loading...| Preferred Name | Unverricht-Lundborg syndrome | |
| Synonyms |
Uld epilepsy, progressive myoclonic, 1 progressive myoclonic epilepsy epilepsy, progressive myoclonic type 1 EPM1 Baltic myoclonic epilepsy epilepsy, progressive myoclonic, 1A myoclonus progressive epilepsy of Unverricht and Lundborg progressive myoclonus epilepsy Baltic myoclonic epilepsy epilepsy, progressive myoclonus 1 myoclonic epilepsy of Unverricht and Lundborg Unverricht-Lundborg disease epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) ULD progressive myoclonic epilepsy type 1 Unverricht - Lundborg disease progressive myoclonus epilepsy type 1 Unverricht's disease PME type 1 Unverricht-Lundborg syndrome |
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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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009698 |
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| closeMatch | ||
| database_cross_reference |
DOID:3535 Orphanet:308 MedDRA:10054895 UMLS:C0751785 GARD:3876 DOID:0111452 OMIM:254800 SCTID:230423006 MESH:D020194 |
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| 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. |
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| 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 |
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| has material basis in germline mutation in | ||
| has_exact_synonym |
Unverricht-Lundborg disease epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) ULD progressive myoclonic epilepsy type 1 Unverricht - Lundborg disease progressive myoclonus epilepsy type 1 Unverricht's disease PME type 1 Unverricht-Lundborg syndrome |
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| has_related_synonym |
Uld epilepsy, progressive myoclonic, 1 progressive myoclonic epilepsy epilepsy, progressive myoclonic type 1 EPM1 Baltic myoclonic epilepsy epilepsy, progressive myoclonic, 1A myoclonus progressive epilepsy of Unverricht and Lundborg progressive myoclonus epilepsy Baltic myoclonic epilepsy epilepsy, progressive myoclonus 1 myoclonic epilepsy of Unverricht and Lundborg |
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| IAO_0000233 | ||
| id |
MONDO:0009698 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
|
| label |
Unverricht-Lundborg syndrome |
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| notation |
MONDO:0009698 |
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| prefLabel |
Unverricht-Lundborg syndrome |
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| treeView | ||
| subClassOf |