{ "id": 6878, "label": "liver disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005154", "properties": { "xrefs": [ "DOID:409", "EFO:0001421", "ICD10CM:K70-K77", "ICD9:573.8", "ICD9:573.9", "MEDGEN:893061", "MESH:D008107", "NCIT:C3196", "SCTID:235856003", "UMLS:C4021780", "icd11.foundation:1784240230" ], "synonyms": [ "disease of liver", "disease or disorder of liver", "disorder of liver", "hepatic disease", "hepatic disorder", "liver and intrahepatic bile duct disorder", "liver disease", "liver disease or disorder", "liver disorder" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disease involving the liver." }, "isLeaf": false, "isRoot": false, "child_count": 32, "parents": [ { "id": 4586, "label": "hepatobiliary disorder", "isLeaf": false, "isRoot": false, "parents": [ 6151 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3118", "EFO:0010284", "MEDGEN:82758", "NCIT:C3959", "UMLS:C0267792" ], "synonyms": [ "disease of hepatobiliary system", "disease or disorder of hepatobiliary system", "disorder of hepatobiliary system", "hepatobiliary disorder", "hepatobiliary system disease", "hepatobiliary system disease or disorder", "liver and biliary disease", "liver and biliary disorder", "liver and biliary system disorder" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma." }, "child_count": 4, "reference_id": "MONDO:0002515" }, { "id": 6875, "label": "endocrine system disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:28", "EFO:0001379", "ICD9:259.8", "ICD9:259.9", "MEDGEN:4043", "MESH:D004700", "NANDO:1100009", "NANDO:2100109", "NCIT:C3009", "SCTID:362969004", "UMLS:C0014130" ], "synonyms": [ "disease of endocrine system", "disease or disorder of endocrine system", "disorder of endocrine system", "endocrine disease", "endocrine disorder", "endocrine system disease", "endocrine system disease or disorder", "endocrine system disorder", "endocrinopathy", "thyroid or other glandular disorders" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disease involving the endocrine system." }, "child_count": 48, "reference_id": "MONDO:0005151" } ], "children": [ { "id": 2817, "label": "polycystic echinococcosis", "isLeaf": true, "isRoot": false, "parents": [ 6878, 7360, 23208 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050218" ], "synonyms": [ "human polycystic hydatid disease", "neotropical echinococcosis" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0000288" }, { "id": 2911, "label": "autosomal dominant polycystic liver disease", "isLeaf": false, "isRoot": false, "parents": [ 2903, 6878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050770", "GARD:0009457", "HP:0006557", "ICD10CM:Q44.6", "ICD9:751.62", "MEDGEN:56388", "MedDRA:10010427", "MedDRA:10048834", "MedDRA:10083939", "NCIT:C82833", "OMIMPS:174050", "Orphanet:2924", "SCTID:72925005", "UMLS:C0158683", "icd11.foundation:1361740083", "icd11.foundation:423904268" ], "synonyms": [ "AD polycystic liver disease", "ADPLD", "PCLD", "isolated congenital polycystic liver disease", "isolated polycystic liver disease", "polycystic liver disease", "congenital cystic liver disease", "congenital hepatic cyst", "fibrocystic liver disease" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver." }, "child_count": 10, "reference_id": "MONDO:0000447" }, { "id": 3604, "label": "hepatorenal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11823", "ICD10CM:K76.7", "ICD9:572.4", "MEDGEN:9224", "MESH:D006530", "NCIT:C113400", "SCTID:51292008", "UMLS:C0019212", "icd11.foundation:1015890899" ], "synonyms": [ "hepato-renal syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant." }, "child_count": 0, "reference_id": "MONDO:0001382" }, { "id": 4367, "label": "hepatitis", "isLeaf": false, "isRoot": false, "parents": [ 6878, 20399 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2237", "ICD9:570", "ICD9:571.4", "ICD9:571.40", "ICD9:571.41", "MEDGEN:5515", "MESH:D006505", "NCIT:C3095", "SCTID:197268000", "UMLS:C0019158" ], "synonyms": [ "Hepatitis", "hepatitis", "inflammation of liver", "liver inflammation", "acute and subacute liver necrosis", "acute hepatitis", "acute/subac. necrosis of liver", "animal hepatitis", "chronic hepatitis", "chronic persistent hepatitis", "Hepatitides" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders." }, "child_count": 18, "reference_id": "MONDO:0002251" }, { "id": 4495, "label": "hepatic vascular disorder", "isLeaf": false, "isRoot": false, "parents": [ 