Hrpt-Related Hyperuricemia
Disease ID: disease_node_17480
Connections displayed (default: 10).
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| Dbxref | MIM:300323, ORDO:79233 |
|---|---|
| Subclassof | DOID_0080012, DOID_1920, DOID_655 |
| Data Source | DOID |
| Synonyms | HPRT deficiency, grade I, HPRT partial deficiency, HPRT-related gout, HPRT-related hyperuricemia, HPRT1 partial deficiency, Kelley-Seegmiller syndrome, hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency, hypoxanthine guanine phosphoribosyltransferase deficiency, grade I, hypoxanthine guanine phosphoribosyltransferase partial deficiency |
| Doid Label | HRPT-related hyperuricemia |
| Doid 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. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_17480 |
| Doid Id | DOID_0112127 |
| Label | Hrpt-Related Hyperuricemia |
- Outgoing r'ship
SUBCLASS_OFto/from Metabolism, Inborn Errors(ID:disease_node_5171) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Hyperuricemia(ID:disease_node_11095) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)