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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 IAGP ClinVar Annotator: match by term: Astigmatism ClinVar NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561 		JBrowse link
G EYS eyes shut homolog IAGP ClinVar Annotator: match by term: Astigmatism ClinVar PMID:25741868 NCBI chr 6:63,719,980...65,707,226
Ensembl chr 6:63,719,980...65,707,226 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B IAGP ClinVar Annotator: match by term: Astigmatism ClinVar PMID:25741868 PMID:28377535 PMID:28492532 PMID:34160719 NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002 		JBrowse link
G MCM7 minichromosome maintenance complex component 7 IAGP ClinVar Annotator: match by term: Astigmatism ClinVar PMID:25741868 PMID:33654309 NCBI chr 7:100,092,728...100,101,397
Ensembl chr 7:100,092,233...100,101,940 		JBrowse link
G PHF3 PHD finger protein 3 IAGP ClinVar Annotator: match by term: Astigmatism ClinVar PMID:25741868 NCBI chr 6:63,635,802...63,726,011
Ensembl chr 6:63,635,802...63,779,336 		JBrowse link
G SCLT1 sodium channel and clathrin linker 1 IAGP ClinVar Annotator: match by term: Astigmatism ClinVar NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP ClinVar Annotator: match by term: Astigmatism ClinVar PMID:25741868 NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G ZBTB10 zinc finger and BTB domain containing 10 IAGP ClinVar Annotator: match by term: Astigmatism ClinVar PMID:25741868 NCBI chr 8:80,485,593...80,526,265
Ensembl chr 8:80,485,619...80,526,265 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9728
      eye disease 4940
        refractive error 269
          astigmatism 8
            irregular astigmatism 0
            regular astigmatism 0
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        Neurologic Manifestations 15387
          sensory system disease 9728
            eye disease 4940
              refractive error 269
                astigmatism 8
                  irregular astigmatism 0
                  regular astigmatism 0
paths to the root