| Metadata | |
|---|---|
| ID | DOID:0060236 |
| Name | xanthinuria |
| Definition | 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. http://en.wikipedia.org/wiki/Xanthinuria, https://medlineplus.gov/genetics/condition/hereditary-xanthinuria/, https://www.ncbi.nlm.nih.gov/pubmed/4369449 |
| Xrefs |
SNOMEDCT_US_2023_03_01:190919008 |
| Subsets |
DO_FlyBase_slim DO_rare_slim |
| Synonyms |
classic xanthinuria [EXACT] hereditary xanthinuria [EXACT] xanthine dehydrogenase deficiency [EXACT] xanthine oxidase deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |