hereditary folate malabsorption

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

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Cholangitis that is persistent and long-standing.


gastric adenosquamous carcinoma

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


appendix villous adenoma

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


polycystic liver disease 3 with or without kidney cysts

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

A malignant neoplasm involving the jejunum.


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


gastric carcinoma

A carcinoma that arises from epithelial cells of the stomach.


diabetes mellitus, noninsulin-dependent, 3


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.


extrahepatic bile duct papillary adenoma

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


inflammatory bowel disease 27

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


esophageal neuroendocrine tumor

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


colorectal gastrointestinal stromal tumor

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

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.


pancreatic cholera

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

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


perinatal jaundice due to hepatocellular damage

Jaundice in perinates due to cellular damange of liver.


Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

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

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


extrahepatic bile duct leiomyoma

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

An osteosarcoma arising from the liver.


hypopharynx cancer

A primary or metastatic malignant neoplasm that affects the hypopharynx.


intractable diarrhea-choanal atresia-eye anomalies syndrome

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

A rare Burkitt lymphoma that arises from the colon.


familial intrahepatic cholestasis

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


gallbladder papillary neoplasm

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


gallbladder rhabdomyosarcoma

A rhabdomyosarcoma that is located in the gallbladder.


glucose-galactose malabsorption

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

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


functional pancreatic neuroendocrine tumor

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.


autosomal recessive hyperinsulinism due to Kir6.2 deficiency


aryepiglottic fold cancer

A malignant neoplasm involving the aryepiglottic fold.


pancreatic gastrin-producing neuroendocrine tumor

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.


duodenal atresia

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


extrahepatic bile duct small cell adenocarcinoma

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

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

A benign neoplasm that involves the exocrine pancreas.


gingival cancer

A primary or metastatic malignant neoplasm that affects the gums.


esophagus squamous cell papilloma

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

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.


solid pseudopapillary neoplasm of the pancreas

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

A neoplasm (disease) that involves the gall bladder.


hyperinsulinism due to glucokinase deficiency

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.


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


maturity-onset diabetes of the young type 1

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


secondary intestinal lymphangiectasia

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

A in situ carcinoma that involves the caecum.


pancreatic acinar cell carcinoma

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

A benign neoplasm that involves the gall bladder.


colloid carcinoma of the pancreas

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.


papillary extrahepatic bile duct adenocarcinoma


non-neoplastic bile duct disorder

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


carcinoma of floor of mouth

A carcinoma that involves the mouth floor.


undifferentiated pancreatic carcinoma

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

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.


A hepatocellular carcinoma that develops following exposure to aflatoxin.


ampulla of vater clear cell adenocarcinoma

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.


gallbladder pleomorphic giant cell adenocarcinoma


cystic fibrosis associated meconium ileus

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

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


pancreatoblastoma

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.


biliary cystadenocarcinoma

A cystadenocarcinoma that involves the biliary tree.


cholestasis, progressive familial intrahepatic, 9


lymphocytic colitis

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

A primary or metastatic malignant neoplasm that affects the pharynx.


inflammatory bowel disease 12

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


inflammatory pseudotumor of the liver

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


adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia

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

A benign neoplasm that involves the small intestine.


squamous cell carcinoma of the oral tongue


submucosal invasive colon adenocarcinoma

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


lactose intolerance adult type

Adult onset lactose intolerance


congenital sucrase-isomaltase deficiency without sucrose intolerance


small intestinal diffuse large B-cell lymphoma

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


intermediate DEND syndrome

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.


Rokitansky-Aschoff sinuses of the gallbladder

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

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

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


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

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


ascending colon neuroendocrine tumor G1

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

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


Crohn disease of the esophagus

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


childhood eosinophilic esophagitis

An eosinophilic esophagitis that starts in childhood.


parotid gland cancer

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


ileum cancer

A malignant neoplasm involving the ileum


biliary atresia intrahepatic non syndromic form


visceral neuropathy, familial, 1, autosomal recessive

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

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

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


bile duct sarcoma

A sarcoma that involves the bile duct.


