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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 chrNW_004624817:4,775,176...4,779,694
Ensembl chrNW_004624817:4,775,258...4,779,303 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    physical disorder 4599
      congenital fibrosis of the extraocular muscles 15
        congenital fibrosis of the extraocular muscles 2 1
Path 2
Term Annotations click to browse term
  disease 14102
    Pathological Conditions, Signs and Symptoms 11028
      Signs and Symptoms 9153
        Neurologic Manifestations 8859
          sensory system disease 6215
            eye disease 3170
              ocular motility disease 230
                ophthalmoplegia 72
                  congenital fibrosis of the extraocular muscles 15
                    congenital fibrosis of the extraocular muscles 2 1
paths to the root