Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_deafness-onychodystrophy syndrome	Orphanet_3231
Deafness - oligodontia	Orphanet_3230
Deafness - vitiligo - achalasia	Orphanet_3239
obsolete_cardiospondylocarpofacial syndrome	Orphanet_3238
Cy3 dye	CHEBI_37987
recessive dystrophic epidermolysis bullosa	MONDO_0009179	[Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.]
obsolete_multiple synostoses syndrome	Orphanet_3237
Conductive deafness - ptosis - skeletal anomalies	Orphanet_3236
Cy5 dye	CHEBI_37989
late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome	MONDO_0009177
orofaciodigital syndrome type 6	MONDO_0010176	[Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.]
Joubert syndrome 17	MONDO_0013824	[Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene.]
amelocerebrohypohidrotic syndrome	MONDO_0009185	[Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.]
congenital bilateral aplasia of vas deferens from CFTR mutation	MONDO_0010178	[An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis.]
junctional epidermolysis bullosa with pyloric atresia	MONDO_0009183	[Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.]
junctional epidermolysis bullosa Herlitz type	MONDO_0009182	[Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.]
epidermolysis bullosa simplex 5B, with muscular dystrophy	MONDO_0009181	[A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.]
coenzyme	CHEBI_23354
Xenopus (Silurana) tropicalis	NCBITaxon_8364
VACTERL with hydrocephalus	MONDO_0010172	[VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.]