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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,

Xenbase Genes : gphn

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014212 - sulfite oxidase deficiency due to molybdenum cofactor deficiency type C


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): genetic disease (is_a), molybdenum cofactor deficiency (is_a)