Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bb58a75c2e692fcd581c497237b42a8cf> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bb58a75c2e692fcd581c497237b42a8cf hasDbXref "Orphanet:480556" @default.
- Bb58a75c2e692fcd581c497237b42a8cf type Axiom @default.
- Bb58a75c2e692fcd581c497237b42a8cf annotatedProperty IAO_0000115 @default.
- Bb58a75c2e692fcd581c497237b42a8cf annotatedSource MONDO_0018816 @default.
- Bb58a75c2e692fcd581c497237b42a8cf annotatedTarget "Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease." @default.