Preferred Name

Early myoclonic encephalopathy

Synonyms

Early myoclonic encephalopathy with suppression-bursts

ID

http://www.limics.org/hrdo/rdfns#pat_id_890

ageOfDeath

Prima dei 5 anni

Antes de los 5 años

Avant 5 ans

Vor dem Alter von 5 Jahren

Antes dos 5 anos de idade

Before age 5

Before age 5

ageOfOnset

Neonatal/infancy

Neonatale/prima infanzia

Neonatal/infância

Neonatal/infancy

Neonatal / infancia

Néonatal/petite enfance

Neonatal/Kleinkindalter

altLabel

Early myoclonic encephalopathy with suppression-bursts

Frühkindliche myoklonische Enzephalopathie mit Suppression-burst

Encefalopatia mioclonica precoce con appiattimento elettrico cerebrale

Encéphalopathie myoclonique précoce avec "suppression-bursts"

id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28early%5Bti%5D+OR+neonatal%5Bti%5D+OR+infantile%5Bti%5D+OR+Precocious%5Bti%5D%29+AND+myoclonic+encephalopath*%5Btw%5D

id_MIM

609304

id_OMS

G40.3

id_Orpha

1935

id_SNOMEDCT

44423001

id_UMLS

C0270855

inheritance

Autosómico recesivo

Autosomal recessive

Autossómica recessiva

Autosomica recessiva

Autosomal recessive

Autosomique récessif

Autosomal-rezessiv

patType

disease

prefixIRI

hrdo:pat_id_890

prefLabel

Encéphalopathie myoclonique précoce

Encefalopatía mioclónica temprana

Early myoclonic encephalopathy

Enzephalopathie, frühkindliche myoklonische

Encefalopatia mioclónica precoce

Encefalopatia mioclonica precoce

prevalence

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11

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Delete Mapping To Ontology Source
http://nanbyodata.jp/ontology/NANDO_1200594 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_308 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0016022 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0016022 MONDO LOOM
http://www.orpha.net/ORDO/Orphanet_1935 ORDO LOOM
http://purl.bioontology.org/ontology/RCD/X006d RCD LOOM
http://www.semanticweb.org/ontologies/2009/3/EpilepsyOntology.owl#Early_myoclonic_encephalopathy EPILONT LOOM
http://www.semanticweb.org/ontologies/2009/3/EpilepsyOntology.owl#Early_myoclonic_encephalopathy MEPO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/44423001 SNOMEDCT LOOM
http://www.owl-ontologies.com/NPOntology.owl#early_myoclonic_encephalopathy NATPRO LOOM
http://www.case.edu/EpilepsyOntology.owl#EarlyMyoclonicEncephalopathy EPSO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116593 NCIT LOOM
http://www.limics.fr/ontologies/ontolurgences#EncephalopathieMyocloniquePrecoceSymptomatique ONTOLURGENCES LOOM
http://purl.obolibrary.org/obo/DOID_308 DTO LOOM
http://purl.obolibrary.org/obo/DOID_308 BAO LOOM
http://purl.obolibrary.org/obo/DOID_308 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_308 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_308 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_308 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_308 FNS-H LOOM
http://www.semanticweb.org/administrator/ontologies/2022/0/untitled-ontology-34#OWLClass92b218a0_0d28_44d1_b594_47bb4aca01f9 WWECA LOOM
http://purl.obolibrary.org/obo/NCIT_C116593 BERO LOOM
http://purl.obolibrary.org/obo/MONDO_0016022 DOVES LOOM
http://purl.bioontology.org/ontology/SNMI/DA-31570 SNMI LOOM