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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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
CTD
OMIM
ClinVar
PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
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 ISO OMIM NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
JBrowse link
progressive myoclonus epilepsy 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 More... NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B ClinVar PMID:25401298 PMID:25741868 PMID:27281533 PMID:28492532 PMID:30335140 NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11857
        genetic disease 11365
          Nervous System Heredodegenerative Disorders 2429
            Unverricht-Lundborg syndrome 3
              progressive myoclonus epilepsy 1A 1
              progressive myoclonus epilepsy 1B 2
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        central nervous system disease 11415
          brain disease 10712
            movement disease 1757
              Dyskinesias 1411
                Myoclonus 170
                  Myoclonic Epilepsies 163
                    progressive myoclonus epilepsy 104
                      Unverricht-Lundborg syndrome 3
                        progressive myoclonus epilepsy 1A 1
                        progressive myoclonus epilepsy 1B 2
paths to the root