Term Name: | molybdenum cofactor deficiency type C |
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Synonyms: | combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C, MOCOD type C, MOCODC, molybdenum cofactor deficiency complementation group C |
Definition: | A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23. |
Ontology: | Human Disease [DOID:0111166] ( DOID:0111166 ) |