Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
biotin	CHEBI_15956
chondromalacia	MONDO_0002342	[Pathological processes involving the chondral tissue (cartilage).]
articular cartilage disorder	MONDO_0003816	[A disease involving the articular cartilage of joint.]
obsolete X chromosome number anomaly	MONDO_0016999
intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	MONDO_0014336
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	MONDO_0014335
severe combined immunodeficiency due to LCK deficiency	MONDO_0014334
NK-cell enteropathy	MONDO_0016996	[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.]
obsolete_tracheal anomaly	Orphanet_156252
obsolete complex chromosomal rearrangement	MONDO_0016998
obsolete peeling skin syndrome type B	MONDO_0016992
generalized peeling skin syndrome type C	MONDO_0016993
microcephalic osteodysplastic primordial dwarfism types I and III	MONDO_0016994	[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.]
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	MONDO_0014332
gluconeogenesis disorder	MONDO_0019225	[An acquired metabolic disease that is has its basis in the disruption of gluconeogenesis.]
Moyamoya disease with early-onset achalasia	MONDO_0014331	[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.]
Moyamoya disease	MONDO_0016820	[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.]
genetic gastro-esophageal disease	MONDO_0015617
Renal pseudohypoaldosteronism type 1	Orphanet_171871
obsolete eculizumab, poor response to	MONDO_0014330