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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 2
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Accession:DOID:0081016 term browser browse the term
Definition:A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: CFEOM2;   FEOM2 LOCUS;   congenital fibrosis of extraocular muscles 2
 broad_synonym: congenital fibrosis of extraocular muscles, autosomal recessive
 primary_id: MESH:C566587
 alt_id: DOID:9005788;   OMIM:602078


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congenital fibrosis of the 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 ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2 OMIM
ClinVar		 PMID:11600883 PMID:25741868 NCBI chr21:25,895,628...25,900,338
Ensembl chr21:25,892,321...25,900,351 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15615
    physical disorder 4894
      congenital fibrosis of the extraocular muscles 15
        congenital fibrosis of the extraocular muscles 2 1
Path 2
Term Annotations click to browse term
  disease 15615
    Pathological Conditions, Signs and Symptoms 12068
      Signs and Symptoms 9958
        Neurologic Manifestations 9636
          sensory system disease 6673
            eye disease 3382
              ocular motility disease 243
                ophthalmoplegia 81
                  congenital fibrosis of the extraocular muscles 15
                    congenital fibrosis of the extraocular muscles 2 1
paths to the root