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Medical Imaging and Diagnostic Ontology
Last uploaded:
April 25, 2022
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| Id | http://purl.obolibrary.org/obo/DOID_891
http://purl.obolibrary.org/obo/DOID_891
|
|---|---|
| Preferred Name | progressive myoclonus epilepsy |
| Definitions |
A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death.
OMIM mapping confirmed by DO. [SN].
OMIM mapping submitted by NeuroDevNet. [LS].
|
| Synonyms |
progressive myoclonic epilepsy
PME
progressive Myoclonus epilepsy
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death. OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS]. |
|---|---|
| label |
progressive myoclonus epilepsy
|
| comment |
OMIM mapping confirmed by DO. [SN].
OMIM mapping submitted by NeuroDevNet. [LS].
|
| prefLabel |
progressive myoclonus epilepsy
|
| has exact match |
NCI:C7636
|
| database_cross_reference |
MESH:D020191
NCI:C7636
GARD:7140
UMLS_CUI:C0751778
OMIM:310370
SNOMEDCT_US_2021_09_01:192844008
OMIM:PS254800
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|
| notation |
DOID:891
|
| in_subset | |
| id |
DOID:891
|
| note |
A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death.
OMIM mapping confirmed by DO. [SN].
OMIM mapping submitted by NeuroDevNet. [LS].
|
| has_obo_namespace |
disease_ontology
|
| subClassOf | |
| IAO_0000115 |
A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death.
|
| type | |
| has_exact_synonym |
progressive myoclonic epilepsy
PME
progressive Myoclonus epilepsy
|
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