Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
primary autosomal recessive microcephaly 6	DOID_0070290	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12.]
primary microcephaly	DOID_0070297	[A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation.]
multiple epiphyseal dysplasia 2	DOID_0070298	[A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34.]
primary autosomal dominant microcephaly 18	DOID_0070295	[A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21.]
primary autosomal recessive microcephaly 2 with or without cortical malformations	DOID_0070293	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13.]
primary autosomal recessive microcephaly 10	DOID_0070294	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13.]
primary autosomal recessive microcephaly 4	DOID_0070291	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15.]
primary autosomal recessive microcephaly 9	DOID_0070292	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.]
susceptibility to hirschsprung disease 2	OMIM_600155
Hirschsprung's disease	DOID_10487	[A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.]
multiple epiphyseal dysplasia 5	DOID_0070299	[A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24.]
congenital disorder of glycosylation type IIl	DOID_0070264	[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG6 on chromosome 13q14.11.]
congenital disorder of glycosylation type II	DOID_0050571	[A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain.]
congenital disorder of glycosylation type IIm	DOID_0070265	[A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23.]
congenital disorder of glycosylation type IIj	DOID_0070262	[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG4 on chromosome 16q22.1.]
multi-ciliated epithelial cell	CL_0005012
ciliated cell	CL_0000064
congenital disorder of glycosylation type IIk	DOID_0070263	[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM165 on chromosome 4q12.]
congenital disorder of glycosylation type IIh	DOID_0070260	[A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG8 on chromosome 16q22.1.]
congenital disorder of glycosylation type IIi	DOID_0070261	[A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG5 on chromosome 7q22.3.]