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Disease Ontology Browser
Sveinsson chorioretinal atrophy (DOID:0111228)
Alliance: disease page
Synonyms: atrophia areata; helicoid peripapillary chorioretinal degeneration; HPCD; peripapillary chorioretinal degeneration, Icelandic type; SCRA
Alt IDs: OMIM:108985, MESH:C566236, ORDO:86813, UMLS_CUI:C1862382
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/28/2024
MGI 6.13
The Jackson Laboratory