loading...| Preferred Name | Unverricht-Lundborg syndrome | |
| Synonyms |
progressive myoclonus epilepsy Baltic myoclonic epilepsy epilepsy, progressive myoclonic type 1 Baltic myoclonic epilepsy epilepsy, progressive myoclonus 1 myoclonic epilepsy of Unverricht and Lundborg progressive myoclonic epilepsy myoclonus progressive epilepsy of Unverricht and Lundborg epilepsy, progressive myoclonic, 1 epilepsy, progressive myoclonic, 1A EPM1 Uld epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) progressive myoclonus epilepsy type 1 Unverricht-Lundborg disease Unverricht-Lundborg syndrome Unverricht's disease progressive myoclonic epilepsy type 1 Unverricht - Lundborg disease PME type 1 ULD |
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| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009698 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0009698 |
|
| database_cross_reference |
MedDRA:10054895 UMLS:C0751785 NANDO:1200954 DOID:0111452 MESH:D020194 NANDO:2200880 OMIM:254800 Orphanet:308 MEDGEN:155923 SCTID:230423006 DOID:3535 GARD:3876 |
|
| definition |
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. |
|
| has_exact_synonym |
epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) progressive myoclonus epilepsy type 1 Unverricht-Lundborg disease Unverricht-Lundborg syndrome Unverricht's disease progressive myoclonic epilepsy type 1 Unverricht - Lundborg disease PME type 1 ULD |
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| has_related_synonym |
progressive myoclonus epilepsy Baltic myoclonic epilepsy epilepsy, progressive myoclonic type 1 Baltic myoclonic epilepsy epilepsy, progressive myoclonus 1 myoclonic epilepsy of Unverricht and Lundborg progressive myoclonic epilepsy myoclonus progressive epilepsy of Unverricht and Lundborg epilepsy, progressive myoclonic, 1 epilepsy, progressive myoclonic, 1A EPM1 Uld |
|
| IAO_0000233 | ||
| id |
MONDO:0009698 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Unverricht-Lundborg syndrome |
|
| notation |
MONDO:0009698 |
|
| preferred label |
Unverricht-Lundborg syndrome |
|
| prefLabel |
Unverricht-Lundborg syndrome |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_3535 http://purl.obolibrary.org/obo/Orphanet_308 http://linkedlifedata.com/resource/umls/id/C0751785 http://identifiers.org/mesh/D020194 http://identifiers.org/medgen/155923 |
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| subClassOf |