OBO ID: DOID:0080565
Term Name: congenital disorder of glycosylation Im Search Ontology:
Synonyms:
  • congenital disorder of glycosylation 1m
  • dolichol kinase deficiency
  • DOLK-congenital disorder of glycosylation
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. (2)
References:
Ontology: Human Disease   (DOID:0080565)
OTHER congenital disorder of glycosylation Im PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DOLK Congenital disorder of glycosylation, type Im 610768
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None