxed.owl
MONDO:0035293	biolink:NamedThing	streptococcus pneumoniae-associated hemolytic uremic syndrome		DOVES_relaxed.owl
MONDO:0035375	biolink:NamedThing	multisystem inflammatory syndrome in children and adults		DOVES_relaxed.owl
MONDO:0100233	biolink:NamedThing	long COVID-19	A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction.	DOVES_relaxed.owl
MONDO:0035403	biolink:NamedThing	serous cystadenoma of childhood		DOVES_relaxed.owl
MONDO:0035404	biolink:NamedThing	mucinous cystadenoma of childhood		DOVES_relaxed.owl
MONDO:0035405	biolink:NamedThing	seromucinous cystadenoma of childhood		DOVES_relaxed.owl
MONDO:0035406	biolink:NamedThing	furuncular myiasis due to Dermatobia hominis		DOVES_relaxed.owl
MONDO:0035407	biolink:NamedThing	furuncular myiasis due to Cordylobia anthropophaga		DOVES_relaxed.owl
MONDO:0035408	biolink:NamedThing	furuncular myiasis due to Cordylobia rodhaini		DOVES_relaxed.owl
MONDO:0035410	biolink:NamedThing	isolated congenital aglossia		DOVES_relaxed.owl
MONDO:0035411	biolink:NamedThing	isolated congenital hypoglossia		DOVES_relaxed.owl
MONDO:0035614	biolink:NamedThing	sporadic fatal insomnia	A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years.	DOVES_relaxed.owl
MONDO:0035646	biolink:NamedThing	congenital-onset Steinert myotonic dystrophy		DOVES_relaxed.owl
MONDO:0035663	biolink:NamedThing	neuromyelitis optica spectrum disorder with anti-AQP4 antibodies		DOVES_relaxed.owl
MONDO:0035664	biolink:NamedThing	neuromyelitis optica spectrum disorder with anti-MOG antibodies		DOVES_relaxed.owl
MONDO:0035665	biolink:NamedThing	neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies		DOVES_relaxed.owl
MONDO:0035667	biolink:NamedThing	isolated optic neuritis without anti-MOG antibodies		DOVES_relaxed.owl
MONDO:0035668	biolink:NamedThing	isolated optic neuritis with anti-MOG antibodies		DOVES_relaxed.owl
MONDO:0035678	biolink:NamedThing	Timothy syndrome type 1	Classical Timothy syndrome with cutaneous syndactyly.	DOVES_relaxed.owl
MONDO:0035679	biolink:NamedThing	Timothy syndrome type 2	Classical Timothy syndrome without cutaneous syndactyly.	DOVES_relaxed.owl
MONDO:0035696	biolink:NamedThing	incomplete septal cirrhosis	A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma.	DOVES_relaxed.owl
MONDO:0035713	biolink:NamedThing	FOXG1 syndrome due to intragenic alteration		DOVES_relaxed.owl
MONDO:0035735	biolink:NamedThing	acquired hemophilia A	An acquired form of hemophilia A, resulting in spontaneous bleeding in individuals with no history of bleeding disorders. It is believed to be caused by spontaneous inhibition of clotting factor VIII by autoantibodies, and is usually associated with other autoimmune conditions.	DOVES_relaxed.owl
MONDO:0035736	biolink:NamedThing	acquired hemophilia B		DOVES_relaxed.owl
MONDO:0035940	biolink:NamedThing	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)		DOVES_relaxed.owl
MONDO:0035941	biolink:NamedThing	B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)		DOVES_relaxed.owl
MONDO:0035942	biolink:NamedThing	B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)		DOVES_relaxed.owl
MONDO:0035943	biolink:NamedThing	B-lymphoblastic leukemia/lymphoma with hyperdiploidy		DOVES_relaxed.owl
MONDO:0035944	biolink:NamedThing	B-lymphoblastic leukemia/lymphoma with hypodiploidy		DOVES_relaxed.owl
MONDO:0035945	biolink:NamedThing	B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)		DOVES_relaxed.owl
MONDO:0036217	biolink:NamedThing	lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation		DOVES_relaxed.owl
MONDO:0036218	biolink:NamedThing	lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster		DOVES_relaxed.owl
MONDO:0040728	biolink:NamedThing	Campylobacter fetus infectious disease		DOVES_relaxed.owl
MONDO:0040922	biolink:NamedThing	latent early syphilis		DOVES_relaxed.owl
MONDO:0041052	biolink:NamedThing	postherpetic neuralgia		DOVES_relaxed.owl
MONDO:0041093	biolink:NamedThing	central retinal vein occlusion with macular edema		DOVES_relaxed.owl
MONDO:0041167	biolink:NamedThing	carcinoid crisis	A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia.	DOVES_relaxed.owl
MONDO:0041403	biolink:NamedThing	toxic amblyopia	A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors.	DOVES_relaxed.owl
MONDO:0041535	biolink:NamedThing	mesenteric lymphadenitis due to Yersinia infection	An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis.	DOVES_relaxed.owl
MONDO:0041536	biolink:NamedThing	Far-East scarlet-like fever	A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe.	DOVES_relaxed.owl
MONDO:0041755	biolink:NamedThing	twin reversal arterial perfusion syndrome		DOVES_relaxed.owl
MONDO:0800179	biolink:NamedThing	periprosthetic joint infection	A bacterial infection of the joint that is a complication occurring in 1% to 2% of primary arthroplasties.	DOVES_relaxed.owl
MONDO:8000002	biolink:NamedThing	escherichia coli discitis	Discitis caused by infection with Escherichia coli.	DOVES_relaxed.owl
MONDO:0041996	biolink:NamedThing	thallium poisoning		DOVES_relaxed.owl
MONDO:0800384	biolink:NamedThing	cessium poisoning	A heavy metal poisoning that is caused by exposure to cessium.	DOVES_relaxed.owl
