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- Be352a49869a4d7664607f95dd7eaf532 hasDbXref "Orphanet:166038" @default.
- Be352a49869a4d7664607f95dd7eaf532 type Axiom @default.
- Be352a49869a4d7664607f95dd7eaf532 annotatedProperty IAO_0000115 @default.
- Be352a49869a4d7664607f95dd7eaf532 annotatedSource MONDO_0009594 @default.
- Be352a49869a4d7664607f95dd7eaf532 annotatedTarget "Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982." @default.