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Disease Ontology Browser
retinal macular dystrophy 2 (DOID:0070517)
Alliance: disease page
Synonyms: MCDR2
Alt IDs: OMIM:608051, MESH:C562746, ORDO:319640, UMLS_CUI:C4749334
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory