About: EAST syndrome

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About: EAST syndrome Goto Sponge NotDistinct Permalink

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SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia)

Attributes	Values
rdf:type	Item
owl:sameAs	EAST syndrome
description	Krankheit (de) maladie (fr) مرض يصيب الإنسان (ar) хвороба (uk) SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia) (en)
exact match	wds:Q5322531-7DA7245B-3285-4129-84CF-10A1FE979996 wds:Q5322531-E8F02A20-D94E-414E-934C-6EE062DAB97E wds:Q5322531-EF4BC43C-3EE8-4E5E-84BC-02559B975B4C
exact match	http://purl.obolibrary.org/obo/DOID_0060484 http://identifiers.org/doid/DOID:0060484 http://www.orpha.net/ORDO/Orphanet_199343
Mondo ID	wds:Q5322531-75FC337C-309C-4E66-B17D-67BACF221252
Disease Ontology ID	wds:Q5322531-000FDD71-27A1-4E4F-97CA-C7F55B32C3D0
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0013005
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060484
Mondo ID	MONDO_0013005
Disease Ontology ID	DOID:0060484
rdfs:label	EAST syndrome (en) Syndrome SeSAME (fr) متلازمة إيست (ar)
skos:prefLabel	EAST syndrome (en) Syndrome SeSAME (fr) متلازمة إيست (ar)
name	EAST syndrome (en) Syndrome SeSAME (fr) متلازمة إيست (ar)
instance of	wds:Q5322531-1653765B-4EDA-427A-8C40-5C7F2E07938A wds:Q5322531-B963C899-9450-4B03-9C8E-1A58B321CD1B wds:Q5322531-BAA7A71B-6A19-4244-9892-B4C8C17CB06C wds:Q5322531-F997497B-C115-4329-B314-4B5FA4005FAB
instance of	class of disease rare disease head and neck disease developmental defect during embryogenesis
subclass of	wds:Q5322531-286F1A71-631C-48F1-82CE-399612D4FE29 wds:Q5322531-492DC83A-054C-412C-B1EB-326B34E2E228 wds:Q5322531-563CCCDB-E8BD-410E-B8B3-ED3073DE08AE wds:Q5322531-63941903-7162-40D6-89AC-4C812969E982 wds:Q5322531-6B35F64A-94F5-4EDE-BF4A-8315F9B66A41 wds:Q5322531-87AA68FA-194C-44E2-82CF-EEE22DBE1AE8 wds:Q5322531-92F7B3EC-2B21-404A-B0F7-7CBA17B3B814 wds:Q5322531-A9C1323B-6329-49E8-84B0-D52F87CC224E wds:Q5322531-F50DCE4B-A261-4652-98E6-928F453CAE8E
subclass of	genetic disease syndrome cerebral degeneration tubulopathy genetic syndromic intellectual disability nervous system heredodegenerative disease syndromic genetic deafness inherited renal tubular disease channelopathy with epilepsy
KEGG ID	wds:Q5322531-85291A42-5F9F-487F-9593-FD833871F125
KEGG ID	http://www.kegg.jp/entry/H00803
KEGG ID	H00803
UniProt disease ID	wds:Q5322531-ee339f69-4626-9d11-8661-db2398907803
Orphanet ID	wds:Q5322531-5387EE57-9B57-4ADC-9BB7-59F58056DD95
genetic association	wds:Q5322531-20CD5DA8-119A-4109-B4BB-3D830A3FC24C
GARD rare disease ID	wds:Q5322531-10E1679C-E72B-429E-AF41-01C43CB14ECD
OMIM ID	wds:Q5322531-4CD7A76E-0AF3-447F-A689-EEC03DDEAE42
UniProt disease ID	DI-02543
Orphanet ID	199343
genetic association	KCNJ10
GARD rare disease ID	10514
OMIM ID	612780
skos:altLabel	East Syndrome (en) SESAMES (en) SeSAME syndrome (en) Syndrome EAST (fr) epilepsy, ataxia, sensorineural deafness and tubulopathy (en) Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome (en) Epilepsy, Ataxia, Sensorineural Deafness, and Tubulopathy (en) SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES (en) seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance (en) SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (en)
UMLS CUI	wds:Q5322531-BDD31E53-E524-4428-A590-BC3E4E410166
MeSH descriptor ID	wds:Q5322531-67FA4BFF-1C8D-4D68-883E-D6AC228BEFDC wds:Q5322531-85EF22A1-C982-40CD-B71C-0512FA6736BC
on focus list of Wikimedia project	wds:Q5322531-54D1C1C6-875E-474B-9B05-5BFFBF194283
Microsoft Academic ID	wds:Q5322531-776F5726-D12E-4B4B-BA22-1257AC2B08D7
ICD-11 (foundation)	wds:Q5322531-8d9bf5a2-42d8-8645-7684-ae6ae00b4f07
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C557674
Microsoft Academic ID	https://makg.org/entity/2775971176
UMLS CUI	C2748572
MeSH descriptor ID	C557674
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2775971176
ICD-11 (foundation)	781930640
is owl:sameAs of	EAST syndrome
is about of	EAST syndrome https://ar.wikipedia.org/wiki/%D9%85%D8%AA%D9%84%D8%A7%D8%B2%D9%85%D8%A9_%D8%A5%D9%8A%D8%B3%D8%AA https://www.wikidata.org/wiki/Special:EntityData/Q5322531 EAST syndrome
is main subject of	KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Variable loss of Kir4.1 channel function in SeSAME syndrome mutations. KCNJ10 mutations disrupt function in patients with EAST syndrome The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel

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