| Metadata | |
|---|---|
| ID | DOID:0111228 |
| Name | Sveinsson chorioretinal atrophy |
| Definition | An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3. https://www.ncbi.nlm.nih.gov/pubmed/15016762, https://www.ncbi.nlm.nih.gov/pubmed/419979 |
| Xrefs |
SNOMEDCT_US_2023_03_01:724384008 |
| Subsets |
DO_rare_slim |
| Synonyms |
atrophia areata [EXACT] helicoid peripapillary chorioretinal degeneration [EXACT] HPCD [EXACT] peripapillary chorioretinal degeneration, Icelandic type [EXACT] SCRA [EXACT] |
| Parent Relationships |
is_a eye disease |