MONDO:0800385	biolink:NamedThing	iron poisoning	A heavy metal poisoning that is caused by exposure to iron. Iron toxicity is classified as corrosive or cellular. Ingested iron can cause direct caustic injury to the gastrointestinal mucosa, resulting in nausea, vomiting, abdominal pain, and diarrhea.	DOVES_relaxed.owl
MONDO:0042458	biolink:NamedThing	Trichinella spiralis infectious disease	An disease or disorder caused by infection with Trichinella spiralis.	DOVES_relaxed.owl
MONDO:0042496	biolink:NamedThing	ergotism	Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine.	DOVES_relaxed.owl
MONDO:0100203	biolink:NamedThing	parainfluenza virus type 1 infectious disease	A disease caused by infection with parainfluenza virus type 1.	DOVES_relaxed.owl
MONDO:0100204	biolink:NamedThing	parainfluenza virus type 2 infectious disease	A disease caused by infection with parainfluenza virus type 2.	DOVES_relaxed.owl
MONDO:0100205	biolink:NamedThing	parainfluenza virus type 4 infectious disease	A disease caused by infection with parainfluenza virus type 4.	DOVES_relaxed.owl
MONDO:0043004	biolink:NamedThing	Weil's disease	A jauncice caused by severe leptospirosis.	DOVES_relaxed.owl
MONDO:0043096	biolink:NamedThing	holoacardius amorphus		DOVES_relaxed.owl
MONDO:0043133	biolink:NamedThing	microcephaly micropenis convulsions		DOVES_relaxed.owl
MONDO:0043191	biolink:NamedThing	radial defect robin sequence		DOVES_relaxed.owl
MONDO:0043330	biolink:NamedThing	Mirizzi syndrome	Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever.	DOVES_relaxed.owl
MONDO:0043589	biolink:NamedThing	femoral neck fracture	Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES.	DOVES_relaxed.owl
MONDO:0043723	biolink:NamedThing	Monteggia's fracture	Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius.	DOVES_relaxed.owl
MONDO:0043759	biolink:NamedThing	abdominal ectopic pregnancy	Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs.	DOVES_relaxed.owl
MONDO:0043904	biolink:NamedThing	leishmaniasis, diffuse cutaneous	A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement.	DOVES_relaxed.owl
MONDO:0044070	biolink:NamedThing	candidemia	A form of invasive candidiasis where species of candida are present in the blood.	DOVES_relaxed.owl
MONDO:0044207	biolink:NamedThing	specific granule deficiency 1	Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.	DOVES_relaxed.owl
MONDO:0044208	biolink:NamedThing	specific granule deficiency 2	Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480).	DOVES_relaxed.owl
MONDO:0044212	biolink:NamedThing	chronic idiopathic urticaria	Chronic form of idiopathic urticaria.	DOVES_relaxed.owl
MONDO:0044333	biolink:NamedThing	alcohol-induced Wernicke-Korsakoff's syndrome	A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues.	DOVES_relaxed.owl
MONDO:0044339	biolink:NamedThing	lumbar disc degenerative disorder	Any degenerative disorder affecting one or more vertebral discs of the lumbar spine.	DOVES_relaxed.owl
MONDO:0044342	biolink:NamedThing	thoracic disc degenerative disorder	Any degenerative disorder affecting one or more vertebral discs of the thoracic spine.	DOVES_relaxed.owl
MONDO:0044343	biolink:NamedThing	cervical disc degenerative disorder	Any degenerative disorder affecting one or more vertebral discs of the cervical spine.	DOVES_relaxed.owl
MONDO:0044350	biolink:NamedThing	hyperparathyroidism, primary, caused by water clear cell hyperplasia		DOVES_relaxed.owl
MONDO:0044700	biolink:NamedThing	SIN3A-related intellectual disability syndrome due to a point mutation		DOVES_relaxed.owl
MONDO:0044753	biolink:NamedThing	lumbar spinal stenosis	A spinal stenosis that involves the lumbar region of vertebral column.	DOVES_relaxed.owl
MONDO:0044762	biolink:NamedThing	diarrheal disease secondary to increased bowel motility	A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease.	DOVES_relaxed.owl
MONDO:0044763	biolink:NamedThing	diarrheal disease secondary to decreased bowel motility	A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion.	DOVES_relaxed.owl
MONDO:0044783	biolink:NamedThing	solid papillary breast carcinoma	A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma.	DOVES_relaxed.owl
MONDO:0044793	biolink:NamedThing	spitz nevus	A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis.	DOVES_relaxed.owl
MONDO:0044797	biolink:NamedThing	desmoplastic nevus	A benign melanocytic nevus characterized by the presence of desmoplastic stroma.	DOVES_relaxed.owl
MONDO:0044795	biolink:NamedThing	epithelioid cell nevus	A nevus characterized by the presence of large epithelioid melanocytes.	DOVES_relaxed.owl
MONDO:0044800	biolink:NamedThing	desmoplastic spitz nevus	A Spitz nevus associated with fibrous stroma formation.	DOVES_relaxed.owl
MONDO:0044817	biolink:NamedThing	acquired idiopathic torsion dystonia	An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0044870	biolink:NamedThing	acquired torsion dystonia	An instance of torsion dystonia that is acquired during the lifetime of the individual.	DOVES_relaxed.owl
MONDO:0044982	biolink:NamedThing	drug pseudoallergy		DOVES_relaxed.owl
MONDO:0045039	biolink:NamedThing	systemic basidiobolomycosis		DOVES_relaxed.owl
