biliary cystadenocarcinoma

description: A cystadenocarcinoma that involves the biliary tree.


name: cholestasis, progressive familial intrahepatic, 9

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


inflammatory bowel disease 12

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


inflammatory pseudotumor of the liver

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


name: adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia

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


benign neoplasm of small intestine

description: A benign neoplasm that involves the small intestine.


name: squamous cell carcinoma of the oral tongue


name: submucosal invasive colon adenocarcinoma

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


lactose intolerance adult type

description: Adult onset lactose intolerance


name: congenital sucrase-isomaltase deficiency without sucrose intolerance


name: small intestinal diffuse large B-cell lymphoma

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


intermediate DEND syndrome

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


name: Rokitansky-Aschoff sinuses of the gallbladder

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


autoimmune pancreatitis type 1

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


rectal traditional serrated adenoma

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


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

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


ascending colon neuroendocrine tumor G1

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


salivary gland adenosquamous carcinoma

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


duodenal obstruction

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


Crohn disease of the esophagus

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


childhood eosinophilic esophagitis

description: An eosinophilic esophagitis that starts in childhood.


name: metabolic dysfunction and alcohol associated liver disease

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


parotid gland cancer

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


name: biliary atresia intrahepatic non syndromic form


name: visceral neuropathy, familial, 1, autosomal recessive

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


familial visceral myopathy

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


inflammatory bowel disease 28

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


chronic gastritis

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


bile duct sarcoma

description: A sarcoma that involves the bile duct.


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


bile duct neoplasm

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


biliary tract cancer

description: A malignant neoplasm involving the biliary tree


laryngotracheoesophageal cleft

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


name: non-functional pancreatic neuroendocrine tumor

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


sigmoid colon cancer

description: A malignant neoplasm involving the sigmoid colon.


GRFoma

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


name: developmental delay, epilepsy, and neonatal diabetes 2


gastric neoplasm

description: A benign or malignant neoplasm involving the stomach.


salivary gland mucinous adenocarcinoma

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


chronic intestinal failure

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


sclerosing hepatic carcinoma

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


name: idiopathic malabsorption due to bile acid synthesis defects

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


hereditary nonpolyposis colon cancer

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


pancreas lymphoma

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


villous adenoma of colon

description: A villous adenoma that involves the colon.


hepatitis D virus infection

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


pancreatic neuroendocrine tumor

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


esophagus leiomyoma

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


intestinal neuroendocrine tumor G1

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


undetermined colitis

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


name: adenocarcinoma of gallbladder and extrahepatic biliary tract

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


name: ampullary signet ring cell adenocarcinoma

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


adenosquamous colon carcinoma

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


salivary gland adenoid cystic carcinoma

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


inflammatory bowel disease 25

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


gastric body carcinoma

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


protein-losing enteropathy

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


proctosigmoiditis

description: Inflammation of the sigmoid colon and rectum.


lower lip cancer

description: A malignant neoplasm involving the lower lip.


collagenous colitis

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


benign neoplasm of cecum

description: A benign neoplasm that involves the caecum.


occlusion of gallbladder

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


malignant tumor of minor salivary gland

description: A cancer that involves the minor salivary gland.


anal verrucous carcinoma

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


viral esophagitis

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


oral cavity mucoepidermoid carcinoma

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


focal nodular hyperplasia

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


extrahepatic bile duct sarcoma

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


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


autoimmune gastritis

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


liver leiomyoma

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


hereditary chronic pancreatitis

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


cardia cancer

description: A malignant neoplasm involving the cardia of stomach.


achlorhydria

description: Absence of hydrochloric acid in the gastric juice.


small intestine adenocarcinoma

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


hard palate cancer

description: A malignant neoplasm involving the hard palate.


congenital isolated hyperinsulinism

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


maturity-onset diabetes of the young

description: 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

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


perforation of bile duct

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


intestinal polyp

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


cheek mucosa cancer

description: A malignant neoplasm involving the buccal mucosa.


gallbladder angiosarcoma

description: An angiosarcoma that is located in the gallbladder.


small intestine neoplasm

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


benign neoplasm of stomach

description: A benign neoplasm that involves the stomach.


protozoal dysentery

description: A dysentery that involves protozoan infection.


emphysematous cholecystitis

description: Cholecystitis resulting from infection by gas producing organisms.


dumping syndrome

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


Lynch syndrome

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


benign neoplasm of pancreas

description: A benign neoplasm that involves the pancreas.


