| Metadata | |
|---|---|
| ID | DOID:0070452 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070452 Copy |
| Name | xanthinuria type I |
| 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. https://pubmed.ncbi.nlm.nih.gov/9153281/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:836343001 |
| Subsets |
DO_rare_slim |
| Synonyms |
XAN1 [EXACT] |
| Parent Relationships |
is_a xanthinuria |