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Disease Ontology Browser
congenital disorder of glycosylation Im (DOID:0080565)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1m; dolichol kinase deficiency; DOLK-congenital disorder of glycosylation
Alt IDs: OMIM:610768, ORDO:91131
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory