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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 autism susceptibility candidate 2 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:131,466,171...132,572,059
Ensembl chr 5:131,466,171...132,572,183 		JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr 8:107,237,484...107,283,543
Ensembl chr 8:107,237,523...107,283,929 		JBrowse link
G Col4a2 collagen, type IV, alpha 2 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287 		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 7:55,699,872...55,884,373
Ensembl chr 7:55,699,944...55,881,548 		JBrowse link
G Loxhd1 lipoxygenase homology domains 1 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:24033266 PMID:26467025 PMID:28492532 PMID:29799290 PMID:30311386 NCBI chr18:77,369,354...77,530,628
Ensembl chr18:77,369,654...77,530,626 		JBrowse link
G Pomgnt2 protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:121,810,675...121,825,116
Ensembl chr 9:121,810,672...121,826,176 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16268
    sensory system disease 7194
      eye disease 3727
        ocular motility disease 275
          strabismus 46
            exotropia 6
              alternating exotropia 0
              monocular exotropia 0
Path 2
Term Annotations click to browse term
  disease 16268
    disease of anatomical entity 15860
      nervous system disease 13799
        Neurologic Manifestations 10213
          sensory system disease 7194
            eye disease 3727
              refractive error 248
                hyperopia 54
                  strabismus 46
                    exotropia 6
                      alternating exotropia 0
                      monocular exotropia 0
paths to the root