congenital disorder of glycosylation type IIp

Summary

DOID:0070268 - congenital disorder of glycosylation type IIp

Disease Ontology 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.

Synonyms: Carbohydrate deficient glycoprotein syndrome type IIp, CDG2P, CDGIIdp, CDG IIp, CDGIIp, CDG syndrome type IIp, Congenital disorder of glycosylation type 2p, TMEM199-CDG

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tmem199

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital disorder of glycosylation type II (is_a)