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molybdenum cofactor deficiency type A
Summary
- Synonym
-
- MOCOD type A
- MOCODA
- combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
- molybdenum cofactor deficiency complementation group A
- Definition
- A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21.
- Super Class
- molybdenum cofactor deficiency
External Links
- Disease Ontology
- DOID:0111164
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00491 | Purine nucleoside phosphorylase | |
| P15104 | Glutamine synthetase |
