Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B4759a6bd60b995cfbb6290407397df8e> ?p ?o ?g. }
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- B4759a6bd60b995cfbb6290407397df8e hasDbXref "Orphanet:93316" @default.
- B4759a6bd60b995cfbb6290407397df8e type Axiom @default.
- B4759a6bd60b995cfbb6290407397df8e annotatedProperty IAO_0000115 @default.
- B4759a6bd60b995cfbb6290407397df8e annotatedSource MONDO_0008478 @default.
- B4759a6bd60b995cfbb6290407397df8e annotatedTarget "Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." @default.