Term Name: | retinitis pigmentosa 78 |
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Synonyms: | RP78 |
Definition: | A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13. |
Ontology: | Human Disease [DOID:0061113] ( DOID:0061113 ) |