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ONTOLOGY REPORT - ANNOTATIONS


Term:Sveinsson chorioretinal atrophy
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Accession:DOID:0111228 term browser browse the term
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 muation in TEAD1 on 11p15.3. (DO)
Synonyms:exact_synonym: AA;   HPCD;   SCRA;   atrophia areata;   helicoid peripapillary chorioretinal degeneration;   helicoidal peripapillary chorioretinal degeneration;   peripapillary chorioretinal degeneration, Icelandic type
 related_synonym: Sveinsson choreoretinal atrophy
 primary_id: MESH:C566236
 alt_id: OMIM:108985
 xref: ORDO:86813
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Sveinsson chorioretinal atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tead1 TEA domain transcription factor 1 JBrowse link 1 177,495,500 177,714,795 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15851
    sensory system disease 4944
      eye disease 2378
        corneal disease 175
          corneal dystrophy 41
            Sveinsson chorioretinal atrophy 1
Path 2
Term Annotations click to browse term
  disease 15851
    disease of anatomical entity 15243
      nervous system disease 10713
        sensory system disease 4944
          eye disease 2378
            corneal disease 175
              corneal dystrophy 41
                Sveinsson chorioretinal atrophy 1
paths to the root

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