Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis. [ Orphanet:3467 ]
Synonyms: classic xanthinuria xanthine dehydrogenase deficiency xanthine stone disease xanthic urolithiasis hereditary xanthinuria
Term information
- SCTID:54627004 (MONDO:equivalentTo)
- OMIMPS:278300 (MONDO:equivalentTo)
- GARD:16628 (Orphanet:3467)
- DOID:0060236 (MONDO:equivalentTo)
- Orphanet:3467 (MONDO:equivalentTo)
- HP:0010934 (MONDO:otherHierarchy)
- ICD9:277.2 (MONDO:relatedTo)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare
http://identifiers.org/snomedct/54627004
http://purl.obolibrary.org/obo/DOID_0060236
http://www.orpha.net/ORDO/Orphanet_3467
https://omim.org/phenotypicSeries/PS278300