congenital disorder of glycosylation Im

Summary

DOID:0080565 - congenital disorder of glycosylation Im

Disease Ontology Definition:A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34.

Synonyms: congenital disorder of glycosylation 1m, dolichol kinase deficiency, DOLK-congenital disorder of glycosylation

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

: dolk

MIM:

MIM:610768 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M

MIM:610768 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M

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)