North Carolina macular dystrophy https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/9179/north-carolina-macular-dystrophy https://www.malacards.org/card/macular_dystrophy_retinal_1_north_carolina_type foveal dystrophy, progressive OMIM has the gene DHS6S1 associated with this disease, but this gene does not exist in HGNC. In NCBI gene, it says this DHS6S1 was replaced by LOC111365204 (NCBIgene:111365204), but this gene also does not exist in HGNC. macular dystrophy 1, North Carolina type MCDR1 macular dystrophy retinal 1 North Carolina type OMIM:136550 MESH:C537835 UMLS:C0730294 SCTID:312925009 icd11.foundation:1931008217 CAPE dystrophy North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination. CAPED progressive foveal dystrophy central retinal pigment epithelial dystrophy macular dystrophy, retinal, 1, NORTH Carolina type central areolar pigment epithelial dystrophy DOID:0070439 MONDO:0007630 NCMD GARD:0009179 Orphanet:75327 foveal dystrophy progressive North Carolina macular dystrophy MEDGEN:147590 caped North Carolina macular dystrophy, retinal 1 retinal pigment epithelial dystrophy central macular dystrophy, retinal