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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 2 73,610,660 73,775,367 RGD:8554872
RGD:13592920
RGD:11554173
G Mafb v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B (avian) JBrowse link 2 160,363,677 160,367,065 RGD:13592920
RGD:11554173
G Sall4 spalt like transcription factor 4 JBrowse link 2 168,748,332 168,767,201 RGD:11556210
RGD:11554173
RGD:11532205
RGD:11556232
RGD:11556231
RGD:11556215
RGD:11556211
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 coatomer protein complex, subunit beta 2 (beta prime) JBrowse link 9 98,563,731 98,588,375 RGD:8554872
G E330023G01Rik RIKEN cDNA E330023G01 gene JBrowse link 9 98,748,599 98,820,087 RGD:13592920
G Foxl2 forkhead box L2 JBrowse link 9 98,955,607 98,958,126 RGD:1598958
RGD:8554872
RGD:11554173
RGD:13592920
RGD:7240710
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 9 98,588,730 98,601,679 RGD:8554872
Duane Retraction Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mafb v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B (avian) JBrowse link 2 160,363,677 160,367,065 RGD:8554872
Duane Retraction Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chn1 chimerin 1 JBrowse link 2 73,610,660 73,775,367 RGD:8554872
RGD:7240710
Duane Retraction Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mafb v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B (avian) JBrowse link 2 160,363,677 160,367,065 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13044
    syndrome 5779
      Duane retraction syndrome 7
        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 4
Path 2
Term Annotations click to browse term
  disease 13044
    disease of anatomical entity 12695
      nervous system disease 10224
        peripheral nervous system disease 2338
          neuropathy 2164
            cranial nerve disease 405
              ocular motility disease 128
                strabismus 21
                  Duane retraction syndrome 7
                    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 4
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.