Preferred Name

progressive myoclonus epilepsy

Synonyms

progressive myoclonic epilepsy

PME

Definitions

OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS]. A variable age at onset electroclinical syndrome characterized 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

OMIM:310370

UMLS_CUI:C0751778

SNOMEDCT_US_2023_03_01:192844008

MESH:D020191

OMIM:PS254800

GARD:7140

NCI:C7636

definition

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

equivalentClass

http://uri.neuinfo.org/nif/nifstd/birnlex_12722

has exact match

NCI:C7636

has exact synonym

progressive myoclonic epilepsy

PME

has_obo_namespace

disease_ontology

id

DOID:891

in_subset

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

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

label

progressive myoclonus epilepsy

notation

DOID:891

prefLabel

progressive myoclonus epilepsy

subClassOf

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

http://uri.neuinfo.org/nif/nifstd/birnlex_12719

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