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hereditary xanthinuria

^ http://purl.obolibrary.org/obo/MONDO_0018106

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 ]

Term info

database cross reference
  • OMIMPS:278300 (MONDO:equivalentTo)
  • SCTID:54627004 (MONDO:equivalentTo)
  • DOID:0060236 (MONDO:equivalentTo)
  • Orphanet:3467 (MONDO:equivalentTo)
  • HP:0010934 (MONDO:otherHierarchy)
  • ICD9:277.2 (MONDO:relatedTo)
Subsets

ordo_disease

definition

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.

exactMatch

http://identifiers.org/snomedct/54627004, http://purl.obolibrary.org/obo/DOID_0060236, http://purl.obolibrary.org/obo/Orphanet_3467, https://omim.org/phenotypicSeries/PS278300

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019743

has exact synonym

classic xanthinuria, xanthine dehydrogenase deficiency, xanthine stone disease, xanthic urolithiasis, hereditary xanthinuria

has related synonym

xanthinuria

id

MONDO:0018106

Term relations

Equivalent to: