Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
primary coenzyme Q10 deficiency 8	DOID_0070245	[A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ7 on chromosome 16p12.3.]
Recurrent bacterial infections	HP_0002718	[Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.]
Recurrent infections	HP_0002719	[Increased susceptibility to infections.]
collection of hair on face	UBERON_0010165
collection of hairs on head or neck	UBERON_0014382
collection of hairs	UBERON_0010164
anatomical collection	UBERON_0034925
beard	UBERON_0010167
Immunodeficiency	HP_0002721	[Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.]
congenital disorder of glycosylation type IIa	DOID_0070253	[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of MGAT2 on chromosome 14q21.3.]
congenital disorder of glycosylation type IIb	DOID_0070254	[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of MOGS on chromosome 2p13.1.]
X-linked Emery-Dreifuss muscular dystrophy 6	DOID_0070251	[An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of FHL1 on chromosome Xq26.3.]
autosomal dominant Emery-Dreifuss muscular dystrophy 7	DOID_0070252	[An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of TMEM43 on chromosome 3p25.1.]
autosomal dominant Emery-Dreifuss muscular dystrophy 5	DOID_0070250	[An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of SYNE2 on chromosome 14q23.2.]
congenital disorder of glycosylation type IIg	DOID_0070259	[A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG1 on chromosome 17q25.1.]
congenital disorder of glycosylation type IIe	DOID_0070257	[A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG7 on chromosome 16p12.2.]
congenital disorder of glycosylation type IIf	DOID_0070258	[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35A1 on chromosome 6q15.]
congenital disorder of glycosylation type IIc	DOID_0070255	[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35C1 on chromosome 11p11.2.]
congenital disorder of glycosylation type IId	DOID_0070256	[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of B4GALT1 on chromosome 9p21.1.]
familial hyperinsulinemic hypoglycemia 5	DOID_0070220	[A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13.]