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retinitis pigmentosa with or without situs inversus

Disease Summary
Associated Targets (1)


Mondo Description Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene.
Uniprot Description A disorder characterized by variable association of retinitis pigmentosa with situs inversus. 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. Situs inversus is a congenital abnormality in which organs in the thorax and the abdomen are opposite to their normal positions due to lateral transposition.
Disease Ontology Description A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13.
Mondo Term and Equivalent IDs
MONDO:0014186:  retinitis pigmentosa with or without situs inversus