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retinitis pigmentosa 48

Disease Summary
Associated Targets (1)


Mondo Description Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene.
Uniprot Description 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.
Disease Ontology Description A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1.
Mondo Term and Equivalent IDs
MONDO:0013447:  retinitis pigmentosa 48