Medical Imaging and Diagnostic Ontology

Last uploaded: April 25, 2022
Preferred Name

progressive myoclonus epilepsy

Synonyms

progressive myoclonic epilepsy

progressive Myoclonus epilepsy

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.

ID

http://purl.obolibrary.org/obo/DOID_891

comment

OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS].

database_cross_reference

MESH:D020191

NCI:C7636

GARD:7140

UMLS_CUI:C0751778

OMIM:310370

SNOMEDCT_US_2021_09_01:192844008

OMIM:PS254800

definition

A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death.

has exact match

NCI:C7636

has_exact_synonym

progressive myoclonic epilepsy

PME

progressive Myoclonus epilepsy

has_obo_namespace

disease_ontology

IAO_0000115

A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death.

id

DOID:891

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

progressive myoclonus epilepsy

notation

DOID:891

prefLabel

progressive myoclonus epilepsy

subClassOf

http://purl.obolibrary.org/obo/DOID_0050706

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