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 ]

This is just here as a test because I lose it

Term information

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

ordo_group_of_disorders

abbreviation
PME [ Orphanet:98261 DOID:891 ]

closeMatch

http://identifiers.org/snomedct/89480000

http://identifiers.org/snomedct/192844008

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

http://www.orpha.net/ORDO/Orphanet_98261

http://identifiers.org/snomedct/267581004

http://purl.obolibrary.org/obo/NCIT_C7636

http://purl.obolibrary.org/obo/DOID_891

http://identifiers.org/mesh/D020191

http://linkedlifedata.com/resource/umls/id/C0751778

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

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml