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Term:progressive myoclonus epilepsy 3
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Accession:DOID:0111446 term browser browse the term
Definition:A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in KCTD7 on chromosome 7q11.21. (DO)
Synonyms:exact_synonym: CEROID LIPOFUSCINOSIS, NEURONAL, 14;   CLN14;   CLN14 disease;   EPM3;   Epilepsy, Progressive Myoclonic, 3, with or without Intracellular Inclusions;   PME type 3;   Progressive Myoclonic Epilepsy 3;   Progressive myoclonic epilepsy due to KCTD7 deficiency;   Progressive myoclonus epilepsy type 3
 primary_id: MESH:C567095
 alt_id: DOID:9003754;   OMIM:611726;   RDO:0009558;   RDO:0015267
 xref: GARD:2167;   ORDO:263516
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progressive myoclonus epilepsy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin JBrowse link 1 197,986,384 197,999,726 RGD:8554872
G Kctd7 potassium channel tetramerization domain containing 7 JBrowse link 12 30,024,080 30,033,357 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    syndrome 5228
      electroclinical syndrome 337
        variable age at onset electroclinical syndrome 62
          progressive myoclonus epilepsy 57
            progressive myoclonus epilepsy 3 2
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      nervous system disease 10147
        central nervous system disease 8254
          brain disease 7600
            movement disease 1007
              Dyskinesias 713
                Myoclonus 93
                  Myoclonic Epilepsies 89
                    progressive myoclonus epilepsy 57
                      progressive myoclonus epilepsy 3 2
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