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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 form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.
Synonyms:exact_synonym: Convergence in manifest squint;   Cross-Eyes;   Esodeviation;   Esodeviations;   Esophoria;   Esophorias;   Esotropias;   Intermittent Esotropia;   Intermittent Esotropias;   Internal Strabismus;   Primary Esotropia;   Primary Esotropias;   convergent strabismus;   cross eye;   crossed eyes;   secondary esotropia;   secondary esotropias
 primary_id: MESH:D004948
 alt_id: RDO:0003093
 xref: GARD:8235;   ICD10CM:H50.0;   ICD9CM:378.0;   NCI:C34596
For additional species annotation, visit the Alliance of Genome Resources.


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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: Convergent strabismus ClinVar PMID:25741868 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    sensory system disease 5332
      eye disease 2643
        ocular motility disease 133
          strabismus 22
            esotropia 1
              Goldblatt Viljoen Syndrome 0
              accommodative esotropia 0
              alternating esotropia 0
              monocular esotropia 0
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        peripheral nervous system disease 2421
          neuropathy 2233
            cranial nerve disease 416
              ocular motility disease 133
                strabismus 22
                  esotropia 1
                    Goldblatt Viljoen Syndrome 0
                    accommodative esotropia 0
                    alternating esotropia 0
                    monocular esotropia 0
paths to the root