Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Early myoclonic encephalopathy
Synonyms

Early myoclonic encephalopathy with suppression-bursts
ID

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

Before age 5
ageOfOnset

Neonatal/infancy
altLabel

Early myoclonic encephalopathy with 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

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_890
prefLabel

Early myoclonic encephalopathy
prevalence

<1 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Delete Mapping To Ontology Source
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://nanbyodata.jp/ontology/NANDO_1200594 NANDO 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 DOID 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 DDSS 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 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0016022 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0016022 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0016022 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0016022 DOVES LOOM
http://purl.bioontology.org/ontology/SNMI/DA-31570 SNMI LOOM