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retinal macular dystrophy 2
Summary
- Synonym
-
- 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.
- Super Class
- retinal macular dystrophy
External Links
- Disease Ontology
- DOID:0070517
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
