gallbladder neuroendocrine neoplasm

description: A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).


laryngotracheoesophageal cleft type 2

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.


name: maturity-onset diabetes of the young type 9

description: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene.


hereditary gastric cancer

description: Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome.


name: autoimmune disorder of gastrointestinal tract

description: A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system.


gastric papillary adenocarcinoma

description: A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores.


GCGR-related hyperglucagonemia

description: A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.


congenital sodium diarrhea

description: Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.


accessory pancreas

description: Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.


atresia of small intestine

description: Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases.


uvula cancer

description: A malignant neoplasm involving the palatine uvula.


colorectal juvenile polyp

description: A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.


inflammatory bowel disease 11

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22.


hepatoportal sclerosis

description: 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.


ascending cholangitis

description: Acute infection of the bile ducts caused by bacteria ascending from the small intestine.


carcinoma of duodenum

description: A carcinoma that involves the duodenum.


malignant tumor of floor of mouth

description: A cancer that involves the mouth floor.


biliary tract neoplasm

description: A neoplasm that involves the biliary tract.


rectal disorder

description: A disease that involves the rectum.


name: pyloric stenosis, infantile hypertrophic, 1


polyposis syndrome, hereditary mixed, 2

description: Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene.


abetalipoproteinemia

description: Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.


necrotizing enterocolitis

description: Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death.


colon sessile serrated adenoma/polyp

description: A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability.


anal margin carcinoma

description: A carcinoma that arises from epithelial cells of the perianal skin


Waldeyer's ring cancer

description: A malignant neoplasm involving the tonsillar ring.


ketamine-induced biliary dilatation

description: Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.


Lynch syndrome 5

description: Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene.


adenosquamous bile duct carcinoma

description: An adenosquamous carcinoma that arises from the bile ducts.


intestine carcinoma in situ

description: A carcinoma in situ involving a intestine.


description: Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.


intrahepatic cholestasis of pregnancy

description: A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.


name: diarrhea 10, protein-losing enteropathy type


name: malignant neoplasm of thoracic esophagus

description: A cancer that involves the thoracic part of esophagus.


hyperplastic polyposis syndrome

description: Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.


name: colon small cell neuroendocrine carcinoma

description: An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells.


superior mesenteric artery syndrome

description: Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment.


cirrhosis, familial

description: Cirrhosis in which no causative agent can be identified.


pericholangitis

description: Inflammation of the tissue surrounding the biliary ducts.


peptic ulcer perforation

description: Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity.


name: congenital enterocyte heparan sulfate deficiency

description: Congenital enterocyte heparan sulfate deficiency is characterized by massive enteric protein loss, secretory diarrhea, and intolerance to enteral feeds during the first few weeks of life.


gallbladder leiomyoma

description: A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


anal polyp

description: A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma.


small intestine diverticulitis

description: A diverticulitis that involves the small intestine.


colonic disorder

description: Pathological processes in the colon region of the large intestine (intestine, large).


mucinous pancreas adenocarcinoma

description: A pancreatic adenocarcinoma that derives from epithelial cells originating in glandular tissue, which produce mucin.


periampullary adenocarcinoma

description: An adenocarcinoma that arises from the periampullary region.


name: carcinoma of liver and intrahepatic biliary tract

description: A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma.


name: calcifying nested epithelial stromal tumor of the liver

description: A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present.


Dieulafoy lesion

description: Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly.


esophageal basaloid carcinoma

description: A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)


hereditary folate malabsorption

description: Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.


chronic cholangitis

description: Cholangitis that is persistent and long-standing.


gastric adenosquamous carcinoma

description: A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation.


appendix villous adenoma

description: An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia.


name: polycystic liver disease 3 with or without kidney cysts

description: Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts.


jejunal cancer

description: A malignant neoplasm involving the jejunum.


name: primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome


gastric carcinoma

description: A carcinoma that arises from epithelial cells of the stomach.


name: diabetes mellitus, noninsulin-dependent, 3


description: Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion.


name: extrahepatic bile duct papillary adenoma

description: An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern.


inflammatory bowel disease 27

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3


esophageal neuroendocrine tumor

description: A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus.


