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Entry | Name | Description | Category | Pathway | Gene |
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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |