ZFIN Human Disease: congenital disorder of glycosylation type IIk

OBO ID: DOID:0070263

Term Name:	congenital disorder of glycosylation type IIk		Search Ontology:
Synonyms:	Carbohydrate deficient glycoprotein syndrome type IIk CDG IIk CDG syndrome type IIk CDG2K CDGIIdk Congenital disorder of glycosylation type 2k TMEM165-CDG
Definition:	A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12. https://www.ncbi.nlm.nih.gov/pubmed/22683087
References:	GARD:12413 OMIM:614727 ORDO:314667
Ontology:	Human Disease ( DOID:0070263 )

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 IIk PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TMEM165	tmem165	Congenital disorder of glycosylation, type IIk	614727

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None