6878, 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:272", "ICD9:573.8", "MEDGEN:140779", "NCIT:C35442", "SCTID:235878005", "UMLS:C0400923" ], "synonyms": [ "hepatic vascular disorder", "liver vascular disorder" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma." }, "child_count": 22, "reference_id": "MONDO:0002405" }, { "id": 4591, "label": "hepatic porphyria", "isLeaf": false, "isRoot": false, "parents": [ 6878, 22990 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3133", "GARD:0019255", "GTR:AN0932921", "MEDGEN:58119", "MESH:D017094", "Orphanet:659694", "SCTID:55056006", "UMLS:C0162533" ], "synonyms": [ "ALAD deficiency", "Delta-aminolevulinate dehydratase deficiency", "hepatic porphyria", "liver porphyria", "porphobilinogen synthase deficiency", "porphyria of liver", "acute hepatic porphyria", "acute porphyria", "hepatic Porphyrias", "porphyria, hepatic" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues." }, "child_count": 14, "reference_id": "MONDO:0002520" }, { "id": 6474, "label": "hepatopulmonary syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:900", "EFO:1001346", "ICD10CM:K76.81", "ICD9:417.8", "ICD9:573.5", "MEDGEN:109071", "MESH:D020065", "SCTID:371067004", "UMLS:C0600452", "icd11.foundation:866605228" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases." }, "child_count": 0, "reference_id": "MONDO:0004694" }, { "id": 6557, "label": "fatty liver disease", "isLeaf": false, "isRoot": false, "parents": [ 6878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9452", "ICD9:571.8", "MEDGEN:398225", "MESH:D005234", "SCTID:197321007", "SCTID:371330000", "UMLS:C2711227" ], "synonyms": [ "fatty liver" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis." }, "child_count": 4, "reference_id": "MONDO:0004790" }, { "id": 6879, "label": "cirrhosis of liver", "isLeaf": false, "isRoot": false, "parents": [ 6878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5082", "EFO:0001422", "ICD9:571.5", "MEDGEN:7368", "MESH:D008103", "NANDO:2100268", "NANDO:2200937", "NCIT:C2951", "SCTID:19943007", "UMLS:C0023890" ], "synonyms": [ "cirrhosis", "liver cirrhosis" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." }, "child_count": 3, "reference_id": "MONDO:0005155" }, { "id": 7043, "label": "drug-induced liver injury", "isLeaf": false, "isRoot": false, "parents": [ 6878 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0004228", "MEDGEN:163652", "MESH:D056486", "SCTID:197352008", "UMLS:C0860207" ], "synonyms": [ "drug induced hepatotoxicity", "drug-induced disorder of liver" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment." }, "child_count": 1, "reference_id": "MONDO:0005359" }, { "id": 8071, "label": "perinatal jaundice due to hepatocellular damage", "isLeaf": true, "isRoot": false, "parents": [ 6878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11452", "ICD9:774.4", "MEDGEN:510683", "SCTID:10877007", "UMLS:C0158976" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Jaundice in perinates due to cellular damage of liver." }, "child_count": 0, "reference_id": "MONDO:0006595" }, { "id": 10224, "label": "Aagenaes syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6878, 19049 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6691", "GARD:0000370", "ICD9:576.8", "MEDGEN:78658", "MESH:C535330", "NCIT:C35709", "OMIM:214900", "Orphanet:1414", "SCTID:28724005", "UMLS:C0268314" ], "synonyms": [ "Aagenaes syndrome", "Chls", "LCS", "LCS1", "cholestasis lymphedema syndrome", "cholestasis-lymphedema syndrome", "lymphedema cholestasis syndrome", "lymphedema-cholestasis syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life." }, "child_count": 0, "reference_id": "MONDO:0008966" }, { "id": 10615, "label": "transient familial neonatal hyperbilirubinemia", "isLeaf": true, "isRoot": false, "parents": [ 4498, 6878 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002791", "MEDGEN:75718", "MESH:C562692", "OMIM:237900", "Orphanet:2312", "UMLS:C0270210" ], "synonyms": [ "Lucey-Driscoll syndrome", "hyperbilirubinemia, familial transient neonatal", "HBLRTFN", "breast milk jaundice", "hyperbilirubinemia transient familial neonatal", "hyperbilirubinemia, transient familial neonatal", "transient familial hyperbilirubinemia" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009383" }, { "id": 14622, "label": "hyperbiliverdinemia", "isLeaf": true, "isRoot": false, "parents": [ 