Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bb466ad4a2b34ebfac0ec8455b626df82> ?p ?o ?g. }
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- Bb466ad4a2b34ebfac0ec8455b626df82 hasDbXref "Orphanet:93356" @default.
- Bb466ad4a2b34ebfac0ec8455b626df82 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- Bb466ad4a2b34ebfac0ec8455b626df82 type Axiom @default.
- Bb466ad4a2b34ebfac0ec8455b626df82 annotatedProperty IAO_0000115 @default.
- Bb466ad4a2b34ebfac0ec8455b626df82 annotatedSource MONDO_0011198 @default.
- Bb466ad4a2b34ebfac0ec8455b626df82 annotatedTarget "A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." @default.