Xanthinuria
Disease ID: disease_node_17500
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E79.8, MIM:PS278300, ORDO:3467, SNOMEDCT_US_2023_03_01:190919008, UMLS_CUI:C0220988 |
|---|---|
| Subclassof | DOID_653, DOID_0050737 |
| Data Source | DOID |
| Synonyms | classic xanthinuria, hereditary xanthinuria, xanthine dehydrogenase deficiency, xanthine oxidase deficiency |
| Doid Label | xanthinuria |
| Doid Description | A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. NT MGI. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17500 |
| Doid Id | DOID_0060236 |
| Label | Xanthinuria |
- Outgoing r'ship
SUBCLASS_OFto/from Purine-Pyrimidine Metabolic Disorder(ID:disease_node_17499) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)