- Autoimmune antibody positivity (HP:0030057, a Human Phenotype Ontology term): The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:562639)
- Interface hepatitis (HP:0032220, a Human Phenotype Ontology term): Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:562639)
- Pruritus (HP:0000989, a Human Phenotype Ontology term): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:562639)
- Elevated circulating hepatic transaminase concentration (HP:0002910, a Human Phenotype Ontology term): 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. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:562639)
- Increased circulating IgG concentration (HP:0003237, a Human Phenotype Ontology term): An abnormally increased level of immunoglobulin G in blood. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:562639)
- Antinuclear antibody positivity (HP:0003493, a Human Phenotype Ontology term): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:562639)
- Abnormal intrahepatic bile duct morphology (HP:0011040, a Human Phenotype Ontology term): An abnormality of the intrahepatic bile duct. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:562639)
- Fatigue (HP:0012378, a Human Phenotype Ontology term): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:562639)
- Anti-glycoprotein-210 antibody positivity (HP:0033562, a Human Phenotype Ontology term): The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:562639)
- Anti-Ro52/TRIM21 antibody positivity (HP:0034093, a Human Phenotype Ontology term): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:562639)
- Anti-p53 antibody positivity (HP:0034107, a Human Phenotype Ontology term): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:562639)
- Anti-Y-box protein-1 antibody positivity (HP:0034108, a Human Phenotype Ontology term): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:562639)
- Anti-Gerbich phenotype 1 antibody positivity (HP:0034110, a Human Phenotype Ontology term): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:562639)
- Anti-MIT3 antibody positivity (HP:0034111, a Human Phenotype Ontology term): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:562639)
- Anti-hexokinase-1 antibody positivity (HP:0034114, a Human Phenotype Ontology term): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:562639)
- Anti-Kelch like protein 12 antibody positivity (HP:0034115, a Human Phenotype Ontology term): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:562639)
- Anti-sp100 antibody positivity (HP:0034155, a Human Phenotype Ontology term): The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:562639)
- Abnormal ductus choledochus morphology (HP:0100889, a Human Phenotype Ontology term): An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:562639)
- Cirrhosis (HP:0001394, a Human Phenotype Ontology term): 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. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:562639)
- Cholestasis (HP:0001396, a Human Phenotype Ontology term): Impairment of bile flow due to obstruction in bile ducts. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:562639)
- Inflammation of the large intestine (HP:0002037, a Human Phenotype Ontology term): Inflammation, or an inflammatory state in the large intestine. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:562639)
- Cholestatic liver disease (HP:0002611, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:562639)
- Arthralgia (HP:0002829, a Human Phenotype Ontology term): Joint pain. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:562639)
- Hyperbilirubinemia (HP:0002904, a Human Phenotype Ontology term): An increased amount of bilirubin in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:562639)
- Elevated circulating alkaline phosphatase concentration (HP:0003155, a Human Phenotype Ontology term): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:562639)
- Anti-smooth muscle antibody positivity (HP:0003262, a Human Phenotype Ontology term): The presence in serum of antibodies against smooth muscle. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:562639)
- Increased circulating IgM concentration (HP:0003496, a Human Phenotype Ontology term): An abnormally increased level of immunoglobulin M in blood. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:562639)
- Interlobular bile duct destruction (HP:0025344, a Human Phenotype Ontology term): Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:562639)
- Antimitochondrial antibody positivity (HP:0030167, a Human Phenotype Ontology term): The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:562639)
- Anti-liver cytosolic antigen type 1 antibody positivity (HP:0030909, a Human Phenotype Ontology term): The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:562639)
- Elevated gamma-glutamyltransferase level (HP:0030948, a Human Phenotype Ontology term): Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:562639)
- Granulomatous cholangitis (HP:0030988, a Human Phenotype Ontology term): Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:562639)
- Sclerosing cholangitis (HP:0030991, a Human Phenotype Ontology term): Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:562639)
- Granuloma (HP:0032252, a Human Phenotype Ontology term): A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:562639)
- Ulcerative colitis (HP:0100279, a Human Phenotype Ontology term): A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:562639)
- Liver kidney microsome type 1 antibody positivity (HP:0030908, a Human Phenotype Ontology term): The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2). Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:562639)
These phenotypes are associated with the disease Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome (ORPHA:562639, an Orphanet rare-disease identifier).