loading...| Preferred Name | Lafora disease | |
| Synonyms |
epilepsy progressive myoclonic 2 Lafora body disease Epm2 Melf Lafora body disorder epilepsy, progressive myoclonic, 2B epilepsy, progressive myoclonic, 2A Lafora progressive myoclonic epilepsy progressive myoclonus epilepsy type 2 epilepsy, progressive myoclonic 2A (Lafora) progressive myoclonic epilepsy type 2 epilepsy, progressive myoclonic 2B (Lafora) EPM2 myoclonic epilepsy of Lafora Lafora disease PME type 2 Lafora's disease |
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| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009697 |
|
| altLabel |
epilepsy progressive myoclonic 2 Lafora body disease Epm2 Melf Lafora body disorder epilepsy, progressive myoclonic, 2B epilepsy, progressive myoclonic, 2A Lafora progressive myoclonic epilepsy progressive myoclonus epilepsy type 2 epilepsy, progressive myoclonic 2A (Lafora) progressive myoclonic epilepsy type 2 epilepsy, progressive myoclonic 2B (Lafora) EPM2 myoclonic epilepsy of Lafora Lafora disease PME type 2 Lafora's disease |
|
| definition |
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. |
|
| has_exact_synonym |
Lafora progressive myoclonic epilepsy progressive myoclonus epilepsy type 2 epilepsy, progressive myoclonic 2A (Lafora) progressive myoclonic epilepsy type 2 epilepsy, progressive myoclonic 2B (Lafora) EPM2 myoclonic epilepsy of Lafora Lafora disease PME type 2 Lafora's disease |
|
| has_related_synonym |
epilepsy progressive myoclonic 2 Lafora body disease Epm2 Melf Lafora body disorder epilepsy, progressive myoclonic, 2B epilepsy, progressive myoclonic, 2A |
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| IAO_0000233 | ||
| label |
Lafora disease |
|
| prefixIRI |
MONDO:0009697 |
|
| prefLabel |
Lafora disease |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/8214/lafora-disease |
|
| textual definition |
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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0005395 |