small intestine neoplasm

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


benign neoplasm of stomach

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A benign neoplasm that involves the stomach.


protozoal dysentery

A dysentery that involves protozoan infection.


emphysematous cholecystitis

Cholecystitis resulting from infection by gas producing organisms.


dumping syndrome

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


Lynch syndrome

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


benign neoplasm of pancreas

A benign neoplasm that involves the pancreas.


minor salivary gland carcinoma

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


islet cell adenomatosis

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


tropical sprue

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


salivary gland large cell carcinoma

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


extrahepatic biliary atresia

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


hyperinsulinemic hypoglycemia, familial, 2

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


MSH3-related attenuated familial adenomatous polyposis


carcinoma in situ of gastric body

A in situ carcinoma that involves the body of stomach.


esophagus carcinoma in situ

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


colon sarcoma

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


pleomorphic adenoma

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


neurogenic bowel

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


pancreatic triacylglycerol lipase deficiency

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


incomplete septal cirrhosis

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


extrahepatic bile duct mucinous adenocarcinoma

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


colon leiomyoma

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


gastric mantle cell lymphoma

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


congenital secretory chloride diarrhea 1

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


achalasia, familial esophageal

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


squamous cell bile duct carcinoma

A squamous cell carcinoma that involves the bile duct.


gallbladder melanoma

A melanoma that arises from the gallbladder.


Feingold syndrome type 1

Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.


tropical pancreatitis

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


polycystic liver disease 4 with or without kidney cysts

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


collagenous sprue

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


salivary gland basal cell adenocarcinoma

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


esophagus leiomyosarcoma

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


anus rhabdomyosarcoma

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


levator syndrome

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


meconium ileus

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


esophageal melanoma

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


cholestasis, progressive familial intrahepatic, 10


acquired hypertrophic pyloric stenosis

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


congenital diarrhea 6

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


gastric cardia adenocarcinoma

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


rectal neuroendocrine tumor G1

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


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


combined pancreatic lipase-colipase deficiency

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


primary intestinal lymphangiectasia

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


hepatic infarction

Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography.


squamous cell carcinoma of floor of mouth

A squamous cell carcinoma that involves the mouth floor.


maturity-onset diabetes of the young type 7

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


radiation proctitis

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


Chilaiditi syndrome

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


splenic flexure cancer

A malignant neoplasm involving the splenic flexure of colon.


gastroesophageal cancer

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


Imerslund-Grasbeck syndrome type 2

An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF).


malignant gastric germ cell tumor

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


early-onset familial noncirrhotic portal hypertension


embryonal extrahepatic bile duct rhabdomyosarcoma

An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts.


oral Crohn disease

Crohn's disease affecting the mouth.


renal cysts and diabetes syndrome

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


gallbladder sarcoma

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


inflammatory bowel disease 5

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


acute hepatitis B virus infection

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


alcoholic gastritis

Inflammation of the stomach resulting from alcohol ingestion.


pancreatic serous cystic neoplasm

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


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


rectum malignant melanoma

An aggressive malignant melanocytic neoplasm that arises from the rectum.


congenital sucrase-isomaltase deficiency with starch intolerance


ileal neoplasm

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


small intestine lymphoma

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


rectal adenosquamous carcinoma

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


inflammatory bowel disease 1

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


megacystis-microcolon-intestinal hypoperistalsis syndrome 4


gastric pylorus carcinoma

A carcinoma that arises from the pylorus.


inflammatory bowel disease 4

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


microinvasive gastric cancer

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


anus leiomyoma

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


VACTERL/vater association

VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.


inflammatory bowel disease 8

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


pancreatic non-functioning delta cell tumor

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


hilar cholangiocarcinoma

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


pyloric stenosis, infantile hypertrophic, 5


familial adenomatous polyposis 1

Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene.


gallbladder signet ring cell adenocarcinoma

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


tonsillar pillar cancer

A cancer that involves the tonsillar pillar.


mucinous gastric adenocarcinoma

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


oral rhabdomyosarcoma

A rhabdomyosarcoma located in the oral cavity.


colon mucosa-associated lymphoid tissue lymphoma

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


taeniasis

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


drug-induced hepatitis

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


appendix lymphoma

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


hepatic tuberculosis

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


intrahepatic bile duct adenoma

A rare adenoma that arises from the intrahepatic biliary tree.


rectosigmoid junction cancer

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


autosomal erythropoietic protoporphyria

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


malignant exocrine pancreas neoplasm

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


POLE-related polyposis and colorectal cancer syndrome

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


pancreatic serous cystadenocarcinoma

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


anus sarcoma

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


exercise-induced hyperinsulinism

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


duodenal somatostatinoma

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


pancreatic mucinous cystadenoma

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


neuroendocrine tumor of the anal canal

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


metastasis from malignant tumor of colon


postcricoid region cancer

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


undifferentiated embryonal sarcoma of the liver

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


benign neoplasm of oropharynx

A benign neoplasm that involves the oropharynx.


