FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term molybdenum cofactor deficiency ID (Ontology) DOID:0111165 (Human Disease)
Definition A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage.
Also Known As "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase" ; "MOCOD"
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  inherited metabolic disorder
   |__metal metabolism disorder
       |__molybdenum cofactor deficiency  4 rec.
           |__molybdenum cofactor deficiency type A 1 rec.
           |__molybdenum cofactor deficiency type B 2 rec.
           |__molybdenum cofactor deficiency type C 1 rec.
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Is a metal metabolism disorder
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Synonyms
  • "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase" EXACT
    "MOCOD" EXACT OMO:0003012
Secondary IDs
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GARD:3705
ICD10CM:E72.1
MESH:C535811
MIM:PS252150
ORDO:99732