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retinitis pigmentosa 78

Disease Summary
Associated Targets (1)
Tbio

1


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. RP78 inheritance is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0044314:  retinitis pigmentosa 78
UMLS:C4479481: