loading...| Preferred Name |
progressive myoclonus epilepsy |
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| Synonyms |
progressive myoclonic epilepsy progressive Myoclonus epilepsy PME |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS]. A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death. |
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| ID |
http://purl.obolibrary.org/obo/DOID_891 |
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| comment |
OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS]. |
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| database_cross_reference |
OMIM:310370 UMLS_CUI:C0751778 NCI2004_11_17:C7636 SNOMEDCT_US_2018_03_01:89480000 MESH:D020191 OMIM:PS254800 GARD:7140 NCI:C7636 |
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| fromEPILONT |
true |
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| fromILAE |
true |
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| has exact synonym |
progressive myoclonic epilepsy progressive Myoclonus epilepsy PME |
|
| has_obo_namespace |
disease_ontology |
|
| hasDefinition |
Progressive myoclonus epilepsy should considered in a patient with myoclonic seizures, with or without generalized tonic-clonic seizures in the following settings: Progressive cognitive decline , Myoclonus resulting in progressive motor impairment, Cerebellar signs , Background slowing on EEG (particularly if increasing over time), Myoclonus that is refractory to trials of appropriate anti-seizure medication |
|
| id |
DOID:891 |
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| imported from | ||
| in subset | ||
| label |
progressive myoclonus epilepsy |
|
| notation |
DOID:891 |
|
| prefLabel |
progressive myoclonus epilepsy |
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| 文本定义 |
A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death. |
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| subClassOf |