Term Name: | xanthinuria type II |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0070453] ( DOID:0070453 ) |