Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_dopamine beta-hydroxylase deficiency	Orphanet_230
obsolete_disorder of thiamine metabolism and transport	Orphanet_298644
negative regulation of mitotic nuclear division	GO_0045839	[Any process that stops, prevents or reduces the rate or extent of mitosis. Mitosis is the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother.]
obsolete_Fibrous dysplasia of bone	Orphanet_249
obsolete_autosomal recessive hypohidrotic ectodermal dysplasia	Orphanet_248
Arrhythmogenic right ventricular dysplasia	Orphanet_247	[Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes.]
obsolete_postaxial acrofacial dysostosis	Orphanet_246
Nager syndrome	Orphanet_245	[Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.]
obsolete_primary ciliary dyskinesia	Orphanet_244
46,XX gonadal dysgenesis	Orphanet_243	[46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.]
Female infertility due to gonadal dysgenesis	Orphanet_399877
Gonadal dysgenesis of gynecological interest	Orphanet_98074
obsolete_46,XY complete gonadal dysgenesis	Orphanet_242	[46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.]
Dyschromatosis universalis	Orphanet_241
Léri-Weill dyschondrosteosis	Orphanet_240	[Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term).]
myelin sheath	GO_0043209	[ An electrically insulating fatty layer that surrounds the axons of many neurons. It is an outgrowth of glial cells: Schwann cells supply the myelin for peripheral neurons while oligodendrocytes supply it to those of the central nervous system. ]
Congenital muscular dystrophy type 1A	Orphanet_258
Epidermolysis bullosa simplex with muscular dystrophy	Orphanet_257	[Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.]
obsolete_early-onset generalized limb-onset dystonia	Orphanet_256
obsolete_dopa-responsive dystonia	Orphanet_255