Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Arterial stenosis	HP_0100545	[Narrowing or constriction of the inner surface (lumen) of an artery.]
HCC1187	EFO_0001170
HCC1428	EFO_0001171
Tricuspid regurgitation	HP_0005180	[Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.]
HCC1500	EFO_0001172
HCC1569	EFO_0001173
HCC1937	EFO_0001174
HCC1954	EFO_0001175
HCC202	EFO_0001176
HCC2157	EFO_0001177
HCC2185	EFO_0001178
HCC3153	EFO_0001179
obsolete_distal myopathy with posterior leg and anterior hand involvement	Orphanet_63273
mitochondrial membrane transport disorder	MONDO_0016800
mitochondrial protein import disorder	MONDO_0016802
unspecified inborn mitochondrial disorder	MONDO_0016803
nasopharyngeal disorder	MONDO_0004821	[A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma.]
peripheral nerve schwannoma	MONDO_0004820	[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.]
dopa-responsive dystonia	MONDO_0016812	[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.]
obsolete_lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy	Orphanet_156156