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

Xenbase Genes: hprt1

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010299 - hypoxanthine guanine phosphoribosyltransferase partial deficiency

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