name: colorectal gastrointestinal stromal tumor

description: A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course.


postgastrectomy syndrome

description: Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies.


dyskinesia of esophagus

description: Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus).


pancreatic cholera

description: A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells.


liver sarcoma

description: A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma.


name: perinatal jaundice due to hepatocellular damage

description: Jaundice in perinates due to cellular damage of liver.


name: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

description: Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988.


eosinophilic gastritis

description: An eosinophilic gastroenteritis that is characterized by inflammation of the stomach.


extrahepatic bile duct leiomyoma

description: A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


liver extraskeletal osteosarcoma

description: An osteosarcoma arising from the liver.


hypopharynx cancer

description: A primary or metastatic malignant neoplasm that affects the hypopharynx.


name: intractable diarrhea-choanal atresia-eye anomalies syndrome

description: Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously.


colon Burkitt lymphoma

description: A rare Burkitt lymphoma that arises from the colon.


familial intrahepatic cholestasis

description: An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.


gallbladder papillary neoplasm

description: A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present.


gallbladder rhabdomyosarcoma

description: A rhabdomyosarcoma that is located in the gallbladder.


glucose-galactose malabsorption

description: Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.


cecum lymphoma

description: An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas.


name: functional pancreatic neuroendocrine tumor

description: A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion.


name: autosomal recessive hyperinsulinism due to Kir6.2 deficiency


aryepiglottic fold cancer

description: A malignant neoplasm involving the aryepiglottic fold.


viral hepatitis

description: An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis.


name: pancreatic gastrin-producing neuroendocrine tumor

description: A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome.


diabetes mellitus

description: A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.


duodenal atresia

description: Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.


name: extrahepatic bile duct small cell adenocarcinoma

description: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells.


colorectal tubulovillous adenoma

description: A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.


benign neoplasm of exocrine pancreas

description: A benign neoplasm that involves the exocrine pancreas.


cirrhosis of liver

description: 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.


gingival cancer

description: A primary or metastatic malignant neoplasm that affects the gums.


esophagus squamous cell papilloma

description: A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare.


pancreatic gastrinoma

description: A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption.


name: solid pseudopapillary neoplasm of the pancreas

description: A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases.


gallbladder neoplasm

description: A neoplasm (disease) that involves the gall bladder.


name: hyperinsulinism due to glucokinase deficiency

description: Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.


description: Pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine.


name: maturity-onset diabetes of the young type 1

description: Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha.


secondary intestinal lymphangiectasia

description: Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions.


carcinoma in situ of cecum

description: A in situ carcinoma that involves the caecum.


pancreatic acinar cell carcinoma

description: An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis.


benign neoplasm of gallbladder

description: A benign neoplasm that involves the gall bladder.


colloid carcinoma of the pancreas

description: An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei.


name: papillary extrahepatic bile duct adenocarcinoma


non-neoplastic bile duct disorder

description: A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia.


carcinoma of floor of mouth

description: A carcinoma that involves the mouth floor.


undifferentiated pancreatic carcinoma

description: A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells.


primary sclerosing cholangitis

description: Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.


description: A hepatocellular carcinoma that develops following exposure to aflatoxin.


name: ampulla of vater clear cell adenocarcinoma

description: A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei.


name: gallbladder pleomorphic giant cell adenocarcinoma


name: cystic fibrosis associated meconium ileus

description: Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis.


familial pancreatic carcinoma

description: Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.


pancreatoblastoma

description: Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.


diarrheal disease

description: The condition of having at least three loose or liquid bowel movements each day.


eosinophilic gastroenteritis

description: Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.


biliary cystadenocarcinoma

description: A cystadenocarcinoma that involves the biliary tree.


name: cholestasis, progressive familial intrahepatic, 9


liver abscess (disease)

description: An abscess that involves the liver.


lymphocytic colitis

description: Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.


pharynx cancer

description: A primary or metastatic malignant neoplasm that affects the pharynx.


inflammatory bowel disease 12

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3


inflammatory pseudotumor of the liver

description: Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion.


name: adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia

description: Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide


benign neoplasm of small intestine

description: A benign neoplasm that involves the small intestine.


