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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:astigmatism
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Accession:DOID:11782 term browser browse the term
Definition:A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision. (DO)
Synonyms:narrow_synonym: corneal astigmatism
 primary_id: MESH:D001251
 alt_id: OMIM:603047
 xref: EFO:0004222;   EFO:1002040;   ICD10CM:H52.2;   ICD9CM:367.2
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
astigmatism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Astigmatism ClinVar NCBI chr 6:455,856...612,878
Ensembl chr 6:455,851...612,868 		JBrowse link
G EYS eyes shut homolog ISO ClinVar Annotator: match by term: Astigmatism ClinVar PMID:25741868 NCBI chr 1:45,306,446...46,649,722 JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Astigmatism ClinVar PMID:25741868 PMID:28377535 PMID:28492532 PMID:34160719 NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,528...58,927,558 		JBrowse link
G MCM7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Astigmatism ClinVar PMID:25741868 PMID:33654309 NCBI chr 3:8,005,890...8,014,047
Ensembl chr 3:8,005,900...8,014,053 		JBrowse link
G PHF3 PHD finger protein 3 ISO ClinVar Annotator: match by term: Astigmatism ClinVar PMID:25741868 NCBI chr 1:45,219,390...45,295,074
Ensembl chr 1:45,219,448...45,296,401 		JBrowse link
G SCLT1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Astigmatism ClinVar NCBI chr 8:95,949,460...96,199,116
Ensembl chr 8:95,949,572...96,199,110 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Astigmatism ClinVar PMID:25741868 NCBI chr  X:111,176,461...111,233,108
Ensembl chr  X:111,176,495...111,233,099 		JBrowse link
G ZBTB10 zinc finger and BTB domain containing 10 ISO ClinVar Annotator: match by term: Astigmatism ClinVar PMID:25741868 NCBI chr 4:56,138,082...56,174,337
Ensembl chr 4:56,136,033...56,175,296 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    sensory system disease 6506
      eye disease 3323
        refractive error 223
          astigmatism 8
            irregular astigmatism 0
            regular astigmatism 0
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        Neurologic Manifestations 9419
          sensory system disease 6506
            eye disease 3323
              refractive error 223
                astigmatism 8
                  irregular astigmatism 0
                  regular astigmatism 0
paths to the root