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DO Term : HRPT-related hyperuricemia [DOID:0112127] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3.
  • synonyms:
  • OMIM:300323,
  • ORDO:79233,
  • 300323,
  • Kelley-Seegmiller syndrome,
  • HPRT1 partial deficiency,
  • HPRT-related hyperuricemia,
  • hypoxanthine guanine phosphoribosyltransferase partial deficiency,
  • HPRT partial deficiency,
  • hypoxanthine guanine phosphoribosyltransferase deficiency, grade I,
  • hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency,
  • HPRT deficiency, grade I,
  • HPRT-related gout
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