solitary necrotic nodule of the liver

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


gastric teratoma

A mature or immature teratoma that arises from the stomach.


cryptogenic multifocal ulcerous stenosing enteritis


Imerslund-Grasbeck syndrome

Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.


extrahepatic bile duct clear cell adenocarcinoma

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


hyperinsulinism due to HNF1A deficiency

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


splenic marginal zone lymphoma

Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.


epithelial tumor of colon

A epithelial neoplasm that involves the colon.


diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency


duodenal neuroendocrine tumor, well differentiated, low or intermediate grade

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


inflammatory skin and bowel disease, neonatal, 2

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


gastrointestinal lymphoma

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


gastric mucosal hypertrophy

MC)nC)trier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.


diarrheal disease secondary to altered bowel motility

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


trichohepatoenteric syndrome

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


rectal tubulovillous adenoma

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


oral tuberculosis

Tuberculosis of the mouth, tongue, and salivary glands.


dientamoebiasis

Gastrointestinal infection with organisms of the genus dientamoeba.


gastric enterochromaffin cell serotonin-producing neuroendocrine tumor

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


Feingold syndrome

Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.


inflammatory bowel disease 22

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


laryngotracheoesophageal cleft type 3

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


liver hemangioma

A hemangioma arising from the liver.


thyroid gland mucosa-associated lymphoid tissue lymphoma

An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis.


colonic L-cell glucagon-like peptide producing tumor

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


maturity-onset diabetes of the young type 8

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


hepatobiliary neoplasm

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


autoimmune hepatitis type 3

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


cholestasis, progressive familial intrahepatic, 12


bile reflux

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


afferent loop syndrome

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


colon neuroendocrine tumor G1

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


major salivary gland cancer

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


carcinoma of gallbladder and extrahepatic biliary tract

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


mature gastric teratoma

A benign teratoma that arises from the stomach.


trichohepatoenteric syndrome 1

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


isolated tracheo-esophageal fistula

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


gastric neuroendocrine tumor G1

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


carcinoma in situ of gastric cardia

A in situ carcinoma that involves the cardia of stomach.


neurofibroma of the esophagus

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


benign insulitis

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


gastrointestinal polyp

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


oral cavity cancer

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


gastric tubular adenocarcinoma

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


extrahepatic bile duct carcinoma

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


colon inflammatory polyp

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


jaw cancer

A malignant neoplasm involving the jaw skeleton


colon lymphoma

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


maturity-onset diabetes of the young type 10

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


inflammatory diarrhea

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


secondary short bowel syndrome

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


angiodysplasia of intestine

A angiodysplasia that involves the intestine.


Plummer-Vinson syndrome

Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.


permanent neonatal diabetes mellitus

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


upper lip cancer

A malignant neoplasm involving the upper lip.


colonic neoplasm

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


retromolar area cancer

A malignant form of neoplasm of retromolar area.


colorectal serrated adenocarcinoma

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


granulomatous gastritis

Gastritis that is associated with the presence of granulomas.


hereditary coproporphyria

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


appendix neuroendocrine tumor G1

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


carcinoma of lip

A carcinoma that involves the lip.


colon medullary carcinoma

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


minor salivary gland adenocarcinoma

An adenocarcinoma that arises from the minor salivary glands.


non-syndromic esophageal malformation

A esophageal malformation that is not part of a larger syndrome.


squamous cell carcinoma of rectum

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


gall bladder carcinoma in situ

A carcinoma in situ involving a gall bladder.


polycystic liver disease 2

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


rectal medullary carcinoma

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


permanent neonatal diabetes mellitus 1

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


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


Gardner syndrome

Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.


intractable diarrhea of infancy

Intractable diarrhea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterized by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhea histologically characterized by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium.


inflammatory bowel disease 20

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


TRIM22-related inflammatory bowel disease

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


duodenal villous adenoma

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


malignant neoplasm of cervical esophagus

A cancer that involves the cervical part of esophagus.


inflammatory bowel disease 17

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


maxillary sinus adenoid cystic carcinoma

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


diabetes mellitus, transient neonatal, 2

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


cloacogenic carcinoma

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


inherited hypertrophic pyloric stenosis

An instance of hypertrophic pyloric stenosis that is inherited.


colorectal adenoma

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


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


pancreatic neuroendocrine tumor G1

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


Alagille syndrome

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


cholestasis, progressive familial intrahepatic, 11


cholestasis, progressive familial intrahepatic, 4

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


alcoholic liver diseases

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


pancreas sarcoma

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


classic or attenuated familial adenomatous polyposis

An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP.


bacterial esophagitis

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


benign neoplasm of esophagus

A benign neoplasm that involves the esophagus.


cholestasis, intrahepatic, of pregnancy, 3


splenic diffuse red pulp small B-cell lymphoma

Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism.


