Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
holoprosencephaly-postaxial polydactyly syndrome	MONDO_0009921	[Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.]
X-12443 measurement	EFO_0021309	[Quantification of the amount of X-12443 in a sample.]
obsolete_lethal omphalocele-cleft palate syndrome	Orphanet_2736
Acrootoocular syndrome	MONDO_0009920	[Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.]
X12442--5,8-tetradecadienoate measurement	EFO_0021308	[Quantification of the amount of X12442--5,8-tetradecadienoate in a sample.]
obsolete_partial duplication of the short arm of chromosome 17	Orphanet_262803
obsolete_omodysplasia	Orphanet_2733
X-12428 measurement	EFO_0021305	[Quantification of the amount of X-12428 in a sample.]
thiazide-induced hyponatremia	EFO_0008349	[A type of hyponatremia related to ingestion of the diuretic thiazide]
Olivopontocerebellar atrophy - deafness	Orphanet_2732
spondyloepiphyseal dysplasia, Reardon type	MONDO_0010902	[Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.]
X-12407 measurement	EFO_0021304	[Quantification of the amount of X-12407 in a sample.]
Taurodontia - absent teeth - sparse hair	Orphanet_2731
X-12441--12-hydroxyeicosatetraenoate 12-HETE measurement	EFO_0021307	[Quantification of the amount of X-12441--12-hydroxyeicosatetraenoate 12-HETE in a sample.]
obsolete_postaxial tetramelic oligodactyly	Orphanet_2730
X-12435 measurement	EFO_0021306	[Quantification of the amount of X-12435 in a sample.]
X-13069 measurement	EFO_0021345	[Quantification of the amount of X-13069 in a sample.]
X-12990--docosapentaenoic acid n6-DPA measurement	EFO_0021344	[Quantification of the amount of X-12990--docosapentaenoic acid n6-DPA in a sample.]
X-13215 measurement	EFO_0021347	[Quantification of the amount of X-13215 in a sample.]
X-13183--stearamide measurement	EFO_0021346	[Quantification of the amount of X-13183--stearamide in a sample.]