FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Sveinsson chorioretinal atrophy ID (Ontology) DOID:0111228 (Human Disease)
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.
Also Known As "atrophia areata" ; "helicoid peripapillary chorioretinal degeneration" ; "HPCD" (for all, see Synonyms field below)
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 Genes
 Sveinsson chorioretinal atrophy       1
 for disease ribbon | Sveinsson chorioretinal atrophy       1
 model of | Sveinsson chorioretinal atrophy       1
Spanning Tree (Parents/Children)
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  sensory system disease
   |__eye disease
       |__Sveinsson chorioretinal atrophy  1 rec.
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Synonyms
  • "atrophia areata" EXACT
    "helicoid peripapillary chorioretinal degeneration" EXACT
    "HPCD" EXACT OMO:0003012
    "peripapillary chorioretinal degeneration, Icelandic type" EXACT
    "SCRA" EXACT OMO:0003012
Secondary IDs
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MESH:C566236
MIM:108985
ORDO:86813
SNOMEDCT_US_2023_03_01:724384008
UMLS_CUI:C1862382