About: myoclonic astatic epilepsy

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

generalised idiopathic epilepsy

Attributes	Values
rdf:type	Item
description	idiopathische generalisierte Epilepsie des Kindesalters (de) generalised idiopathic epilepsy (en)
exact match	wds:Q6947909-C58FD7F9-36B2-4806-A348-3A11BC8E315A
exact match	http://www.orpha.net/ORDO/Orphanet_1942
Mondo ID	wds:Q6947909-9C949479-33E7-45E9-9FE9-3BAF15E50F75
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0014633
Mondo ID	MONDO_0014633
rdfs:label	Doose-Syndrom (de) Zespół Doose (pl) myoclonic astatic epilepsy (en) épilepsie myoclono-astatique (fr) صرع میوکلونیک آستاتیک (fa) ドーゼ症候群 (ja)
skos:prefLabel	Doose-Syndrom (de) Zespół Doose (pl) myoclonic astatic epilepsy (en) épilepsie myoclono-astatique (fr) صرع میوکلونیک آستاتیک (fa) ドーゼ症候群 (ja)
name	Doose-Syndrom (de) Zespół Doose (pl) myoclonic astatic epilepsy (en) épilepsie myoclono-astatique (fr) صرع میوکلونیک آستاتیک (fa) ドーゼ症候群 (ja)
instance of	wds:Q6947909-4FBE0F4D-2CC0-432E-887A-A88250E6F2A3 wds:Q6947909-5861ADFF-618F-40E1-AF4D-4AE21916507D wds:Q6947909-D9DBDDB6-8183-45FB-9477-3C56D4085A98
instance of	rare disease disease designated intractable/rare disease
subclass of	wds:Q6947909-712009a8-4cf1-2e79-7435-b26856c9d24c
subclass of	Idiopathic generalized epilepsy
KEGG ID	wds:Q6947909-838DAD14-4C36-412B-9760-165D2B6B84E6 wds:Q6947909-DCE25DB3-9AAE-4AF0-94E1-FB797119110F
KEGG ID	http://www.kegg.jp/entry/H01823 http://www.kegg.jp/entry/H02361
KEGG ID	H01823 H02361
UniProt disease ID	wds:Q6947909-b3abe37a-461b-d4dd-9707-94161df45569
genetic association	wds:Q6947909-3DFFAAEE-5A96-4CAE-B1F5-46A0D853CAFC wds:Q6947909-47B9EAFB-F191-4FB2-ADF1-759706AF6FED
GARD rare disease ID	wds:Q6947909-1BB91E77-5B1B-43C9-9E6F-4BCAA42A2668
OMIM ID	wds:Q6947909-6becfb7f-42a9-57f9-ff97-b4de128fa4d7 wds:Q6947909-9183814f-44b5-6e9e-847a-cdfd2eef5481
UniProt disease ID	DI-04457
genetic association	CHD2 SLC6A1
GARD rare disease ID	2169
OMIM ID	615369 616421
named after	wds:Q6947909-86b1390b-4130-7cac-f8c7-1c3835476c78
named after	Hermann Doose
skos:altLabel	MAE (en) MAE (de) Myoclonic-astatic epilepsy (en) Doose syndrome (en) Epilepsy with myoclonic-atonic seizure (en) epilepsy with myoclonic-atonic seizures (en) myoclonic atonic epilepsy (en) myoclonic-astatic epilepsy in early childhood (en) myoclonic-atonic epilepsy (en) myoklonisch-astatische Epilepsie (de) syndrome de Doose (fr)
external data available at URL	wds:Q6947909-ADA8D27C-E78F-4284-8DCC-0DC3A37176EA
NCI Thesaurus ID	wds:Q6947909-2a1fe1be-4be5-6736-94a6-554412795561
UMLS CUI	wds:Q6947909-65EBEC9E-E6C6-4FC4-AB50-C4264ED0056A
WordLift URL	wds:Q6947909-41CB9D62-9014-494F-BB81-B0943991281F
Microsoft Academic ID	wds:Q6947909-25E294C7-694D-45ED-A69F-943FA53768DD wds:Q6947909-73147EF7-74B2-4F98-91D5-973DD0DA779A wds:Q6947909-8BB4857F-4CEB-44CF-BDEB-CAF3648799B0
ICD-11 ID (MMS)	wds:Q6947909-f66925d8-e405-441a-973c-b7e6d6ccfd41
ICD-11 (foundation)	wds:Q6947909-60c19e4a-4b8c-6aed-4540-673cac7c9c33
Microsoft Academic ID	https://makg.org/entity/2777874987 https://makg.org/entity/2909202108 https://makg.org/entity/2910805308
external data available at URL	http://www.nanbyou.or.jp/entry/4417
NCI Thesaurus ID	C165674
UMLS CUI	C4085238
WordLift URL	http://data.medicalrecords.com/medicalrecords/healthwise/epilepsy__myoclonic_seizures
Microsoft Academic ID	2777874987 2909202108 2910805308
ICD-11 ID (MMS)	8A61.22
ICD-11 (foundation)	951920505
WikiProjectMed ID	wds:Q6947909-B9089851-0222-4553-B4C0-B7385BB8B5E4
WikiProjectMed ID	Myoclonic astatic epilepsy
is owl:sameAs of	myoclonic astatic epilepsy
is about of	https://pl.wikipedia.org/wiki/Zesp%C3%B3%C5%82_Doose https://www.wikidata.org/wiki/Special:EntityData/Q6947909 Myoclonic astatic epilepsy https://de.wikipedia.org/wiki/Doose-Syndrom https://fa.wikipedia.org/wiki/%D8%B5%D8%B1%D8%B9_%D9%85%DB%8C%D9%88%DA%A9%D9%84%D9%88%D9%86%DB%8C%DA%A9_%D8%A2%D8%B3%D8%AA%D8%A7%D8%AA%DB%8C%DA%A9
is main subject of	Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). Myoclonic-Astatic Epilepsy in a Child With Sturge-Weber Syndrome The natural history of myoclonic astatic epilepsy (Doose syndrome) and Lennox-Gastaut syndrome Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress Neuropsychological findings: myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS).

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