Matches in Wikidata for { <http://www.wikidata.org/entity/Q32145701> ?p ?o ?g. }
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- Q32145701 description "A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has material basis in mutation in the TMEM216 gene on chromosome 11q12.2." @default.
- Q32145701 name "Joubert syndrome 2" @default.
- Q32145701 type Item @default.
- Q32145701 label "Joubert syndrome 2" @default.
- Q32145701 altLabel "CORS2" @default.
- Q32145701 altLabel "JBTS2" @default.
- Q32145701 altLabel "JOUBERT SYNDROME 2" @default.
- Q32145701 altLabel "JOUBERT SYNDROME 2; JBTS2" @default.
- Q32145701 altLabel "Joubert Syndrome type 2" @default.
- Q32145701 altLabel "cerebellooculorenal syndrome 2" @default.
- Q32145701 prefLabel "Joubert syndrome 2" @default.
- Q32145701 P11430 Q32145701-90b83ce5-4249-58b6-d98c-339251369867 @default.
- Q32145701 P2293 Q32145701-879E5EB3-91C1-4387-933A-B938FA648515 @default.
- Q32145701 P279 Q32145701-736BA0D4-496E-4115-AB20-5C73290F4D96 @default.
- Q32145701 P279 Q32145701-C3205EB9-C124-4D66-99CB-BD882C8DC425 @default.
- Q32145701 P2888 Q32145701-51906030-B7D4-430E-98F0-DCF6BD5A35ED @default.
- Q32145701 P2888 Q32145701-725CB9FD-6D47-4515-A0F0-03838CC85849 @default.
- Q32145701 P2888 Q32145701-D7FE3A81-8A5F-42F7-9826-97E1ECB129F9 @default.
- Q32145701 P2892 Q32145701-FB12CF58-599B-4ED0-A9CD-FBF642C00F7D @default.
- Q32145701 P31 Q32145701-34163D52-BEC2-4DE5-9B90-6A52F7267771 @default.
- Q32145701 P31 Q32145701-50DC36AC-C576-4418-BFA3-A2C3285E9E1E @default.
- Q32145701 P4317 Q32145701-AEA2607E-A9E1-4C7B-844E-270796DAAB64 @default.
- Q32145701 P486 Q32145701-A13DA766-9ADB-421C-977C-6EC840D14255 @default.
- Q32145701 P486 Q32145701-DDF7D7DC-2EDA-4047-9106-12FF78FDB009 @default.
- Q32145701 P492 Q32145701-3FDEC829-DBCF-4D38-AB59-B6F6F121B946 @default.
- Q32145701 P5008 Q32145701-8F10579F-CE9A-40E9-9F7C-60E50AF038BD @default.
- Q32145701 P5270 Q32145701-DEB2AE5C-2608-41E8-A354-0EC89F0B27A6 @default.
- Q32145701 P699 Q32145701-3C7EF9B0-81A7-4E04-9946-3B9BD293CFDB @default.
- Q32145701 P486 C536294 @default.
- Q32145701 P5270 MONDO_0011963 @default.
- Q32145701 P699 DOID_DOID:0110988 @default.
- Q32145701 P11430 "DI-02621" @default.
- Q32145701 P2293 Q18040132 @default.
- Q32145701 P279 Q1101694 @default.
- Q32145701 P279 Q9390209 @default.
- Q32145701 P2888 DOID:0110988 @default.
- Q32145701 P2888 DOID_0110988 @default.
- Q32145701 P2888 Orphanet_2318 @default.
- Q32145701 P2892 "C1842577" @default.
- Q32145701 P31 Q112193867 @default.
- Q32145701 P31 Q929833 @default.
- Q32145701 P4317 "10167" @default.
- Q32145701 P486 "C536294" @default.
- Q32145701 P492 "608091" @default.
- Q32145701 P5008 Q4099686 @default.
- Q32145701 P5270 "MONDO_0011963" @default.
- Q32145701 P699 "DOID:0110988" @default.