Preferred Name

myoclonic-astatic epilepsy

Synonyms

EMAS

myoclonic-astatic epilepsy in early childhood

Doose syndrome

myoclonic astatic epilepsy

epilepsy with myoclonic-astatic seizures

myoclonic atonic epilepsy

epilepsy with myoclono-astatic crisis

epilepsy with myoclonic-atonic seizures

mae

Definitions

Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.

ID

http://purl.obolibrary.org/obo/MONDO_0016025

database_cross_reference

GARD:0002169

Orphanet:1942

SCTID:230421008

ICD9:345.10

definition

Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.

exactMatch

http://identifiers.org/snomedct/230421008

http://purl.obolibrary.org/obo/Orphanet_1942

has_exact_synonym

EMAS

myoclonic-astatic epilepsy in early childhood

Doose syndrome

epilepsy with myoclonic-astatic seizures

myoclonic atonic epilepsy

epilepsy with myoclonic-atonic seizures

has_related_synonym

myoclonic astatic epilepsy

epilepsy with myoclono-astatic crisis

mae

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4985

id

MONDO:0016025

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

http://purl.obolibrary.org/obo/mondo#gard_rare

label

myoclonic-astatic epilepsy

notation

MONDO:0016025

prefLabel

myoclonic-astatic epilepsy

seeAlso

https://rarediseases.info.nih.gov/diseases/2169/myoclonic-astatic-epilepsy

treeView

http://purl.obolibrary.org/obo/MONDO_0020072

http://purl.obolibrary.org/obo/MONDO_0002254

http://purl.obolibrary.org/obo/MONDO_0015653

http://purl.obolibrary.org/obo/MONDO_0019216

subClassOf

http://purl.obolibrary.org/obo/MONDO_0020072

http://purl.obolibrary.org/obo/MONDO_0002254

http://purl.obolibrary.org/obo/MONDO_0015653

http://purl.obolibrary.org/obo/MONDO_0019216

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0016025 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0016025 Experimental Factor Ontology / 实验性因素本体 SAME_URI
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 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM