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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:OCULOMOTOR-ABDUCENS SYNKINESIS
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Accession:DOID:9002297 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by a specific anomaly of extraocular muscle movements involving the oculomotor nerve (cranial nerve III) and the abducens nerve (cranial nerve VI). Affected individuals show ptosis as well as elevation of the eyelid on ipsilateral abduction. The features indicate abnormal innervation of extraocular muscles and suggest synkinesis of the oculomotor and abducens nerves.
Synonyms:exact_synonym: OCABSN
 primary_id: OMIM:619215
For additional species annotation, visit the Alliance of Genome Resources.



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OCULOMOTOR-ABDUCENS SYNKINESIS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Oculomotor-abducens synkinesis OMIM
ClinVar
PMID:31211835 NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18203
    physical disorder 4334
      congenital fibrosis of the extraocular muscles 6
        OCULOMOTOR-ABDUCENS SYNKINESIS 1
Path 2
Term Annotations click to browse term
  disease 18203
    disease of anatomical entity 17561
      nervous system disease 13192
        peripheral nervous system disease 3075
          neuropathy 2858
            cranial nerve disease 538
              ocular motility disease 169
                ophthalmoplegia 68
                  congenital fibrosis of the extraocular muscles 6
                    OCULOMOTOR-ABDUCENS SYNKINESIS 1
paths to the root