About: pyridoxine-dependent epilepsy

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

extremely rare disorder

Attributes	Values
rdf:type	Item
owl:sameAs	pyridoxine-dependent epilepsy
description	extrem seltene Erkrankung (de) extremely rare disorder (en)
exact match	wds:Q7263591-5C6B3A76-29A8-4BA3-89E3-95C82193FE5A wds:Q7263591-8730BCD2-F74D-49EE-A5E7-925A12C5C16D wds:Q7263591-B7847FA2-C624-4CBD-A743-CF152C5AED2F
exact match	http://identifiers.org/doid/DOID:0080768 http://www.orpha.net/ORDO/Orphanet_3006 http://purl.obolibrary.org/obo/DOID_0080768
Mondo ID	wds:Q7263591-51B58E22-FDDC-49E5-8F79-D4C94A8F905D
Disease Ontology ID	wds:Q7263591-E421C4F0-0020-4E99-8E86-F0CE73EB2776
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009945
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0080768
Mondo ID	MONDO_0009945
Disease Ontology ID	DOID:0080768
rdfs:label	Пиридоксин-зависимая эпилепсия (ru) Pyridoxinabhängige Epilepsie (de) pyridoxine-dependent epilepsy (en) épilepsie pyridoxino-dépendante (fr)
skos:prefLabel	Пиридоксин-зависимая эпилепсия (ru) Pyridoxinabhängige Epilepsie (de) pyridoxine-dependent epilepsy (en) épilepsie pyridoxino-dépendante (fr)
name	Пиридоксин-зависимая эпилепсия (ru) Pyridoxinabhängige Epilepsie (de) pyridoxine-dependent epilepsy (en) épilepsie pyridoxino-dépendante (fr)
instance of	wds:Q7263591-0BE47A58-6531-4A36-AB51-BA9E9D0B4946 wds:Q7263591-A7FC3464-80FD-4166-9828-FEE8A408CCF6
instance of	class of disease rare disease
subclass of	wds:Q7263591-0B0C1D61-1C6C-4D29-9EE0-0B8C2F64C345 wds:Q7263591-188EB62C-FEE4-460C-A53F-E1875DBA52F6 wds:Q7263591-27034A87-202F-41DC-BDCD-C4E29CE4105F wds:Q7263591-6AD5A1BE-AFEA-45C0-9937-EAF71F2F2C66 wds:Q7263591-E156FBC4-7D8B-4012-9C14-88E82F944A15 wds:Q7263591-f83dabcd-4c39-e57e-e085-ecbac3c777a4
subclass of	epilepsy autosomal recessive disease rare genetic epilepsy neurometabolic disease metabolic neurotransmission anomaly with epilepsy disorder of pyridoxine metabolism
eMedicine ID	wds:q7263591-8D25ABCF-A21B-48A3-885E-FAB0496EDA6D
eMedicine ID	985667
KEGG ID	wds:Q7263591-8A9E4E0D-C7C9-46FE-BF33-E53C3C3D69C5
KEGG ID	http://www.kegg.jp/entry/H01247
KEGG ID	H01247
UniProt disease ID	wds:Q7263591-8c3b8a25-468a-4721-7c4d-c2c31b9fd40f
Orphanet ID	wds:Q7263591-9fae977f-4406-ed8d-0f5f-656fe1bc25f6
genetic association	wds:Q7263591-31914903-4DFB-47F8-B92A-6641ADED6E4B wds:Q7263591-B878F27F-3304-42F6-830D-61439B6E926A
ICD-10-CM	wds:Q7263591-598C7861-9AB1-4F3C-A550-5002365913AB
GARD rare disease ID	wds:Q7263591-0ABCB8D4-41E3-4332-8D22-8BEC92BEB99B
OMIM ID	wds:q7263591-A7F264FB-E0F4-4BF2-8ABD-C06DBEECD3C5
Genetics Home Reference Conditions ID	wds:Q7263591-6799B5B4-5057-4424-B1B7-A3C056AE328F
UniProt disease ID	DI-02236
Orphanet ID	3006
genetic association	ALDH7A1 PLPBP
ICD-10-CM	G40.8
GARD rare disease ID	9298
OMIM ID	266100
Genetics Home Reference Conditions ID	pyridoxine-dependent-epilepsy
skos:altLabel	EPD (en) Pyridoxine dependency (en) Pyridoxine-Dependent Epilepsy (en) Aasa Dehydrogenase Deficiency (en) Antiquitin deficiency (en) Déficit en antiquitine (fr) EPILEPSY, PYRIDOXINE-DEPENDENT (en) EPILEPSY, PYRIDOXINE-DEPENDENT; EPD (en) Epilepsie vitamine B6-dépendante (fr) Pyridoxine Dependency With Seizures (en) Vitamin B6-dependent seizures (en)
UMLS CUI	wds:Q7263591-6922C055-4DB5-4C86-BDDD-9303563BF5D7 wds:Q7263591-881F9896-D4F0-4A5F-8624-EA46052DA180
MeSH descriptor ID	wds:Q7263591-7e19eae7-4cbd-821a-0025-1b629bf188b0
Microsoft Academic ID	wds:Q7263591-3C9E76D3-8547-44B0-B5CF-05238CACB862
ICD-11 ID (MMS)	wds:Q7263591-9F6D561A-C99A-44DC-93D3-9C515445B444
ICD-11 (foundation)	wds:Q7263591-44A86F2F-8AF7-4B48-92DC-88194E97A799
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536254
Microsoft Academic ID	https://makg.org/entity/2779644819
UMLS CUI	C1291560 C1849508
MeSH descriptor ID	C536254
Microsoft Academic ID	2779644819
ICD-11 ID (MMS)	8A61.00
ICD-11 (foundation)	1632334328
is owl:sameAs of	pyridoxine-dependent epilepsy
is about of	pyridoxine-dependent epilepsy https://www.wikidata.org/wiki/Special:EntityData/Q7263591 Pyridoxine-dependent epilepsy https://de.wikipedia.org/wiki/Pyridoxinabh%C3%A4ngige_Epilepsie https://ru.wikipedia.org/wiki/%D0%9F%D0%B8%D1%80%D0%B8%D0%B4%D0%BE%D0%BA%D1%81%D0%B8%D0%BD-%D0%B7%D0%B0%D0%B2%D0%B8%D1%81%D0%B8%D0%BC%D0%B0%D1%8F_%D1%8D%D0%BF%D0%B8%D0%BB%D0%B5%D0%BF%D1%81%D0%B8%D1%8F
is main subject of	Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. [Pyridoxine-dependent epilepsy in an infant]

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