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

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

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


pancreatic insulinoma

description: An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.


variegate porphyria

description: Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.


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.


colonic pseudo-obstruction

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


anal melanoma

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.


anal fistula

description: A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess.


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.


intestinal obstruction

description: Blockage of the normal flow of the intestinal contents within the bowel.


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.


acute hemorrhagic pancreatitis

description: An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage.


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.


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.


granulomatous hepatitis

description: Hepatitis that is characterized by the presence of granulomas.


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.


extrahepatic cholestasis

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


hepatocellular adenoma

description: A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use.


pancreas disorder

description: A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms.


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.


salivary gland cancer

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


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


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.


portal hypertension

description: Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly.


name: pyloric stenosis, infantile hypertrophic, 3


intestinal pseudo-obstruction

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


bile duct cancer

description: A malignant neoplasm involving the bile duct


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.


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.


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.


chronic pancreatitis

description: A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus.


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.


proctocolitis

description: Inflammation of the rectum and colon.


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.


peliosis hepatis

description: A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs.


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.


megacolon

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


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.


hyperinsulinism

description: Abnormally high levels of insulin in the blood.


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.


laryngotracheoesophageal cleft type 0

description: Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course.


name: duodenal gastrin-producing neuroendocrine tumor

description: A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm.


esophagitis

description: An acute or chronic inflammatory disease affecting the esophageal wall.


colonic lymphangioma

description: A lymphangioma arising from the colon.


liver diffuse large B-cell lymphoma

description: A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver.


vestibule of mouth cancer

description: A cancer that involves the oral opening.


ulcerative proctosigmoiditis

description: Inflammation of the rectum and the distal portion of the colon.


pyriform sinus cancer

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


pylorus cancer

description: A malignant neoplasm involving the pylorus.


bile duct papillary neoplasm

description: A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts.


name: cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder


name: megacystis-microcolon-intestinal hypoperistalsis syndrome 1

description: A rare syndrome characterized by the presence of an enlarged and weak bladder (megacystis), a very small large intestine (microcolon), and weak small intestine that does not function properly (hypoperistalsis). It is caused by a disorder of the smooth muscles of the abdomen and gastrointestinal tract.


anal gland neoplasm

description: Tumors or cancer of the anal gland.


necrotizing gastritis

description: A variant of phlegmonous gastritis, typically progressing to gastric gangrene.


name: extrahepatic bile duct squamous cell carcinoma

description: A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells.


anus lymphoma

description: A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men.


anal mucinous adenocarcinoma

description: An anal adenocarcinoma characterized by the presence of mucoid stroma formation.


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

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


hemangiomas of small intestine

description: A hemangioma that involves the small intestine.


balantidiasis

description: Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer.


liver mesenchymal hamartoma

description: A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good.


PPoma

description: PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1).


campylobacteriosis

description: Infections with bacteria of the genus campylobacter.


colorectal signet ring cell carcinoma

description: An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate.


name: hyperinsulinemic hypoglycemia, familial, 4

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


name: malignant neoplasm of abdominal esophagus

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


benign digestive system neoplasm

description: A non-metastasizing neoplasm arising from any part of the digestive system.


esophagus lymphoma

description: An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.


name: diabetes mellitus, transient neonatal, 1

description: K ATP channel-associated neonatal diabetes mellitus that resolves spontaneously.


cholestasis

description: Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system.


name: malignant tumor of extrahepatic bile duct

description: A cancer that involves the extrahepatic bile duct.


bowel dysfunction

description: Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction.


gastric hamartomatous polyp

description: A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations.


tubular duplication of the esophagus

description: Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children.


pancreatic neuroendocrine neoplasm

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


name: maturity-onset diabetes of the young type 2

description: Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes.


glycogen storage disease IXa1

description: Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes.


appendix hyperplastic polyp

description: A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia.


rectum lymphoma

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


chronic liver failure

description: Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition.


name: progressive familial intrahepatic cholestasis type 2

description: Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.


dyspepsia

description: An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease.


pyloric stenosis

description: Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.


cysticercosis

description: Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs.


ischemic colitis

description: Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature.


esophageal ulcer

description: An ulcerated lesion in the esophageal wall.


