congenital disorder of glycosylation Id

Summary

DOID:0080556 - congenital disorder of glycosylation Id

Disease Ontology Definition:A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27.

Synonyms: congenital disorder of glycosylation 1d

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

: alg3

MIM:

MIM:601110 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D

MIM:601110 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D

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 I (is_a)