Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bd85040896769c6f28d075d08721b0d47> ?p ?o ?g. }
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- Bd85040896769c6f28d075d08721b0d47 hasDbXref "Orphanet:156728" @default.
- Bd85040896769c6f28d075d08721b0d47 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- Bd85040896769c6f28d075d08721b0d47 type Axiom @default.
- Bd85040896769c6f28d075d08721b0d47 annotatedProperty IAO_0000115 @default.
- Bd85040896769c6f28d075d08721b0d47 annotatedSource MONDO_0012108 @default.
- Bd85040896769c6f28d075d08721b0d47 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.