name: maturity-onset diabetes of the young type 13

description: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene.


esophageal adenoid cystic carcinoma

description: An infrequent esophageal carcinoma arising from esophageal glands. (WHO)


name: fibrohistiocytic inflammatory pseudotumor of the liver

description: A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding.


gastric intestinal type adenocarcinoma

description: An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated.


name: digestive system neuroendocrine neoplasm

description: A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas).


name: intrahepatic bile duct adenosquamous carcinoma

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


jejunal neoplasm

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


bile duct cyst

description: Cystic dilatation of the hepatic duct or bile duct.


verrucous carcinoma of oral cavity

description: A verrucous carcinoma that involves the oral cavity.


name: isolated neonatal sclerosing cholangitis

description: Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.


bile duct carcinoma

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


gastric dilatation

description: Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation.


extrahepatic bile duct leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells.


alcoholic hepatitis

description: Acute hepatitis resulting from ingestion of alcohol.


lipoma of colon

description: A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction.


annular pancreas

description: Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.


hyperinsulinism due to HNF4A deficiency

description: Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1).


erythropoietic protoporphyria

description: A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.


name: pancreatic intraductal papillary-mucinous neoplasm

description: A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus.


splenic manifestation of leukemia

description: A leukemia (disease) that involves the spleen.


inflammatory bowel disease 21

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11.


gallbladder mucinous adenocarcinoma

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


ameloblastic carcinoma

description: A rare, cytologically malignant ameloblastoma that may metastasize.


name: autosomal recessive hyperinsulinism due to SUR1 deficiency


esophageal lipoma

description: A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections.


short bowel syndrome

description: Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.


aggressive insulitis

description: Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes.


bile duct carcinoma in situ

description: A carcinoma in situ involving a bile duct.


familial hyperinsulinism

description: An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome.


acute necrotizing pancreatitis

description: An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.


description: Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.


endocrine pancreas disorder

description: A disease involving the endocrine pancreas.


name: small intestinal enteropathy-associated T-cell lymphoma

description: An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate.


gastric leiomyosarcoma

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


esophageal atresia

description: A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed.


inflammatory bowel disease 9

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26.


cecal disorder

description: Pathological developments in the cecum.


diversion colitis

description: A colitis which can occur as a complication of ileostomy or colostomy.


mixed hepatoblastoma

description: A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component.


familial porphyria cutanea tarda

description: An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome.


name: cholestasis, progressive familial intrahepatic, 5

description: Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.


primitive portal vein thrombosis

description: Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system.


name: inflammatory skin and bowel disease, neonatal, 1

description: Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene.


distal biliary tract carcinoma

description: A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct.


colorectal neoplasm

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


name: maternally-inherited diabetes and deafness

description: Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.


sporadic porphyria cutanea tarda

description: An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual.


name: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young

description: Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene.


ileal neuroendocrine tumor G1

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


esophageal varices with bleeding

description: Bleeding from esophageal varices.


name: diabetes mellitus, noninsulin-dependent, 4


name: cholestasis, progressive familial intrahepatic, 8


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

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


rectum carcinoma in situ

description: A in situ carcinoma that involves the rectum.


autoimmune hepatitis type 2

description: Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies.


peritonitis

description: Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment.


esophageal adenosquamous carcinoma

description: An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components.


extrahepatic biliary papillomatosis

description: A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts.


bile duct adenocarcinoma

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


enteritis

description: Inflammation of the small intestine.


hereditary gallbladder disorder

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


name: squamous cell carcinoma of the small intestine

description: A carcinoma that arises from the small intestine. It is composed of malignant squamous cells.


name: gallbladder small cell neuroendocrine carcinoma

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


gastric linitis plastica

description: Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma.


name: visceral neuropathy, familial, 3, autosomal dominant


name: solid pseudopapillary carcinoma of pancreas

description: A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues.


name: lymphoplasmacytic inflammatory pseudotumor of the liver

description: A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding.


name: gastric small cell neuroendocrine carcinoma

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


exocrine pancreatic insufficiency

description: Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders.


diffuse gastric adenocarcinoma

description: An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration.


