biliary atresia
MONDO:0008867Mondo
Findings
No curated finding names biliary atresia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occurring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.
Definition from the Mondo Disease Ontology (MONDO:0008867), read 2026-09-29. CC BY 4.0.
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CholestasisHPOHP:0001396
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- JaundiceHPOHP:0000952
- Very frequent (80% to 99% of cases)
- Acholic stoolsHPOHP:0011985
- Frequent (30% to 79% of cases)
- Atretic gallbladderHPOHP:0011984
- Frequent (30% to 79% of cases)
- Conjugated hyperbilirubinemiaHPOHP:0002908
- Frequent (30% to 79% of cases)
- Dark yellow urineHPOHP:0040321
- Frequent (30% to 79% of cases)
- Decreased liver functionHPOHP:0001410
- Frequent (30% to 79% of cases)
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- Frequent (30% to 79% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Frequent (30% to 79% of cases)
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- Frequent (30% to 79% of cases)
- Fat malabsorptionHPOHP:0002630
- Frequent (30% to 79% of cases)
Show the remaining 17
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
- Prolonged neonatal jaundiceHPOHP:0006579
- Frequent (30% to 79% of cases)
- Prolonged prothrombin timeHPOHP:0008151
- Frequent (30% to 79% of cases)
- Severe failure to thriveHPOHP:0001525
- Frequent (30% to 79% of cases)
- Abnormal facial shapeHPOHP:0001999
- Occasional (5% to 29% of cases)
- Bile duct proliferationHPOHP:0001408
- Occasional (5% to 29% of cases)
Where it sits
Other names
5 names
Resolves to: biliary atresia
- Also called
- atresia of bile ductsbiliary atresia, congenitalcongenital biliary atresiaisolated atresia of bile ductsnon-syndromic biliary atresia