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- B5ac5250b039f282d2c07af7377b005d8 hasDbXref "Wikipedia:Rosselli%E2%80%93Gulienetti_syndrome" @default.
- B5ac5250b039f282d2c07af7377b005d8 type Axiom @default.
- B5ac5250b039f282d2c07af7377b005d8 annotatedProperty IAO_0000115 @default.
- B5ac5250b039f282d2c07af7377b005d8 annotatedSource MONDO_0009148 @default.
- B5ac5250b039f282d2c07af7377b005d8 annotatedTarget "A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene" @default.