Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_oculotrichoanal syndrome	Orphanet_2717
junctional epidermolysis bullosa inversa	MONDO_0019308	[Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.]
X-14658 measurement	EFO_0021376	[Quantification of the amount of X-14658 in a sample.]
obsolete_oculo-skeletal-renal syndrome	Orphanet_2716
generalized junctional epidermolysis bullosa non-Herlitz type	MONDO_0019307	[Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.]
X-14632 measurement	EFO_0021375	[Quantification of the amount of X-14632 in a sample.]
X-14473 measurement	EFO_0021370	[Quantification of the amount of X-14473 in a sample.]
COM-3 cell	BTO_0004263	["A differentiating cell line, established from the mouse myoblastic cell line C2C12." [PMID:9227903]]
INC-2 cell	BTO_0004264	["A non-differentiating cell line, established from the mouse myoblastic cell line C2C12." [PMID:9227903]]
X-14588 measurement	EFO_0021372	[Quantification of the amount of X-14588 in a sample.]
X-14541 measurement	EFO_0021371	[Quantification of the amount of X-14541 in a sample.]
cirrhosis, familial	MONDO_0007329	[Cirrhosis in which no causative agent can be identified.]
obsolete enhanced S-cone syndrome	MONDO_0009989
obsolete paroxysmal nonkinesigenic dyskinesia 1	MONDO_0007326
obsolete_oculo-palato-cerebral syndrome	Orphanet_2714
obsolete_oculoosteocutaneous syndrome	Orphanet_2713
autosomal recessive nonsyndromic hearing loss 7	MONDO_0010967	[Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.]
retinohepatoendocrinologic syndrome	MONDO_0009985	[Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.]
chondrodysplasia punctata, tibial-metacarpal type	MONDO_0007322
autosomal dominant chondrodysplasia punctata	MONDO_0007321	[Autosomal dominant form of chondrodysplasia punctata.]