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ONTOLOGY REPORT - ANNOTATIONS


Term:Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement
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Accession:DOID:9005277 term browser browse the term
Synonyms:exact_synonym: CFEOM3A;   FEOM3 LOCUS
 primary_id: MESH:C567572;   RDO:0015619
 alt_id: OMIM:600638
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Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb3 tubulin, beta 3 class III JBrowse link 19 56,220,759 56,229,813 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15610
    sensory system disease 4770
      eye disease 2339
        Hereditary Eye Diseases 528
          Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement 1
Path 2
Term Annotations click to browse term
  disease 15610
    disease of anatomical entity 14968
      nervous system disease 10400
        peripheral nervous system disease 2183
          neuropathy 2006
            cranial nerve disease 369
              ocular motility disease 114
                ophthalmoplegia 53
                  congenital fibrosis of the extraocular muscles 4
                    Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.