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


bile duct neoplasm

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.


laryngotracheoesophageal cleft

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.


non-functional pancreatic neuroendocrine tumor

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

A malignant neoplasm involving the sigmoid colon.


GRFoma

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).


developmental delay, epilepsy, and neonatal diabetes 2


salivary gland mucinous adenocarcinoma

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

Inflammation of the stomach resulting from viral infection.


chronic intestinal failure

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

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


idiopathic malabsorption due to bile acid synthesis defects

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

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

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

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

A villous adenoma that involves the colon.


hepatitis D virus infection

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

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

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

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

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.


adenocarcinoma of gallbladder and extrahepatic biliary tract

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.


ampullary signet ring cell adenocarcinoma

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


adenosquamous colon carcinoma

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

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

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


gastric body carcinoma

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


protein-losing enteropathy

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

Inflammation of the sigmoid colon and rectum.


lower lip cancer

A malignant neoplasm involving the lower lip.


benign neoplasm of cecum

A benign neoplasm that involves the caecum.


occlusion of gallbladder

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


malignant tumor of minor salivary gland

A cancer that involves the minor salivary gland.


anal verrucous carcinoma

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

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

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


extrahepatic bile duct sarcoma

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


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

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

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

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

A malignant neoplasm involving the cardia of stomach.


small intestine adenocarcinoma

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


hard palate cancer

A malignant neoplasm involving the hard palate.


congenital isolated hyperinsulinism

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.


maturity-onset diabetes of the young

MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.


anorectal stricture

Narrowing of the anorectum associated with inflammation or scar tissue.


perforation of bile duct

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


cheek mucosa cancer

A malignant neoplasm involving the buccal mucosa.


gallbladder angiosarcoma

An angiosarcoma that is located in the gallbladder.


small intestine neoplasm

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

A benign neoplasm that involves the stomach.


protozoal dysentery

A dysentery that involves protozoan infection.


emphysematous cholecystitis

Cholecystitis resulting from infection by gas producing organisms.


Lynch syndrome

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

A benign neoplasm that involves the pancreas.


minor salivary gland carcinoma

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.


salivary gland large cell carcinoma

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.


extrahepatic biliary atresia

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


hyperinsulinemic hypoglycemia, familial, 2

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


tropical pancreatitis

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.


carcinoma in situ of gastric body

A in situ carcinoma that involves the body of stomach.


colon sarcoma

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


pleomorphic adenoma

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

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.


pancreatic triacylglycerol lipase deficiency

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

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.


extrahepatic bile duct mucinous adenocarcinoma

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

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

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.


congenital secretory chloride diarrhea 1

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


achalasia, familial esophageal

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


biliary atresia

A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.


squamous cell bile duct carcinoma

A squamous cell carcinoma that involves the bile duct.


gallbladder melanoma

A melanoma that arises from the gallbladder.


polycystic liver disease 4 with or without kidney cysts

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

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.


salivary gland basal cell adenocarcinoma

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.


esophagus leiomyosarcoma

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


anus rhabdomyosarcoma

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


levator syndrome

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

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.


esophageal melanoma

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)


cholestasis, progressive familial intrahepatic, 10


acquired hypertrophic pyloric stenosis

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


colon carcinoma

A carcinoma that arises from epithelial cells of the colon


congenital diarrhea 6

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


gastric cardia adenocarcinoma

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


rectal neuroendocrine tumor G1

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.


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.


combined pancreatic lipase-colipase deficiency

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

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.


squamous cell carcinoma of floor of mouth

A squamous cell carcinoma that involves the mouth floor.


maturity-onset diabetes of the young type 7

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


radiation proctitis

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

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

A malignant neoplasm involving the splenic flexure of colon.


gastroesophageal cancer

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


malignant gastric germ cell tumor

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


early-onset familial noncirrhotic portal hypertension


embryonal extrahepatic bile duct rhabdomyosarcoma

An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts.


oral Crohn disease

Crohn's disease affecting the mouth.


renal cysts and diabetes syndrome

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

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


inflammatory bowel disease 5

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


alcoholic gastritis

Inflammation of the stomach resulting from alcohol ingestion.


pancreatic serous cystic neoplasm

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.