name: squamous cell carcinoma of the oral tongue


name: submucosal invasive colon adenocarcinoma

description: An adenocarcinoma of the colon that has invaded into the submucosa.


polyp of rectum

description: A polyp that involves the rectum.


lactose intolerance adult type

description: Adult onset lactose intolerance


sclerosing cholangitis

description: A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure.


name: congenital sucrase-isomaltase deficiency without sucrose intolerance


name: small intestinal diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that arises from the small intestine.


intermediate DEND syndrome

description: Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy.


name: Rokitansky-Aschoff sinuses of the gallbladder

description: An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones.


autoimmune pancreatitis type 1

description: Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease.


rectal traditional serrated adenoma

description: An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia.


name: neuroendocrine tumor of rectum, well differentiated, low or intermediate grade

description: A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum.


ascending colon neuroendocrine tumor G1

description: A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


salivary gland adenosquamous carcinoma

description: A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component.


duodenal obstruction

description: Blockage of the normal flow of stomach contents through the duodenum.


Crohn disease of the esophagus

description: An Crohn disease involving a pathogenic inflammatory response in the esophagus.


childhood eosinophilic esophagitis

description: An eosinophilic esophagitis that starts in childhood.


name: metabolic dysfunction and alcohol associated liver disease

description: A steatotic liver disease characterized by at least one of the five cardiometabolic risk factors for MASLD and alcohol consumption of 140-350g/week (females) or 210-420g/week (males). This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the MASLD cardiometabolic risk factors.


parotid gland cancer

description: A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma.


ileum cancer

description: A malignant neoplasm involving the ileum


name: biliary atresia intrahepatic non syndromic form


name: visceral neuropathy, familial, 1, autosomal recessive

description: A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.


familial visceral myopathy

description: A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.


inflammatory bowel disease 28

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene.


chronic gastritis

description: Inflammation of the stomach that is chronic in nature.


bile duct sarcoma

description: A sarcoma that involves the bile duct.


description: This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.


bile duct neoplasm

description: A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma.


biliary tract cancer

description: A malignant neoplasm involving the biliary tree


biliary tract disorder

description: A disease involving the biliary tree.


laryngotracheoesophageal cleft

description: A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.


name: non-functional pancreatic neuroendocrine tumor

description: A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome.


sigmoid colon cancer

description: A malignant neoplasm involving the sigmoid colon.


GRFoma

description: 6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1).


malabsorption syndrome

description: A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea.


name: developmental delay, epilepsy, and neonatal diabetes 2


gastric neoplasm

description: A benign or malignant neoplasm involving the stomach.


salivary gland mucinous adenocarcinoma

description: A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found.


viral gastritis

description: Inflammation of the stomach resulting from viral infection.


chronic intestinal failure

description: Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease).


sclerosing hepatic carcinoma

description: An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae.


name: idiopathic malabsorption due to bile acid synthesis defects

description: Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.


gastrin-producing neuroendocrine tumor

description: A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine.


hereditary nonpolyposis colon cancer

description: Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.


pancreas lymphoma

description: A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas.


villous adenoma of colon

description: A villous adenoma that involves the colon.


hepatitis D virus infection

description: Inflammation of the liver in humans caused by hepatitis delta virus, a defective RNA virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.


pancreatic neuroendocrine tumor

description: Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma).


esophagus leiomyoma

description: A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom.


intestinal neuroendocrine tumor G1

description: A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


undetermined colitis

description: Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.


name: adenocarcinoma of gallbladder and extrahepatic biliary tract

description: Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.


name: ampullary signet ring cell adenocarcinoma

description: An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells.


adenosquamous colon carcinoma

description: An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.


salivary gland adenoid cystic carcinoma

description: An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver.


inflammatory bowel disease 25

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene.


gallbladder cancer

description: A malignant neoplasm involving the gall bladder


gastric body carcinoma

description: A carcinoma that arises from epithelial cells of the body of stomach.


protein-losing enteropathy

description: Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine.


proctosigmoiditis

description: Inflammation of the sigmoid colon and rectum.


