sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.
MONDO:0020480
sulfite oxidase deficiency due to molybdenum cofactor deficiency
is_a
MOCOD type C
exact
MOCODC
exact
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C
exact
molybdenum cofactor deficiency C
exact
molybdenum cofactor deficiency, complementation group C
related
molybdenum cofactor deficiency, complementation group type C
exact