Disease - Retinitis pigmentosa, X-linked, and sinorespiratory infections with or without deafness
- DefinitionA disease characterized by the association of retinitis pigmentosa with recurrent upper and lower airway infections. Some patients also develop progressive hearing loss.
- AcronymRPSRDF
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Browse 1 entry- X-linked retinitis pigmentosa GTPase regulator · Gene: RPGR (RP3, XLRP3) · Homo sapiens (Human) · 1020 amino acids · Evidence at protein level · Annotation score: 5/5