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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 8
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Accession:DOID:0111451 term browser browse the term
Definition:A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. (DO)
Synonyms:exact_synonym: EMP8;   EPM8;   PME type 8;   progressive myoclonic epilepsy 8;   progressive myoclonic epilepsy due to CERS1 deficiency;   progressive myoclonus epilepsy type 8
 primary_id: OMIM:616230
 xref: ORDO:424027
For additional species annotation, visit the Alliance of Genome Resources.


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progressive myoclonus epilepsy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by OMIM:616230
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 8
ClinVar
OMIM
PMID:19243074, PMID:24782409, PMID:25741868, PMID:28492532, PMID:28991257, PMID:30311386 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 8 ClinVar PMID:19243074, PMID:24782409, PMID:25741868, PMID:28492532, PMID:28991257, PMID:30311386 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      electroclinical syndrome 393
        variable age at onset electroclinical syndrome 54
          progressive myoclonus epilepsy 48
            progressive myoclonus epilepsy 8 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            movement disease 1156
              Dyskinesias 867
                Myoclonus 88
                  Myoclonic Epilepsies 81
                    progressive myoclonus epilepsy 48
                      progressive myoclonus epilepsy 8 2
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.