ZFIN Human Disease: congenital disorder of glycosylation type IIo

OBO ID: DOID:0070267

Term Name:	congenital disorder of glycosylation type IIo		Search Ontology:
Synonyms:	Carbohydrate deficient glycoprotein syndrome type IIo CCDC115-CDG CDG IIo CDG syndrome type IIo CDG2O CDGIIdo Congenital disorder of glycosylation type 2o
Definition:	A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1. https://www.ncbi.nlm.nih.gov/pubmed/26833332
References:	OMIM:616828 ORDO:468684
Ontology:	Human Disease ( DOID:0070267 )

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 IIo PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CCDC115	ccdc115	Congenital disorder of glycosylation, type IIo	616828

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None