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- B3fdbd174b5ddc82695478525e52b77de hasDbXref "Orphanet:33067" @default.
- B3fdbd174b5ddc82695478525e52b77de type Axiom @default.
- B3fdbd174b5ddc82695478525e52b77de annotatedProperty IAO_0000115 @default.
- B3fdbd174b5ddc82695478525e52b77de annotatedSource MONDO_0007982 @default.
- B3fdbd174b5ddc82695478525e52b77de annotatedTarget "Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia." @default.