About: molybdenum cofactor deficiency

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	metal metabolism disorder
label	molybdenum cofactor deficiency
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111165
database_cross_reference	GARD:3705 ICD10CM:E72.1 OMIM:PS252150 ORDO:99732
has_exact_synonym	combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase (en) MOCOD (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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.
is subClassOf of	molybdenum cofactor deficiency type B molybdenum cofactor deficiency type A molybdenum cofactor deficiency type C
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944343

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