MONDO:0045060	biolink:NamedThing	intraductal cribriform breast adenocarcinoma	A ductal carcinoma in situ of the breast characterized by the presence of a cribriform architectural pattern.	DOVES_relaxed.owl
MONDO:0045068	biolink:NamedThing	minor salivary gland adenoid cystic carcinoma	An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass.	DOVES_relaxed.owl
MONDO:0054551	biolink:NamedThing	avascular necrosis of femoral head, primary, 2		DOVES_relaxed.owl
MONDO:0054582	biolink:NamedThing	Townes-Brocks syndrome 2		DOVES_relaxed.owl
MONDO:0054588	biolink:NamedThing	Noonan syndrome-like disorder with loose anagen hair 2		DOVES_relaxed.owl
MONDO:0054637	biolink:NamedThing	Noonan syndrome-like disorder with loose anagen hair 1		DOVES_relaxed.owl
MONDO:0054737	biolink:NamedThing	Fraser syndrome 1		DOVES_relaxed.owl
MONDO:0054738	biolink:NamedThing	Fraser syndrome 2		DOVES_relaxed.owl
MONDO:0054739	biolink:NamedThing	Fraser syndrome 3		DOVES_relaxed.owl
MONDO:0700200	biolink:NamedThing	atypical dopamine transporter deficiency syndrome	A subset of SLC6A3-related DTDS cases which have later onset which ranges from late childhood to adulthood. This disorder is characterized by the presentation of parkinsonism-dystonia, rigidity, tremor, and bradykinesia after normal childhood development.	DOVES_relaxed.owl
MONDO:0054867	biolink:NamedThing	paraomphalocele		DOVES_relaxed.owl
MONDO:0060758	biolink:NamedThing	spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits		DOVES_relaxed.owl
MONDO:0060781	biolink:NamedThing	Preeyasombat-Varavithya syndrome		DOVES_relaxed.owl
MONDO:0100005	biolink:NamedThing	primary mast cell activation syndrome	Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected.	DOVES_relaxed.owl
MONDO:0100006	biolink:NamedThing	secondary mast cell activation syndrome	Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells.	DOVES_relaxed.owl
MONDO:0100013	biolink:NamedThing	paratenonitis with tendinosis	Paratenonitis associated with intratendinous degeneration.	DOVES_relaxed.owl
MONDO:0700090	biolink:NamedThing	epilepsy, familial temporal lobe, 1	An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations.	DOVES_relaxed.owl
MONDO:0100056	biolink:NamedThing	exercise-induced anaphylaxis	A rare disorder in which anaphylaxis occurs in association with physical activity.	DOVES_relaxed.owl
MONDO:0100055	biolink:NamedThing	intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements	Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene.	DOVES_relaxed.owl
MONDO:0100060	biolink:NamedThing	congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements	Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes.	DOVES_relaxed.owl
MONDO:0100067	biolink:NamedThing	childhood spindle cell rhabdomyosarcoma	A spindle cell rhabdomyosarcoma occurring in children.	DOVES_relaxed.owl
MONDO:0100057	biolink:NamedThing	food-dependent exercise-induced anaphylaxis	A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis.	DOVES_relaxed.owl
MONDO:0100074	biolink:NamedThing	norovirus infectious disease	Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans.	DOVES_relaxed.owl
MONDO:0100083	biolink:NamedThing	hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.	DOVES_relaxed.owl
MONDO:0100090	biolink:NamedThing	congenital alveolar dysplasia due to FGF10	Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.	DOVES_relaxed.owl
MONDO:0100097	biolink:NamedThing	congenital alveolar dysplasia due to TBX4	Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.	DOVES_relaxed.owl
MONDO:0100092	biolink:NamedThing	myoclonus, familial, 2	Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13.	DOVES_relaxed.owl
MONDO:0100093	biolink:NamedThing	myoclonus, familial, 1	Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22.	DOVES_relaxed.owl
MONDO:0100119	biolink:NamedThing	Knobloch syndrome 2		DOVES_relaxed.owl
MONDO:0800167	biolink:NamedThing	Knobloch syndrome 1		DOVES_relaxed.owl
MONDO:0100127	biolink:NamedThing	toxic bronchiolitis obliterans	Toxic bronchiolitis whereby a biospy has shown an obliteration of broncioles.	DOVES_relaxed.owl
MONDO:0100130	biolink:NamedThing	adult acute respiratory distress syndrome	A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.	DOVES_relaxed.owl
MONDO:0100131	biolink:NamedThing	pediatric acute respiratory distress syndrome	Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded.	DOVES_relaxed.owl
MONDO:0100149	biolink:NamedThing	PNPLA6-related spastic paraplegia with or without ataxia	An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism.	DOVES_relaxed.owl
MONDO:0100319	biolink:NamedThing	COVID-19–associated multisystem inflammatory syndrome in adults	A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged ≥21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia).	DOVES_relaxed.owl
MONDO:0100168	biolink:NamedThing	desmoid tumor caused by somatic mutation		DOVES_relaxed.owl
MONDO:0100219	biolink:NamedThing	growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant		DOVES_relaxed.owl
MONDO:0100221	biolink:NamedThing	IFAP syndrome 2		DOVES_relaxed.owl
MONDO:0100220	biolink:NamedThing	Rajab interstitial lung disease with brain calcifications 2		DOVES_relaxed.owl
