|
rdfs:label
|
"Ciliopatia"@it
"Siliopatia"@fi
"Ziliopathie"@de
"ciliopathie"@fr
"ciliopathie"@nl
"ciliopathy"@en
"ciliopati"@nn
"ciliopatia"@ca
"ciliopatia"@pt
"ciliopatie"@pl
"ciliopatija"@sl
"ciliopatía"@es
"ciliopátia"@hu
"ciłiopatia"@vec
"Цилиопатија"@sr
"цилиопатия"@ru
"циліопатія"@uk
"اعتلال الأهداب الخلوية"@ar
"সিলিওপ্যাথি"@bn
"繊毛病"@ja
|
|
skos:altLabel
|
"Ciliopathie"@de
"ciliopathies"@en
"ciliopatia"@es
"اعتلال الأهداب"@ar
|
|
schema:description
|
"Erkrankung der Wimpern"@de
"csillófehérjék mutációi miatti genetikai betegség"@hu
"dysfonctionnement des cils primaires ou mobiles"@fr
"enfermedad genética"@es
"genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia"@en
"gruppo di malattie causate dall'alterazione funzionale del ciglio primario"@it
"генетичне захворювання, пов’язане з мутаціями, що призводять до порушення будови або функції війок"@uk
|
|
schema:dateModified
|
"2026-10-24T00:11:49+00:00"^^xsd:dateTime
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schema:version
|
2560163386
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wikibase:identifiers
|
14
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wikibase:sitelinks
|
16
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wikibase:statements
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102
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wd:statement/Q203031-F953C9C2-FC6C-4FC7-8CD8-3BF6BDF030F4
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wd:statement/Q203031-FC3C6A9A-A6F6-4A4E-8540-994BFC14C3FD
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p:P279
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wd:statement/Q203031-15316E68-741C-4823-943D-83466EDD1C4F
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wd:statement/Q203031-6AB709D4-570E-407B-9108-B5A8C78BAB61
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p:P2888
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wd:statement/Q203031-26E68645-FB21-41BC-84D9-19B9FF4FC838
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wd:statement/Q203031-9C2FE7C0-63FD-440D-8AFF-ADB47FB1DBCA
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p:P2892
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wd:statement/Q203031-533112F9-4467-42B2-9F6D-D59AA7E7CB40
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p:P31
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wd:statement/Q203031-46506AFB-A03A-4DF0-8550-EF1D70469A1D
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wd:statement/Q203031-77FB4CD9-812E-4A40-B10C-1CFD1CBC42EA
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p:P373
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wd:statement/Q203031-7C689028-CDAF-4EF2-BA47-9D9C47D4807E
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p:P486
|
wd:statement/Q203031-67495731-2F21-4537-86D6-9B9A391D3067
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p:P5008
|
wd:statement/Q203031-91D5CC4D-267B-45D6-BA92-1B115F6F11AC
|
|
p:P5270
|
wd:statement/Q203031-9324AB5E-94D6-49E8-9EB5-65A5E0A935A7
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|
p:P557
|
wd:statement/q203031-03C7F58E-8EC2-450C-AC19-69C354C5851C
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|
p:P6366
|
wd:statement/Q203031-777C4B60-1DD0-4C43-93FA-07823E4C417C
|
|
p:P646
|
wd:statement/Q203031-4DDF6EC9-EF4A-4043-A234-E4674AECFE56
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p:P672
|
wd:statement/Q203031-068e2583-4310-79da-f442-371eb4d96e84
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|
wd:statement/Q203031-a0415774-4d5a-5cbf-e489-9b10f5c45f7b
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p:P699
|
wd:statement/Q203031-D3C36F79-9ADE-44F0-B1F7-BB2724DFBAC2
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p:P910
|
wd:statement/Q203031-B34F3755-601E-4920-9A98-4767EF407F33
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|
p:direct-normalized/P486
|
<http://id.nlm.nih.gov/mesh/D000072661>
|
|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0005308>
|
|
p:direct-normalized/P6366
|
<https://makg.org/entity/2780561973>
|
|
p:direct-normalized/P672
|
<http://id.nlm.nih.gov/mesh/C16.131.077.245>
|
|
<http://id.nlm.nih.gov/mesh/C16.320.184>
|
|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:0060340>
|
|
wdt:P10283
|
"C2780561973"
|
|
"C2910395002"
|
|
wdt:P11956
|
"0003900"
|
|
wdt:P14914
|
"D363250"
|
|
wdt:P1550
|
"363250"
|
|
wdt:P18
|
<http://commons.wikimedia.org/wiki/Special:FilePath/Eukaryotic%20cilium%20diagram%20en.svg>
|
|
wdt:P1995
|
medical genetics
|
|
wdt:P2293
|
SPEF2
|
|
DCDC2
|
|
GLI1
|
|
SUFU
|
|
ARL3
|
|
BBS4
|
|
CENPF
|
|
EVC
|
|
FOXJ1
|
|
NPHP1
|
|
PDE6D
|
|
PIK3C2A
|
|
SPAG1
|
|
OFD1
|
|
CEP104
|
|
IFT140
|
|
KIAA0586
|
|
KIAA0753
|
|
TUBB4B
|
|
PIBF1
|
|
CEP164
|
|
MAPKBP1
|
|
KATNIP
|
|
RPGRIP1L
|
|
CBY1
|
|
TCTN3
|
|
TRAF3IP1
|
|
IFT172
|
|
DNAI1
|
|
NPHP3
|
|
B9D1
|
|
STK36
|
|
TMEM216
|
|
TMEM138
|
|
MKS1
|
|
DNAAF5
|
|
DYNC2I1
|
|
ARMC4
|
|
INPP5E
|
|
ADAMTS9
|
|
RPGRIP1
|
|
WDR35
|
|
IFT80
|
|
WDR19
|
|
DNAI2
|
|
TMEM237
|
|
CPLANE1
|
|
TMEM231
|
|
TCTN1
|
|
DYNC2H1
|
|
TXNDC15
|
|
TTC21B
|
|
CSPP1
|
|
TCTN2
|
|
IFT74
|
|
CEP290
|
|
ARMC9
|
|
DNAL1
|
|
RSPH3
|
|
ARL6
|
|
TMEM107
|
|
GLIS2
|
|
DYNC2I2
|
|
TMEM67
|
|
CEP41
|
|
EVC2
|
|
DNAAF6
|
|
NEK10
|
|
CEP120
|
|
CFAP418
|
|
ARL13B
|
|
ANKS6
|
|
TMEM218
|
|
FAM149B1
|
|
CCDC39
|
|
CCDC103
|
|
wdt:P279
|
monogenic disease
|
|
syndrome
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:0060340>
|
|
<http://purl.obolibrary.org/obo/DOID_0060340>
|
|
wdt:P2892
|
"C4277690"
|
|
wdt:P31
|
type of disease
|
|
rare disease
|
|
wdt:P373
|
"Ciliopathies"
|
|
wdt:P486
|
"D000072661"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P5270
|
"MONDO_0005308"
|
|
wdt:P557
|
"29887"
|
|
wdt:P6366
|
"2780561973"
|
|
wdt:P646
|
"/m/04crk2s"
|
|
wdt:P672
|
"C16.131.077.245"
|
|
"C16.320.184"
|
|
wdt:P699
|
"DOID:0060340"
|
|
wdt:P910
|
Category:Ciliopathy
|
