ZFIN Human Disease: congenital disorder of glycosylation type IIg

OBO ID: DOID:0070259

Term Name:	congenital disorder of glycosylation type IIg		Search Ontology:
Synonyms:	Carbohydrate deficient glycoprotein syndrome type IIg CDG IIg CDG2G CDGII/COG1 cerebrocostomandibular-like syndrome CDGIIg
Definition:	A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1. https://www.ncbi.nlm.nih.gov/pubmed/16537452
References:	GARD:10226 MESH:C535756 OMIM:611209 ORDO:263508 SNOMEDCT_US_2023_03_01:718750004 UMLS_CUI:C2931011
Ontology:	Human Disease ( DOID:0070259 )

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 IIg PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COG1	cog1	Congenital disorder of glycosylation, type IIg	611209

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None