MONDO:0100231	biolink:NamedThing	psoriatic arthritis, susceptibility to, 1	A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement.	DOVES_relaxed.owl
MONDO:0100248	biolink:NamedThing	rapidly progressive primary central nervous system vasculitis	A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions.	DOVES_relaxed.owl
MONDO:0100305	biolink:NamedThing	bile acid CoA:amino acid N-acyltransferase deficiency	Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene.	DOVES_relaxed.owl
MONDO:0100361	biolink:NamedThing	lip herpes simplex type 1 infectious disorder	Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis).	DOVES_relaxed.owl
MONDO:0100362	biolink:NamedThing	lip herpes simplex type 2 infectious disorder	Any herpes simplex type 2 infectious disease that involves the lip.	DOVES_relaxed.owl
MONDO:0100364	biolink:NamedThing	genital herpes simplex type 1 infectious disorder	Any herpes simplex type 1 infectious disease that involves the genitals.	DOVES_relaxed.owl
MONDO:0100363	biolink:NamedThing	genital herpes simplex type 2 infectious disorder	Any herpes simplex type 2 infectious disease that involves the genitals.	DOVES_relaxed.owl
MONDO:0100427	biolink:NamedThing	non-iatrogenic	A characteristic of a diseae in which it does not result from diagnostic and therapeutic procedures undertaken on a patient.	DOVES_relaxed.owl
MONDO:0100428	biolink:NamedThing	progressive bulbar palsy of childhood	A progressive bulbar palsy of childhood that occurs during childhood.	DOVES_relaxed.owl
MONDO:0100435	biolink:NamedThing	Schwartz-Jampel syndrome type 1		DOVES_relaxed.owl
MONDO:0100474	biolink:NamedThing	mild ichthyosis vulgaris	An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations.	DOVES_relaxed.owl
MONDO:0100475	biolink:NamedThing	severe ichthyosis vulgaris	An instance of ichthyosis vulgaris in which the disease presentation is severe in severity. Homozygous FLG mutation carriers often have more severe manifestations.	DOVES_relaxed.owl
MONDO:0100486	biolink:NamedThing	adult acne	Acne that occurs in an adult.	DOVES_relaxed.owl
MONDO:0100491	biolink:NamedThing	generalized pustular psoriasis	A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time.	DOVES_relaxed.owl
MONDO:0600017	biolink:NamedThing	acinar dysplasia caused by mutation in FGF10	Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.	DOVES_relaxed.owl
MONDO:0600018	biolink:NamedThing	acinar dysplasia caused by mutation in FGFR2	Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene.	DOVES_relaxed.owl
MONDO:0600019	biolink:NamedThing	acinar dysplasia caused by mutation in TBX4	Any acinar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.	DOVES_relaxed.owl
MONDO:0600030	biolink:NamedThing	B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)	A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults.	DOVES_relaxed.owl
MONDO:0700006	biolink:NamedThing	non-idiopathic	A disease characteristic in which the disease has a known cause.	DOVES_relaxed.owl
MONDO:0700030	biolink:NamedThing	complete trisomy 21	Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism.	DOVES_relaxed.owl
MONDO:0700127	biolink:NamedThing	mosaic trisomy 21	Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism.	DOVES_relaxed.owl
MONDO:0700031	biolink:NamedThing	mosaic trisomy 18	Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism.	DOVES_relaxed.owl
MONDO:0700032	biolink:NamedThing	complete trisomy 18	Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism.	DOVES_relaxed.owl
MONDO:0700033	biolink:NamedThing	complete trisomy 13	Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism.	DOVES_relaxed.owl
MONDO:0700034	biolink:NamedThing	mosaic trisomy 13	Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism.	DOVES_relaxed.owl
MONDO:0700063	biolink:NamedThing	complete	A disease characteristic in which the cause of the disease is present in all the cells of the organism.	DOVES_relaxed.owl
MONDO:0700078	biolink:NamedThing	triple-positive breast carcinoma	A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).	DOVES_relaxed.owl
MONDO:0700082	biolink:NamedThing	Robertsonian translocation Down syndrome	Chromosomal disorder in which (part or full) chromosome 21 is attached to another chromosome, resulting in the presence of a third copy of part of full chromosome 21 genetic material. A Robertsonian translocation is a structural chromosomal anomaly in which two acrocentric chromosomes break, resulting in the fusion of the nonhomologous chromosomes’ long arms to form a single, large chromosome.	DOVES_relaxed.owl
MONDO:0700128	biolink:NamedThing	translocation Down syndrome	Down syndrome in which the extra (partial or total) copy of chromosome 21 genetic material is attached to another chromosome.	DOVES_relaxed.owl
MONDO:0700083	biolink:NamedThing	reciprocal translocation down syndrome	Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes.	DOVES_relaxed.owl
MONDO:0700129	biolink:NamedThing	mosaic translocation Down syndrome	Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism.	DOVES_relaxed.owl
MONDO:0700093	biolink:NamedThing	balanced Robertsonian translocation Down syndrome	Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occured without loss of chromosomal material between the two nonhomologous chromosomes.	DOVES_relaxed.owl
