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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 Extraocular Muscles, 2
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Accession:DOID:9005788 term browser browse the term
Synonyms:exact_synonym: CFEOM2;   FEOM2 LOCUS
 broad_synonym: congenital fibrosis of extraocular muscles, autosomal recessive
 primary_id: MESH:C566587
 alt_id: OMIM:602078;   RDO:0014901
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:602078 OMIM
ClinVar
PMID:11600883 NCBI chr 1:166,893,734...166,898,252
Ensembl chr 1:166,893,734...166,898,252
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      eye disease 2592
        Hereditary Eye Diseases 572
          Congenital Fibrosis of Extraocular Muscles, 2 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            cranial nerve disease 471
              ocular motility disease 172
                ophthalmoplegia 62
                  congenital fibrosis of the extraocular muscles 4
                    Congenital Fibrosis of Extraocular Muscles, 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.