JSON

progressive myoclonus epilepsy

^ http://purl.obolibrary.org/obo/MONDO_0020074

A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system. [ NCIT:C7636 ]

Term info

database cross reference
  • OMIMPS:254800 (MONDO:equivalentTo)
  • NCIT:C7636 (MONDO:equivalentTo)
  • DOID:891 (MONDO:equivalentTo)
  • SCTID:267581004 (MONDO:equivalentTo)
  • GARD:0007140 (MONDO:equivalentTo)
  • Orphanet:98261 (MONDO:equivalentTo)
  • MESH:D020191 (Orphanet:98261/e)
  • UMLS:C0751778 (Orphanet:98261/e)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
PME [ DOID:891 Orphanet:98261 ]

definition

A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.

exactMatch

https://omim.org/phenotypicSeries/PS254800, http://identifiers.org/snomedct/267581004, http://purl.obolibrary.org/obo/NCIT_C7636, http://purl.obolibrary.org/obo/DOID_891, http://purl.obolibrary.org/obo/Orphanet_98261, http://linkedlifedata.com/resource/umls/id/C0751778, http://identifiers.org/mesh/D020191

has exact synonym

epilepsy, progressive myoclonic, progressive myoclonic epilepsy (disorder) [ambiguous], progressive myoclonic epilepsy, PME, progressive myoclonus epilepsy

has related synonym

familial progressive myoclonic epilepsy

id

MONDO:0020074