minor salivary gland carcinoma

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


islet cell adenomatosis

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


tropical sprue

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


salivary gland large cell carcinoma

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


extrahepatic biliary atresia

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


name: hyperinsulinemic hypoglycemia, familial, 2

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


tropical pancreatitis

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


carcinoma in situ of gastric body

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


esophagus carcinoma in situ

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


colon sarcoma

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


pleomorphic adenoma

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


neurogenic bowel

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


name: pancreatic triacylglycerol lipase deficiency

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


incomplete septal cirrhosis

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


name: extrahepatic bile duct mucinous adenocarcinoma

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


colon leiomyoma

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


gastric mantle cell lymphoma

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


name: congenital secretory chloride diarrhea 1

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


achalasia, familial esophageal

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


squamous cell bile duct carcinoma

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


gallbladder melanoma

description: A melanoma that arises from the gallbladder.


name: polycystic liver disease 4 with or without kidney cysts

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


collagenous sprue

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


name: salivary gland basal cell adenocarcinoma

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


esophagus leiomyosarcoma

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


anus rhabdomyosarcoma

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


levator syndrome

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


anus leiomyoma

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


meconium ileus

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


esophageal melanoma

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


name: cholestasis, progressive familial intrahepatic, 10


acquired hypertrophic pyloric stenosis

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


congenital diarrhea 6

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


gastric cardia adenocarcinoma

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


rectal neuroendocrine tumor G1

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


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


name: combined pancreatic lipase-colipase deficiency

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


primary intestinal lymphangiectasia

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


hepatic infarction

description: Prolonged ischemia to the liver resulting in necrosis.


name: squamous cell carcinoma of floor of mouth

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


name: maturity-onset diabetes of the young type 7

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


radiation proctitis

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


Chilaiditi syndrome

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


splenic flexure cancer

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


gastroesophageal cancer

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


malignant gastric germ cell tumor

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


name: early-onset familial noncirrhotic portal hypertension


name: embryonal extrahepatic bile duct rhabdomyosarcoma

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


oral Crohn disease

description: Crohn's disease affecting the mouth.


renal cysts and diabetes syndrome

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


gallbladder sarcoma

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


inflammatory bowel disease 5

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


acute hepatitis B virus infection

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


alcoholic gastritis

description: Inflammation of the stomach resulting from alcohol ingestion.


pancreatic serous cystic neoplasm

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


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


rectum malignant melanoma

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


name: congenital sucrase-isomaltase deficiency with starch intolerance


ileal neoplasm

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


small intestine lymphoma

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


rectal adenosquamous carcinoma

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


inflammatory bowel disease 1

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


name: megacystis-microcolon-intestinal hypoperistalsis syndrome 4


gastric pylorus carcinoma

description: A carcinoma that arises from the pylorus.


inflammatory bowel disease 4

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


microinvasive gastric cancer

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


inflammatory bowel disease 8

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


name: pancreatic non-functioning delta cell tumor

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


hilar cholangiocarcinoma

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


name: pyloric stenosis, infantile hypertrophic, 5


name: gallbladder signet ring cell adenocarcinoma

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


tonsillar pillar cancer

description: A cancer that involves the tonsillar pillar.


mucinous gastric adenocarcinoma

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


oral rhabdomyosarcoma

description: A rhabdomyosarcoma located in the oral cavity.


name: colon mucosa-associated lymphoid tissue lymphoma

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


taeniasis

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


drug-induced hepatitis

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


appendix lymphoma

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


hepatic tuberculosis

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


intrahepatic bile duct adenoma

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


rectosigmoid junction cancer

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


autosomal erythropoietic protoporphyria

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


malignant exocrine pancreas neoplasm

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


name: POLE-related polyposis and colorectal cancer syndrome

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


pancreatic serous cystadenocarcinoma

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


anus sarcoma

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


exercise-induced hyperinsulinism

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


duodenal somatostatinoma

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


pancreatic mucinous cystadenoma

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


neuroendocrine tumor of the anal canal

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


name: metastasis from malignant tumor of colon


postcricoid region cancer

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


name: undifferentiated embryonal sarcoma of the liver

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


benign neoplasm of oropharynx

description: A benign neoplasm that involves the oropharynx.


solitary necrotic nodule of the liver

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


gastric teratoma

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


name: cryptogenic multifocal ulcerous stenosing enteritis


name: extrahepatic bile duct clear cell adenocarcinoma

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


hyperinsulinism due to HNF1A deficiency

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


epithelial tumor of colon

description: A epithelial neoplasm that involves the colon.


name: diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency


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

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


name: inflammatory skin and bowel disease, neonatal, 2

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


gastrointestinal lymphoma

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


gastric mucosal hypertrophy

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


name: diarrheal disease secondary to altered bowel motility

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


trichohepatoenteric syndrome

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


liver hemangioma

description: A hemangioma arising from the liver.


