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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:An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAXIA, slowly progressive intellectual deterioration, dysarthria, and intention tremor. Myoclonic seizures are severe and continuous, and tend to be triggered by movement, stress, and sensory stimuli. The age of onset is between 8 and 13 years, and the condition is relatively frequent in the Baltic region, especially Finland. (From Menkes, Textbook of Child Neurology, 5th ed, pp109-110)
Synonyms:exact_synonym: Baltic Myoclonus Epilepsy;   Baltic myoclonic epilepsies;   Baltic myoclonic epilepsy;   Baltic myoclonus;   Baltic myoclonus epilepsies;   EPM1;   Epilepsy, Progressive Myoclonic 1;   Epilepsy, Progressive Myoclonic Type 1;   Mediterranean Myoclonic Epilepsy;   Myoclonic Epilepsy of Unverricht and Lundborg;   Myoclonus Progressive Epilepsy of Unverricht and Lundborg;   ULD;   Unverricht Lundborg disease;   Unverricht disease;   Unverricht diseases;   Unverricht's disease;   progressive myoclonus epilepsy 1
 primary_id: MESH:D020194
 alt_id: OMIM:254800
 xref: GARD:3876
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 ClinVar Annotator: match by OMIM:254800
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Unverricht-Lundborg syndrome		 ClinVar
CTD
OMIM		 PMID:7543407 PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:11814737 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17003839 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22154554 PMID:22936898 PMID:23205931 PMID:25288807 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:32581362 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432 		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 chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432 		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: Progressive myoclonus epilepsy with ataxia
ClinVar Annotator: match by OMIM:612437		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 PMID:21276947 PMID:21901791 PMID:24689077 PMID:25741868 PMID:26378787 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29790814 PMID:30564977 PMID:31035234 PMID:32214227 NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia ClinVar PMID:25741868 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          Nervous System Heredodegenerative Disorders 1977
            Unverricht-Lundborg syndrome 3
              progressive myoclonus epilepsy 1A 1
              progressive myoclonus epilepsy 1B 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            movement disease 1237
              Dyskinesias 905
                Myoclonus 123
                  Myoclonic Epilepsies 118
                    progressive myoclonus epilepsy 70
                      Unverricht-Lundborg syndrome 3
                        progressive myoclonus epilepsy 1A 1
                        progressive myoclonus epilepsy 1B 2
paths to the root