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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 16085
    syndrome 7041
      electroclinical syndrome 393
        variable age at onset electroclinical syndrome 53
          progressive myoclonus epilepsy 48
            progressive myoclonus epilepsy 8 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            movement disease 1163
              Dyskinesias 870
                Myoclonus 89
                  Myoclonic Epilepsies 81
                    progressive myoclonus epilepsy 48
                      progressive myoclonus epilepsy 8 2
paths to the root