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Unverricht-Lundborg syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0009698

Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time. [ Orphanet:308 ]

Synonyms: Unverricht-Lundborg syndrome Unverricht-Lundborg disease PME type 1 Unverricht's disease progressive myoclonus epilepsy type 1 Unverricht - Lundborg disease ULD epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) progressive myoclonic epilepsy type 1

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D020194 (Orphanet:308/e)
  • UMLS:C0751785 (Orphanet:308/e)
  • Orphanet:308 (OMIM:254800)
  • DOID:3535 (MONDO:equivalentTo)
  • MedDRA:10054895 (Orphanet:308/e)
  • SCTID:230423006 (MONDO:equivalentTo)
  • DOID:0111452 (MONDO:equivalentTo)
  • GARD:3876 (Orphanet:308)
  • OMIM:254800 (Orphanet:308/e)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

closeMatch

http://identifiers.org/meddra/10054895

exactMatch

http://identifiers.org/mesh/D020194

http://purl.obolibrary.org/obo/DOID_3535

http://identifiers.org/snomedct/230423006

http://purl.obolibrary.org/obo/DOID_0111452

http://www.orpha.net/ORDO/Orphanet_308

https://omim.org/entry/254800

http://linkedlifedata.com/resource/umls/id/C0751785

has related synonym

epilepsy, progressive myoclonic type 1

myoclonus progressive epilepsy of Unverricht and Lundborg

epilepsy, progressive myoclonic, 1

myoclonic epilepsy of Unverricht and Lundborg

progressive myoclonus epilepsy Baltic myoclonic epilepsy

progressive myoclonic epilepsy

Uld

epilepsy, progressive myoclonus 1

epilepsy, progressive myoclonic, 1A

Baltic myoclonic epilepsy

EPM1

id

MONDO:0009698

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009698