ZFIN Human Disease: congenital disorder of glycosylation type IIq

OBO ID: DOID:0070269

Term Name:	congenital disorder of glycosylation type IIq		Search Ontology:
Synonyms:	CDG IIq CDG2Q CDGIIdq COG2-CDG COG2-related congenital disorder of glycosylation
Definition:	A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2. https://www.ncbi.nlm.nih.gov/pubmed/24784932
References:	OMIM:617395 ORDO:435934
Ontology:	Human Disease ( DOID:0070269 )

Relationships

is a type of:	autosomal recessive disease congenital disorder of glycosylation type II autosomal recessive disease congenital disorder of glycosylation type II Show first 5 Terms

OTHER congenital disorder of glycosylation type IIq PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COG2	cog2	?Congenital disorder of glycosylation, type IIq	617395

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None