Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_double outlet right ventricle with non-committed subpulmonary ventricular septal defect	Orphanet_99046
ticlopidine	CHEBI_9588
obsolete_hereditary hypotrichosis with recurrent skin vesicles	Orphanet_217407
obsolete_Double outlet right ventricle, Fallot type	Orphanet_99043
progressive encephalopathy with leukodystrophy due to DECR deficiency	MONDO_0014464	[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.]
obsolete_congenitally uncorrected transposition of the great arteries with coarctation	Orphanet_99042
obsolete_double outlet right ventricle with subpulmonary ventricular septal defect	Orphanet_99045
Double outlet right ventricle with subaortic ventricular septal defect	Orphanet_99044
nipple neoplasm	MONDO_0002482	[A benign or malignant neoplasm that arises in the area of the nipple.]
Vaginal mucosal ulceration	HP_0032565
endometrioid tumor	MONDO_0002480	[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.]
dihomo-linoleate (20:2n6)	CHEBI_88670
episodic ataxia type 8	MONDO_0014476
mitochondrial proton-transporting ATP synthase complex deficiency	MONDO_0014471	[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).]
autosomal dominant nonsyndromic hearing loss 65	MONDO_0014470	[Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.]
autosomal recessive limb-girdle muscular dystrophy type 2U	MONDO_0014474	[Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.]
periodic fever-infantile enterocolitis-autoinflammatory syndrome	MONDO_0014472
obsolete food allergy	MONDO_0002497	[OBSOLETE. Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food.]
prostatic acinar adenocarcinoma	MONDO_0002493	[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.]
breast sarcoma	MONDO_0002490	[A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma.]