name: progressive familial intrahepatic cholestasis

description: Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.


name: pyloric stenosis, infantile hypertrophic, 4


Waardenburg syndrome type 4C

description: A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10.


amebic dysentery

description: Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites.


colorectal carcinoma

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


rectal villous adenoma

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


name: signet ring cell intrahepatic cholangiocarcinoma

description: An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells.


recurrent acute pancreatitis

description: Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems.


intestinal helminthiasis

description: A parasitic helminthiasis infectious disease that involves the intestine.


extrahepatic bile duct neoplasm

description: A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma.


name: diarrheal disease secondary to decreased bowel motility

description: A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion.


name: extrahepatic bile duct signet ring cell carcinoma

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


peptic esophagitis

description: Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum.


hepatic granuloma

description: A granuloma located in the liver.


suppurative cholangitis

description: Cholangitis that is characterized by pyogenic organisms.


gastric squamous cell carcinoma

description: A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body.


appendix leiomyoma

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


name: gallbladder neuroendocrine tumor, grade 1/2

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


name: liver and intrahepatic bile duct neoplasm

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


intestinal schistosomiasis

description: An intestinal infection that is caused by Schistosoma japonicum.


chronic diarrheal disease

description: Chronic form of diarrheal disease.


name: small intestine neuroendocrine tumor, well differentiated, low or intermediate grade

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


description: A carcinoma that arises from glandular epithelial cells of the esophagogastric junction.


pneumatosis cystoides intestinalis

description: The presence of gas within the wall of the large or small intestine.


giardiasis

description: An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact.


benign colon neoplasm

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


transient neonatal diabetes mellitus

description: Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.


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

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


coenurosis

description: A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs.


name: pancreatic lipomatosis duodenal stenosis


Blastocystis infectious disease

description: Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue.


name: pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma

description: A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma.


infectious colitis

description: A viral or bacterial infectious process affecting the large intestine.


spleen cancer

description: A malignant neoplasm involving the spleen


inflammatory bowel disease 13

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene.


secretory diarrhea

description: Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.


carcinoma of the ampulla of vater

description: A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.


adult hepatocellular carcinoma

description: Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.


gallbladder carcinoma

description: A carcinoma that arises from epithelial cells of the gall bladder


Budd-Chiari syndrome

description: Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.


gastric non-hodgkin lymphoma

description: An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.


name: maturity-onset diabetes of the young type 6

description: Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes.


name: chronic enteropathy associated with SLCO2A1 gene


functional colonic disease

description: Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category.


rectal cloacogenic carcinoma

description: A carcinoma that arises from the transitional zone at the junction of the rectum and anus.


name: autosomal dominant hyperinsulinism due to Kir6.2 deficiency

description: Autosomal dominant hyperinsulinism due to Kir6.2 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, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).


extrahepatic bile duct cystadenoma

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


name: chronic atrial and intestinal dysrhythmia

description: A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).


intussusception

description: Telescoping or invagination of a part of the intestine into an adjacent segment.


name: umbilical cord ulceration-intestinal atresia syndrome

description: Umbilical cord ulceration-intestinal atresia syndrome is characterized by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine hemorrhage.


fulminant viral hepatitis

description: Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV.


gastric ulcer

description: An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall.


acute hepatitis C virus infection

description: A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics.


bile duct adenoma

description: A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction.


epithelial tumor of the appendix

description: A epithelial neoplasm that involves the vermiform appendix.


DEND syndrome

description: DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.


small intestinal bacterial overgrowth

description: The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity.


acute cholecystitis

description: Acute inflammation of the gallbladder.


macrotrabecular hepatoblastoma

description: A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae.


acute liver failure

description: Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections.


colorectal squamous cell carcinoma

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


esophageal candidiasis

description: Esophagitis resulting from Candida.


name: ampulla of vater adenosquamous carcinoma

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


rectosigmoid carcinoma

description: A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area.


pediatric hepatocellular carcinoma

description: Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.


inflammatory bowel disease 24

description: An inflammatory bowel disease that has material basis in variation in the chromosome 20q13.


hepatoblastoma

description: Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy.


pancreatic adenosquamous carcinoma

description: A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma.


name: Hirschsprung disease-hearing loss-polydactyly syndrome

description: An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.


hyperinsulinism due to INSR deficiency

description: Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.


sigmoid neoplasm

description: Tumors or cancer of the sigmoid colon.


caudal duplication

description: Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.


