has material basis in germline mutation in DCDC2 hereditary disease sclerosing cholangitis isolated neonatal sclerosing cholangitis https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/isolated_neonatal_sclerosing_cholangitis https://www.malacards.org/card/sclerosing_cholangitis_neonatal MONDO:0018816 UMLS:C4479344 OMIM:617394 GARD:0021983 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. sclerosing cholangitis, neonatal Orphanet:480556 NSC MEDGEN:1393230