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- B6996f4c4493affec27ccb31e8c836a49 hasDbXref "Orphanet:15" @default.
- B6996f4c4493affec27ccb31e8c836a49 type Axiom @default.
- B6996f4c4493affec27ccb31e8c836a49 annotatedProperty IAO_0000115 @default.
- B6996f4c4493affec27ccb31e8c836a49 annotatedSource MONDO_0007037 @default.
- B6996f4c4493affec27ccb31e8c836a49 annotatedTarget "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." @default.