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progressive myoclonus epilepsy - Ontology Report - Rat Genome Database

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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
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Accession:DOID:891 term browser browse the term
Definition:A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death. (DO)
Synonyms:exact_synonym: Biotin Responsive Encephalopathy;   Biotin-Responsive Encephalopathies;   Familial Progressive Myoclonic Epilepsy;   May White syndrome;   NOD;   PME;   atypical inclusion body disease;   atypical inclusion-body diseases;   progressive myoclonic epilepsies;   progressive myoclonic epilepsy;   progressive myoclonus epilepsies
 narrow_synonym: neuronal ceroid-lipofuscinosis, dominant/recessive;   neuronal ceroid-lipofuscinosis, recessive;   progressive myoclonic epilepsy, X-linked
 primary_id: MESH:D020191
 alt_id: MIM:310370
 xref: EFO:0020039;   GARD:7140;   MIM:PS254800;   NCI:C7636
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    • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 288179
        syndrome 133013
          electroclinical syndrome 15195
            variable age at onset electroclinical syndrome 2139
              progressive myoclonus epilepsy 2098
                Amyotrophic Lateral Sclerosis with Polyglucosan Bodies 0
                Lafora disease + 32
                MERRF Syndrome + 48
                Progressive Myoclonic Epilepsy 2B 10
                Progressive Myoclonus Epilepsy 11 10
                Progressive Myoclonus Epilepsy 12 20
                Unverricht-Lundborg syndrome + 40
                dentatorubral-pallidoluysian atrophy 11
                progressive myoclonus epilepsy 10 23
                progressive myoclonus epilepsy 3 22
                progressive myoclonus epilepsy 4 31
                progressive myoclonus epilepsy 5 53
                progressive myoclonus epilepsy 6 13
                progressive myoclonus epilepsy 7 228
                progressive myoclonus epilepsy 8 146
                progressive myoclonus epilepsy 9 474
                spinal muscular atrophy with progressive myoclonic epilepsy 13
    Path 2
    Term Annotations click to browse term
      disease 288179
        disease of anatomical entity 271815
          nervous system disease 190640
            central nervous system disease 157774
              brain disease 148547
                movement disease 27194
                  Dyskinesias 22111
                    Myoclonus 4134
                      Myoclonic Epilepsies 4073
                        progressive myoclonus epilepsy 2098
                          Amyotrophic Lateral Sclerosis with Polyglucosan Bodies 0
                          Lafora disease + 32
                          MERRF Syndrome + 48
                          Progressive Myoclonic Epilepsy 2B 10
                          Progressive Myoclonus Epilepsy 11 10
                          Progressive Myoclonus Epilepsy 12 20
                          Unverricht-Lundborg syndrome + 40
                          dentatorubral-pallidoluysian atrophy 11
                          progressive myoclonus epilepsy 10 23
                          progressive myoclonus epilepsy 3 22
                          progressive myoclonus epilepsy 4 31
                          progressive myoclonus epilepsy 5 53
                          progressive myoclonus epilepsy 6 13
                          progressive myoclonus epilepsy 7 228
                          progressive myoclonus epilepsy 8 146
                          progressive myoclonus epilepsy 9 474
                          spinal muscular atrophy with progressive myoclonic epilepsy 13
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