Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Multiple keratoacanthoma, Ferguson-Smith type	Orphanet_65748	[Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.]
Autosomal dominant multiple pterygium syndrome	Orphanet_65743
obsolete_19p13.12 microdeletion syndrome	Orphanet_254346	[19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.]
obsolete_tectal ventricle	EFO_0003501
obsolete_rhombomere 8	EFO_0003500	[Hindbrain segment or neuromere.]
obsolete_basibranchial bone	EFO_0003503	[A basibranchial element that is bone. Basibranchial elements are ventral, median, and associated with a single pharyngeal arch in the pharyngeal arch 3-7 skeleton, Median elements that are ossified within copulae and are not assigned to a specific branchial arch number. They articulate posterolaterally with the hypobranchials.]
Eurotium chevalieri	NCBITaxon_41411
Autosomal recessive spastic ataxia - optic atrophy - dysarthria	Orphanet_254343
obsolete_ventral mesenchyme	EFO_0003502
obsolete_bulbus arteriosus	EFO_0003505	[Multi-tissue structure that consists of three layers and through which the blood exits the heart. The bulbus arteriosus is a pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches.]
obsolete_branchial muscle	EFO_0003504
obsolete_isolated focal cortical dysplasia type Ic	Orphanet_268987
obsolete_congenital insensitivity to pain with hyperhidrosis	Orphanet_217399
obsolete_hypoinsulinemic hypoglycemia and body hemihypertrophy	Orphanet_293964
obsolete_hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome	Orphanet_293967
obsolete_isolated focal cortical dysplasia type Ib	Orphanet_268980
obsolete_Carpenter syndrome	Orphanet_65759	[Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.]
obsolete_Charcot-Marie-Tooth disease type 1	Orphanet_65753
3-hydroxybutyrate	CHEBI_37054	[A hydroxy fatty acid anion that is the conjugate base of 3-hydroxybutyric acid, obtained by deprotonation of the carboxy group; major species at pH 7.3.]
obsolete_distal 7q11.23 microdeletion syndrome	Orphanet_254351