| Metadata | |
|---|---|
| ID | DOID:0112127 |
| Name | HRPT-related hyperuricemia |
| 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. https://pubmed.ncbi.nlm.nih.gov/10657589/, https://pubmed.ncbi.nlm.nih.gov/2896620/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HPRT deficiency, grade I [EXACT] HPRT partial deficiency [EXACT] HPRT-related gout [EXACT] HPRT-related hyperuricemia [EXACT] HPRT1 partial deficiency [EXACT] hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency [EXACT] hypoxanthine guanine phosphoribosyltransferase deficiency, grade I [EXACT] hypoxanthine guanine phosphoribosyltransferase partial deficiency [EXACT] Kelley-Seegmiller syndrome [EXACT] |
| Parent Relationships |
is_a inherited metabolic disorder is_a hyperuricemia |