Term Name: | retinal macular dystrophy 2 |
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Synonyms: | MCDR2 |
Definition: | A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32. |
Ontology: | Human Disease [DOID:0070517] ( DOID:0070517 ) |