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progressive myoclonus epilepsy

Go to external page 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 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:891 (MONDO:equivalentTo)
  • NCIT:C7636 (MONDO:equivalentTo)
  • UMLS:C0751778 (Orphanet:98261/e)
  • Orphanet:98261 (MONDO:equivalentTo)
  • MESH:D020191 (Orphanet:98261/e)
  • SCTID:267581004 (MONDO:equivalentTo)
  • NORD:1617 (MONDO:NORD)
  • OMIMPS:254800 (MONDO:equivalentTo)
  • GARD:7140 (Orphanet:98261)
Subsets

gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, clingen, ordo_group_of_disorders

exactMatch

https://omim.org/phenotypicSeries/PS254800

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

http://identifiers.org/mesh/D020191

has related synonym

familial progressive myoclonic epilepsy

id

MONDO:0020074

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0020074