Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Townes-Brocks syndrome	MONDO_0007142	[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.]
aortic arch anomaly-facial dysmorphism-intellectual disability syndrome	MONDO_0007143	[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.]
arrhythmogenic right ventricular dysplasia 1	MONDO_0007152	[Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene.]
acquired hemophilia	MONDO_0019139	[Acquired hemophilia A (AHA) is a rare,often severe, hematological autoimmune disorder characterized by spontaneous hemorrhages into the skin, muscles, soft tissues,or mucous membranes.]
bleeding diathesis due to a collagen receptor defect	MONDO_0019138
visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome	MONDO_0019133	[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).]
spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome	MONDO_0019132
ossification anomalies-psychomotor developmental delay syndrome	MONDO_0019131	[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.]
tubular renal disease-cardiomyopathy syndrome	MONDO_0019130	[A syndrome characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.]
arthrogryposis-like hand anomaly-sensorineural deafness syndrome	MONDO_0007159	[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.]
deafness, aminoglycoside-induced	MONDO_0010799
posterior fossa malformation	MONDO_0020133
arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	MONDO_0007158	[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.]
arteriovenous malformations of the brain	MONDO_0007154	[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.]
arteriovenous hemangioma/malformation	MONDO_0001256	[A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures.]
episodic ataxia type 2	MONDO_0007163	[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.]
Stickler syndrome type 1	MONDO_0007160
Wolman disease	MONDO_0019148	[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.]
cholesteryl ester storage disease	MONDO_0019149	[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.]
hereditary thrombophilia due to congenital protein C deficiency	MONDO_0019145	[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.]