Term Name: | xanthinuria type I |
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Synonyms: | XAN1 |
Definition: | A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23. |
Ontology: | Human Disease [DOID:0070452] ( DOID:0070452 ) |