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- Bd8d923a960f8eefd042bfc7f456893d9 hasDbXref "Orphanet:93304" @default.
- Bd8d923a960f8eefd042bfc7f456893d9 type Axiom @default.
- Bd8d923a960f8eefd042bfc7f456893d9 annotatedProperty IAO_0000115 @default.
- Bd8d923a960f8eefd042bfc7f456893d9 annotatedSource MONDO_0007232 @default.
- Bd8d923a960f8eefd042bfc7f456893d9 annotatedTarget "Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood." @default.