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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 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          Nervous System Heredodegenerative Disorders 1947
            Unverricht-Lundborg syndrome 3
              progressive myoclonus epilepsy 1B 2
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            movement disease 1156
              Dyskinesias 867
                Myoclonus 88
                  Myoclonic Epilepsies 81
                    progressive myoclonus epilepsy 48
                      Unverricht-Lundborg syndrome 3
                        progressive myoclonus epilepsy 1B 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.