FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital disorder of glycosylation Im ID (Ontology) DOID:0080565 (Human Disease)
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.
Also Known As "congenital disorder of glycosylation 1m" ; "dolichol kinase deficiency" ; "DOLK-congenital disorder of glycosylation"
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 Genes
 congenital disorder of glycosylation Im       1
 for disease ribbon | congenital disorder of glycosylation Im       1
 model of | congenital disorder of glycosylation Im       1
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autosomal genetic disease
 |__autosomal recessive disease__________________
congenital disorder of glycosylation             |
 |__congenital disorder of glycosylation type I__|
                                                 congenital disorder of glycosylation Im  1 rec.
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Is a congenital disorder of glycosylation type I
autosomal recessive disease
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Synonyms
  • "congenital disorder of glycosylation 1m" EXACT
    "dolichol kinase deficiency" EXACT
    "DOLK-congenital disorder of glycosylation" EXACT
Secondary IDs
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GARD:12393
MIM:610768
ORDO:91131