| Term Name: | retinal macular dystrophy 2 |
|---|---|
| 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 ) |