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

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


rectal tubulovillous adenoma

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


oral tuberculosis

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


dientamoebiasis

description: Gastrointestinal infection with organisms of the genus dientamoeba.


name: gastric enterochromaffin cell serotonin-producing neuroendocrine tumor

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


inflammatory bowel disease 22

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


laryngotracheoesophageal cleft type 3

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


name: maturity-onset diabetes of the young type 8

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


hepatobiliary neoplasm

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


autoimmune hepatitis type 3

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


name: cholestasis, progressive familial intrahepatic, 12


bile reflux

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


afferent loop syndrome

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


colon neuroendocrine tumor G1

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


major salivary gland cancer

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


name: carcinoma of gallbladder and extrahepatic biliary tract

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


mature gastric teratoma

description: A benign teratoma that arises from the stomach.


trichohepatoenteric syndrome 1

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


isolated tracheo-esophageal fistula

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


gastric neuroendocrine tumor G1

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


carcinoma in situ of gastric cardia

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


neurofibroma of the esophagus

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


benign insulitis

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


gastrointestinal polyp

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


oral cavity cancer

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


gastric tubular adenocarcinoma

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


extrahepatic bile duct carcinoma

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


colon inflammatory polyp

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


jaw cancer

description: A malignant neoplasm involving the jaw skeleton


colon lymphoma

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


squamous cell carcinoma of rectum

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


name: maturity-onset diabetes of the young type 10

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


inflammatory diarrhea

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


secondary short bowel syndrome

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


angiodysplasia of intestine

description: A angiodysplasia that involves the intestine.


permanent neonatal diabetes mellitus

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


upper lip cancer

description: A malignant neoplasm involving the upper lip.


colonic neoplasm

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


retromolar area cancer

description: A malignant form of neoplasm of retromolar area.


colorectal serrated adenocarcinoma

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


granulomatous gastritis

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


hereditary coproporphyria

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


appendix neuroendocrine tumor G1

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


carcinoma of lip

description: A carcinoma that involves the lip.


colon medullary carcinoma

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


minor salivary gland adenocarcinoma

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


gall bladder carcinoma in situ

description: A carcinoma in situ involving a gall bladder.


polycystic liver disease 2

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


rectal medullary carcinoma

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


permanent neonatal diabetes mellitus 1

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


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


inflammatory bowel disease 20

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


name: TRIM22-related inflammatory bowel disease

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


duodenal villous adenoma

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


name: malignant neoplasm of cervical esophagus

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


inflammatory bowel disease 17

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


name: maxillary sinus adenoid cystic carcinoma

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


name: diabetes mellitus, transient neonatal, 2

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


cloacogenic carcinoma

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


megaesophagus

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


inherited hypertrophic pyloric stenosis

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


colorectal adenoma

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


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


pancreatic neuroendocrine tumor G1

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


Alagille syndrome

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


name: diverticulosis of bowel, hernia, and retinal detachment

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


name: cholestasis, progressive familial intrahepatic, 11


name: cholestasis, progressive familial intrahepatic, 4

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


alcoholic liver diseases

description: A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis.


pancreas sarcoma

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


bacterial esophagitis

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


benign neoplasm of esophagus

description: A benign neoplasm that involves the esophagus.


name: cholestasis, intrahepatic, of pregnancy, 3


name: carcinoma in situ of extrahepatic bile duct

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


salivary duct carcinoma

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


appendix mucinous cystadenocarcinoma

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


cavernous hemangioma of colon

description: A cavernous hemangioma arising from the colon.


