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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
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Accession:DOID:0080143 term browser browse the term
Definition:An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position. (DO)
Synonyms:exact_synonym: CFEOM;   congenital external ophthalmoplegia;   congenital fibrosis of extraocular muscles;   congenital fibrosis syndrome;   congenital ophthalmoplegia;   general fibrosis syndrome
 primary_id: MESH:C580012
 xref: GARD:12590;   OMIM:PS135700
For additional species annotation, visit the Alliance of Genome Resources.


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congenital fibrosis of the extraocular muscles 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 term: Congenital fibrosis of the extraocular muscles ClinVar NCBI chr12:49,260,728...49,410,599
Ensembl chr12:50,120,004...50,267,664
JBrowse link
Congenital Fibrosis of 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 OMIM NCBI chr12:49,260,728...49,410,599
Ensembl chr12:50,120,004...50,267,664
JBrowse link
Congenital Fibrosis of Extraocular Muscles, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHOX2A paired like homeobox 2A ISO OMIM NCBI chr11:67,317,747...67,322,850 JBrowse link
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b
CTD
ClinVar
PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:25741868 NCBI chr12:49,260,728...49,410,599
Ensembl chr12:50,120,004...50,267,664
JBrowse link
Congenital Fibrosis of Extraocular Muscles, 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL25A1 collagen type XXV alpha 1 chain ISO OMIM NCBI chr 4:101,311,291...101,808,618
Ensembl chr 4:111,886,313...112,378,062
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13605
    physical disorder 2814
      congenital fibrosis of the extraocular muscles 3
        Congenital Fibrosis of Extraocular Muscles, 1 1
        Congenital Fibrosis of Extraocular Muscles, 2 1
        Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement 0
        Congenital Fibrosis of Extraocular Muscles, 3B 1
        Congenital Fibrosis of Extraocular Muscles, 3C 0
        Congenital Fibrosis of Extraocular Muscles, 5 1
        Congenital Fibrosis of Extraocular Muscles, with Synergistic Divergence 0
        Tukel Syndrome 0
Path 2
Term Annotations click to browse term
  disease 13605
    disease of anatomical entity 13266
      nervous system disease 10957
        peripheral nervous system disease 2289
          neuropathy 2125
            cranial nerve disease 389
              ocular motility disease 122
                ophthalmoplegia 55
                  congenital fibrosis of the extraocular muscles 3
                    Congenital Fibrosis of Extraocular Muscles, 1 1
                    Congenital Fibrosis of Extraocular Muscles, 2 1
                    Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement 0
                    Congenital Fibrosis of Extraocular Muscles, 3B 1
                    Congenital Fibrosis of Extraocular Muscles, 3C 0
                    Congenital Fibrosis of Extraocular Muscles, 5 1
                    Congenital Fibrosis of Extraocular Muscles, with Synergistic Divergence 0
                    Tukel Syndrome 0
paths to the root