SHMARQL

Joubert syndrome with orofaciodigital defect

<http://www.wikidata.org/entity/Q3508580>

Joubert syndrome subtype with orofaciodigital defect
rdfs:label
"Joubert syndrome with orofaciodigital defect"@en
skos:altLabel
"Joubert syndrome with oral-facial-digital syndrome"@en
"OFD6"@en
"OROFACIODIGITAL SYNDROME VI; OFD6"@en
"Ofds 6"@en
"Oral-Facial-Digital Syndrome, Type 6"@en
"Oral-facial-digital syndrome type 6"@en
"Orofaciodigital syndrome type 6"@en
"Polydactyly - cleft lip/palate - psychomotor retardation"@en
"Polydactyly cleft lip palate psychomotor retardation"@en
"Polydactyly, Cleft Lip/Palate or Lingual Lump, and Psychomotor Retardation"@en
"Polydactyly-cleft lip/palate-psychomotor retardation syndrome"@en
"Varadi syndrome"@en
"Varadi-Papp syndrome"@en
"Váradi syndrome"@en
"Váradi-Papp syndrome"@en
"orofaciodigital syndrome VI"@en
schema:description
"Joubert syndrome subtype with orofaciodigital defect"@en
schema:dateModified "2026-10-23T23:53:56+00:00"^^xsd:dateTime
schema:version 2560160097
wikibase:identifiers 10
12
wikibase:sitelinks 4
wikibase:statements 33
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p:P1550 wd:statement/Q3508580-B0A382E6-BC71-46EA-A65E-D4EABB8F20F7
p:P1748 wd:statement/Q3508580-875929A2-AAFC-4D01-A6B3-36DDABF9DD1F
p:P2293 wd:statement/Q3508580-04542823-65A5-496D-A174-EA88D9D8BD2C
wd:statement/Q3508580-3A764AEE-F77E-41B0-BFE4-C61E171D992B
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wd:statement/Q3508580-661FF0FF-D303-49FE-83F8-0C53DF44BEE7
wd:statement/Q3508580-93E67389-C432-4EEC-82E1-B06098A1CBD8
wd:statement/Q3508580-C7C7B406-6341-487D-98D4-C8B359E823BD
wd:statement/Q3508580-DFDC29A0-6BD5-44E6-95B0-6AF6EC266672
wd:statement/Q3508580-E92577EC-B1BB-4B4F-AF07-BDB190A58087
p:P279 wd:statement/Q3508580-52D7E4DD-51B2-4EA1-AB02-17CC5AC2239C
wd:statement/Q3508580-6494f2f9-498a-1176-eeb4-ce25f3918704
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wd:statement/Q3508580-8C3E2DC8-B569-41A5-AFCB-18B309DE7CC3
p:P2888 wd:statement/Q3508580-123683C3-6C98-4D32-926D-9EF3A092A187
wd:statement/Q3508580-8CBBEE7B-ECAB-49BE-8A46-FA51E23439D4
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p:P2892 wd:statement/Q3508580-F32E1B44-8878-41B8-9868-D027D5E113FA
p:P31 wd:statement/Q3508580-B3F0D4B5-7CB2-4B5C-9AE3-CB97FDF93EDA
wd:statement/Q3508580-FC6C54F5-383B-430E-AA61-D1AC3CA1C340
p:P4229 wd:statement/Q3508580-F041AF31-ACF1-44FA-BE95-771A724DA014
p:P4317 wd:statement/Q3508580-8D166459-E3A8-405D-A60F-A496FABBE485
p:P486 wd:statement/Q3508580-C7771E3B-5A99-41DF-B83A-89D7B8D18407
p:P492 wd:statement/Q3508580-9012B70A-2CF6-4D4A-BF42-981D4DD229B5
p:P5008 wd:statement/Q3508580-116E5D85-E431-402B-B1CA-C472A951BA43
p:P5270 wd:statement/Q3508580-C856DE3E-94EC-48FD-8309-66FF57E0952B
p:P699 wd:statement/Q3508580-C9B29A71-6976-4560-8971-D9281A0D4137
p:P7807 wd:statement/Q3508580-493FEE2D-2D74-44FF-B31D-C3DCA70FC8C4
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C536531>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0010176>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0060376>
wdt:P11430 "DI-04278"
wdt:P1193 0.000001^^xsd:decimal
wdt:P14914 "D02754"
wdt:P1550 "2754"
wdt:P1748 "C124841"
wdt:P2293 PDE6D
OFD1
KIAA0753
TOPORS
TCTN3
TMEM216
CPLANE1
TMEM231
FAM149B1
KIF7
wdt:P279 Joubert syndrome
oral-facial-digital syndrome
wdt:P2841 neonatal onset
infantile onset
wdt:P2888 <http://identifiers.org/doid/DOID:0060376>
<http://purl.obolibrary.org/obo/DOID_0060376>
<http://www.orpha.net/ORDO/Orphanet_2754>
wdt:P2892 "C2745997"
wdt:P31 type of disease
rare disease
wdt:P4229 "Q04.3"
wdt:P4317 "4412"
wdt:P486 "C536531"
wdt:P492 "277170"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0010176"
wdt:P699 "DOID:0060376"
wdt:P7807 "1990646046"
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