Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
intellectual disability, autosomal dominant 45	MONDO_0030910
Congenitally uncorrected transposition of the great arteries	Orphanet_860
nafadotride	CHEBI_64191
intellectual disability, autosomal dominant 50	MONDO_0030916
ritanserin	CHEBI_64195
Rhodococcus jostii	NCBITaxon_132919
paroxetine maleate	CHEBI_64194
intellectual disability, autosomal dominant 51	MONDO_0030917
obsolete 46,XY disorder of sex development of gynecological interest	MONDO_0017977
obsolete_mitochondrial membrane transport disorder	Orphanet_254827
classic congenital lipoid adrenal hyperplasia due to STAR deficency	MONDO_0017972
non-classic congenital lipoid adrenal hyperplasia due to STAR deficency	MONDO_0017973
obsolete_Ehlers-Danlos/osteogenesis imperfecta syndrome	Orphanet_230857
autism-facial port-wine stain syndrome	MONDO_0015311	[This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions.]
syndromic optic nerve hypoplasia	MONDO_0015310
benserazide	CHEBI_64187
obsolete_Ehlers-Danlos syndrome, cardiac valvular type	Orphanet_230851	[Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects.]
Familial progressive cardiac conduction defect	Orphanet_871	[Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.]
ovarian teratoma	EFO_0006463	[A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.]
Hallux valgus	HP_0001822	[Lateral deviation of the great toe (i.e., in the direction of the little toe).]