molybdenum cofactor deficiency type C Disease Ontology Browser

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Disease Ontology Browser

molybdenum cofactor deficiency type C (DOID:0111166)
Alliance: disease page
Synonyms: combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C; MOCOD type C; MOCODC; molybdenum cofactor deficiency complementation group C
Alt IDs: OMIM:615501, MESH:C565374, ORDO:308400, UMLS_CUI:C1854990
Definition: A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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