loading...| Preferred Name |
progressive myoclonus epilepsy |
|
| Synonyms |
progressive myoclonic epilepsy (disorder) [ambiguous] PME progressive myoclonic epilepsy epilepsy, progressive myoclonic progressive myoclonus epilepsy familial progressive myoclonic 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 |
|
| database_cross_reference |
OMIMPS:254800 DOID:891 MESH:D020191 Orphanet:98261 UMLS:C0751778 GARD:7140 NORD:1617 icd11.foundation:173613583 SCTID:267581004 NCIT:C7636 |
|
| 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. |
|
| exactMatch |
http://identifiers.org/snomedct/267581004 http://purl.obolibrary.org/obo/DOID_891 http://purl.obolibrary.org/obo/NCIT_C7636 http://linkedlifedata.com/resource/umls/id/C0751778 http://identifiers.org/mesh/D020191 |
|
| 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 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
progressive myoclonus epilepsy |
|
| notation |
MONDO:0020074 |
|
| prefLabel |
progressive myoclonus epilepsy |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0020072 http://purl.obolibrary.org/obo/MONDO_0020073 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020072 http://purl.obolibrary.org/obo/MONDO_0020073 |