Salmonella gastroenteritis

description: Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply.


name: mixed fibrolamellar hepatocellular carcinoma

description: A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components.


sublingual gland cancer

description: A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas.


extrahepatic bile duct rhabdomyosarcoma

description: A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts.


name: progressive familial intrahepatic cholestasis type 3

description: Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.


name: transient familial neonatal hyperbilirubinemia

description: Jaundice in an otherwise healthy breast-fed newborn. It appears four to seven days after birth, lasts longer than the physiologic jaundice, and there are no identifiable causes.


steatorrhea

description: A finding of an excessive amount of fat in the stool.


name: congenital diarrhea 7 with exudative enteropathy

description: Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.


intestinal disorder

description: A non-neoplastic or neoplastic disorder that affects the small or large intestine.


name: congenital diarrhea 5 with tufting enteropathy

description: Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.


name: appendix L-cell glucagon-like peptide-producing neuroendocrine tumor

description: A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.


oral cavity squamous cell carcinoma

description: A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status.


name: diffuse cavernous hemangioma of the rectum


tumor of duodenum

description: A neoplasm (disease) that involves the duodenum.


lip carcinoma in situ

description: A in situ carcinoma that involves the lip.


name: congenital enteropathy due to enteropeptidase deficiency

description: A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.


infantile liver failure syndrome 1

description: Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene.


name: intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked

description: Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.


small intestinal sarcoma

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


solitary rectal ulcer syndrome

description: Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum.


name: pancreatic non-invasive mucinous cystadenocarcinoma

description: A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis.


name: low phospholipid associated cholelithiasis

description: Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years.


name: gastric mucosa-associated lymphoid tissue lymphoma

description: A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy.


mucocele of appendix

description: Accumulation of mucus within the appendix.


small intestinal tubular adenoma

description: A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features.


vallecula cancer

description: A cancer involving a epiglottic vallecula.


benign neoplasm of rectum

description: A benign neoplasm that involves the rectum.


diffuse gastric cancer

description: A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining.


name: pancreatic small cell neuroendocrine carcinoma

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


rectal signet ring cell adenocarcinoma

description: An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population.


liver neuroendocrine carcinoma

description: An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver.


Satoyoshi syndrome

description: Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system.


disorder of appendix

description: A disease or disorder that involves the vermiform appendix.


lip cancer

description: A primary or metastatic malignant neoplasm involving the lip.


Caroli disease

description: Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.


pancolitis

description: Ulcerative colitis that involves the entire colon.


gastroduodenal Crohn disease

description: An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite.


pancreatic mucinous-cystic neoplasm

description: A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation.


endometriosis of intestine

description: Endometriosis that affects the intesines.


digestive system melanoma

description: A melanoma that arises from any part of the digestive system.


hepatopulmonary syndrome

description: Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases.


rectal hyperplastic polyp

description: A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps.


intestinal tuberculosis

description: A tuberculosis that involves the intestine.


name: pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma

description: A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component.


neoplasm of oropharynx

description: A neoplasm (disease) that involves the oropharynx.


name: ampulla of vater mucinous adenocarcinoma

description: A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation.


salivary gland mucoepidermoid carcinoma

description: A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.


liver cavernous hemangioma

description: A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females.


description: An intrahepatic cholangiocarcinoma that produces abundant mucin.


4-hydroxyphenylacetic aciduria

description: Increased concentration of 4-hydroxyphenylacetic acid in the urine.


small intestine disorder

description: A disease that involves the small intestine.


anal canal cancer

description: A malignant neoplasm involving the anal canal


autoimmune cholangitis

description: An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera.


squamous cell carcinoma of colon

description: A squamous cell carcinoma that involves the colon.


name: pancreatic vasoactive intestinal peptide producing tumor

description: A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome.


mandibular cancer

description: A malignant neoplasm involving the mandible


neurofibroma of gallbladder

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