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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:Unverricht-Lundborg syndrome
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Accession:DOID:3535 term browser browse the term
Definition:A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline. (DO)
Synonyms:exact_synonym: Baltic myoclonic epilepsies;   Baltic myoclonic epilepsy;   Baltic myoclonus;   Baltic myoclonus epilepsies;   Baltic myoclonus epilepsy;   EPM1;   Epilepsy, Progressive Myoclonic 1;   Epilepsy, Progressive Myoclonic Type 1;   Mediterranean Myoclonic Epilepsy;   Myoclonic Epilepsy of Unverricht and Lundborg;   ULD;   Unverricht Lundborg disease;   Unverricht disease;   Unverricht diseases;   Unverricht's disease;   progressive myoclonus epilepsy 1;   progressive myoclonus epilepsy of Unverricht and Lundborg
 primary_id: MESH:D020194
 alt_id: OMIM:254800
 xref: GARD:3876;   NCI:C179710
For additional species annotation, visit the Alliance of Genome Resources.


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Unverricht-Lundborg syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSTB cystatin B IAGP
EXP
ISS		 ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
MouseDO		 PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330 		JBrowse link
G LOC130066788 ATAC-STARR-seq lymphoblastoid silent region 13368 IAGP ClinVar Annotator: match by term: Unverricht-Lundborg syndrome ClinVar PMID:8596935 PMID:9012407 PMID:15483648 PMID:22154554 PMID:25741868 More... NCBI chr21:43,775,887...43,776,886 JBrowse link
progressive myoclonus epilepsy 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSTB cystatin B IAGP OMIM NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330 		JBrowse link
progressive myoclonus epilepsy 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861509 BRD4-independent group 4 enhancer GRCh37_chr12:42858567-42859766 IAGP ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B
ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B | ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia		 ClinVar PMID:20301774 PMID:21901791 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:42,464,765...42,465,964 JBrowse link
G LOC129390441 MPRA-validated peak1687 silencer IAGP ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B ClinVar PMID:21276947 PMID:26378787 NCBI chr12:42,480,763...42,480,963 JBrowse link
G LOC130007700 ATAC-STARR-seq lymphoblastoid active region 6212 IAGP ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B ClinVar PMID:18976727 PMID:20301774 PMID:25741868 PMID:28492532 PMID:31035234 More... NCBI chr12:42,469,504...42,469,603 JBrowse link
G LOC130007701 ATAC-STARR-seq lymphoblastoid active region 6213 IAGP ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B ClinVar PMID:28492532 NCBI chr12:42,469,614...42,469,663 JBrowse link
G LOC130007703 ATAC-STARR-seq lymphoblastoid active region 6215 IAGP ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B ClinVar PMID:21276947 PMID:26378787 NCBI chr12:42,479,178...42,479,267 JBrowse link
G LOC130007704 ATAC-STARR-seq lymphoblastoid silent region 4364 IAGP ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B ClinVar PMID:21276947 PMID:26378787 NCBI chr12:42,482,913...42,482,982 JBrowse link
G LOC130007705 ATAC-STARR-seq lymphoblastoid active region 6216 IAGP ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B ClinVar PMID:21276947 PMID:26378787 NCBI chr12:42,483,103...42,483,222 JBrowse link
G LOC130007706 ATAC-STARR-seq lymphoblastoid silent region 4365 IAGP ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B ClinVar PMID:21276947 PMID:26378787 NCBI chr12:42,483,373...42,483,422 JBrowse link
G LOC130007707 ATAC-STARR-seq lymphoblastoid silent region 4366 IAGP ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B ClinVar PMID:21276947 PMID:26378787 NCBI chr12:42,483,493...42,483,752 JBrowse link
G PRICKLE1 prickle planar cell polarity protein 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B | ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia
OMIM:612437
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 More... NCBI chr12:42,456,757...42,589,746
Ensembl chr12:42,456,757...42,590,355 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B ClinVar PMID:25401298 PMID:25741868 PMID:27281533 PMID:28492532 PMID:30335140 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          Nervous System Heredodegenerative Disorders 4549
            Unverricht-Lundborg syndrome 13
              progressive myoclonus epilepsy 1A 1
              progressive myoclonus epilepsy 1B 11
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            movement disease 3274
              Dyskinesias 2681
                Myoclonus 461
                  Myoclonic Epilepsies 453
                    progressive myoclonus epilepsy 261
                      Unverricht-Lundborg syndrome 13
                        progressive myoclonus epilepsy 1A 1
                        progressive myoclonus epilepsy 1B 11
paths to the root