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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:progressive myoclonus epilepsy 1B
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Accession:DOID:0111448 term browser browse the term
Definition:An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in PRICKLE1 on chromosome 12q12. (DO)
Synonyms:exact_synonym: Epm1b;   PRICKLE1-related progressive myoclonic epilepsy with ataxia;   PRICKLE1-related progressive myoclonus epilepsy with ataxia;   Pme with Ataxia;   Progressive Myoclonic Epilepsy 1b;   Progressive Myoclonus Epilepsy with Ataxia
 primary_id: MESH:C580388
 alt_id: OMIM:612437
For additional species annotation, visit the Alliance of Genome Resources.



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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 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          Nervous System Heredodegenerative Disorders 2394
            Unverricht-Lundborg syndrome 3
              progressive myoclonus epilepsy 1B 2
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
                      Unverricht-Lundborg syndrome 3
                        progressive myoclonus epilepsy 1B 2
paths to the root