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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:exotropia
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Accession:DOID:1143 term browser browse the term
Definition:A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction.
Synonyms:exact_synonym: divergent concomitant strabismus;   divergent strabismus;   exodeviation;   exodeviations;   exophoria;   primary exotropia;   secondary exotropia
 narrow_synonym: CONCOMITANT EXOTROPIA
 primary_id: MESH:D005099
 xref: ICD10CM:H50.1;   ICD9CM:378.1;   NCI:C34601
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
exotropia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416 		JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:24033266 PMID:26467025 PMID:28492532 PMID:29799290 PMID:30311386 NCBI chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983 		JBrowse link
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757 		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
            exotropia 6
              alternating exotropia 0
              monocular exotropia 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
                    exotropia 6
                      alternating exotropia 0
                      monocular exotropia 0
paths to the root