Mondo Disease Ontology

Last uploaded: May 9, 2024

Preferred Name	myoclonic-atonic epilepsy
Synonyms	mae myoclonic-atonic epilepsy Myoclonic Atonic Epilepsy
ID	http://purl.obolibrary.org/obo/MONDO_0014633
database_cross_reference	GARD:16108 UMLS:C4085238 OMIM:616421 DOID:0060475 NORD:2035
exactMatch	http://linkedlifedata.com/resource/umls/id/C4085238 http://purl.obolibrary.org/obo/DOID_0060475 https://omim.org/entry/616421
has material basis in germline mutation in	http://identifiers.org/hgnc/11042
has_exact_synonym	myoclonic-atonic epilepsy Myoclonic Atonic Epilepsy
has_related_synonym	mae
id	MONDO:0014633
in_subset	http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#gard_rare
label	myoclonic-atonic epilepsy
notation	MONDO:0014633
prefLabel	myoclonic-atonic epilepsy
treeView	http://purl.obolibrary.org/obo/MONDO_0016025
subClassOf	http://purl.obolibrary.org/obo/MONDO_0016025

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0014633	EPIO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0014633	DOVES	SAME_URI
http://purl.bioontology.org/ontology/OMIM/MTHU072333	OMIM	LOOM
http://purl.obolibrary.org/obo/NCIT_C165674	BERO	LOOM
http://purl.bioontology.org/ontology/OMIM/616421	OMIM	LOOM
http://purl.obolibrary.org/obo/DOID_0060475	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0060475	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0060475	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0060475	NIFSTD	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Myoclonic_Atonic_Epilepsy	ESSO	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Myoclonic_Atonic_Epilepsy	MEPO	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Myoclonic_Atonic_Epilepsy	EPISEM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165674	NCIT	LOOM
http://purl.obolibrary.org/obo/MONDO_0014633	EPIO	LOOM
http://purl.obolibrary.org/obo/MONDO_0014633	DOVES	LOOM