ZFIN Human Disease: congenital disorder of glycosylation type IIl

OBO ID: DOID:0070264

Term Name:	congenital disorder of glycosylation type IIl		Search Ontology:
Synonyms:	CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l
Definition:	A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11. https://www.ncbi.nlm.nih.gov/pubmed/20605848
References:	GARD:10944 OMIM:614576 ORDO:464443
Ontology:	Human Disease ( DOID:0070264 )

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 IIl PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COG6	cog6	Congenital disorder of glycosylation, type IIl	614576

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None