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

An aggressive malignant melanocytic neoplasm that arises from the rectum.


congenital sucrase-isomaltase deficiency with starch intolerance


ileal neoplasm

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


small intestine lymphoma

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


rectal adenosquamous carcinoma

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

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


megacystis-microcolon-intestinal hypoperistalsis syndrome 4


gastric pylorus carcinoma

A carcinoma that arises from the pylorus.


inflammatory bowel disease 4

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


microinvasive gastric cancer

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

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


pancreatic non-functioning delta cell tumor

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


hilar cholangiocarcinoma

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


pyloric stenosis, infantile hypertrophic, 5


gallbladder signet ring cell adenocarcinoma

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


tonsillar pillar cancer

A cancer that involves the tonsillar pillar.


mucinous gastric adenocarcinoma

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


oral rhabdomyosarcoma

A rhabdomyosarcoma located in the oral cavity.


colon mucosa-associated lymphoid tissue lymphoma

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


taeniasis

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

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

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

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

A rare adenoma that arises from the intrahepatic biliary tree.


Crohn ileitis

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


rectosigmoid junction cancer

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


autosomal erythropoietic protoporphyria

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.


malignant exocrine pancreas neoplasm

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


POLE-related polyposis and colorectal cancer syndrome

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

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

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


exercise-induced hyperinsulinism

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.


duodenal somatostatinoma

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


pancreatic mucinous cystadenoma

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

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


postcricoid region cancer

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


undifferentiated embryonal sarcoma of the liver

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.


benign neoplasm of oropharynx

A benign neoplasm that involves the oropharynx.


solitary necrotic nodule of the liver

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

A mature or immature teratoma that arises from the stomach.


cryptogenic multifocal ulcerous stenosing enteritis


extrahepatic bile duct clear cell adenocarcinoma

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

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

A epithelial neoplasm that involves the colon.


diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency


duodenal neuroendocrine tumor, well differentiated, low or intermediate grade

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


acalculous cholecystitis

Inflammation of the gallbladder in the absence of gallstones.


inflammatory skin and bowel disease, neonatal, 2

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


gastric mucosal hypertrophy

MC)nC)trier disease (MD) is 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.


diarrheal disease secondary to altered bowel motility

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


trichohepatoenteric syndrome

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.


colonic L-cell glucagon-like peptide producing tumor

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

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.


oral tuberculosis

Tuberculosis of the mouth, tongue, and salivary glands.


dientamoebiasis

Gastrointestinal infection with organisms of the genus dientamoeba.


gastric enterochromaffin cell serotonin-producing neuroendocrine tumor

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

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


laryngotracheoesophageal cleft type 3

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.


maturity-onset diabetes of the young type 8

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


hepatobiliary neoplasm

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

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


cholestasis, progressive familial intrahepatic, 12


bile reflux

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

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

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.


major salivary gland cancer

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


carcinoma of gallbladder and extrahepatic biliary tract

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

A benign teratoma that arises from the stomach.


trichohepatoenteric syndrome 1

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


isolated tracheo-esophageal fistula

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


gastric neuroendocrine tumor G1

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.


carcinoma in situ of gastric cardia

A in situ carcinoma that involves the cardia of stomach.


neurofibroma of the esophagus

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

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

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

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


gastric tubular adenocarcinoma

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


extrahepatic bile duct carcinoma

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


colon inflammatory polyp

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

A malignant neoplasm involving the jaw skeleton


colon lymphoma

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


squamous cell carcinoma of rectum

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


maturity-onset diabetes of the young type 10

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


inflammatory diarrhea

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


secondary short bowel syndrome

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

A angiodysplasia that involves the intestine.


