Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bf144ed1dd416803b55e66136f368af2d> ?p ?o ?g. }
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- Bf144ed1dd416803b55e66136f368af2d hasDbXref "Orphanet:156728" @default.
- Bf144ed1dd416803b55e66136f368af2d hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- Bf144ed1dd416803b55e66136f368af2d type Axiom @default.
- Bf144ed1dd416803b55e66136f368af2d annotatedProperty IAO_0000115 @default.
- Bf144ed1dd416803b55e66136f368af2d annotatedSource MONDO_0012108 @default.
- Bf144ed1dd416803b55e66136f368af2d annotatedTarget "A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." @default.