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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:progressive myoclonus epilepsy 1A
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Accession:DOID:0111452 term browser browse the term
Definition:An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in CSTB on chromosome 21q22.3. (DO)
Synonyms:exact_synonym: EPM1A
 primary_id: OMIM:254800
For additional species annotation, visit the Alliance of Genome Resources.


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progressive myoclonus epilepsy 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cstb cystatin B ISO OMIM NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      electroclinical syndrome 655
        variable age at onset electroclinical syndrome 75
          progressive myoclonus epilepsy 70
            Unverricht-Lundborg syndrome 3
              progressive myoclonus epilepsy 1A 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            movement disease 1240
              Dyskinesias 907
                Myoclonus 123
                  Myoclonic Epilepsies 118
                    progressive myoclonus epilepsy 70
                      Unverricht-Lundborg syndrome 3
                        progressive myoclonus epilepsy 1A 1
paths to the root