retinitis pigmentosa 95 Disease Ontology Browser

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Disease Ontology Browser

retinitis pigmentosa 95 (DOID:0061112)
Alliance: disease page
Synonyms: RP95
Alt IDs: OMIM:620102
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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