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rdfs:label
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"Ataxia espinocerebelar tipo 29"@pt
"Ataxia espinocerebelar tipo 29"@pt-br
"spinocerebellar ataxia type 29"@en
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skos:altLabel
|
"Aplasia of Cerebellar Vermis"@en
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|
"Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant"@en
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|
"Cerebellar Vermis Aplasia"@en
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|
"Congenital nonprogressive spinocerebellar ataxia"@en
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|
"SCA29"@en
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|
"SPINOCEREBELLAR ATAXIA 29"@en
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|
"SPINOCEREBELLAR ATAXIA 29; SCA29"@en
|
|
"Spinocerebellar Ataxia type 29"@en
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|
schema:description
|
"Human disease"@en
"Krankheit"@de
"хвороба людини"@uk
"مرض يصيب الإنسان"@ar
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|
schema:dateModified
|
"2026-10-23T23:37:14+00:00"^^xsd:dateTime
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schema:version
|
2560156696
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|
wikibase:identifiers
|
10
|
|
wikibase:sitelinks
|
0
|
|
wikibase:statements
|
34
|
|
p:P11430
|
wd:statement/Q21097773-b6baffe8-4d9e-1dde-7fae-7eecae7c074e
|
|
p:P14914
|
wd:statement/Q21097773-4FFBA6A4-4E81-4352-B801-7993AC5CBBA0
|
|
p:P1550
|
wd:statement/Q21097773-388065BD-9AF4-42C2-B53A-08EE0CDBF51E
|
|
p:P2293
|
wd:statement/Q21097773-085CE9E1-7638-4CBC-974D-08DDE931CDE6
|
|
p:P279
|
wd:statement/Q21097773-0348E9F2-ED9D-4357-AA38-7DCE755AD726
|
|
wd:statement/Q21097773-ECDAC3E3-523B-4072-80C9-DB3B77BD3C9C
|
|
p:P2841
|
wd:statement/Q21097773-5E618CA9-65E6-4974-B635-2FA22362B5B4
|
|
wd:statement/Q21097773-C55B10A3-E1FF-4FC1-A49A-3AE9C902A17F
|
|
p:P2888
|
wd:statement/Q21097773-B84462E3-EB1D-4603-B9F1-E8201C814D3D
|
|
wd:statement/Q21097773-D98C2D85-EDB8-4856-94F5-CB0CD4B60D05
|
|
wd:statement/Q21097773-E532DF12-B3F4-4C61-8FFF-90C31CA88D61
|
|
p:P2892
|
wd:statement/Q21097773-4239BBB3-382A-40AC-87E9-EEED37E00B61
|
|
p:P31
|
wd:statement/Q21097773-6409321A-82EF-4659-BDB9-DDE59D56B93F
|
|
wd:statement/Q21097773-A6F47E89-3FCB-49B2-A51A-C05B3E3833DA
|
|
p:P4229
|
wd:statement/Q21097773-F36866B6-F900-47CA-BD34-4E5BC6B3C910
|
|
p:P4317
|
wd:statement/Q21097773-09F48EA8-E79B-40DD-813B-CA87EB5CDFB7
|
|
p:P486
|
wd:statement/Q21097773-29F16F3F-B54F-4285-9FD7-1FA33B4C9D70
|
|
p:P492
|
wd:statement/Q21097773-6E099302-66E0-4267-8DF7-C8506FD89EF4
|
|
p:P5008
|
wd:statement/Q21097773-BCE9A9C5-8CDE-4416-A3A9-C080B35CF5FC
|
|
p:P5270
|
wd:statement/Q21097773-DC8A88F6-AC55-4E6F-93F7-CD658126B72A
|
|
p:P6532
|
wd:statement/Q21097773-02CDAE8C-97AD-4D80-A8D4-474431D011DA
|
|
wd:statement/Q21097773-079CF01A-DA11-4F70-BCFF-0A83B392A3D8
|
|
wd:statement/Q21097773-1F4AF645-8804-4335-AEE5-B1C7BFE7161C
|
|
wd:statement/Q21097773-32984936-1568-402A-B818-14A5A2AFD6C9
|
|
wd:statement/Q21097773-32DCBD7B-C0F3-4493-BEDE-48009E7E43C4
|
|
wd:statement/Q21097773-51782EC6-F6D2-4F62-8D7D-8861E88563EE
|
|
wd:statement/Q21097773-8213AFC3-04D2-459C-BE57-EA5645127E3B
|
|
wd:statement/Q21097773-875192A7-30E3-4F12-A794-14287411CCCB
|
|
wd:statement/Q21097773-99C7AD3F-FAF4-41FF-BF90-076B52DD37D6
|
|
wd:statement/Q21097773-A755F4A2-FC91-4D33-A0E4-CAA0C9EFA771
|
|
wd:statement/Q21097773-B9FEA9B1-22A7-482A-9677-54A4F6E4A3AE
|
|
wd:statement/Q21097773-E0D36A07-5908-4BE9-8D2B-E7698F2E3560
|
|
wd:statement/Q21097773-E85C70C9-F6B9-46DB-9130-6E38DC41945C
|
|
p:P699
|
wd:statement/Q21097773-6CCECC65-466B-406E-8EF3-F8DB2FB312CC
|
|
p:direct-normalized/P486
|
<http://id.nlm.nih.gov/mesh/C537206>
|
|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0007298>
|
|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:0050978>
|
|
wdt:P11430
|
"DI-03660"
|
|
wdt:P14914
|
"D208513"
|
|
wdt:P1550
|
"208513"
|
|
wdt:P2293
|
ITPR1
|
|
wdt:P279
|
autosomal dominant cerebellar ataxia type I
|
|
wdt:P2841
|
neonatal onset
|
|
infantile onset
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:0050978>
|
|
<http://purl.obolibrary.org/obo/DOID_0050978>
|
|
<http://www.orpha.net/ORDO/Orphanet_208513>
|
|
wdt:P2892
|
"C1861732"
|
|
wdt:P31
|
type of disease
|
|
rare disease
|
|
wdt:P4229
|
"G11.0"
|
|
wdt:P4317
|
"10480"
|
|
wdt:P486
|
"C537206"
|
|
wdt:P492
|
"117360"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P5270
|
"MONDO_0007298"
|
|
wdt:P6532
|
Brisk reflexes
|
|
Congenital horizontal nystagmus
|
|
Persistent head lag
|
|
Jaw hyperreflexia
|
|
Bilateral facial palsy
|
|
opisthotonus
|
|
hyperopia
|
|
abnormal facial shape
|
|
low birth weight infant
|
|
dyscalculia
|
|
atrial heart septal defect
|
|
congenital heart disease
|
|
cryptorchidism
|
|
wdt:P699
|
"DOID:0050978"
|