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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 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
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by OMIM:600638
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
ClinVar Annotator: match by term: FEOM3 LOCUS
OMIM
ClinVar
PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 PMID:18414213 PMID:20074521 PMID:20829227 PMID:24612975 PMID:25741868 PMID:26775887 PMID:27046833 NCBI chr19:56,220,759...56,229,813
Ensembl chr19:56,220,755...56,229,813
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      congenital fibrosis of the extraocular muscles 5
        Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            cranial nerve disease 407
              ocular motility disease 125
                ophthalmoplegia 66
                  congenital fibrosis of the extraocular muscles 5
                    Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement 1
paths to the root