DO_rare_slim NCIthesaurus retinal macular dystrophy North Carolina macular dystrophy SNOMEDCT_US_2025_09_01:312925009 disease_ontology DOID:0070439 MIM:136550 NCI:C168999 GARD:9179 ORDO:75327 UMLS_CUI:C0730294 A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. MESH:C537835 NCMD ORDO:75327 MESH:C537835 UMLS_CUI:C0730294 MIM:136550 GARD:9179 MCDR1 central areolar pigment epithelial dystrophy central retinal pigment epithelial dystrophy progressive foveal dystrophy retinal macular dystrophy 1