Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B5bd0b0c25edab963673e12a301ab5ec6> ?p ?o ?g. }
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- B5bd0b0c25edab963673e12a301ab5ec6 hasDbXref "Orphanet:1830" @default.
- B5bd0b0c25edab963673e12a301ab5ec6 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B5bd0b0c25edab963673e12a301ab5ec6 type Axiom @default.
- B5bd0b0c25edab963673e12a301ab5ec6 annotatedProperty IAO_0000115 @default.
- B5bd0b0c25edab963673e12a301ab5ec6 annotatedSource MONDO_0009458 @default.
- B5bd0b0c25edab963673e12a301ab5ec6 annotatedTarget "A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." @default.