|OBO ID: DOID:0080565|
|Term Name:||congenital disorder of glycosylation Im||Search 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. (2)|
|Ontology:||Human Disease (DOID:0080565)|
|is a type of:||
OTHER congenital disorder of glycosylation Im PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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