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- Bec75f9be6b773e91c3d604435ea4f6a5 NCIT_P378 "NCI" @default.
- Bec75f9be6b773e91c3d604435ea4f6a5 type Axiom @default.
- Bec75f9be6b773e91c3d604435ea4f6a5 annotatedProperty IAO_0000115 @default.
- Bec75f9be6b773e91c3d604435ea4f6a5 annotatedSource NCIT_C101039 @default.
- Bec75f9be6b773e91c3d604435ea4f6a5 annotatedTarget "A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant." @default.