5714, 6878 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017279", "MEDGEN:481594", "OMIM:614156", "Orphanet:276405", "UMLS:C3279964" ], "synonyms": [ "green jaundice", "hyperbiliverdinemia", "HBLVD" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported." }, "child_count": 0, "reference_id": "MONDO:0013595" }, { "id": 14789, "label": "transient infantile hypertriglyceridemia and hepatosteatosis", "isLeaf": true, "isRoot": false, "parents": [ 5714, 6878 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017363", "MEDGEN:482583", "OMIM:614480", "Orphanet:300293", "UMLS:C3280953" ], "synonyms": [ "transient infantile hypertriglyceridemia and fatty liver", "transient infantile hypertriglyceridemia and hepatosteatosis", "HTGTI", "hypertriglyceridemia, transient infantile" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013771" }, { "id": 16788, "label": "idiopathic copper-associated cirrhosis", "isLeaf": true, "isRoot": false, "parents": [ 6878, 24405 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017106", "MEDGEN:907284", "Orphanet:209919", "SCTID:715864007", "UMLS:C4274853", "icd11.foundation:1692504835" ], "synonyms": [ "non-Wilsonian hepatic copper toxicosis of infancy and childhood" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining." }, "child_count": 0, "reference_id": "MONDO:0016204" }, { "id": 17613, "label": "familial intrahepatic cholestasis", "isLeaf": false, "isRoot": false, "parents": [ 6878, 18954, 18964 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021119", "ICD9:576.8", "Orphanet:284385", "SCTID:74162007" ], "synonyms": [ "hereditary intrahepatic cholestasis" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome." }, "child_count": 12, "reference_id": "MONDO:0017290" }, { "id": 18750, "label": "bile duct cyst", "isLeaf": true, "isRoot": false, "parents": [ 4900, 5714, 6878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:899", "GARD:0021973", "ICD10CM:Q44.4", "ICD9:576.8", "ICD9:751.69", "MEDGEN:3037", "MESH:D015529", "OMIM:603003", "Orphanet:480501", "SCTID:397868007", "UMLS:C0008340", "icd11.foundation:819487805" ], "synonyms": [ "bile duct cysts", "choledochal cyst", "choledochal cysts", "choledochocele", "congenital cystic dilatation of the biliary tract" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Cystic dilatation of the hepatic duct or bile duct." }, "child_count": 0, "reference_id": "MONDO:0018805" }, { "id": 18772, "label": "nodular regenerative hyperplasia of the liver", "isLeaf": true, "isRoot": false, "parents": [ 6878, 23885 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010929", "ICD9:573.8", "MEDGEN:1830387", "Orphanet:48372", "SCTID:715140008", "UMLS:C5779783", "icd11.foundation:1642018758" ], "synonyms": [ "non-cirrhotic nodulation", "miliary hepatocellular adenomatosis", "nodular regenerative hyperplasia", "non-cirrhotic nodular transformation", "non-cirrhotic portal hypertension" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins." }, "child_count": 0, "reference_id": "MONDO:0018835" }, { "id": 18907, "label": "hepatoportal sclerosis", "isLeaf": true, "isRoot": false, "parents": [ 6878 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018865", "MEDGEN:1391122", "Orphanet:64743", "SCTID:718096004", "UMLS:C4476911" ], "synonyms": [ "obliterative portal venopathy" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding." }, "child_count": 0, "reference_id": "MONDO:0018991" }, { "id": 19258, "label": "primitive portal vein thrombosis", "isLeaf": true, "isRoot": false, "parents": [ 6878 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018707", "MEDGEN:1876652", "MedDRA:10036206", "Orphanet:854", "UMLS:C6012228" ], "synonyms": [ "non-cirrhotic portal vein thrombosis" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system." }, "child_count": 0, "reference_id": "MONDO:0019431" }, { "id": 20101, "label": "glycogen storage disease due to liver phosphorylase kinase deficiency", "isLeaf": false, "isRoot": false, "parents": [ 4502, 6878 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017261", "Orphanet:264580" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." }, "child_count": 4, "reference_id": "MONDO:0020693" }, { "id": 21432, "label": "liver and intrahepatic bile duct neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4223, 4585, 6878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:916", "MEDGEN:232599", "NCIT:C7103", "NCIT:C7106", "ONCOTREE:LIVER", "SCTID:126851005", "UMLS:C1333976" ], "synonyms": [ "epithelial hepatic and intrahepatic bile duct neoplasm", "hepatic and intrahepatic bile duct neoplasm", "liver and intrahepatic bile duct epithelial neoplasm", "liver and intrahepatic bile duct neoplasm", "liver neoplasm", "liver neoplasm (disease)", "liver tumor", "liver tumour", "neoplasm of liver", "tumor of liver", "tumour of liver" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma." }, "child_count": 51, "reference_id": "MONDO:0024477" }, { "id": 23236, "label": "alcoholic liver disease", "isLeaf": false, "isRoot": false, "parents": [ 6878, 20730 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070658", "EFO:0008573", "ICD10CM:K70", "MEDGEN:9793", "MESH:D008108", "NCIT:C34783", "SCTID:41309000", "UMLS:C0023896", "icd11.foundation:469481605" ], "synonyms": [ "alcoholic liver disease", "alcoholic liver diseases", "alcoholic liver damage", "liver disease, alcoholic" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis." }, "child_count": 6, "reference_id": "MONDO:0043693" }, { "id": 23364, "label": "early-onset familial noncirrhotic portal hypertension", "isLeaf": true, "isRoot": false, "parents": [ 6878 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:494348" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044631" }, { "id": 23933, "label": "liver failure", "isLeaf": false, "isRoot": false, "parents": [ 6878 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:88444", "MESH:D017093", "NCIT:C26922", "UMLS:C0085605" ], "synonyms": [ "hepatic failure" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A liver disease characterized by the liver losing or has lost all of its function." }, "child_count": 3, "reference_id": "MONDO:0100192" }, { "id": 24157, "label": "fibrotic liver disease", "isLeaf": true, "isRoot": false, "parents": [ 6878 ], "type_id": 0, "properties": { "synonyms": [ "hepatic fibrosis (disease)", "liver fibrosis (disease)" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A liver disease characterized by the presence of excessive fibrous connective tissue in the liver." }, "child_count": 0, "reference_id": "MONDO:0100430" }, { "id": 24337, "label": "intestinal failure–associated liver disease", "isLeaf": true, "isRoot": false, "parents": [ 6878 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Liver disease found in patients on parenteral nutrition for intestinal failure. May develop with few clinical features." }, "child_count": 0, "reference_id": "MONDO:0100615" }, { "id": 24447, "label": "liver abscess (disease)", "isLeaf": true, "isRoot": false, "parents": [ 6878, 6939, 23208 ], "type_id": 0, "properties": { "xrefs": [ "ICD10CM:K75.0", "NCIT:C99089", "SCTID:27916005", "icd11.foundation:1323593849" ], "synonyms": [ "abscess of liver", "hepatic abscess" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "An abscess that involves the liver." }, "child_count": 0, "reference_id": "MONDO:0700051" }, { "id": 24923, "label": "membranous obstruction of inferior vena cava", "isLeaf": true, "isRoot": false, "parents": [ 6878 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:107472", "UMLS:C0546323" ], "synonyms": [ "MOVC" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0800322" }, { "id": 25411, "label": "liver disease, severe congenital", "isLeaf": true, "isRoot": false, "parents": [ 5714, 6878 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1823968", "OMIM:619991", "UMLS:C5774195" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859273" }, { "id": 29378, "label": "cystic fibrosis-related liver disease", "isLeaf": true, "isRoot": false, "parents": [ 6878 ], "type_id": 0, "properties": { "synonyms": [ "CF liver disease", "CF-related liver disease", "CFLD" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A liver disorder that arises as a consequence of cystic fibrosis. Cystic fibrosis-related liver disease encompasses a spectrum of hepatobiliary abnormalities caused by CFTR dysfunction in cholangiocytes, including focal biliary cirrhosis, multilobular biliary cirrhosis, hepatic steatosis, and cholangiopathy. It is a significant cause of non-pulmonary morbidity and mortality in CF, affecting approximately 5-10% of CF patients." }, "child_count": 0, "reference_id": "MONDO:7770005" } ], "roots": [ { "id": 4586, "label": "hepatobiliary disorder" }, { "id": 6875, "label": "endocrine system disorder" } ] }