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 QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer VCMap
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 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 PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) 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 Poster 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 8
go back to main search page
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 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.


show annotations for term's descendants           Sort by:
 
progressive myoclonus epilepsy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc6 armadillo repeat containing 6 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,191,106...19,201,528
Ensembl chr16:19,191,093...19,206,047 		JBrowse link
G Borcs8 BLOC-1 related complex subunit 8 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,274,305...19,280,969
Ensembl chr16:19,274,023...19,280,339 		JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 OMIM
ClinVar		 PMID:9536098 PMID:14648004 PMID:17576681 PMID:17924340 PMID:17936261 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845 		JBrowse link
G Cope COPI coat complex subunit epsilon ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,114,871...19,125,527
Ensembl chr16:19,114,871...19,128,907 		JBrowse link
G Ddx49 DEAD-box helicase 49 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,125,388...19,133,042
Ensembl chr16:19,125,384...19,133,616 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:9536098 PMID:14648004 PMID:17576681 PMID:17924340 PMID:17936261 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519 		JBrowse link
G Homer3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,132,177...19,142,739
Ensembl chr16:19,132,162...19,142,680 		JBrowse link
G Mef2b myocyte enhancer factor 2B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,253,008...19,269,514
Ensembl chr16:19,253,010...19,268,967 		JBrowse link
G Nr2c2ap nuclear receptor 2C2-associated protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,288,454...19,290,940
Ensembl chr16:19,288,454...19,290,719 		JBrowse link
G Rfxank regulatory factor X-associated ankyrin-containing protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255 		JBrowse link
G Slc25a42 solute carrier family 25, member 42 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,213,914...19,251,990
Ensembl chr16:19,213,950...19,237,025 		JBrowse link
G Sugp2 SURP and G patch domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,159,951...19,191,412
Ensembl chr16:19,164,767...19,191,340 		JBrowse link
G Tmem161a transmembrane protein 161A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,237,638...19,248,151
Ensembl chr16:19,238,487...19,248,087 		JBrowse link
G Upf1 UPF1, RNA helicase and ATPase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,076,594...19,097,365
Ensembl chr16:19,076,322...19,096,568 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      electroclinical syndrome 976
        variable age at onset electroclinical syndrome 108
          progressive myoclonus epilepsy 103
            progressive myoclonus epilepsy 8 15
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          brain disease 10618
            movement disease 1737
              Dyskinesias 1394
                Myoclonus 167
                  Myoclonic Epilepsies 162
                    progressive myoclonus epilepsy 103
                      progressive myoclonus epilepsy 8 15
paths to the root