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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 1
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Accession:DOID:0081015 term browser browse the term
Definition:A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12. (DO)
Synonyms:exact_synonym: CFEOM1;   CFEOM3B;   FEOM1;   congenital fibrosis of extraocular muscles 1;   congenital fibrosis of extraocular muscles 3B
 broad_synonym: blepharoptosis with absent eye movements
 primary_id: OMIM:135700
 alt_id: DOID:9007664;   DOID:9008536;   MESH:C567739
For additional species annotation, visit the Alliance of Genome Resources.



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congenital fibrosis of the extraocular muscles 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif21a kinesin family member 21A ISO DNA:missense mutation:CDS:2860C>T (p.R954W) (human)
ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3B
OMIM
ClinVar
RGD
PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 More... RGD:1600402 NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    physical disorder 4312
      congenital fibrosis of the extraocular muscles 6
        congenital fibrosis of the extraocular muscles 1 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13208
        peripheral nervous system disease 3056
          neuropathy 2837
            cranial nerve disease 533
              ocular motility disease 165
                ophthalmoplegia 66
                  congenital fibrosis of the extraocular muscles 6
                    congenital fibrosis of the extraocular muscles 1 1
paths to the root