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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 chr 7:64,822,964...66,015,831
Ensembl chr 7:77,495,909...78,686,763 		JBrowse link
G CDH3 cadherin 3 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr16:49,015,115...49,071,903
Ensembl chr16:68,407,625...68,465,287 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530 		JBrowse link
G LOC100976978 E3 ubiquitin-protein ligase HERC2 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar NCBI chr15:1,590,558...1,800,023
Ensembl chr15:25,536,483...25,746,074 		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 chr18:39,756,531...39,936,317
Ensembl chr18:43,290,579...43,469,921 		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 3:42,973,492...42,997,288
Ensembl chr 3:44,035,815...44,037,557 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15834
    sensory system disease 7072
      eye disease 3630
        ocular motility disease 254
          strabismus 44
            exotropia 6
              alternating exotropia 0
              monocular exotropia 0
Path 2
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      nervous system disease 13588
        Neurologic Manifestations 10068
          sensory system disease 7072
            eye disease 3630
              refractive error 242
                hyperopia 52
                  strabismus 44
                    exotropia 6
                      alternating exotropia 0
                      monocular exotropia 0
paths to the root