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- B5f7ebf68d9bd205b9ef928fa3eca1c63 hasDbXref "Orphanet:2604" @default.
- B5f7ebf68d9bd205b9ef928fa3eca1c63 type Axiom @default.
- B5f7ebf68d9bd205b9ef928fa3eca1c63 annotatedProperty IAO_0000115 @default.
- B5f7ebf68d9bd205b9ef928fa3eca1c63 annotatedSource MONDO_0016829 @default.
- B5f7ebf68d9bd205b9ef928fa3eca1c63 annotatedTarget "A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." @default.