Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 6
go back to main search page
Accession:DOID:0111449 term browser browse the term
Definition:A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. (DO)
Synonyms:exact_synonym: EPM6;   GOSR2-related progressive myoclonus ataxia;   North Sea progressive myoclonus epilepsy;   PME type 6;   PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6;   progressive myoclonic epilepsy 6;   progressive myoclonus epilepsy type 6
 primary_id: OMIM:614018
 xref: GARD:3872;   ORDO:280620


show annotations for term's descendants           Sort by:
progressive myoclonus epilepsy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 OMIM
ClinVar		 PMID:16199547 PMID:19057520 PMID:21549339 PMID:23449775 PMID:24458321 More... NCBI chr11:103,567,675...103,590,139
Ensembl chr11:103,567,675...103,588,724 		JBrowse link
G Kcnq1 potassium voltage-gated channel, subfamily Q, member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 7:142,660,614...142,980,787
Ensembl chr 7:142,660,099...142,980,779 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      electroclinical syndrome 1355
        variable age at onset electroclinical syndrome 209
          progressive myoclonus epilepsy 206
            progressive myoclonus epilepsy 6 2
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            movement disease 2557
              Dyskinesias 2175
                Myoclonus 389
                  Myoclonic Epilepsies 382
                    progressive myoclonus epilepsy 206
                      progressive myoclonus epilepsy 6 2
paths to the root