Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Oguchi disease	Orphanet_75382	[Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.]
Cystoid macular dystrophy	Orphanet_75381	[Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis.]
obsolete_focal facial dermal dysplasia type IV	Orphanet_398189
Depressed nasal bridge	HP_0005280	[Posterior positioning of the nasal root in relation to the overall facial profile for age.]
Hypoplastic nasal bridge	HP_0005281
mating type alpha	EFO_0001270	[A S. cerevisiae mating type cells that secrete a pheromone that stimulates a haploids.]
mating type	EFO_0001268	[A mating type is a biomaterial factor which describes the type of sexual reproduction through isogamy occur in eukaryotes that undergo.]
mixed sex population	EFO_0001271	[A biological sex quality inhering in a population of multiple sexes., The total number of individuals inhabiting a particular region or area.]
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Orphanet_254758
blastula 128-cell	EFO_0001273
blastula 1k-cell	EFO_0001274
mating type a	EFO_0001275	[A S. cerevisiae mating type cells that secrete a pheromone that in alpha haploids stimulates processes that lead to mating.]
Slow pupillary light response	HP_0030211	[Reduced velocity and acceleration in the pupillary light response.]
blastula 256-cell	EFO_0001276
blastula 30%-epiboly	EFO_0001277
blastula 512-cell	EFO_0001278
blastula dome	EFO_0001279
obsolete_central areolar choroidal dystrophy	Orphanet_75377
partial deletion of chromosome 2	MONDO_0016867
Familial drusen	Orphanet_75376