Preferred Name

Myoclonic-astatic epilepsy

ID

http://www.orpha.net/ORDO/Orphanet_1942

alternative_term

EMAS

Epilepsy with myoclonic-atonic seizures

Myoclonic atonic epilepsy

MAE

Doose syndrome

Myoclonic-astatic epilepsy in early childhood

Epilepsy with myoclonic-astatic seizures

definition

A rare, childhood onset epilepsy syndrome characterized by multiple seizure types including myoclonic-atonic (MA) seizures that occur usually in previously healthy children.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1942

has_age_of_onset

Childhood

has_inheritance

Unknown

hasDbXref

OMIM:618587

ICD-11:8A61.22

UMLS:C0393702

ICD-10:G40.4

OMIM:615369

OMIM:616421

label

Myoclonic-astatic epilepsy

notation

ORPHA:1942

part_of

http://www.orpha.net/ORDO/Orphanet_98259

http://www.orpha.net/ORDO/Orphanet_611314

prefixIRI

ORDO:Orphanet_1942

prefLabel

Myoclonic-astatic epilepsy

present_in

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_98259

http://www.orpha.net/ORDO/Orphanet_611314

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0016025 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0016025 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU033553 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://www.orpha.net/ORDO/Orphanet_1942 Experimental Factor Ontology / 实验性因素本体 SAME_URI