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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:early myoclonic encephalopathy
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Accession:DOID:308 term browser browse the term
Synonyms:exact_synonym: Early Childhood Epilepsy, Myoclonic;   Epileptic seizures, myoclonic;   Infantile Myoclonic Epilepsies;   Infantile Myoclonic Epilepsy;   Infantile Severe Myoclonic Epilepsy;   benign infantile myoclonic epilepsy
 narrow_synonym: Epilepsy, generalized myoclonic, with photosensitivity
For additional species annotation, visit the Alliance of Genome Resources.



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early myoclonic encephalopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diras1 DIRAS family GTPase 1 ISO Epilepsy, generalized myoclonic, with photosensitivity OMIA PMID:28223533 PMID:29194766 NCBI chr 7:8,687,964...8,692,828
Ensembl chr 7:8,687,942...8,693,831
JBrowse link
G Jmjd1c jumonji domain containing 1C ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:22495311 PMID:26181491 PMID:28166811 More... NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122
JBrowse link
G Kcnd2 potassium voltage-gated channel subfamily D member 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:19171772 PMID:24501278 PMID:28166811 More... NCBI chr 4:49,775,812...50,277,746
Ensembl chr 4:49,776,246...50,277,728
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar PMID:1868258 PMID:1893099 PMID:9536098 PMID:10486327 PMID:10521305 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25741868 More... NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:24033266 PMID:25741868 PMID:25769375 PMID:26371875 PMID:27281533 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
JBrowse link
developmental and epileptic encephalopathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3
OMIM
ClinVar
PMID:18414213 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28492532 NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      electroclinical syndrome 704
        neonatal period electroclinical syndrome 539
          early myoclonic encephalopathy 6
            developmental and epileptic encephalopathy 3 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            movement disease 1404
              Dyskinesias 1073
                Myoclonus 124
                  Myoclonic Epilepsies 119
                    early myoclonic encephalopathy 6
                      developmental and epileptic encephalopathy 3 1
paths to the root