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;   Co-Contractive Retraction Syndromes;   DR SYNDROME;   DRRS;   DRS;   DURS1;   DURS2;   DURS3;   DUS;   Duane Anomaly;   Duane Anomaly with Radial Abnormalities and Deafness;   Duane Retraction Syndrome 1;   Duane Retraction Syndrome 2;   Duane Syndrome;   Duane's Syndrome;   Duanes Syndrome;   Isolated Duane Anomalies;   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;   Type 1 Duane Retraction Syndrome;   Type 2 Duane Retraction Syndrome;   acrorenoocular syndromes;   type 3 Duane retraction syndrome
 narrow_synonym: DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS;   DUANE SYNDROME TYPE 1;   DUANE SYNDROME TYPE 2;   DUANE SYNDROME TYPE 3
 primary_id: MESH:D004370
 alt_id: OMIM:126800;   OMIM:604356;   OMIM:617041;   RDO:0000826
 xref: OMIM:PS126800
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Duane retraction syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chn1 chimerin 1 JBrowse link 3 60,512,360 60,668,413 RGD:7240710
RGD:8554872
G Mafb MAF bZIP transcription factor B JBrowse link 3 156,338,993 156,340,913 RGD:8554872
RGD:7240710
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 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 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:1598958
RGD:11554173
RGD:7240710
RGD:8554872
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Duane retraction syndrome 6
        Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
        blepharophimosis, ptosis, and epicanthus inversus syndrome 3
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              refractive error 96
                hyperopia 29
                  strabismus 23
                    Duane retraction syndrome 6
                      Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
                      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.