Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
MIM:300323 - HYPERURICEMIA, HPRT-RELATED; HRH

Xenbase Genes: hprt1

Human Disease Resource: MIM

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

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