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

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


congenital secretory sodium diarrhea 3

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


name: diarrheal disease secondary to increased bowel motility

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


anus adenocarcinoma

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


autoimmune pancreatitis

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


postcholecystectomy syndrome

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


perianal skin Paget disease

description: Paget disease involving the perianal skin.


parasitic intestinal disorder

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


periampullary adenoma

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


malignant gastric granular cell tumor

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


name: pyloric stenosis, infantile hypertrophic, 2


cecum adenocarcinoma

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


inflammatory bowel disease 7

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


Mirizzi syndrome

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


esophageal duplication cyst

description: 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

description: 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.


name: neonatal ichthyosis-sclerosing cholangitis syndrome

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


name: small intestinal mucosa-associated lymphoid tissue lymphoma

description: 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.


name: glycogen storage disease due to liver phosphorylase kinase deficiency

description: 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

description: 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.


name: nephropathy, progressive tubulointerstitial, with cholestatic liver disease


follicular cholangitis and pancreatitis

description: 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

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


common bile duct disorder

description: A disease involving the common bile duct.


benign neoplasm of anus

description: A benign neoplasm that involves the anus.


anal canal Paget disease

description: Paget disease involving the squamous epithelium of the anal canal.


autoimmune pancreatitis type 2

description: 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.


anal melanoma

description: 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

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


cholera

description: Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated.


name: CTNNA1-related diffuse gastric and lobular breast cancer syndrome

description: 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.


name: pancreatic ACTH-producing neuroendocrine tumor

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


SEC61B-related polycystic liver disease

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


name: benign recurrent intrahepatic cholestasis type 2


blind loop syndrome

description: 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.


name: colorectal cancer, hereditary nonpolyposis, type 6

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


oropharyngeal anthrax

description: A anthrax infection that involves the oropharynx.


Waardenburg-Shah syndrome

description: 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

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


name: maturity-onset diabetes of the young type 11

description: 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

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


gastric choriocarcinoma

description: 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.


name: Alagille syndrome due to a JAG1 point mutation


rectum leiomyoma

description: 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.


name: squamous cell carcinoma of gallbladder and extrahepatic biliary tract

description: 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

description: A malignant neoplasm involving the pyloric antrum.


name: megacystis-microcolon-intestinal hypoperistalsis syndrome 2


pseudomyxoma peritonei

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


ascending colon cancer

description: A malignant neoplasm involving the ascending colon.


name: Alagille syndrome due to a NOTCH2 point mutation


Lynch syndrome 8

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


isolated agenesis of gallbladder

description: A developmental defect in which the gallbladder fails to form.


anisakiasis

description: 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

description: A disease involving the bile duct.


chronic diarrhea with villous atrophy

description: Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency 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.


tuberculous peritonitis

description: A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia.


soft palate cancer

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


lower gum cancer

description: A cancer involving a gingiva of lower jaw.


colon adenoma

description: 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

description: 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.


name: ampulla of vater squamous cell carcinoma

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


name: developmental delay, epilepsy, and neonatal diabetes 1


inflammatory bowel disease 14

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


anus basaloid carcinoma

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


name: transient infantile hypertriglyceridemia and hepatosteatosis


Goldberg-Shprintzen syndrome

description: A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.


small intestine leiomyoma

description: 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.


name: cholestasis, intrahepatic, of pregnancy, 1


monogenic diabetes

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


liver rhabdomyosarcoma

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


tonsillar lymphoma

description: 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

description: 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.


gallbladder leiomyosarcoma

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


name: minor salivary gland adenoid cystic carcinoma

description: 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

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


gastrointestinal mucositis

description: Inflammation of the mucous membranes lining the gastrointestinal tract.


name: chronic intestinal vascular insufficiency


intrahepatic cholangiocarcinoma

description: A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.


latent autoimmune diabetes in adults

description: A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus.


anus neoplasm

description: 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.


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


tonsil cancer

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


collagenous gastritis

description: 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.


gastrojejunal ulcer

description: Evidence of an acute gastrojejunal ulcer with hemorrhage.


indeterminate colitis

description: 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.


rectum adenocarcinoma

description: An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.


name: salivary gland epithelial myoepithelial carcinoma

description: 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

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


name: pancreatic carcinoma with mixed differentiation

description: 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

description: A liver PhK deficiency caused by variants in the PHKG2 gene


intestinal benign neoplasm

description: A benign neoplasm that involves the intestine.


