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- Q55788781 description "Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development" @default.
- Q55788781 name "Pfeiffer syndrome type 1" @default.
- Q55788781 type Item @default.
- Q55788781 label "Pfeiffer syndrome type 1" @default.
- Q55788781 altLabel "Classic Pfeiffer syndrome" @default.
- Q55788781 prefLabel "Pfeiffer syndrome type 1" @default.
- Q55788781 P1550 Q55788781-76750862-8021-4914-A7E8-63F0CEE53B49 @default.
- Q55788781 P2293 Q55788781-5C4E7AC1-AFBC-4241-B830-DA202067797E @default.
- Q55788781 P2888 Q55788781-7C423A6B-17FF-4275-AEB2-222CA7BC53B5 @default.
- Q55788781 P2892 Q55788781-2A06A047-AE61-4571-AF5D-E0CD76A26B64 @default.
- Q55788781 P31 Q55788781-624B403B-A25E-4AB3-90A4-06D2C674FDC6 @default.
- Q55788781 P31 Q55788781-D77C8ADF-66A0-44FF-A395-B60B028D916C @default.
- Q55788781 P4229 Q55788781-B89926C2-2C9C-4ACE-AEEF-FB26FCA4BCF8 @default.
- Q55788781 P5270 Q55788781-C3437D0F-961E-4BE7-8EFF-F77AB96796F7 @default.
- Q55788781 P5270 MONDO_0019659 @default.
- Q55788781 P1550 "93258" @default.
- Q55788781 P2293 Q14914258 @default.
- Q55788781 P2888 Orphanet_93258 @default.
- Q55788781 P2892 "C5438812" @default.
- Q55788781 P31 Q112193867 @default.
- Q55788781 P31 Q55788864 @default.
- Q55788781 P4229 "Q87.0" @default.
- Q55788781 P5270 "MONDO_0019659" @default.