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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:congenital fibrosis of the extraocular muscles 3C
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Accession:DOID:0081019 term browser browse the term
Definition:A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11). (DO)
Synonyms:exact_synonym: CFEOM3C;   congenital fibrosis of extraocular muscles 3C
 primary_id: MESH:C567666
 alt_id: DOID:9000360;   OMIM:609384


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Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital fibrosis of the extraocular muscles 15
        congenital fibrosis of the extraocular muscles 3C 0
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13342
      Signs and Symptoms 10818
        Neurologic Manifestations 10052
          sensory system disease 6960
            eye disease 3490
              ocular motility disease 247
                ophthalmoplegia 81
                  congenital fibrosis of the extraocular muscles 15
                    congenital fibrosis of the extraocular muscles 3C 0
paths to the root