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

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


hepatocellular clear cell carcinoma

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


rectum Kaposi sarcoma

description: A Kaposi sarcoma arising from the rectum.


name: undifferentiated pancreatic carcinoma with osteoclast-like giant cells

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


laryngotracheoesophageal cleft type 1

description: 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

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


epithelial neoplasm of rectum

description: A epithelial neoplasm that involves the rectum.


small intestine carcinoma

description: A carcinoma that arises from epithelial cells of the small intestine


digestive system infectious disorder

description: A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system.


name: ampulla of vater small cell neuroendocrine carcinoma

description: 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.


name: pyloric stenosis, infantile hypertrophic, 3


name: autosomal dominant hyperinsulinism due to SUR1 deficiency

description: 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).


eosinophilic colitis

description: Inflammation of the colon that is characterized by eosinic infiltration.


fungal gastritis

description: Gastritis resulting from fungi.


name: hepatic veno-occlusive disease-immunodeficiency syndrome

description: 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

description: 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

description: 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

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


name: sublingual gland adenoid cystic carcinoma

description: A adenoid cystic carcinoma that involves the sublingual gland.


intrahepatic bile duct cystadenoma

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


mammary analog secretory carcinoma

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


alcoholic pancreatitis

description: 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.


name: pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia

description: 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.


chronic hepatitis C virus infection

description: Chronic form of hepatitis C infection.


adenomatous colon polyp

description: 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.


malignant tumor of nasopharynx

description: A cancer that involves the nasopharynx.


anal Paget disease

description: 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

description: Crohn's disease affecting the colon.


congenital secretory sodium diarrhea 8

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


cap polyposis

description: 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.


description: 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

description: A in situ carcinoma that involves the vermiform appendix.


esophageal tuberculosis

description: A tuberculosis that involves the esophagus.


spleen angiosarcoma

description: A malignant vascular neoplasm arising from the spleen.


extrahepatic bile duct adenoma

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


diazoxide-resistant hyperinsulinism

description: 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.


salivary gland small cell carcinoma

description: 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

description: 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

description: 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

description: 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

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


rectum neuroendocrine neoplasm

description: 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

description: A disease that involves the large intestine.


benign neoplasm of large intestine

description: A benign neoplasm that involves the large intestine.


name: growth retardation-mild developmental delay-chronic hepatitis syndrome


neonatal diabetes mellitus

description: Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.


insulin-resistance syndrome type A

description: 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

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


tonsillar fossa cancer

description: A cancer involving a tonsillar fossa.


goblet cell carcinoma

description: 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

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


herpetic gastritis

description: Gastritis resulting from herpes virus.


gastric hemangioma

description: A hemangioma arising from the stomach.


cecum neuroendocrine tumor G1

description: 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

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


name: generalized juvenile polyposis/juvenile polyposis coli


NK-cell enteropathy

description: 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

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


congenital short bowel syndrome

description: 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.


anus cancer

description: A malignant neoplasm involving the anus


inflammatory bowel disease 18

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


adenoma of small intestine

description: A adenoma that involves the small intestine.


small bowel Crohn disease

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


maxillary sinus adenocarcinoma

description: 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

description: A mucinous cystadenocarcinoma that involves the pancreas.


liver carcinoma in situ

description: A carcinoma in situ involving a liver.


digestive system cancer

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


hyperbiliverdinemia

description: 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

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


name: small intestinal L-cell glucagon-like peptide producing tumor

description: 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

description: 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

description: 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.


name: congenital sucrase-isomaltase deficiency with minimal starch tolerance


name: familial gastric type 1 neuroendocrine tumor


name: colorectal sessile serrated adenoma/polyp

description: 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

description: 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.


name: enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor

description: 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

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


gastric adenoma

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


name: splenic manifestation of hairy cell leukemia

description: A hairy cell leukemia that involves the spleen.


inflammatory bowel disease 16

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


name: maturity-onset diabetes of the young type 3

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


Lynch syndrome 4

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


cholecystolithiasis

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


cholesterolosis of gallbladder

description: A disorder characterized by a change in the gallbladder wall due to excess cholesterol.


cecum cancer

description: A malignant neoplasm involving the caecum


name: multisystemic smooth muscle dysfunction syndrome

description: 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.


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


juvenile polyposis of infancy

description: 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

description: 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.


name: progressive familial intrahepatic cholestasis type 1

description: PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.


ampulla of vater neoplasm

description: A benign or malignant neoplasm involving the ampulla of Vater.


name: colorectal diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that arises from the colon or rectum.


name: digestive system mixed adenoneuroendocrine carcinoma

description: A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made.


osmotic diarrheal disease

description: A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption.


name: pancreatic insulin-producing neuroendocrine tumor

description: An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome.


name: immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

description: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.