molybdenum cofactor deficiency

molybdenum cofactor deficiency

http://purl.obolibrary.org/obo/DOID_0111165

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. [ http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007637 url:https://en.wikipedia.org/wiki/Molybdenum_cofactor_deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/10746556 http://purl.obolibrary.org/obo/ECO_0007645 url:https://ghr.nlm.nih.gov/condition/molybdenum-cofactor-deficiency ]

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

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database cross reference

ICD10CM:E72.1
MIM:PS252150
GARD:3705
ORDO:99732
MESH:C535811

Subsets

DO_rare_slim

acronym

MOCOD

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disease_ontology

DOID:0111165

Term relations

Subclass of:

metal metabolism disorder