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Entry Name Description Category Pathway Gene
H00968 Raine syndrome
Lethal osteosclerotic bone dysplasia
Raine syndrome or lethal osteosclerotic bone dysplasia is an autosomal recessive disorder characterized by generalized osteosclerosis and characteristic facial dysmorphism. Death in the neonatal period ... Congenital malformation FAM20C [HSA:56975] [KO:K21958]
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