Experimental Factor Ontology

Last uploaded: September 16, 2024
Preferred Name

myoclonic-astatic epilepsy
Synonyms

myoclonic astatic epilepsy

epilepsy with myoclono-astatic crisis

mae

Doose syndrome

myoclonic atonic epilepsy

epilepsy with myoclonic-atonic seizures

myoclonic-astatic epilepsy in early childhood

epilepsy with myoclonic-astatic seizures

EMAS

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

Orphanet:1942

icd11.foundation:951920505

SCTID:230421008

ICD9:345.10

NANDO:1200590

MEDGEN:98284

UMLS:C0393702

GARD:2169

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://linkedlifedata.com/resource/umls/id/C0393702

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

http://identifiers.org/medgen/98284

http://identifiers.org/snomedct/230421008

has_exact_synonym

Doose syndrome

myoclonic atonic epilepsy

epilepsy with myoclonic-atonic seizures

myoclonic-astatic epilepsy in early childhood

epilepsy with myoclonic-astatic seizures

EMAS

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_disorder

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

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

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

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

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

label

myoclonic-astatic epilepsy

notation

MONDO:0016025

preferred label

myoclonic-astatic epilepsy

prefLabel

myoclonic-astatic epilepsy

see also

https://www.epilepsydiagnosis.org/syndrome/mei-overview.html

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

subClassOf

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

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

http://purl.obolibrary.org/obo/MONDO_0100545

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

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