OBO ID: DOID:0112127
Term Name: HRPT-related hyperuricemia Search Ontology:
Synonyms:
  • HPRT deficiency, grade I
  • HPRT partial deficiency
  • HPRT-related gout
  • HPRT-related hyperuricemia
  • HPRT1 partial deficiency
  • hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
  • hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
  • hypoxanthine guanine phosphoribosyltransferase partial deficiency
  • Kelley-Seegmiller syndrome
Definition: 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. (2)
References:
Ontology: Human Disease   ( DOID:0112127 )
Relationships
is a type of:
OTHER HRPT-related hyperuricemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HPRT1 Hyperuricemia, HRPT-related 300323
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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