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congenital fibrosis of the extraocular muscles 3A - Ontology Report - Rat Genome Database

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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;   MIM:600638

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congenital fibrosis of the extraocular muscles 3A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb3 tubulin, beta 3 class III ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | ClinVar Annotator: match by term: TUBB3-related disorder | ClinVar Annotator: match by term: TUBB3-related tubulinopathy		 OMIM
CTD
ClinVar		 PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 More... NCBI chr19:68,365,687...68,374,741
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    physical disorder 5202
      congenital fibrosis of the extraocular muscles 15
        congenital fibrosis of the extraocular muscles 3A 1
Path 2
Term Annotations click to browse term
  disease 19140
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11222
        Neurologic Manifestations 10464
          sensory system disease 7381
            eye disease 3728
              ocular motility disease 255
                ophthalmoplegia 81
                  congenital fibrosis of the extraocular muscles 15
                    congenital fibrosis of the extraocular muscles 3A 1
paths to the root