congenital disorder of glycosylation type IId

Summary

DOID:0070256 - congenital disorder of glycosylation type IId

Disease Ontology Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1.

Synonyms: CDG2D, CDG IId, CDGIId

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

: b4galt1.2, b4galt1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011772 - lower jaw opening

MONDO:0011772 - lower jaw opening

MIM:

MIM:607091 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D

MIM:607091 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D

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)