A digenic form of retinitis pigmentosa resulting from a mutation in the PRPH2 gene and a null mutation of the ROM1 gene, leading to progressive degeneration of the retina and vision loss.
Comprehensive, easy-to-understand information about this condition
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Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.