| Metadata | |
|---|---|
| ID | DOID:0070453 |
| Name | xanthinuria type II |
| 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. https://pubmed.ncbi.nlm.nih.gov/11302742/, https://pubmed.ncbi.nlm.nih.gov/23203137/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
XAN2 [EXACT] |
| Parent Relationships |
is_a xanthinuria |