Term Name: | molybdenum cofactor deficiency type B |
---|---|
Synonyms: | combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B, MOCOD type B, MOCODB, molybdenum cofactor deficiency complementation group B |
Definition: | A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11. |
Ontology: | Human Disease [DOID:0111163] ( DOID:0111163 ) |