Search Ontology:
Human Disease
Sveinsson chorioretinal atrophy
- Term ID
- DOID:0111228
- Synonyms
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- atrophia areata
- helicoid peripapillary chorioretinal degeneration
- HPCD
- peripapillary chorioretinal degeneration, Icelandic type
- SCRA
- 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. (2)
- References
-
- MESH:C566236
- MIM:108985
- ORDO:86813
- SNOMEDCT_US_2023_03_01:724384008
- UMLS_CUI:C1862382
- Ontology
- Human Disease ( DOID:0111228 )
- is a type of
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Genes Involved
Zebrafish Models