Diseases · Entity Annotation Prototype (beta)

2articles mentioning diseases

3disease mentions

1distinct diseases extracted

0%of mentions human-reviewed

Active filtersEntity: neonatal cholestasis ×

neonatal cholestasis

This disease is selected. Its supporting articles are shown below.

neonatal cholestasis2

Articles mentioning neonatal cholestasis

2 articles · page 1 of 1

Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations

jmedgenet · abstract · 2025-09-19 · 2 matching annotations

85.2%

hepatorenocardiac degenerative fibrosis hypertrophic cardiomyopathy fibrocystic kidney disease liver fibrosis attention deficit hyperactivity disorder neonatal cholestasis portal hypertension liver transplantation Met404Arg

…LP3 variants have been associated with a novel ciliopathy named hepatorenocardiac degenerative fibrosis, which is characterised by hepatic fibrosis in childhood or ear…

OC31 Triaging infantile cholestasis: validation of non-invasive diagnostic modalities and a composite scoring system for early detection of biliary atresia

flgastro · abstract · 2026-06-29 · 1 matching annotations

92.6%

Biliary Atresia neonatal cholestasis BA Kasai portoenterostomy tertiary hepatobiliary centres