Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Oculopharyngeal Myopathy with Leukoencephalopathy 1
go back to main search page
Accession:DOID:9001440 term browser browse the term
Synonyms:exact_synonym: OPML1
 primary_id: OMIM:618637
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Oculopharyngeal Myopathy with Leukoencephalopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nutm2f NUT family member 2F ISO ClinVar Annotator: match by term: Oculopharyngeal myopathy with leukoencephalopathy 1 ClinVar PMID:25741868 NCBI chr17:14,423,646...14,437,059
Ensembl chr17:14,423,735...14,431,397
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      musculoskeletal system disease 7137
        muscular disease 1418
          muscle tissue disease 935
            myopathy 769
              Oculopharyngeal Myopathy with Leukoencephalopathy 1 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        peripheral nervous system disease 2975
          neuropathy 2767
            neuromuscular disease 2186
              muscular disease 1418
                muscle tissue disease 935
                  myopathy 769
                    Oculopharyngeal Myopathy with Leukoencephalopathy 1 1
paths to the root