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- Bb9738374bf6ba7c7ef869e7abe82799f hasDbXref "Orphanet:99647" @default.
- Bb9738374bf6ba7c7ef869e7abe82799f type Axiom @default.
- Bb9738374bf6ba7c7ef869e7abe82799f annotatedProperty IAO_0000115 @default.
- Bb9738374bf6ba7c7ef869e7abe82799f annotatedSource MONDO_0020474 @default.
- Bb9738374bf6ba7c7ef869e7abe82799f annotatedTarget "Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability." @default.