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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 16123
    physical disorder 2479
      congenital fibrosis of the extraocular muscles 5
        Congenital Fibrosis of Extraocular Muscles, 2 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            cranial nerve disease 407
              ocular motility disease 125
                ophthalmoplegia 66
                  congenital fibrosis of the extraocular muscles 5
                    Congenital Fibrosis of Extraocular Muscles, 2 1
paths to the root