BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

progressive myoclonus epilepsy
Synonyms

progressive myoclonic epilepsy

PME

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].

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

MESH:D020191

SNOMEDCT_US_2020_03_01:192844008

OMIM:PS254800

GARD:7140

NCI:C7636

has exact match

NCI:C7636

has exact synonym

progressive myoclonic epilepsy

PME

progressive Myoclonus epilepsy

has_obo_namespace

disease_ontology

id

DOID:891

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

progressive myoclonus epilepsy

notation

DOID:891

prefLabel

progressive myoclonus epilepsy

textual definition

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

subClassOf

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

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_891 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_891 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_891 EPIO SAME_URI
http://purl.obolibrary.org/obo/DOID_891 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_891 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_891 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_891 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_891 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0020074 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200953 NANDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7636 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Progressive_Myoclonus_Epilepsy CSEO LOOM
http://purl.obolibrary.org/obo/MONDO_0020074 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0020074 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0020074 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0020074 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0020074 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0020074 KTAO LOOM
http://nanbyodata.jp/ontology/NANDO_2100237 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_891 DOID LOOM
http://purl.obolibrary.org/obo/DOID_891 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_891 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_891 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_891 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_891 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_891 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C7636 BERO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0751778 OCHV LOOM