| Metadata | |
|---|---|
| ID | DOID:0070439 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070439 Copy |
| Name | North Carolina macular dystrophy |
| Definition | 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. https://pubmed.ncbi.nlm.nih.gov/36243009 |
| Xrefs |
SNOMEDCT_US_2025_09_01:312925009 |
| SKOS |
exactMatch GARD:9179 exactMatch MESH:C537835 exactMatch MIM:136550 exactMatch ORDO:75327 exactMatch UMLS_CUI:C0730294 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
central areolar pigment epithelial dystrophy [EXACT] central retinal pigment epithelial dystrophy [EXACT] MCDR1 [EXACT] NCMD [EXACT] progressive foveal dystrophy [EXACT] retinal macular dystrophy 1 [EXACT] |
| Parent Relationships |