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molybdenum cofactor deficiency type C
Summary
- Synonym
-
- MOCOD type C
- MOCODC
- combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C
- 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.
- Super Class
- molybdenum cofactor deficiency
External Links
- Disease Ontology
- DOID:0111166
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- WikiPathways (from TogoID)
