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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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Sveinsson chorioretinal atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Sveinsson chorioretinal atrophy ClinVar PMID:25741868 NCBI chr 2:187,799,568...187,823,014
Ensembl chr 2:187,799,568...187,822,997
JBrowse link
G Tead1 TEA domain transcription factor 1 ISO ClinVar Annotator: match by term: Sveinsson choreoretinal atrophy
ClinVar Annotator: match by term: Sveinsson chorioretinal atrophy
OMIM
ClinVar
PMID:15016762 PMID:17689488 PMID:28492532 NCBI chr 1:177,495,500...177,714,795
Ensembl chr 1:177,495,782...177,707,061
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        corneal disease 198
          corneal dystrophy 45
            Sveinsson chorioretinal atrophy 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            corneal disease 198
              corneal dystrophy 45
                Sveinsson chorioretinal atrophy 2
paths to the root