ZFIN Human Disease: congenital disorder of glycosylation type IIi

OBO ID: DOID:0070261

Term Name:	congenital disorder of glycosylation type IIi		Search Ontology:
Synonyms:	Carbohydrate deficient glycoprotein syndrome type IIi CDG IIi CDG syndrome type IIi CDG2I CDGIIdi COG5-CDG Congenital disorder of glycosylation type 2i
Definition:	A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. https://www.ncbi.nlm.nih.gov/pubmed/19690088
References:	GARD:12348 OMIM:613612 ORDO:263487
Ontology:	Human Disease ( DOID:0070261 )

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 IIi PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COG5	cog5	Congenital disorder of glycosylation, type IIi	613612

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None