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DO Term : molybdenum cofactor deficiency [DOID:0111165] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • MESH:C535811,
  • GARD:3705,
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase,
  • OMIM:PS252150,
  • ORDO:99732,
  • PS252150,
  • MOCOD,
  • ICD10CM:E72.1
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents