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Lafora disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0009697

Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline. [ Orphanet:501 ]

Synonyms: EPM2 Lafora progressive myoclonic epilepsy Lafora's disease PME type 2 myoclonic epilepsy of Lafora epilepsy, progressive myoclonic 2B (Lafora) progressive myoclonus epilepsy type 2 epilepsy, progressive myoclonic 2A (Lafora) progressive myoclonic epilepsy type 2 Lafora disease

This is just here as a test because I lose it

Term information

database cross reference
  • MedDRA:10054030 (Orphanet:501/e)
  • Orphanet:501 (OMIM:254780)
  • UMLS:C0751783 (Orphanet:501/e)
  • DOID:3534 (MONDO:equivalentTo)
  • MESH:D020192 (Orphanet:501/e)
  • GARD:8214 (Orphanet:501)
  • SCTID:230425004 (MONDO:equivalentTo)
  • OMIMPS:254780 (MONDO:equivalentTo)
  • NORD:143373 (MONDO:NORD)
  • NCIT:C84804 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

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

closeMatch

http://identifiers.org/meddra/10054030

exactMatch

http://purl.obolibrary.org/obo/NCIT_C84804

http://purl.obolibrary.org/obo/DOID_3534

http://linkedlifedata.com/resource/umls/id/C0751783

http://www.orpha.net/ORDO/Orphanet_501

http://identifiers.org/snomedct/230425004

https://omim.org/phenotypicSeries/PS254780

http://identifiers.org/mesh/D020192

has related synonym

Lafora body disease

epilepsy progressive myoclonic 2

Epm2

Lafora body disorder

Melf

epilepsy, progressive myoclonic, 2B

epilepsy, progressive myoclonic, 2A

id

MONDO:0009697

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009697

https://rarediseases.info.nih.gov/diseases/8214/lafora-disease