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Disease Ontology Browser
HRPT-related hyperuricemia (DOID:0112127)
Alliance: disease page
Synonyms: HPRT1 partial deficiency; HPRT deficiency, grade I; HPRT partial deficiency; HPRT-related gout; HPRT-related hyperuricemia; hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; hypoxanthine guanine phosphoribosyltransferase partial deficiency; Kelley-Seegmiller syndrome
Alt IDs: OMIM:300323, ORDO:79233
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory