Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bcc661f87b64a4c26bdd3350447e4c1c8> ?p ?o ?g. }
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- Bcc661f87b64a4c26bdd3350447e4c1c8 hasDbXref "Orphanet:329242" @default.
- Bcc661f87b64a4c26bdd3350447e4c1c8 type Axiom @default.
- Bcc661f87b64a4c26bdd3350447e4c1c8 annotatedProperty IAO_0000115 @default.
- Bcc661f87b64a4c26bdd3350447e4c1c8 annotatedSource MONDO_0014375 @default.
- Bcc661f87b64a4c26bdd3350447e4c1c8 annotatedTarget "Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema." @default.