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xanthinuria type II
Summary
- Synonym
-
- XAN2
- Definition
- A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12.
- Super Class
- xanthinuria
External Links
- Disease Ontology
- DOID:0070453
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