MONDO:0700094	biolink:NamedThing	unbalanced Robertsonian translocation Down syndrome	Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occured with loss of chromosomal material between the two nonhomologous chromosomes.	DOVES_relaxed.owl
MONDO:0700118	biolink:NamedThing	proximal chromosome 18q deletion syndrome	Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18.	DOVES_relaxed.owl
MONDO:0700119	biolink:NamedThing	distal chromosome 18q deletion syndrome	Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18.	DOVES_relaxed.owl
MONDO:0800032	biolink:NamedThing	MELAS syndrome caused by mutation in MTTL1	Any MELAS syndromein which the cause of the disease is a mutation in the MTTL1 gene.	DOVES_relaxed.owl
MONDO:0800033	biolink:NamedThing	MELAS syndrome caused by mutation in MTTQ	Any MELAS syndromein which the cause of the disease is a mutation in the MTTQ gene.	DOVES_relaxed.owl
MONDO:0800034	biolink:NamedThing	MELAS syndrome caused by mutation in MTTH	Any MELAS syndromein which the cause of the disease is a mutation in the MTTH gene.	DOVES_relaxed.owl
MONDO:0800035	biolink:NamedThing	MELAS syndrome caused by mutation in MTTK	Any MELAS syndromein which the cause of the disease is a mutation in the MTTK gene.	DOVES_relaxed.owl
MONDO:0800036	biolink:NamedThing	MELAS syndrome caused by mutation in MTTC	Any MELAS syndromein which the cause of the disease is a mutation in the MTTC gene.	DOVES_relaxed.owl
MONDO:0800037	biolink:NamedThing	MELAS syndrome caused by mutation in MTTS1	Any MELAS syndromein which the cause of the disease is a mutation in the MTTS1 gene.	DOVES_relaxed.owl
MONDO:0800038	biolink:NamedThing	MELAS syndrome caused by mutation in MTND1	Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene.	DOVES_relaxed.owl
MONDO:0800039	biolink:NamedThing	MELAS syndrome caused by mutation in MTND5	Any MELAS syndromein which the cause of the disease is a mutation in the MTND5 gene.	DOVES_relaxed.owl
MONDO:0800040	biolink:NamedThing	MELAS syndrome caused by mutation in MTND6	Any MELAS syndromein which the cause of the disease is a mutation in the MTND6 gene.	DOVES_relaxed.owl
MONDO:0800041	biolink:NamedThing	MELAS syndrome caused by mutation in MTTS2	Any MELAS syndromein which the cause of the disease is a mutation in the MTTS2 gene.	DOVES_relaxed.owl
MONDO:0800110	biolink:NamedThing	persistent tachypnoe of infancy, aberrant	Persistent tachypnoe of infancy that presents with additional minor abnormalities upon scanning, including ground-glass opacities in other locations, focal consolidations, parenchymal cysts or bronchial wall thickening (N=80; 37%).	DOVES_relaxed.owl
MONDO:0800111	biolink:NamedThing	persistent tachypnoe of infancy, usual	Persistent tachypnoe of infancy that presents with with no other airway or parenchymal abnormalities upon scanning (N=80; 63%).	DOVES_relaxed.owl
MONDO:0800117	biolink:NamedThing	cutaneous botryomycosis	A botromycosis that involves the skin and subcutaneous tissue (it is a more common type).	DOVES_relaxed.owl
MONDO:0800118	biolink:NamedThing	visceral botryomycosis	A botryomycosis that involves internal organs such as lungs, liver, or brain. It is a rare disease and has been described mainly in patients with underlying diseases such as diabetes mellitus, cystic fibrosis, or HIV infection. It is most commonly affecting the lungs, although involvement of other organs including liver, spleen, kidney, and brain has also been described.	DOVES_relaxed.owl
MONDO:0800143	biolink:NamedThing	cytomegalovirus pneumonia due to NOS2 deficiency	Cytomegalovirus pneumonia due to variant in the NOS2 gene.	DOVES_relaxed.owl
MONDO:0800226	biolink:NamedThing	strabismus, susceptibility to, 1		DOVES_relaxed.owl
MONDO:0800308	biolink:NamedThing	orotic aciduria without megaloblastic anemia		DOVES_relaxed.owl
MONDO:0800330	biolink:NamedThing	myoclonic epilepsy, juvenile, 2		DOVES_relaxed.owl
MONDO:0800341	biolink:NamedThing	cap myopathy 1		DOVES_relaxed.owl
MONDO:0800342	biolink:NamedThing	cap myopathy 2		DOVES_relaxed.owl
MONDO:0800436	biolink:NamedThing	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1	Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene.	DOVES_relaxed.owl
MONDO:0800437	biolink:NamedThing	Carey-Fineman-Ziter syndrome 1	A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.	DOVES_relaxed.owl
MONDO:0800438	biolink:NamedThing	developmental delay with short stature, dysmorphic facial features, and sparse hair 1	Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH1 gene.	DOVES_relaxed.owl
MONDO:0850048	biolink:NamedThing	classic eosinophilic pustular folliculitis		DOVES_relaxed.owl
OBO:OAE_0000001	biolink:NamedThing	Adverse Event Outcome	Adverse Event Outcome is a Safety Event Outcome describing a pathological bodily process that occurs after a medical intervention. An adverse event is likely caused by the medical intervention; however, such a causal association is not required to be an adverse event.	DOVES_relaxed.owl
