cholestasis
MONDO:0001751Mondo
Findings
No curated finding names cholestasis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system.
Definition from the Mondo Disease Ontology (MONDO:0001751), read 2026-09-29. CC BY 4.0.
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KIF12HGNC:21495
- Definitive · King Faisal Specialist Hospital and Research Center · Autosomal recessive · 2021
- USP53HGNC:29255
- Strong · Ambry Genetics · Autosomal recessive · 2020
- PLECHGNC:9069
- Limited · Ambry Genetics · Autosomal recessive · 2024
- PPM1FHGNC:19388
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: cholestasis
- Also called
- obstruction of bile duct