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- Ba897869a9c7880f5501cac6c24d80375 hasDbXref "Orphanet:2155" @default.
- Ba897869a9c7880f5501cac6c24d80375 type Axiom @default.
- Ba897869a9c7880f5501cac6c24d80375 annotatedProperty IAO_0000115 @default.
- Ba897869a9c7880f5501cac6c24d80375 annotatedSource MONDO_0009342 @default.
- Ba897869a9c7880f5501cac6c24d80375 annotatedTarget "An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988." @default.