| Term Name: | xanthinuria type I |
|---|---|
| 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 ) |