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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:esotropia
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Accession:DOID:9840 term browser browse the term
Definition:A strabismus that is characterized the eye which turns inward toward the nose. (DO)
Synonyms:exact_synonym: Esodeviation;   Esodeviations;   Esophoria;   Esophorias;   Esotropias;   Intermittent Esotropia;   Intermittent Esotropias;   Internal Strabismus;   Primary Esotropia;   convergence in manifest squint;   convergent strabismus;   cross eye;   cross-eyes;   crossed eyes;   primary esotropias;   secondary esotropia;   secondary esotropias
 primary_id: MESH:D004948
 xref: GARD:8235;   ICD10CM:H50.0;   ICD9CM:378.0;   NCI:C34596


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esotropia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Esotropia ClinVar PMID:25741868 NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      eye disease 3723
        ocular motility disease 258
          strabismus 44
            esotropia 1
              Goldblatt Viljoen Syndrome 0
              accommodative esotropia 0
              alternating esotropia 0
              monocular esotropia 0
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          sensory system disease 7376
            eye disease 3723
              refractive error 243
                hyperopia 51
                  strabismus 44
                    esotropia 1
                      Goldblatt Viljoen Syndrome 0
                      accommodative esotropia 0
                      alternating esotropia 0
                      monocular esotropia 0
paths to the root