| Metadata | |
|---|---|
| ID | DOID:0070517 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070517 Copy |
| 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 |
SNOMEDCT_US_2023_03_01:770594005 |
| SKOS |
exactMatch MESH:C562746 exactMatch MIM:608051 exactMatch ORDO:319640 exactMatch SNOMEDCT_US_2023_03_01:770594005 exactMatch UMLS_CUI:C4749334 |
| Subsets |
DO_rare_slim |
| Synonyms |
MCDR2 [EXACT] |
| Parent Relationships |