Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Weight loss	HP_0001824	[Reduction of total body weight.]
His bundle tachycardia	MONDO_0017989	[His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.]
night blindness-skeletal anomalies-dysmorphism syndrome	MONDO_0015326	[This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).]
Postaxial foot polydactyly	HP_0001830	[Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.]
cataract-deafness-hypogonadism syndrome	MONDO_0015325	[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.]
Short toe	HP_0001831	[A toe that appears disproportionately short compared to the foot.]
cataract-intellectual disability-anal atresia-urinary defects syndrome	MONDO_0015324	[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.]
syngnathia-cleft palate syndrome	MONDO_0017981
Unspecified mitochondrial disorder	Orphanet_254837
humero-radio-ulnar synostosis	MONDO_0017983	[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.]
familial lambdoid synostosis	MONDO_0017984	[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.]
obsolete_Ehlers-Danlos syndrome, vascular-like type	Orphanet_230845	[Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries.]
syngnathia multiple anomalies	MONDO_0017980
obsolete_van der Woude syndrome	Orphanet_888
obsolete_mitochondrial substrate carrier disorder	Orphanet_254830
obsolete_VACTERL/vater association	Orphanet_887
obsolete_Usher syndrome	Orphanet_886	[Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.]
obsolete_tetrasomy 12p	Orphanet_884
obsolete_mitochondrial protein import disorder	Orphanet_254834
Tyrosinemia type 1	Orphanet_882	[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.]