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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: combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C, MOCODC, MOCOD type C, molybdenum cofactor deficiency complementation group C
Xenbase Genes : gphn
MONDO:0014212 - sulfite oxidase deficiency due to molybdenum cofactor deficiency type C |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee