Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B8eb66cffdbb03bdaf7c39cf01e4e2639> ?p ?o ?g. }
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- B8eb66cffdbb03bdaf7c39cf01e4e2639 hasDbXref "Orphanet:742" @default.
- B8eb66cffdbb03bdaf7c39cf01e4e2639 type Axiom @default.
- B8eb66cffdbb03bdaf7c39cf01e4e2639 annotatedProperty IAO_0000115 @default.
- B8eb66cffdbb03bdaf7c39cf01e4e2639 annotatedSource MONDO_0008221 @default.
- B8eb66cffdbb03bdaf7c39cf01e4e2639 annotatedTarget "An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly." @default.