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ONTOLOGY REPORT - ANNOTATIONS


Term:Duane retraction syndrome
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Accession:DOID:12557 term browser browse the term
Definition:A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE.
Synonyms:exact_synonym: Acrorenoocular Syndrome;   Co Contractive Retraction Syndrome;   DR SYNDROME;   DRRS;   DRS;   DUS;   Duane Anomaly;   Duane Anomaly with Radial Abnormalities and Deafness;   Duane Syndrome;   Duane's Syndrome;   Duanes Syndrome;   Isolated Duane Anomaly;   Isolated Duane Retraction Syndrome;   Ocular Retraction Syndrome;   Ocular Retraction Syndromes;   Retraction Syndrome;   Retraction Syndromes;   Stilling Turk Duane syndrome;   Stilling-Turk-Duane syndromes;   acrorenoocular syndromes;   co-contractive retraction syndromes;   isolated Duane anomalies
 primary_id: MESH:D004370
 xref: ICD10CM:H50.81;   ICD9CM:378.71;   NCI:C84678;   OMIM:PS126800;   ORDO:233
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Duane retraction syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chn1 chimerin 1 JBrowse link NW_004936509 4,507,042 4,677,681 RGD:9068941
G Mafb MAF bZIP transcription factor B JBrowse link NW_004936561 1,007,273 1,010,548 RGD:9068941
G Sall4 spalt like transcription factor 4 JBrowse link NW_004936514 3,285,778 3,302,179 RGD:9068941
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 COPI coat complex subunit beta 2 JBrowse link NW_004936540 1,467,169 1,493,218 RGD:9068941
G Foxl2 forkhead box L2 JBrowse link NW_004936540 1,136,403 1,137,984 RGD:7240710
RGD:9068941
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link NW_004936540 1,451,882 1,466,569 RGD:9068941
Duane Retraction Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mafb MAF bZIP transcription factor B JBrowse link NW_004936561 1,007,273 1,010,548 RGD:9068941
Duane Retraction Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chn1 chimerin 1 JBrowse link NW_004936509 4,507,042 4,677,681 RGD:7240710
RGD:9068941
Duane Retraction Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mafb MAF bZIP transcription factor B JBrowse link NW_004936561 1,007,273 1,010,548 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11795
    syndrome 5292
      Duane retraction syndrome 6
        Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
        Duane Retraction Syndrome 1 1
        Duane Retraction Syndrome 2 1
        Duane Retraction Syndrome 3 1
        blepharophimosis, ptosis, and epicanthus inversus syndrome 3
Path 2
Term Annotations click to browse term
  disease 11795
    disease of anatomical entity 11487
      nervous system disease 9374
        peripheral nervous system disease 2187
          neuropathy 2028
            cranial nerve disease 360
              ocular motility disease 105
                strabismus 20
                  Duane retraction syndrome 6
                    Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
                    Duane Retraction Syndrome 1 1
                    Duane Retraction Syndrome 2 1
                    Duane Retraction Syndrome 3 1
                    blepharophimosis, ptosis, and epicanthus inversus syndrome 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.