Term Name: molybdenum cofactor deficiency type C
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 )

Relationships
is a type of: molybdenum cofactor deficiency