Term Name: | retinitis pigmentosa 95 |
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Synonyms: | RP95 |
Definition: | A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13. |
Ontology: | Human Disease [DOID:0061112] ( DOID:0061112 ) |