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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 3A
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Accession:DOID:0081017 term browser browse the term
Definition:A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24. (DO)
Synonyms:exact_synonym: CFEOM3A;   FEOM3 LOCUS;   congenital fibrosis of extraocular muscles 3A, with or without extraocular involvement
 broad_synonym: TUBB3-RELATED CONDITION;   TUBB3-RELATED DISORDER;   TUBB3-RELATED TUBULINOPATHY
 primary_id: MESH:C567572
 alt_id: DOID:9005277;   OMIM:600638

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Path 1
Term Annotations click to browse term
  disease 14206
    physical disorder 4611
      congenital fibrosis of the extraocular muscles 12
        congenital fibrosis of the extraocular muscles 3A 0
Path 2
Term Annotations click to browse term
  disease 14206
    Pathological Conditions, Signs and Symptoms 11097
      Signs and Symptoms 9201
        Neurologic Manifestations 8902
          sensory system disease 6238
            eye disease 3181
              ocular motility disease 225
                ophthalmoplegia 69
                  congenital fibrosis of the extraocular muscles 12
                    congenital fibrosis of the extraocular muscles 3A 0
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