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

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Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          Hereditary Eye Diseases 496
            Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          eye and adnexa disease 1985
            eye disease 1985
              ocular motility disease 103
                ophthalmoplegia 47
                  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.