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retinitis pigmentosa 75

Disease Summary
Associated Targets (1)


Mondo Description Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene.
Uniprot Description A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP75 inheritance is autosomal recessive.
Disease Ontology Description A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23.
Mondo Term and Equivalent IDs
MONDO:0014871:  retinitis pigmentosa 75