loading...| Preferred Name | progressive myoclonus epilepsy | |
| Synonyms |
familial progressive myoclonic epilepsy progressive myoclonic epilepsy (disorder) [ambiguous] PME progressive myoclonic epilepsy epilepsy, progressive myoclonic progressive myoclonus epilepsy |
|
| Definitions |
A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0020074 |
|
| closeMatch | ||
| database_cross_reference |
OMIMPS:254800 DOID:891 MESH:D020191 Orphanet:98261 UMLS:C0751778 SCTID:267581004 GARD:0007140 NCIT:C7636 |
|
| exactMatch |
http://identifiers.org/snomedct/267581004 http://purl.obolibrary.org/obo/DOID_891 http://www.orpha.net/ORDO/Orphanet_98261 http://purl.obolibrary.org/obo/NCIT_C7636 |
|
| has exact synonym |
progressive myoclonic epilepsy (disorder) [ambiguous] PME progressive myoclonic epilepsy epilepsy, progressive myoclonic progressive myoclonus epilepsy |
|
| has related synonym |
familial progressive myoclonic epilepsy |
|
| id |
MONDO:0020074 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
progressive myoclonus epilepsy |
|
| notation |
MONDO:0020074 |
|
| prefLabel |
progressive myoclonus epilepsy |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| textual definition |
A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020072 http://purl.obolibrary.org/obo/MONDO_0020073 |