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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, 3B
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Accession:DOID:9007664 term browser browse the term
Synonyms:exact_synonym: CFEOM3B
 broad_synonym: blepharoptosis with absent eye movements
 primary_id: MESH:C567739
 alt_id: RDO:0015726
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Fibrosis of Extraocular Muscles, 3B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif21a kinesin family member 21A ISO ClinVar Annotator: match by OMIM:135700
ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b
ClinVar
CTD
PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:25741868 NCBI chr 7:132,069,962...132,200,947
Ensembl chr 7:132,071,116...132,143,470
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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, 3B 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, 3B 1
paths to the root