isolated neonatal sclerosing cholangitis

Go to external page http://purl.obolibrary.org/obo/MONDO_0018816


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. [ Orphanet:480556 ]

This is just here as a test because I lose it

Term information

database cross reference
Subsets

ordo_disease

definition

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.

exactMatch

http://linkedlifedata.com/resource/umls/id/C4479344

http://www.orpha.net/ORDO/Orphanet_480556

http://identifiers.org/omim/617394

has related synonym

sclerosing cholangitis, neonatal

NSC

id

MONDO:0018816