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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital fibrosis of the extraocular muscles
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Accession:DOID:0080143 term browser browse the term
Definition:An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position. (DO)
Synonyms:exact_synonym: CFEOM;   Congenital Fibrosis of Extraocular Muscles;   congenital external ophthalmoplegia;   congenital fibrosis syndrome;   congenital ophthalmoplegia;   general fibrosis syndrome
 primary_id: MESH:C580012
 alt_id: RDO:0015875
 xref: GARD:12590;   OMIM:PS135700
For additional species annotation, visit the Alliance of Genome Resources.


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congenital fibrosis of the extraocular muscles term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col25a1 collagen type XXV alpha 1 chain JBrowse link 2 235,515,364 235,705,448 RGD:13592920
G Kif21a kinesin family member 21A JBrowse link 7 132,069,962 132,200,947 RGD:8554872
RGD:13592920
G Phox2a paired-like homeobox 2a JBrowse link 1 166,893,734 166,898,252 RGD:13592920
G Tubb3 tubulin, beta 3 class III JBrowse link 19 56,220,759 56,229,813 RGD:13592920
Congenital Fibrosis of Extraocular Muscles, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif21a kinesin family member 21A JBrowse link 7 132,069,962 132,200,947 RGD:1600402
RGD:8554872
RGD:7240710
Congenital Fibrosis of Extraocular Muscles, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phox2a paired-like homeobox 2a JBrowse link 1 166,893,734 166,898,252 RGD:7240710
RGD:8554872
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
Congenital Fibrosis of Extraocular Muscles, 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif21a kinesin family member 21A JBrowse link 7 132,069,962 132,200,947 RGD:8554872
RGD:11554173
Congenital Fibrosis of Extraocular Muscles, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col25a1 collagen type XXV alpha 1 chain JBrowse link 2 235,515,364 235,705,448 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Pathological Conditions, Signs and Symptoms 7254
      Pathologic Processes 4755
        Fibrosis 1322
          congenital fibrosis of the extraocular muscles 4
            Congenital Fibrosis of Extraocular Muscles, 1 1
            Congenital Fibrosis of Extraocular Muscles, 2 1
            Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement 1
            Congenital Fibrosis of Extraocular Muscles, 3B 1
            Congenital Fibrosis of Extraocular Muscles, 3C 0
            Congenital Fibrosis of Extraocular Muscles, 5 1
            Congenital Fibrosis of Extraocular Muscles, with Synergistic Divergence 0
            Tukel Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        peripheral nervous system disease 1998
          neuropathy 1823
            cranial nerve disease 352
              ocular motility disease 102
                ophthalmoplegia 47
                  congenital fibrosis of the extraocular muscles 4
                    Congenital Fibrosis of Extraocular Muscles, 1 1
                    Congenital Fibrosis of Extraocular Muscles, 2 1
                    Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement 1
                    Congenital Fibrosis of Extraocular Muscles, 3B 1
                    Congenital Fibrosis of Extraocular Muscles, 3C 0
                    Congenital Fibrosis of Extraocular Muscles, 5 1
                    Congenital Fibrosis of Extraocular Muscles, with Synergistic Divergence 0
                    Tukel Syndrome 0
paths to the root