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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:OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
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Accession:DOID:9003625 term browser browse the term
Definition:This disease is characterized by congenital nonprogressive external ophthalmoplegia and ptosis, with torticollis and scoliosis developing during childhood. In addition, patients exhibit hypoplastic or missing ribs with fusion anomalies
Synonyms:exact_synonym: EORVA;   external ophthalmoplegia with rib and vertebral anomalies
 primary_id: OMIM:618155
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OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: Ophthalmoplegia, external, with rib and vertebral anomalies OMIM
ClinVar
PMID:10844060 PMID:25741868 PMID:29887215 NCBI chrNW_004936698:1,609,227...1,611,283 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13774
    disease of anatomical entity 13507
      musculoskeletal system disease 6356
        Musculoskeletal Abnormalities 2640
          OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES 1
Path 2
Term Annotations click to browse term
  disease 13774
    disease of anatomical entity 13507
      nervous system disease 11510
        peripheral nervous system disease 2822
          neuropathy 2640
            cranial nerve disease 500
              ocular motility disease 153
                ophthalmoplegia 57
                  OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES 1
paths to the root