permanent neonatal diabetes mellitus

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

A malignant neoplasm involving the upper lip.


retromolar area cancer

A malignant form of neoplasm of retromolar area.


colorectal serrated adenocarcinoma

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


granulomatous gastritis

Gastritis that is associated with the presence of granulomas.


hereditary coproporphyria

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

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

A carcinoma that involves the lip.


colon medullary carcinoma

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

An adenocarcinoma that arises from the minor salivary glands.


gall bladder carcinoma in situ

A carcinoma in situ involving a gall bladder.


polycystic liver disease 2

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


rectal medullary carcinoma

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

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.


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


inflammatory bowel disease 20

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


TRIM22-related inflammatory bowel disease

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


duodenal villous adenoma

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.


malignant neoplasm of cervical esophagus

A cancer that involves the cervical part of esophagus.


inflammatory bowel disease 17

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


maxillary sinus adenoid cystic carcinoma

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


diabetes mellitus, transient neonatal, 2

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


cloacogenic carcinoma

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


inherited hypertrophic pyloric stenosis

An instance of hypertrophic pyloric stenosis that is inherited.


colorectal adenoma

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.


pancreatic neuroendocrine tumor G1

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%.


diverticulosis of bowel, hernia, and retinal detachment

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.


cholestasis, progressive familial intrahepatic, 11


cholestasis, progressive familial intrahepatic, 4

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


pancreas sarcoma

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


bacterial esophagitis

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

A benign neoplasm that involves the esophagus.


cholestasis, intrahepatic, of pregnancy, 3


carcinoma in situ of extrahepatic bile duct

A in situ carcinoma that involves the extrahepatic bile duct.


salivary duct carcinoma

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

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


cavernous hemangioma of colon

A cavernous hemangioma arising from the colon.


ileal neuroendocrine tumor, well differentiated, low or intermediate grade

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


congenital secretory sodium diarrhea 3

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


diarrheal disease secondary to increased bowel motility

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

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.


perianal skin Paget disease

Paget disease involving the perianal skin.


parasitic intestinal disorder

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

A adenoma that involves the periampullary region of duodenum.


malignant gastric granular cell tumor

A metastasizing granular cell tumor that arises from the stomach.


pyloric stenosis, infantile hypertrophic, 2


cecum adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the caecum


inflammatory bowel disease 7

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


Mirizzi syndrome

Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever.


esophageal duplication cyst

Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.


colorectal hamartoma

A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp.


neonatal ichthyosis-sclerosing cholangitis syndrome

Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.


small intestinal mucosa-associated lymphoid tissue lymphoma

A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine.


glycogen storage disease due to liver phosphorylase kinase deficiency

A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.


hyperinsulinism due to UCP2 deficiency

HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.


nephropathy, progressive tubulointerstitial, with cholestatic liver disease


follicular cholangitis and pancreatitis

Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts.


mucoepidermoid esophageal carcinoma

A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO)


common bile duct disorder

A disease involving the common bile duct.


benign neoplasm of anus

A benign neoplasm that involves the anus.


anal canal Paget disease

Paget disease involving the squamous epithelium of the anal canal.


autoimmune pancreatitis type 2

Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.


colonic pseudo-obstruction

Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome.


anal melanoma

A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor.


extrahepatic bile duct lipoma

A rare benign adipose tissue neoplasm of the extrahepatic bile duct.


CTNNA1-related diffuse gastric and lobular breast cancer syndrome

Germline pathogenic or likely pathogenic variants in the CTNNA1 gene predispose to hereditary diffuse gastric cancer and lobular breast cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern.


pancreatic ACTH-producing neuroendocrine tumor

A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor.


SEC61B-related polycystic liver disease

Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene.


benign recurrent intrahepatic cholestasis type 2


blind loop syndrome

A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis.


colorectal cancer, hereditary nonpolyposis, type 6

Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene.


oropharyngeal anthrax

A anthrax infection that involves the oropharynx.


