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retinitis pigmentosa 75
Disease Summary
Associated Targets (1)
Tbio
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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110361
OMIM:617023
UMLS:C4310759
MONDO:0014871
High level summary of knowledge for a disease, including descriptions and datasource references.