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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;   FEOM1;   KIF21A-RELATED CONDITION;   congenital fibrosis of extraocular muscles 1
 broad_synonym: blepharoptosis with absent eye movements
 related_synonym: CFEOM3B;   congenital fibrosis of extraocular muscles 3B
 primary_id: OMIM:135700
 alt_id: DOID:9007664;   DOID:9008536;   MESH:C567739


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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 ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b | ClinVar Annotator: match by term: KIF21A-related condition OMIM
ClinVar		 PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 More... NCBI chr12:49,260,728...49,410,599
Ensembl chr12:50,120,004...50,267,664 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      congenital fibrosis of the extraocular muscles 13
        congenital fibrosis of the extraocular muscles 1 1
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6624
            eye disease 3375
              ocular motility disease 241
                ophthalmoplegia 71
                  congenital fibrosis of the extraocular muscles 13
                    congenital fibrosis of the extraocular muscles 1 1
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