SHMARQL

Joubert syndrome

<http://www.wikidata.org/entity/Q1101694>

genetic disorder affecting the cerebellum
rdfs:label
"Joubert syndrome"@en
skos:altLabel
"CPD IV"@en
"Cerebelloparenchymal disorder IV"@en
"Classic Joubert syndrome"@en
"JBTS"@en
"Joubert syndrome type A"@en
"Joubert-Boltshauser syndrome"@en
"Pure Joubert syndrome"@en
"cerebellooculorenal syndrome"@en
schema:description
"genetic disorder affecting the cerebellum"@en
schema:dateModified "2026-10-24T00:22:24+00:00"^^xsd:dateTime
schema:version 2560165199
wikibase:identifiers 20
22
wikibase:sitelinks 17
wikibase:statements 79
p:P10283 wd:statement/Q1101694-B880E103-3554-4B43-A183-D79CC43C5D79
p:P11143 wd:statement/Q1101694-C40836A7-FE54-4479-8D78-17032D05CB73
p:P1325 wd:statement/Q1101694-F236F136-5331-401E-A4E4-6C9417E054CC
p:P138 wd:statement/Q1101694-1927e09f-4d37-e39a-03f0-7a9b36630289
p:P14914 wd:statement/Q1101694-3A775FE6-92F3-49ED-966A-AF5E1ED97339
p:P1550 wd:statement/Q1101694-C19FDA3F-5E95-4D14-8CE9-2FA8991039B6
p:P1748 wd:statement/Q1101694-034C38F3-4F17-4F1A-A9F8-8BBCFC83CDF0
p:P1995 wd:statement/Q1101694-D5F13AE2-1769-4C54-95C1-A5EA926ADD5B
p:P2293 wd:statement/Q1101694-017E2447-B519-4F01-BDE1-E2CFFAF313E7
wd:statement/Q1101694-08B5D23F-1313-4809-AFBA-1C562B6B8AC9
wd:statement/Q1101694-0EDC72D6-9942-444A-A566-98A11D151E9C
wd:statement/Q1101694-1943A7A4-6A6E-4151-BE3E-A16D928FDC03
wd:statement/Q1101694-25ACCFF6-8B66-4FD7-9A82-987D511E4504
wd:statement/Q1101694-28BD02CE-B822-406E-B586-6F90B255A6D1
wd:statement/Q1101694-2A2B8E72-1EA5-4596-A471-83841918A56D
wd:statement/Q1101694-32CD9DBE-A636-45BD-90C9-4415199BC575
wd:statement/Q1101694-34E43B70-B9D0-4CF6-8062-C643C94BE7AC
wd:statement/Q1101694-39A9D277-D8F6-4DD3-809A-54EE7BE0CF39
wd:statement/Q1101694-39F33429-6209-40BB-BBBA-B01C32BF0B39
wd:statement/Q1101694-4107DF5E-92DB-4108-824E-99199CC385F2
wd:statement/Q1101694-4250AB7A-3782-4131-B41C-AF9579EC69DA
wd:statement/Q1101694-45244EEF-E897-45D1-8477-D4D0F26B3E64
wd:statement/Q1101694-45C5E314-DB97-4583-9093-54141A3838C5
wd:statement/Q1101694-4FD95D0D-C1A4-4DCB-8C97-E32FAB7CCC06
wd:statement/Q1101694-56862161-6C55-4815-8EAB-FF068FB4A509
wd:statement/Q1101694-5A53985E-9B1B-4545-90CF-18ABD16A4AC4
wd:statement/Q1101694-5B3A1797-7D40-43D9-97F1-2EBC900EB648
wd:statement/Q1101694-6718643B-8FE6-4ADE-A5CA-380224A7C1C5
wd:statement/Q1101694-69B5C159-B4B7-4D25-974A-0609A8D697E3
wd:statement/Q1101694-786E44FE-99DE-4925-877E-F7CD0E06DE20
wd:statement/Q1101694-7949406C-A0E6-4D1A-966E-A8B68EF4A361
wd:statement/Q1101694-79A622CD-7879-4302-943E-0BCEB255FAD7
wd:statement/Q1101694-7E3AD616-BD04-4DF7-9A74-7F4323867752
wd:statement/Q1101694-88DDF85A-9204-4A69-9D46-EF7FF3A22EF1
wd:statement/Q1101694-925E1DCE-ACDA-4387-AFAA-4D571AE05E62
wd:statement/Q1101694-929F720E-9F69-470F-AB75-AD6EB4C7A30B
wd:statement/Q1101694-9C18B73F-788A-4124-B450-67409057E05D
wd:statement/Q1101694-AF288178-AF42-406B-B002-8BD29069723D
wd:statement/Q1101694-B978C5AD-DFE4-483E-B54C-58C6F1D3D15C
wd:statement/Q1101694-C15A27E9-AE9B-4E87-840D-4CC456B40229
wd:statement/Q1101694-C34E41B2-70BD-4EC1-A268-499CEB6911E9
wd:statement/Q1101694-CF61623F-5851-463A-AAB8-3ED33698839A
wd:statement/Q1101694-D0D1D033-B20A-42BD-8672-066B2FE2DC8A
wd:statement/Q1101694-D16087E0-7656-480F-9E0B-4787A14D8C9A
wd:statement/Q1101694-D683E639-EA7F-4816-8423-770EF537015E
wd:statement/Q1101694-D837C8C3-BB0E-4136-833D-4D86122EAE65
wd:statement/Q1101694-F857B95D-1DCF-4BDA-A583-EF780306A306
wd:statement/Q1101694-FA42A7CD-094D-4282-A1A8-D77A6DF4AA3A
p:P279 wd:statement/Q1101694-87e23c79-43f8-471f-d50e-a21a99beec60
