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- Ba4a06bf2f74e5a0fbca64a247e81ffdc hasDbXref "Orphanet:1240" @default.
- Ba4a06bf2f74e5a0fbca64a247e81ffdc type Axiom @default.
- Ba4a06bf2f74e5a0fbca64a247e81ffdc annotatedProperty IAO_0000115 @default.
- Ba4a06bf2f74e5a0fbca64a247e81ffdc annotatedSource MONDO_0009592 @default.
- Ba4a06bf2f74e5a0fbca64a247e81ffdc annotatedTarget "Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." @default.