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- B3e0150554fe8a60315a32cdc39d0e528 hasDbXref "Orphanet:166038" @default.
- B3e0150554fe8a60315a32cdc39d0e528 type Axiom @default.
- B3e0150554fe8a60315a32cdc39d0e528 annotatedProperty IAO_0000115 @default.
- B3e0150554fe8a60315a32cdc39d0e528 annotatedSource MONDO_0009594 @default.
- B3e0150554fe8a60315a32cdc39d0e528 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.