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- B66654ebb06d58d5502a19ce25de16bb0 hasDbXref "Orphanet:324307" @default.
- B66654ebb06d58d5502a19ce25de16bb0 type Axiom @default.
- B66654ebb06d58d5502a19ce25de16bb0 annotatedProperty IAO_0000115 @default.
- B66654ebb06d58d5502a19ce25de16bb0 annotatedSource MONDO_0017927 @default.
- B66654ebb06d58d5502a19ce25de16bb0 annotatedTarget "Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities." @default.