Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B6ac1bcb8cc6c6d97fc8a81e470e652c3> ?p ?o ?g. }
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- B6ac1bcb8cc6c6d97fc8a81e470e652c3 hasDbXref "Orphanet:251262" @default.
- B6ac1bcb8cc6c6d97fc8a81e470e652c3 type Axiom @default.
- B6ac1bcb8cc6c6d97fc8a81e470e652c3 annotatedProperty IAO_0000115 @default.
- B6ac1bcb8cc6c6d97fc8a81e470e652c3 annotatedSource MONDO_0100462 @default.
- B6ac1bcb8cc6c6d97fc8a81e470e652c3 annotatedTarget "A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." @default.