Search Ontology:
Human Disease

Sveinsson chorioretinal atrophy

Term ID
DOID:0111228
Synonyms
  • 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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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