Term Name: retinitis pigmentosa 95
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 )

Relationships
is a type of: autosomal recessive disease retinitis pigmentosa