Waardenburg-Shah syndrome

Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.


Haddad syndrome

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.


maturity-onset diabetes of the young type 11

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


undifferentiated carcinoma of stomach

A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation.


gastric choriocarcinoma

A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases.


Alagille syndrome due to a JAG1 point mutation


rectum leiomyoma

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


squamous cell carcinoma of gallbladder and extrahepatic biliary tract

Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.


pyloric antrum cancer

A malignant neoplasm involving the pyloric antrum.


megacystis-microcolon-intestinal hypoperistalsis syndrome 2


pseudomyxoma peritonei

Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.


ascending colon cancer

A malignant neoplasm involving the ascending colon.


Alagille syndrome due to a NOTCH2 point mutation


Lynch syndrome 8

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


isolated agenesis of gallbladder

A developmental defect in which the gallbladder fails to form.


anisakiasis

Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum.


bile duct disorder

A disease involving the bile duct.


chronic diarrhea with villous atrophy

Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.


soft palate cancer

A primary or metastatic malignant neoplasm that affects the soft palate.


lower gum cancer

A cancer involving a gingiva of lower jaw.


colon adenoma

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


gastrointestinal hamartoma

A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps.


ampulla of vater squamous cell carcinoma

A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.


developmental delay, epilepsy, and neonatal diabetes 1


inflammatory bowel disease 14

Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene.


anus basaloid carcinoma

An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading.


transient infantile hypertriglyceridemia and hepatosteatosis


Goldberg-Shprintzen megacolon syndrome

Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.


small intestine leiomyoma

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


cholestasis, intrahepatic, of pregnancy, 1


monogenic diabetes

Diabetes mellitus that is caused by mutations in a single gene.


liver rhabdomyosarcoma

A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver.


tonsillar lymphoma

A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas.


isolated congenital hepatic fibrosis

A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts.


achalasia

A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food.


gallbladder leiomyosarcoma

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


minor salivary gland adenoid cystic carcinoma

An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass.


colorectal cancer

A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma.


gastrointestinal mucositis

Inflammation of the mucous membranes lining the gastrointestinal tract.


chronic intestinal vascular insufficiency


anus neoplasm

A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma.


A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells.


granulomatous hepatitis

Hepatitis that is characterized by the presence of granulomas.


collagenous gastritis

A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis.


indeterminate colitis

It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy.


salivary gland epithelial myoepithelial carcinoma

A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells.


esophageal diverticulosis

A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus.


pancreatic carcinoma with mixed differentiation

A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss.


glycogen storage disease IXc

A liver PhK deficiency caused by variants in the PHKG2 gene


intestinal benign neoplasm

A benign neoplasm that involves the intestine.


jejunal neuroendocrine tumor, well differentiated, low or intermediate grade

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


hepatocellular clear cell carcinoma

A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells.


extrahepatic cholestasis

Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver.


rectum Kaposi sarcoma

A Kaposi sarcoma arising from the rectum.


undifferentiated pancreatic carcinoma with osteoclast-like giant cells

A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells.


laryngotracheoesophageal cleft type 1

Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms.


distal colitis

Particular variety of ulcerative colitis where only the left half of the colon is inflamed.


epithelial neoplasm of rectum

A epithelial neoplasm that involves the rectum.


ampulla of vater small cell neuroendocrine carcinoma

An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.


pyloric stenosis, infantile hypertrophic, 3


intestinal pseudo-obstruction

Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate.


bile duct cancer

A malignant neoplasm involving the bile duct


autosomal dominant hyperinsulinism due to SUR1 deficiency

Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism).


fungal gastritis

Gastritis resulting from fungi.


hepatic veno-occlusive disease-immunodeficiency syndrome

Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.


autoimmune enteropathy

Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.


esophageal granular cell tumor

A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003


appendix adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the vermiform appendix.


sublingual gland adenoid cystic carcinoma

A adenoid cystic carcinoma that involves the sublingual gland.


intrahepatic bile duct cystadenoma

A mucinous cystic neoplasm that arises from the intrahepatic bile ducts.


mammary analog secretory carcinoma

A salivary gland carcinoma that has material basis in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene.


alcoholic pancreatitis

Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics.


pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia

A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present.


adenomatous colon polyp

A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous.


anal Paget disease

A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO).


