DISEASES

Disease-gene associations mined from literature

Human genes for molybdenum cofactor deficiency type C

Molybdenum cofactor deficiency type C [DOID:0111166]

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

Synonyms:  molybdenum cofactor deficiency type C,  DOID:0111166,  molybdenum cofactor deficiency type Cs,  combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C,  MOCODC ...