Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B30dd5b33d312e6afe7fc64fd91f9c6e1> ?p ?o ?g. }
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- B30dd5b33d312e6afe7fc64fd91f9c6e1 hasDbXref "Orphanet:84064" @default.
- B30dd5b33d312e6afe7fc64fd91f9c6e1 type Axiom @default.
- B30dd5b33d312e6afe7fc64fd91f9c6e1 annotatedProperty IAO_0000115 @default.
- B30dd5b33d312e6afe7fc64fd91f9c6e1 annotatedSource MONDO_0009105 @default.
- B30dd5b33d312e6afe7fc64fd91f9c6e1 annotatedTarget "A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." @default.