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DOID:0111228 - Sveinsson chorioretinal atrophy
Disease Ontology 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.
Synonyms: HPCD, SCRA, atrophia areata, helicoid peripapillary chorioretinal degeneration, peripapillary chorioretinal degeneration, Icelandic type,
Xenbase Genes
:
tead1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
eye disease (is_a)