- Progressive (HP:0003676): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: TAS. (OMIM:210500)
- Increased total bilirubin (HP:0003573): Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. Evidence: TAS. (OMIM:210500)
- Extrahepatic biliary duct atresia (HP:0005242): Atresia in the extrahepatic bile duct. Evidence: TAS. (OMIM:210500)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. (OMIM:210500)
- Cirrhosis (HP:0001394): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: TAS. (OMIM:210500)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: TAS. (OMIM:210500)
- Polygenic inheritance (HP:0010982): A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. Evidence: TAS. (OMIM:210500)
- Atretic gallbladder (HP:0011984): Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia. Evidence: TAS. (OMIM:210500)
- Acholic stools (HP:0011985): Clay colored stools lacking bile pigment. Evidence: TAS. (OMIM:210500)
- Unconjugated hyperbilirubinemia (HP:0008282): An increased amount of unconjugated (indirect) bilurubin in the blood. Evidence: TAS. (OMIM:210500)
- Portal fibrosis (HP:0006580): Fibroblast proliferation and fiber expansion from the portal areas to the lobule. Evidence: TAS. (OMIM:210500)
- Bile duct proliferation (HP:0001408): Proliferative changes of the bile ducts. Evidence: TAS. (OMIM:210500)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: TAS. (OMIM:210500)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. (OMIM:210500)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. (OMIM:210500)
These phenotypes are associated with the disease extrahepatic biliary atresia (OMIM:210500).