ZFIN Human Disease: congenital disorder of glycosylation type IIe

OBO ID: DOID:0070257

Term Name:	congenital disorder of glycosylation type IIe		Search Ontology:
Synonyms:	Carbohydrate deficient glycoprotein syndrome type IIe CDG IIe CDG syndrome type IIe CDG2E CDGIIde COG7-CDG
Definition:	A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. https://www.ncbi.nlm.nih.gov/pubmed/15107842
References:	GARD:9842 MESH:C535754 OMIM:608779 ORDO:79333 SNOMEDCT_US_2023_03_01:717773005 UMLS_CUI:C2931010
Ontology:	Human Disease ( DOID:0070257 )

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 IIe PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COG7	cog7	Congenital disorder of glycosylation, type IIe	608779

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None