lower lip cancer

description: A malignant neoplasm involving the lower lip.


fibroepithelial polyp of the anus

description: A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium.


appendicitis

description: Acute inflammation of the vermiform appendix.


collagenous colitis

description: A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.


benign neoplasm of cecum

description: A benign neoplasm that involves the caecum.


occlusion of gallbladder

description: Blockage of the normal flow of the contents of the gallbladder.


malignant tumor of minor salivary gland

description: A cancer that involves the minor salivary gland.


anal verrucous carcinoma

description: A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma.


viral esophagitis

description: Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning.


oral cavity mucoepidermoid carcinoma

description: A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination.


focal nodular hyperplasia

description: A benign tumor of the liver, characterized by hyperplastic growth of hepatocytes and a central fibrovascular scar.


extrahepatic bile duct sarcoma

description: A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.


description: A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.


autoimmune gastritis

description: Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma.


liver leiomyoma

description: A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


hereditary chronic pancreatitis

description: Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.


cardia cancer

description: A malignant neoplasm involving the cardia of stomach.


achlorhydria

description: Absence of hydrochloric acid in the gastric juice.


small intestine adenocarcinoma

description: An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.


hard palate cancer

description: A malignant neoplasm involving the hard palate.


congenital isolated hyperinsulinism

description: Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism.


anorectal stricture

description: Narrowing of the anorectum associated with inflammation or scar tissue.


perforation of bile duct

description: A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes.


intestinal polyp

description: Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base.


cheek mucosa cancer

description: A malignant neoplasm involving the buccal mucosa.


gallbladder angiosarcoma

description: An angiosarcoma that is located in the gallbladder.


small intestine neoplasm

description: A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma.


benign neoplasm of stomach

description: A benign neoplasm that involves the stomach.


protozoal dysentery

description: A dysentery that involves protozoan infection.


emphysematous cholecystitis

description: Cholecystitis resulting from infection by gas producing organisms.


dumping syndrome

description: A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss.


Lynch syndrome

description: An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.


benign neoplasm of pancreas

description: A benign neoplasm that involves the pancreas.


minor salivary gland carcinoma

description: A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma.


islet cell adenomatosis

description: A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.


tropical sprue

description: A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common.


salivary gland large cell carcinoma

description: A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass.


description: Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the esophagus, with or without persistent communication with the trachea.


extrahepatic biliary atresia

description: A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow.


name: hyperinsulinemic hypoglycemia, familial, 2

description: Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.


tropical pancreatitis

description: Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.


hepatitis A virus infection

description: Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water.


carcinoma in situ of gastric body

description: A in situ carcinoma that involves the body of stomach.


gastritis

description: Inflammation of the stomach.


esophagus carcinoma in situ

description: Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)


colon sarcoma

description: A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.


pleomorphic adenoma

description: A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma).


neurogenic bowel

description: Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body.


name: pancreatic triacylglycerol lipase deficiency

description: An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase.


incomplete septal cirrhosis

description: A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma.


name: extrahepatic bile duct mucinous adenocarcinoma

description: An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.


colon leiomyoma

description: A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


gastric mantle cell lymphoma

description: A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course.


type 2 diabetes mellitus

description: A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.


name: congenital secretory chloride diarrhea 1

description: Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene.


duodenitis

description: Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain.


achalasia, familial esophageal

description: An instance of achalsia that is caused by an inherited genomic modification in an individual.


biliary atresia

description: 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.


squamous cell bile duct carcinoma

description: A squamous cell carcinoma that involves the bile duct.


gallbladder melanoma

description: A melanoma that arises from the gallbladder.


name: polycystic liver disease 4 with or without kidney cysts

description: An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure.


collagenous sprue

description: A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal.


name: salivary gland basal cell adenocarcinoma

description: A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients.


gastroparesis

description: Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine.


esophagus leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells.


anus rhabdomyosarcoma

description: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus.


levator syndrome

description: Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms.


anus leiomyoma

description: A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


rectal carcinoma

description: A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.


meconium ileus

description: Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine.