https://purl.org/doves/840177a9-3e6d-4978-ac7a-8580c78443d6	biolink:NamedThing	safety event outcome	A Safety Event Outcome is a Clinical Care Outcome that describes the mitigation (or worsening) of a safety event or side effect that a Digital Medicine Application may help mitigate, or that a Digital Medicine Application may cause.	DOVES_relaxed.owl
http://purl.org/doves/doves-ontology#Critical_Care_Event_Outcome	biolink:NamedThing	critical care event outcome	A Critical Care Event Outcome is a Safety Event Outcome that describes an event in which a person's life is in imminent danger due to a medical reason.	DOVES_relaxed.owl
https://purl.org/doves/e677ffb2-3a5a-4e16-a017-a7268e348735	biolink:NamedThing	reduced adverse event rate outcome	Reduced Adverse Event Rate Outcome is a Safety Event Outcome that describes a digital medicine application's influence on reducing the rate at which adverse events occur.	DOVES_relaxed.owl
OBO:OAE_0000003	biolink:NamedThing	causal adverse event	an adverse event which is a causal adverse event, a pathological bodily process that is induced by a medical intervention.	DOVES_relaxed.owl
OBO:OAE_0000004	biolink:NamedThing	vaccine adverse event	an adverse event that occurs after a vaccination.	DOVES_relaxed.owl
OBO:OAE_0000005	biolink:NamedThing	adverse drug event	an adverse event that occurs after a drug administration	DOVES_relaxed.owl
OBO:OAE_0000008	biolink:NamedThing	nutritional product adverse event	an adverse event that is induced by consuming a nutritional product.	DOVES_relaxed.owl
OBO:OAE_0000027	biolink:NamedThing	musculoskeletal or connective tissue AE	an adverse event that has an outcome of abnormal sign in a musculoskeletal or connective tissue.	DOVES_relaxed.owl
OBO:OAE_0000040	biolink:NamedThing	procedural complication AE	an adverse event that shows a complication that occurs after a medical procedure such as a surgery.	DOVES_relaxed.owl
OBO:OAE_0000041	biolink:NamedThing	injury AE	an adverse event that has an outcome of injury after a medical intervention.	DOVES_relaxed.owl
OBO:OAE_0000052	biolink:NamedThing	tumor AE	an adverse event that results in the outcome of a tumor.	DOVES_relaxed.owl
OBO:OAE_0000063	biolink:NamedThing	systematic AE	an adverse event that occurs systematically throughout the systemic circulation. This is different from local adverse event that is limited or a certain location.	DOVES_relaxed.owl
OBO:OAE_0000069	biolink:NamedThing	metabolism, endocrine or exocrine system AE	an adverse event which occurs in a metabolism process (including anabolism and catabolism), endocrine system, or exocrine system.	DOVES_relaxed.owl
OBO:OAE_0000070	biolink:NamedThing	clinical trial adverse event	an adverse event that occurs in clinical trial.	DOVES_relaxed.owl
OBO:OAE_0000100	biolink:NamedThing	influenza like illness AE	influenza like illness AE is an adverse event that has an outcome of a medical diagnosis of possible influenza or other illness causing a set of common symptoms	DOVES_relaxed.owl
OBO:OAE_0000199	biolink:NamedThing	hair, skin or nail AE	an adverse event that occurs in hair, skin, or nail.	DOVES_relaxed.owl
OBO:OAE_0000204	biolink:NamedThing	congenital AE	an adverse event that displays a congential and genetic disorder.	DOVES_relaxed.owl
OBO:OAE_0000208	biolink:NamedThing	abdominal AE	an adverse event that displays a disorder in abdomen. 	DOVES_relaxed.owl
OBO:OAE_0000209	biolink:NamedThing	genetic AE	an adverse event that results in genetic disorder.	DOVES_relaxed.owl
OBO:OAE_0000211	biolink:NamedThing	ulcer AE	an adverse event that displays an outcome of ulcer. 	DOVES_relaxed.owl
OBO:OAE_0000214	biolink:NamedThing	sclerosis AE	an adverse event that displays an outcome of an sclerosis, the stiffening of a structure, usually caused by a replacement of the normal organ-specific tissue with connective tissue.	DOVES_relaxed.owl
OBO:OAE_0000219	biolink:NamedThing	prenatal, perinatal or neonatal disorder AE	an adverse event that displays a disorder associated with child birth, newborn infant, or an infant. 	DOVES_relaxed.owl
OBO:OAE_0000226	biolink:NamedThing	medical intervention site AE	an adverse event that occurs in the site of a medical intervention (e.g., vaccination injection site).	DOVES_relaxed.owl
OBO:OAE_0000363	biolink:NamedThing	infection AE	an adverse event that has an outcome of a pathogen infection, i.e., an infection caused by a pathogen such as a virus, bacterium, or parasite.	DOVES_relaxed.owl
OBO:OAE_0000364	biolink:NamedThing	syndrome AE	An AE that has an outcome of syndrome. Syndrome is the association of several clinically recognizable features, signs (observed by a physician), symptoms (reported by the patient), phenomena or characteristics that often occur together, so that the presence of one feature alerts the physician to the presence of the others.	DOVES_relaxed.owl
OBO:OAE_0000378	biolink:NamedThing	respiratory system AE	an AE that occurs in respiratory system.	DOVES_relaxed.owl
OBO:OAE_0000436	biolink:NamedThing	hepatobiliary or pancreatic AE	an adverse event that occurs in liver, biliary, and pancreatic areas.	DOVES_relaxed.owl
OBO:OAE_0000439	biolink:NamedThing	digestive system AE	an AE that occurs in digestive system.	DOVES_relaxed.owl
OBO:OAE_0000443	biolink:NamedThing	eye AE	an AE that occurs in eye.	DOVES_relaxed.owl
