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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 IAGP ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506 		JBrowse link
G CDH3 cadherin 3 IAGP ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain IAGP ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209 		JBrowse link
G COL4A2-AS1 COL4A2 antisense RNA 1 IAGP ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr13:110,502,576...110,508,179
Ensembl chr13:110,502,575...110,508,179 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: concomitant exotropia ClinVar NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 IAGP ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:24033266 PMID:26467025 PMID:28492532 PMID:29799290 PMID:30311386 NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 145369
    sensory system disease 26548
      eye disease 10397
        ocular motility disease 400
          strabismus 54
            exotropia 7
              alternating exotropia 0
              monocular exotropia 0
Path 2
Term Annotations click to browse term
  disease 145369
    disease of anatomical entity 132557
      nervous system disease 70715
        Neurologic Manifestations 37765
          sensory system disease 26548
            eye disease 10397
              refractive error 1340
                hyperopia 66
                  strabismus 54
                    exotropia 7
                      alternating exotropia 0
                      monocular exotropia 0
paths to the root