esophageal melanoma

description: A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)


name: cholestasis, progressive familial intrahepatic, 10


chronic hepatitis B virus infection

description: Chronic form of hepatitis B infection.


acquired hypertrophic pyloric stenosis

description: An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual.


colon carcinoma

description: A carcinoma that arises from epithelial cells of the colon


congenital diarrhea 6

description: Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene.


gastric cardia adenocarcinoma

description: A carcinoma that arises from glandular epithelial cells of the cardia of stomach.


rectal neuroendocrine tumor G1

description: A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


description: Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.


name: combined pancreatic lipase-colipase deficiency

description: A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.


primary intestinal lymphangiectasia

description: Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children.


hepatic infarction

description: Prolonged ischemia to the liver resulting in necrosis.


name: squamous cell carcinoma of floor of mouth

description: A squamous cell carcinoma that involves the mouth floor.


diabetic ketoacidosis

description: The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids.


name: maturity-onset diabetes of the young type 7

description: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene.


radiation proctitis

description: Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.


Chilaiditi syndrome

description: Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition.


splenic flexure cancer

description: A malignant neoplasm involving the splenic flexure of colon.


gastroesophageal cancer

description: A gastrointestinal system cancer that is located in the proximal esophagus and the distal stomach.


malignant gastric germ cell tumor

description: A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma.


name: early-onset familial noncirrhotic portal hypertension


name: embryonal extrahepatic bile duct rhabdomyosarcoma

description: An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts.


oral Crohn disease

description: Crohn's disease affecting the mouth.


hepatorenal syndrome

description: 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.


renal cysts and diabetes syndrome

description: Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.


gallbladder sarcoma

description: A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.


inflammatory bowel disease 5

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31.


acute hepatitis B virus infection

description: A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk.


alcoholic gastritis

description: Inflammation of the stomach resulting from alcohol ingestion.


pancreatic serous cystic neoplasm

description: A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma.


description: Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.


rectum malignant melanoma

description: An aggressive malignant melanocytic neoplasm that arises from the rectum.


name: congenital sucrase-isomaltase deficiency with starch intolerance


ileal neoplasm

description: A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma.


small intestine lymphoma

description: A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine.


rectal adenosquamous carcinoma

description: An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.


inflammatory bowel disease 1

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene.


name: megacystis-microcolon-intestinal hypoperistalsis syndrome 4


gastric pylorus carcinoma

description: A carcinoma that arises from the pylorus.


inflammatory bowel disease 4

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12.


microinvasive gastric cancer

description: An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present.


inflammatory bowel disease 8

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 16p.


name: pancreatic non-functioning delta cell tumor

description: A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome.


hilar cholangiocarcinoma

description: A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts.


name: pyloric stenosis, infantile hypertrophic, 5


name: gallbladder signet ring cell adenocarcinoma

description: An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells.


tonsillar pillar cancer

description: A cancer that involves the tonsillar pillar.


mucinous gastric adenocarcinoma

description: A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools.


oral rhabdomyosarcoma

description: A rhabdomyosarcoma located in the oral cavity.


name: colon mucosa-associated lymphoid tissue lymphoma

description: An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon.


taeniasis

description: A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea.


drug-induced hepatitis

description: Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite.


appendix lymphoma

description: A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare.


hepatic tuberculosis

description: Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests.


intrahepatic bile duct adenoma

description: A rare adenoma that arises from the intrahepatic biliary tree.


Crohn ileitis

description: An Crohn disease involving a pathogenic inflammatory response in the ileum.


rectosigmoid junction cancer

description: A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma.


autosomal erythropoietic protoporphyria

description: Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.


polyp of large intestine

description: A polyp that involves the large intestine.


malignant exocrine pancreas neoplasm

description: A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.


name: POLE-related polyposis and colorectal cancer syndrome

description: An autosomal dominant hereditary syndrome caused by germline pathogenic POLE variants. It is characterized by the presence of colorectal polyps and colorectal cancer.


pancreatic serous cystadenocarcinoma

description: A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain.


anus sarcoma

description: A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma.


pancreatic neoplasm

description: A benign or malignant neoplasm involving the pancreas.


