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- Bea58f2755e93839ecb1c6f5d6163d6f2 hasDbXref "Orphanet:1190" @default.
- Bea58f2755e93839ecb1c6f5d6163d6f2 type Axiom @default.
- Bea58f2755e93839ecb1c6f5d6163d6f2 annotatedProperty IAO_0000115 @default.
- Bea58f2755e93839ecb1c6f5d6163d6f2 annotatedSource MONDO_0007167 @default.
- Bea58f2755e93839ecb1c6f5d6163d6f2 annotatedTarget "Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." @default.