congenital disorder of glycosylation Ii

Summary

DOID:0080561 - congenital disorder of glycosylation Ii

Disease Ontology Definition:A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22.

Synonyms: congenital disorder of glycosylation 1i,

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

OMIM:

MIM:607906 - congenital disorder of glycosylation, type ii; cdg1i

MIM:607906 - congenital disorder of glycosylation, type ii; cdg1i

Other Model Organisms: AGR, 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)