exercise-induced hyperinsulinism

description: Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells.


appendix cancer

description: A malignant neoplasm involving the vermiform appendix


duodenal somatostatinoma

description: A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures.


pancreatic mucinous cystadenoma

description: A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass.


neuroendocrine tumor of the anal canal

description: A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal.


name: metastasis from malignant tumor of colon


postcricoid region cancer

description: A primary or metastatic malignant neoplasm that affects the postcricoid region.


name: undifferentiated embryonal sarcoma of the liver

description: Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.


liver failure

description: A liver disease characterized by the liver losing or has lost all of its function.


benign neoplasm of oropharynx

description: A benign neoplasm that involves the oropharynx.


solitary necrotic nodule of the liver

description: Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.


gastric teratoma

description: A mature or immature teratoma that arises from the stomach.


name: cryptogenic multifocal ulcerous stenosing enteritis


name: extrahepatic bile duct clear cell adenocarcinoma

description: A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells.


hyperinsulinism due to HNF1A deficiency

description: Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life.


epithelial tumor of colon

description: A epithelial neoplasm that involves the colon.


name: diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency


name: duodenal neuroendocrine tumor, well differentiated, low or intermediate grade

description: A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum.


acalculous cholecystitis

description: Inflammation of the gallbladder in the absence of gallstones.


name: inflammatory skin and bowel disease, neonatal, 2

description: Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene.


gastrointestinal lymphoma

description: A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site.


intestinal perforation

description: A rupture in the wall of the small or large intestine due to traumatic or pathologic processes.


imperforate anus

description: A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities.


gastric mucosal hypertrophy

description: A rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.


name: diarrheal disease secondary to altered bowel motility

description: A diarrhea that results from either increased or decreased motility in the bowel.


trichohepatoenteric syndrome

description: A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.


gallbladder disorder

description: A disease involving the gall bladder.


liver hemangioma

description: A hemangioma arising from the liver.


name: colonic L-cell glucagon-like peptide producing tumor

description: A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.


rectal tubulovillous adenoma

description: A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.


portal vein thrombosis

description: The formation of a blood clot (thrombus) in the portal vein.


oral tuberculosis

description: Tuberculosis of the mouth, tongue, and salivary glands.


dientamoebiasis

description: Gastrointestinal infection with organisms of the genus dientamoeba.


name: gastric enterochromaffin cell serotonin-producing neuroendocrine tumor

description: A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome.


inflammatory bowel disease 22

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2.


laryngotracheoesophageal cleft type 3

description: Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage.


name: maturity-onset diabetes of the young type 8

description: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene.


hepatobiliary neoplasm

description: A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma.


autoimmune hepatitis type 3

description: Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens.


name: cholestasis, progressive familial intrahepatic, 12


bile reflux

description: Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas.


afferent loop syndrome

description: A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid.


colon neuroendocrine tumor G1

description: A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


colitis

description: Inflammation of the colon.


major salivary gland cancer

description: A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.


name: carcinoma of gallbladder and extrahepatic biliary tract

description: Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.


mature gastric teratoma

description: A benign teratoma that arises from the stomach.


fatty liver disease

description: A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis.


acute pancreatitis

description: An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs.


trichohepatoenteric syndrome 1

description: Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene.


isolated tracheo-esophageal fistula

description: A congenital or acquired abnormal communication between the trachea and the esophagus.


gastric neuroendocrine tumor G1

description: A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic.


proctitis

description: An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease.


carcinoma in situ of gastric cardia

description: A in situ carcinoma that involves the cardia of stomach.


diverticulitis

description: An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis.


paralytic ileus

description: An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction.


alcoholic liver cirrhosis

description: A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages.


neurofibroma of the esophagus

description: A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells.


benign insulitis

description: A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation.


gastrointestinal polyp

description: A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps.


oral cavity cancer

description: A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas.


gastric tubular adenocarcinoma

description: A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules.


extrahepatic bile duct carcinoma

description: A carcinoma that arises from epithelial cells of the extrahepatic bile duct.


colon inflammatory polyp

description: A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis.


