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Duane retraction syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Duane retraction syndrome
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Accession:EFO:MONDO:0007473 term browser browse the term
Definition:Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.
Synonyms:exact_synonym: DOID:12557;   DRS;   DURS;   Duane syndrome;   Duane's syndrome;   NCIT:C84678;   Orphanet:233;   Stilling-Turk-Duane syndrome;   http://identifiers.org/medgen/4413;   http://identifiers.org/mesh/D004370;   http://identifiers.org/snomedct/60318001;   http://linkedlifedata.com/resource/umls/id/C0013261;   https://omim.org/phenotypicSeries/PS126800
 synonym: http://identifiers.org/meddra/10013799
 related_synonym: Duane anomaly;   retraction syndrome
 alt_id: MONDO:0007473
 xref: DOID:12557;   GARD:6288;   ICD9:378.71;   MEDGEN:4413;   MESH:D004370;   MIM:PS126800;   MedDRA:10013799;   NCI:C84678;   NORD:1062;   ORDO:233;   SCTID:60318001;   UMLS:C0013261
 see_also: https://rarediseases.info.nih.gov/diseases/6288/duane-syndrome" xsd:anyURI {source="GARD:0006288

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            Duane retraction syndrome 0
              Duane retraction syndrome 3 with or without deafness 0
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            peripheral nervous system disease 0
              third cranial nerve disorder 0
                oculomotor nerve paralysis 0
                  nuclear oculomotor paralysis 0
                    Duane retraction syndrome 0
                      Duane retraction syndrome 3 with or without deafness 0
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