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- Bf03622282975e37442e429df82e0bafe NCIT_P378 "NCI" @default.
- Bf03622282975e37442e429df82e0bafe type Axiom @default.
- Bf03622282975e37442e429df82e0bafe annotatedProperty IAO_0000115 @default.
- Bf03622282975e37442e429df82e0bafe annotatedSource NCIT_C135088 @default.
- Bf03622282975e37442e429df82e0bafe annotatedTarget "An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia." @default.