jaw cancer

description: A malignant neoplasm involving the jaw skeleton


colon lymphoma

description: An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas.


squamous cell carcinoma of rectum

description: A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.


name: maturity-onset diabetes of the young type 10

description: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene.


primary biliary cholangitis

description: Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.


inflammatory diarrhea

description: An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa.


secondary short bowel syndrome

description: Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.


angiodysplasia of intestine

description: A angiodysplasia that involves the intestine.


permanent neonatal diabetes mellitus

description: Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.


upper lip cancer

description: A malignant neoplasm involving the upper lip.


colonic neoplasm

description: A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.


retromolar area cancer

description: A malignant form of neoplasm of retromolar area.


colorectal serrated adenocarcinoma

description: A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture.


granulomatous gastritis

description: Gastritis that is associated with the presence of granulomas.


hereditary coproporphyria

description: A form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.


appendix neuroendocrine tumor G1

description: A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


carcinoma of lip

description: A carcinoma that involves the lip.


colon medullary carcinoma

description: A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.


minor salivary gland adenocarcinoma

description: An adenocarcinoma that arises from the minor salivary glands.


gall bladder carcinoma in situ

description: A carcinoma in situ involving a gall bladder.


polycystic liver disease 2

description: Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene.


rectal medullary carcinoma

description: A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.


permanent neonatal diabetes mellitus 1

description: A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well.


name: cholestasis, progressive familial intrahepatic, 7, with or without hearing loss


inflammatory bowel disease 20

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24.


name: TRIM22-related inflammatory bowel disease

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene.


duodenal villous adenoma

description: A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.


name: malignant neoplasm of cervical esophagus

description: A cancer that involves the cervical part of esophagus.


inflammatory bowel disease 17

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene.


name: maxillary sinus adenoid cystic carcinoma

description: An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course.


name: diabetes mellitus, transient neonatal, 2

description: Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene.


cloacogenic carcinoma

description: An anal carcinoma arising from the transitional zone of the anal canal.


megaesophagus

description: An abnormal dilation of the esophagus not due to obstruction.


inherited hypertrophic pyloric stenosis

description: An instance of hypertrophic pyloric stenosis that is inherited.


colorectal adenoma

description: An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.


description: A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose.


pancreatic neuroendocrine tumor G1

description: A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%.


Alagille syndrome

description: Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.


name: diverticulosis of bowel, hernia, and retinal detachment

description: A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions.


name: cholestasis, progressive familial intrahepatic, 11


name: cholestasis, progressive familial intrahepatic, 4

description: Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.


alcoholic liver diseases

description: 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.


pancreas sarcoma

description: A rare malignant soft tissue neoplasm that occurs primarily in the pancreas.


bacterial esophagitis

description: An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations.


benign neoplasm of esophagus

description: A benign neoplasm that involves the esophagus.


name: cholestasis, intrahepatic, of pregnancy, 3


name: carcinoma in situ of extrahepatic bile duct

description: A in situ carcinoma that involves the extrahepatic bile duct.


salivary duct carcinoma

description: An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites.


appendix mucinous cystadenocarcinoma

description: An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures.


cavernous hemangioma of colon

description: A cavernous hemangioma arising from the colon.


name: ileal neuroendocrine tumor, well differentiated, low or intermediate grade

description: A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum.


rectal prolapse

description: Protrusion of the rectum through the anus.


congenital secretory sodium diarrhea 3

description: Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene.


name: diarrheal disease secondary to increased bowel motility

description: A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease.


anus adenocarcinoma

description: An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis.


autoimmune pancreatitis

description: Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.


postcholecystectomy syndrome

description: Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal.


perianal skin Paget disease

description: Paget disease involving the perianal skin.


parasitic intestinal disorder

description: Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS.


periampullary adenoma

description: A adenoma that involves the periampullary region of duodenum.


malignant gastric granular cell tumor

description: A metastasizing granular cell tumor that arises from the stomach.


name: pyloric stenosis, infantile hypertrophic, 2


cecum adenocarcinoma

description: A carcinoma that arises from glandular epithelial cells of the caecum


inflammatory bowel disease 7

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36.