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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: Progressive myoclonus epilepsy with ataxia
ClinVar Annotator: match by OMIM:612437
ClinVar
OMIM
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: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 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          Nervous System Heredodegenerative Disorders 1952
            Unverricht-Lundborg syndrome 3
              progressive myoclonus epilepsy 1B 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            movement disease 1163
              Dyskinesias 870
                Myoclonus 89
                  Myoclonic Epilepsies 81
                    progressive myoclonus epilepsy 48
                      Unverricht-Lundborg syndrome 3
                        progressive myoclonus epilepsy 1B 2
paths to the root