Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bb093910ef837645bb49051d85f16c00b> ?p ?o ?g. }
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- Bb093910ef837645bb49051d85f16c00b hasDbXref "Orphanet:93352" @default.
- Bb093910ef837645bb49051d85f16c00b hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- Bb093910ef837645bb49051d85f16c00b type Axiom @default.
- Bb093910ef837645bb49051d85f16c00b annotatedProperty IAO_0000115 @default.
- Bb093910ef837645bb49051d85f16c00b annotatedSource MONDO_0011252 @default.
- Bb093910ef837645bb49051d85f16c00b annotatedTarget "A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." @default.