molybdenum cofactor deficiency type C

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Summary

Literature (0)

DOID:0111166 - molybdenum cofactor deficiency type C

Disease Ontology Definition:A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23.

Synonyms: MOCOD type C, MOCODC, combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C, molybdenum cofactor deficiency complementation group C,

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

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

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

Parent(s): molybdenum cofactor deficiency (is_a)