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Entry Name Description Category Pathway Gene
H00863 Spondylo-megaepiphyseal-metaphyseal dysplasia Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare skeletal dysplasia. Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses ... Congenital malformation NKX3-2 [HSA:579] [KO:K09995]
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