OBO ID: DOID:0111228
Term Name: Sveinsson chorioretinal atrophy Search Ontology:
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:
Ontology: Human Disease   ( DOID:0111228 )
Relationships
is a type of:
OTHER Sveinsson chorioretinal atrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TEAD1 Sveinsson chorioretinal atrophy 108985
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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