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Metadata
ID	DOID:0070517
Name	retinal macular dystrophy 2
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. https://pubmed.ncbi.nlm.nih.gov/12657606/, https://pubmed.ncbi.nlm.nih.gov/20393116/
Xrefs	MESH:C562746 MIM:608051 ORDO:319640 SNOMEDCT_US_2023_03_01:770594005 UMLS_CUI:C4749334
Subsets	DO_rare_slim
Synonyms	MCDR2 [EXACT]
Parent Relationships	is_a retinal macular dystrophy