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 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0020074 |
|
| database_cross_reference |
OMIMPS:254800 MEDGEN:199732 DOID:891 MESH:D020191 Orphanet:98261 UMLS:C0751778 GARD:7140 NORD:1617 icd11.foundation:173613583 SCTID:267581004 NCIT:C7636 NANDO:1200953 NANDO:2100237 |
|
| 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. |
|
| 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/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| 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 |
|
| skos_exactMatch |
http://identifiers.org/snomedct/267581004 http://purl.obolibrary.org/obo/DOID_891 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/173613583 http://purl.obolibrary.org/obo/NCIT_C7636 http://linkedlifedata.com/resource/umls/id/C0751778 http://identifiers.org/mesh/D020191 http://purl.obolibrary.org/obo/Orphanet_98261 |
|
| 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 |