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Upington disease
MONDO:0008624Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.
Also known as: Upington disease, hip dysplasia-enchondromata-ecchondroma syndrome, Perthes-like hip disease, enchondromata, and Ecchondromata, familial dyschondroplasia
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