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Summary Literature (0)
OMIM:300323 - HYPERURICEMIA, HPRT-RELATED; HRH


In Disease Ontology (DO):
DOID:0112127 - HRPT-related hyperuricemia

In Mondo Disease Ontology:
MONDO:0010299 - hypoxanthine guanine phosphoribosyltransferase partial deficiency

Human Disease Resources: OMIM

Xenbase Genes: hprt1