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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:Duane Retraction Syndrome 3
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Accession:DOID:9005360 term browser browse the term
Synonyms:exact_synonym: DURS3;   Duane retraction syndrome 3 with or without deafness;   Duane retraction syndrome type 3;   Duane syndrome type 3
 broad_synonym: MAFB-RELATED CONDITION
 primary_id: OMIM:617041

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Duane Retraction Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness OMIM
ClinVar		 PMID:27181683 NCBI chrNW_004955445:16,219,675...16,222,913 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      Duane retraction syndrome 13
        Duane Retraction Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6162
            eye disease 3166
              refractive error 220
                hyperopia 41
                  strabismus 34
                    Duane retraction syndrome 13
                      Duane Retraction Syndrome 3 1
paths to the root