Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
articular cartilage of joint	UBERON_0010996	[A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints.]
musculoskeletal system	UBERON_0002204	[Anatomical system that consists of the muscular and skeletal systems.]
obsolete_oculocutaneous albinism type 1B	Orphanet_79434
obsolete_oculocutaneous albinism type 3	Orphanet_79433
Nicotiana attenuata	NCBITaxon_49451
obsolete_oculocutaneous albinism type 4	Orphanet_79435
obsolete_Hermansky-Pudlak syndrome	Orphanet_79430	[Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.]
obsolete_oculocutaneous albinism type 2	Orphanet_79432
obsolete_oculocutaneous albinism type 1A	Orphanet_79431
GM17843	CLO_0016458	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17842	CLO_0016457	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
Cichorium intybus	NCBITaxon_13427
GM17850	CLO_0016450	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
obsolete_localized junctional epidermolysis bullosa, non-Herlitz type	Orphanet_251393
GM17844	CLO_0016454	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17845	CLO_0016453	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17846	CLO_0016456	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17847	CLO_0016455	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
MED12-related intellectual disability syndrome	MONDO_0100000	[An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity.]
Rib fusion	HP_0000902	[Complete or partial merging of adjacent ribs.]