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Metadata
ID DOID:0111165
Name molybdenum cofactor deficiency
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.
https://en.wikipedia.org/wiki/Molybdenum_cofactor_deficiency, https://ghr.nlm.nih.gov/condition/molybdenum-cofactor-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/10746556
Xrefs

GARD:3705

ICD10CM:E72.1

MESH:C535811

OMIM:PS252150

ORDO:99732

Subsets

DO_rare_slim

Synonyms

combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase [EXACT]

MOCOD [EXACT]

Parent Relationships

is_a metal metabolism disorder

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