OBO:OAE_0000465	biolink:NamedThing	ear  AE	an AE that occurs in ear.	DOVES_relaxed.owl
OBO:OAE_0000476	biolink:NamedThing	immune system AE	an AE that occurs in immune system.	DOVES_relaxed.owl
OBO:OAE_0000493	biolink:NamedThing	cardiovascular AE	an AE that occurs in cardiovascular system.	DOVES_relaxed.owl
OBO:OAE_0000555	biolink:NamedThing	homeostasis AE	an AE that occurs in the homeostasis system.	DOVES_relaxed.owl
OBO:OAE_0000570	biolink:NamedThing	nervous system AE	an AE that occurs in nervous system.	DOVES_relaxed.owl
OBO:OAE_0000574	biolink:NamedThing	gustatory system AE	an adverse event that occurs in a gustatory system	DOVES_relaxed.owl
OBO:OAE_0000580	biolink:NamedThing	behavioral and neurological AE	an adverse event that has an outcome of an abnormal behavior and neurological phenotype.	DOVES_relaxed.owl
OBO:OAE_0000588	biolink:NamedThing	hematopoietic system AE	an adverse event which occurs in a hematopoietic system, which is any structural or developmental anomaly of the blood cells or the organs associated with the development and formation of blood cells	DOVES_relaxed.owl
OBO:OAE_0000622	biolink:NamedThing	urinary system AE	an adverse event that has an outcome of urinary system AE is a functional anomaly of any of the organs involved in the production or excretion of urine	DOVES_relaxed.owl
OBO:OAE_0000628	biolink:NamedThing	investigation result abnormal AE	an adverse event that is indicated by an abnormal result of an investigation that uses some laboratory equipment, device, or medical technology.  	DOVES_relaxed.owl
OBO:OAE_0000631	biolink:NamedThing	serious adverse event	serious adverse event is an adverse event that requires in-patient hospitalization, or prolongation of existing hospitalization, or that causes congenital malformation, or that results in persistent or significant disability or incapacity, or that is life threatening or results in death.	DOVES_relaxed.owl
OBO:OAE_0000638	biolink:NamedThing	non-serious adverse event	an adverse event that is considered not serious.	DOVES_relaxed.owl
OBO:OAE_0000651	biolink:NamedThing	reproductive system AE	reproductive system AE is an AE that occurs in the reproductive system.	DOVES_relaxed.owl
OBO:OAE_0001348	biolink:NamedThing	purulent discharge AE	an adverse event with an outcome of the release or secretion of pus	DOVES_relaxed.owl
OBO:OAE_0001438	biolink:NamedThing	suspiciousness AE	Adverse event that is characterized by the patient becoming increasingly suspicious	DOVES_relaxed.owl
OBO:OAE_0001551	biolink:NamedThing	brain AE	an adverse event that occurs in brain. 	DOVES_relaxed.owl
OBO:OAE_0002475	biolink:NamedThing	therapy adverse event	an adverse event that occurs after a therapeutic intervention	DOVES_relaxed.owl
OBO:OAE_0002625	biolink:NamedThing	local AE	an adverse event that occurs locally in a certain location. This is different from the systematci adverse event that occurs throughout the systemtic circulation.	DOVES_relaxed.owl
OBO:OAE_0004330	biolink:NamedThing	nutritional disorder AE	an adverse event that has an outcome of nutrition disorder, which can be caused by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods.	DOVES_relaxed.owl
OBO:OAE_0000007	biolink:NamedThing	medical food adverse event	an adverse event that is associated with eating a medical food.	DOVES_relaxed.owl
OBO:OAE_0000009	biolink:NamedThing	dietary supplement adverse event	an adverse event that is associated with consuming a dietary supplement.	DOVES_relaxed.owl
OBO:OAE_0000010	biolink:NamedThing	infant formula adverse event	an adverse event that is associated with consuming an infant formula.	DOVES_relaxed.owl
OBO:OAE_0000099	biolink:NamedThing	nutritional product-induced adverse event		DOVES_relaxed.owl
OBO:OAE_0000017	biolink:NamedThing	X-ray result abnormal AE	an imaging investigation result abnormal AE that is characterized by an abnormal X-ray	DOVES_relaxed.owl
OBO:OAE_0001701	biolink:NamedThing	imaging investigation result abnormal AE	an investigation result abnormal AE that is characterized by an abnormal result of an imaging investigation	DOVES_relaxed.owl
OBO:OAE_0000832	biolink:NamedThing	computerized tomography result abnormal AE	an imaging investigation result abnormal AE that has an abnormal result of an imaging method in which a cross-sectional image of the structures in a body plane is reconstructed by a computer program from the x-ray absorption of beams projected through the body in the image plane	DOVES_relaxed.owl
OBO:OAE_0001567	biolink:NamedThing	nuclear magnetic resonance imaging result abnormal AE	an imaging investigation result abnormal AE that is indicated by an abnormal result of a procedure in which radio waves and a powerful magnet linked to a computer are used to create detailed pictures of areas inside the body 	DOVES_relaxed.owl
OBO:OAE_0002394	biolink:NamedThing	brain scan abnormal AE	an imaging investigation result abnormal AE  shows how the brain and its tissues are working. Abnormal results may be due to: Alzheimer’s disease or dementia, brain tumors, epilepsy, and movement disorders. 	DOVES_relaxed.owl
OBO:OAE_0000018	biolink:NamedThing	chest X-ray abnormal AE	an X-ray result abnormal AE that has an outcome of an abnormality in chest X-ray test	DOVES_relaxed.owl
OBO:OAE_0000019	biolink:NamedThing	contusion AE	a haematoma AE that has an outcome of contusion. 	DOVES_relaxed.owl
OBO:OAE_0000650	biolink:NamedThing	hematoma AE	an cardiovascular adverse event that is a collection of blood outside the blood vessels, generally the result of hemorrhage, or more specifically, internal bleeding. It is commonly called a bruise.	DOVES_relaxed.owl
OBO:OAE_0000322	biolink:NamedThing	injection-site hematoma AE	a haematoma AE that has an outcome of injection-site haematoma, which results in a collection of blood outside the blood vessels at the physical area of injection	DOVES_relaxed.owl
OBO:OAE_0003031	biolink:NamedThing	Grade 2 hematoma AE	a hematoma AE that requires minimally invasive evacuation or aspiration	DOVES_relaxed.owl
OBO:OAE_0003032	biolink:NamedThing	Grade 3 hematoma AE	a hematoma AE that requires transfusion, radiologic, endoscopic, or elective operative intervention	DOVES_relaxed.owl
OBO:OAE_0003580	biolink:NamedThing	Grade 1 hematoma AE	a hematoma AE that is localized or in a dependent area	DOVES_relaxed.owl
OBO:OAE_0003581	biolink:NamedThing	Grade 2 hematoma AE	a hematoma AE that is generalized	DOVES_relaxed.owl
OBO:OAE_0004428	biolink:NamedThing	subcapsular hematoma AE	An adverse event of hematoma in the subcapsular space of the kidney. This event occurs after a medical intervention, and may be caused by a tumor, trauma, vasculitis, renal infarction, or other disease process.	DOVES_relaxed.owl
OBO:OAE_0004429	biolink:NamedThing	perinephric hematoma AE	An adverse event of hematoma occurring around the kidney.	DOVES_relaxed.owl
OBO:OAE_0000020	biolink:NamedThing	dry throat AE	a digestive system AE which has an outcome of dry throat, which is a sensation of dryness in the throat.	DOVES_relaxed.owl
OBO:OAE_0000253	biolink:NamedThing	acute graft versus host disease in intestine AE	a digestive system AE that has an outcome of a complication during stem cell or bone marrow transplant in which the newly transplanted donor cells in the intestine attack the transplant recipient's body	DOVES_relaxed.owl
OBO:OAE_0000343	biolink:NamedThing	pharyngitis AE	pharyngitis AE is a digestive system AE that results in an inflammation of the throat or pharynx	DOVES_relaxed.owl
OBO:OAE_0000349	biolink:NamedThing	retching AE	retching AE is a digestive system AE that results in a process in the human body where gastric (and sometimes duodenal) contents are forced into the esophagus, but do not enter the pharynx	DOVES_relaxed.owl
OBO:OAE_0000455	biolink:NamedThing	gastrointestinal disorder AE	a digestive system AE which has an outcome of a gastrointestinal disorder	DOVES_relaxed.owl
OBO:OAE_0000505	biolink:NamedThing	dry mouth AE	a digestive system AE which has an outcome of dry mouth, which is dryness of the mouth resulting from reduced salivary secretion	DOVES_relaxed.owl
OBO:OAE_0000511	biolink:NamedThing	abnormal salivary gland physiology AE	a digestive system AE which has an outcome of abnormal salivary gland physiology, which is any functional anomaly of any of the glands in the mouth that secrete saliva	DOVES_relaxed.owl
OBO:OAE_0000513	biolink:NamedThing	tongue disorder	a digestive system AE which has an outcome of tongue disorder	DOVES_relaxed.owl
OBO:OAE_0000532	biolink:NamedThing	abnormal stool AE	a digestive system AE which has an outcome of abnormal stool	DOVES_relaxed.owl
OBO:OAE_0000535	biolink:NamedThing	parotid gland enlargement AE	a digestive system AE which has an outcome of parotid gland enlargement	DOVES_relaxed.owl
OBO:OAE_0000554	biolink:NamedThing	abnormal digestion AE	a digestive system AE which has an outcome of abnormal digestion, which is an altered ability of the mechanical, chemical, and enzymatic processes of the body to convert ingested food into material suitable for assimilation for synthesis of tissues or liberation of energy	DOVES_relaxed.owl
OBO:OAE_0000597	biolink:NamedThing	dysphagia AE	a digestive system AE which has an outcome of dysphagia, which is a behavior and neurological AE that has an outcome of difficulty in swallowing food or liquid	DOVES_relaxed.owl
OBO:OAE_0000603	biolink:NamedThing	abnormal defecation AE	a digestive system AE that has an outcome of abnormal defecation, an anomaly in the production and excretion of feces	DOVES_relaxed.owl
OBO:OAE_0000608	biolink:NamedThing	stomatitis AE	a digestive system AE which has an outcome of stomatitis, which is an inflammation of the mucous lining of the mouth	DOVES_relaxed.owl
OBO:OAE_0000609	biolink:NamedThing	mouth mucosal ulceration AE	a digestive system AE which has an outcome of mouth mucosal ulceration, which is lesions through the mucous membrane of the mouth, usually associated with loss of tissue	DOVES_relaxed.owl
OBO:OAE_0000688	biolink:NamedThing	stomach discomfort AE	a digestive system AE which has an outcome of stomach discomfort	DOVES_relaxed.owl
OBO:OAE_0000707	biolink:NamedThing	bile duct obstruction AE	a digestive system AE that has an outcome of a blockage in the tubes that carry bile from the liber to the gallbladder and small intestine	DOVES_relaxed.owl