ZFIN Human Disease: congenital disorder of glycosylation type IIp

OBO ID: DOID:0070268

Term Name:	congenital disorder of glycosylation type IIp		Search Ontology:
Synonyms:	Carbohydrate deficient glycoprotein syndrome type IIp CDG IIp CDG syndrome type IIp CDG2P CDGIIdp Congenital disorder of glycosylation type 2p TMEM199-CDG
Definition:	A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2. https://www.ncbi.nlm.nih.gov/pubmed/26833330
References:	OMIM:616829 ORDO:466703
Ontology:	Human Disease ( DOID:0070268 )

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 IIp PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TMEM199	tmem199	Congenital disorder of glycosylation, type IIp	616829

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None