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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 50

Retinitis pigmentosa 50

Synonyms
Retinitis pigmentosa, concentric

Summary

Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene. [from MONDO]

Available tests

56 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (56 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARB, BEST, BMD, Best1V1Delta2, RP50, TU15B, VMD2, BEST1
    Summary: bestrophin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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