molybdenum cofactor deficiency

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Summary

Literature (0)

DOID:0111165 - molybdenum cofactor deficiency

Disease Ontology 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.

Synonyms: MOCOD, combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mocs1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): metal metabolism disorder (is_a)