Crohn's colitis

Crohn's disease affecting the colon.


congenital secretory sodium diarrhea 8

Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene.


cap polyposis

Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.


A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension.


carcinoma in situ of appendix

A in situ carcinoma that involves the vermiform appendix.


esophageal tuberculosis

A tuberculosis that involves the esophagus.


spleen angiosarcoma

A malignant vascular neoplasm arising from the spleen.


extrahepatic bile duct adenoma

An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary.


diazoxide-resistant hyperinsulinism

Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism 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.


proctocolitis

Inflammation of the rectum and colon.


salivary gland small cell carcinoma

An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures.


colon serrated polyposis

The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon.


hereditary mixed polyposis syndrome

Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.


small intestinal tubulovillous adenoma

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


Crohn jejunitis

An Crohn disease involving a pathogenic inflammatory response in the jejunum.


rectum neuroendocrine neoplasm

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


large intestine disorder

A disease that involves the large intestine.


benign neoplasm of large intestine

A benign neoplasm that involves the large intestine.


growth retardation-mild developmental delay-chronic hepatitis syndrome


insulin-resistance syndrome type A

Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.


inflammatory bowel disease 23

An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1.


tonsillar fossa cancer

A cancer involving a tonsillar fossa.


goblet cell carcinoma

An aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis.


Lynch syndrome 1

Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene.


herpetic gastritis

Gastritis resulting from herpes virus.


gastric hemangioma

A hemangioma arising from the stomach.


cecum neuroendocrine tumor G1

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


colon leiomyosarcoma

An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells.


generalized juvenile polyposis/juvenile polyposis coli


NK-cell enteropathy

Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma.


Lynch syndrome 2

Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene.


congenital short bowel syndrome

Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.


inflammatory bowel disease 18

An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1.


adenoma of small intestine

A adenoma that involves the small intestine.


small bowel Crohn disease

An Crohn disease involving a pathogenic inflammatory response in the small intestine.


megacolon

An abnormal dilation of the colon not due to obstruction.


maxillary sinus adenocarcinoma

An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs.


pancreatic mucinous cystadenocarcinoma

A mucinous cystadenocarcinoma that involves the pancreas.


liver carcinoma in situ

A carcinoma in situ involving a liver.


digestive system cancer

A primary or metastatic malignant neoplasm involving any part of the digestive system.


hyperbiliverdinemia

Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.


floor of mouth mucoepidermoid carcinoma

A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth.


small intestinal L-cell glucagon-like peptide producing tumor

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


anal canal neuroendocrine neoplasm

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


colorectal neuroendocrine tumor G1

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


congenital sucrase-isomaltase deficiency with minimal starch tolerance


familial gastric type 1 neuroendocrine tumor


colorectal sessile serrated adenoma/polyp

A polyp that arises from the colon or rectum. 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 colorectal adenocarcinomas with microsatellite instability.


colorectal leiomyoma

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


enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor

A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome.


benign duodenal neoplasm

A non-metastasizing neoplasm arising from the wall of the duodenum.


gastric adenoma

A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps.


splenic manifestation of hairy cell leukemia

A hairy cell leukemia that involves the spleen.


inflammatory bowel disease 16

An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32.


maturity-onset diabetes of the young type 3

Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.


Lynch syndrome 4

Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene.


cholecystolithiasis

Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity.


cecum cancer

A malignant neoplasm involving the caecum


multisystemic smooth muscle dysfunction syndrome

Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals.


hypertrophic pyloric stenosis

An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration.


An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts.


juvenile polyposis of infancy

Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life.


maxillary sinus squamous cell carcinoma

A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.