wd:statement/Q1101694-AC9E6200-8425-4CE4-9F01-AF42D1DECA8A
wd:statement/Q1101694-CC453EA6-041F-4FC5-9A8A-150AD7AE7C52
wd:statement/Q1101694-E6C17B73-1177-4496-9307-13B0DD1C4EE6
p:P2841 wd:statement/Q1101694-D65997B0-3144-4336-B372-1FFE5B7973C4
p:P2888 wd:statement/Q1101694-353BFCC4-9A10-468D-B989-8E32CE6FE179
wd:statement/Q1101694-6D002A72-E48E-462A-B7A2-EDA1934F10F5
wd:statement/Q1101694-A463E809-528F-48BB-86E5-D34FA98E4066
p:P2892 wd:statement/Q1101694-3B213421-4D2F-41D2-8674-1FC8F3673FF7
p:P31 wd:statement/Q1101694-3829A2B0-7B1A-47C9-923B-06E27959F79D
wd:statement/Q1101694-DEE2CC95-E248-4248-9563-37157FF734DF
wd:statement/Q1101694-EEDC2C02-1795-4EDC-B8C9-FE7DF9EEC70E
p:P3417 wd:statement/Q1101694-DD168765-9E4E-402B-96F0-835B883F830E
p:P373 wd:statement/Q1101694-c46a71bc-4568-4458-94b6-1f1a7e415f58
p:P4229 wd:statement/Q1101694-28712F2E-73F9-457F-89B5-4438128248C1
p:P4233 wd:statement/Q1101694-6fce99c9-476c-1d5b-2033-5f2b0343625f
p:P4317 wd:statement/Q1101694-E9458E8E-EE6A-4F99-B852-7DAC4F58F44B
p:P492 wd:statement/Q1101694-3FA6AA98-6D67-43B9-9C87-1BD42E09AD58
p:P493 wd:statement/q1101694-0A671EC8-47D0-4660-BA28-47964067767D
p:P5008 wd:statement/Q1101694-84BF5E43-410D-4587-A9BF-22F6329D80FD
p:P5270 wd:statement/Q1101694-44CE5C4F-B569-4BDD-8C11-AD6885E7F874
p:P557 wd:statement/q1101694-D21F5162-83D5-4DB2-A8D5-1BA6DE74FC74
p:P6366 wd:statement/Q1101694-3841A91D-7464-4721-93F7-5802375B7D6B
wd:statement/Q1101694-CB0C9C04-41C1-4A9E-B735-13302995D482
p:P646 wd:statement/Q1101694-33D1C505-EB7D-4B2A-9358-16C2E50EE9C3
p:P6532 wd:statement/Q1101694-27B75617-F64F-4B10-B32D-4593AE67D371
p:P665 wd:statement/Q1101694-1098E74C-EFE1-4162-B960-2CBE932E8763
p:P699 wd:statement/Q1101694-17C97F90-B7AA-4244-A2B6-7F868DCB9E19
p:P7329 wd:statement/Q1101694-6425E362-1B1A-4F09-997F-60286B2383EB
p:P7464 wd:statement/Q1101694-19F777BD-ECB7-4AC4-9EE6-7E1D75904B73
p:P7807 wd:statement/Q1101694-6373412F-D185-47F5-9AB0-0BECDF65807C
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0018772>
p:direct-normalized/P6366 <https://makg.org/entity/2777386794>
<https://makg.org/entity/2911216662>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H00530>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0050777>
wdt:P10283 "C2777386794"
wdt:P11143 "Joubert syndrome"
wdt:P1325 <http://www.nanbyou.or.jp/entry/4552>
wdt:P138 Marie Joubert
wdt:P14914 "D00475"
wdt:P1550 "475"
wdt:P1748 "C74996"
wdt:P1995 medical genetics
wdt:P2293 SUFU
ARL3
NPHP1
PDE6D
OFD1
CEP104
KIAA0586
KIAA0753
TOPORS
PIBF1
TOGARAM1
KATNIP
RPGRIP1L
CBY1
TCTN3
B9D1
TMEM216
TMEM138
AHI1
MKS1
INPP5E
CC2D2A
TMEM237
CPLANE1
TMEM231
TCTN1
CSPP1
TCTN2
IFT74
CEP290
ARMC9
B9D2
TMEM67
CEP41
CEP120
ARL13B
HYLS1
TMEM218
FAM149B1
KIF7
wdt:P279 autosomal recessive
ciliopathy
Joubert syndrome and related disorders
wdt:P2841 congenital onset
wdt:P2888 <http://identifiers.org/doid/DOID:0050777>
<http://purl.obolibrary.org/obo/DOID_0050777>
<http://www.orpha.net/ORDO/Orphanet_475>
wdt:P2892 "C0431399"
wdt:P31 type of disease
designated intractable/rare disease
rare disease
wdt:P3417 "Joubert-Syndrome"
wdt:P373 "Joubert syndrome"
wdt:P4229 "Q04.3"
wdt:P4233 "jouberts-syndrome"
wdt:P4317 "6802"
wdt:P492 "213300"
wdt:P493 "742.2"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0018772"
wdt:P557 "30688"
wdt:P6366 "2777386794"
"2911216662"
wdt:P646 "/m/0fm08"
wdt:P6532 gait abnormality
wdt:P665 "H00530"
wdt:P699 "DOID:0050777"
wdt:P7329 "LD20.00"
wdt:P7464 "joubert-syndrome"
wdt:P7807 "1414756318"
Download as:
TurtleJSON-LDRDF/XML
data from SPARQL profile: Wikidata