carcinoma in situ of extrahepatic bile duct

A in situ carcinoma that involves the extrahepatic bile duct.


salivary duct carcinoma

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


appendix mucinous cystadenocarcinoma

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


cavernous hemangioma of colon

A cavernous hemangioma arising from the colon.


ileal neuroendocrine tumor, well differentiated, low or intermediate grade

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


congenital secretory sodium diarrhea 3

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


diarrheal disease secondary to increased bowel motility

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


anus adenocarcinoma

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


autoimmune pancreatitis

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

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

Paget disease involving the perianal skin.


parasitic intestinal disorder

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


periampullary adenoma

A adenoma that involves the periampullary region of duodenum.


malignant gastric granular cell tumor

A metastasizing granular cell tumor that arises from the stomach.


pyloric stenosis, infantile hypertrophic, 2


cecum adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the caecum


inflammatory bowel disease 7

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


Mirizzi syndrome

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


esophageal duplication cyst

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


colorectal hamartoma

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


neonatal ichthyosis-sclerosing cholangitis syndrome

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


small intestinal mucosa-associated lymphoid tissue lymphoma

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


glycogen storage disease due to liver phosphorylase kinase deficiency

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


hyperinsulinism due to UCP2 deficiency

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


nephropathy, progressive tubulointerstitial, with cholestatic liver disease


follicular cholangitis and pancreatitis

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


mucoepidermoid esophageal carcinoma

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


common bile duct disorder

A disease involving the common bile duct.


congenital enteropathy involving intestinal mucosa development


benign neoplasm of anus

A benign neoplasm that involves the anus.


anal canal Paget disease

Paget disease involving the squamous epithelium of the anal canal.


autoimmune pancreatitis type 2

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


anal melanoma

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


extrahepatic bile duct lipoma

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


Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.


CTNNA1-related diffuse gastric and lobular breast cancer syndrome

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


pancreatic ACTH-producing neuroendocrine tumor

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


SEC61B-related polycystic liver disease

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


benign recurrent intrahepatic cholestasis type 2


blind loop syndrome

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


colorectal cancer, hereditary nonpolyposis, type 6

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


oropharyngeal anthrax

A anthrax infection that involves the oropharynx.


Waardenburg-Shah syndrome

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


Haddad syndrome

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


maturity-onset diabetes of the young type 11

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


undifferentiated carcinoma of stomach

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


gastric choriocarcinoma

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


Alagille syndrome due to a JAG1 point mutation


rectum leiomyoma

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


squamous cell carcinoma of gallbladder and extrahepatic biliary tract

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


pyloric antrum cancer

A malignant neoplasm involving the pyloric antrum.


megacystis-microcolon-intestinal hypoperistalsis syndrome 2


pseudomyxoma peritonei

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


ascending colon cancer

A malignant neoplasm involving the ascending colon.


Alagille syndrome due to a NOTCH2 point mutation


Lynch syndrome 8

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


isolated agenesis of gallbladder

A developmental defect in which the gallbladder fails to form.


anisakiasis

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


bile duct disorder

A disease involving the bile duct.


chronic diarrhea with villous atrophy

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


tuberculous peritonitis

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

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


lower gum cancer

A cancer involving a gingiva of lower jaw.


colon adenoma

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


gastrointestinal hamartoma

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


ampulla of vater squamous cell carcinoma

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


acrodermatitis enteropathica

Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.


developmental delay, epilepsy, and neonatal diabetes 1


inflammatory bowel disease 14

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


anus basaloid carcinoma

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


transient infantile hypertriglyceridemia and hepatosteatosis


Goldberg-Shprintzen megacolon syndrome

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


small intestine leiomyoma

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


cholestasis, intrahepatic, of pregnancy, 1


monogenic diabetes

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


liver rhabdomyosarcoma

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


tonsillar lymphoma

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


isolated congenital hepatic fibrosis

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


achalasia

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


gallbladder leiomyosarcoma

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


minor salivary gland adenoid cystic carcinoma

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


colorectal cancer

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


gastrointestinal mucositis

Inflammation of the mucous membranes lining the gastrointestinal tract.


chronic intestinal vascular insufficiency


intrahepatic cholangiocarcinoma

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

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

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


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


tonsil cancer

A primary or metastatic malignant neoplasm that affects the tonsil.


collagenous gastritis

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


indeterminate colitis

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


rectum adenocarcinoma

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.


salivary gland epithelial myoepithelial carcinoma

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


esophageal diverticulosis

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


pancreatic carcinoma with mixed differentiation

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


glycogen storage disease IXc

A liver PhK deficiency caused by variants in the PHKG2 gene


Turcot syndrome with polyposis

Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.


intestinal benign neoplasm

A benign neoplasm that involves the intestine.


jejunal neuroendocrine tumor, well differentiated, low or intermediate grade

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


hepatocellular clear cell carcinoma

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


rectum Kaposi sarcoma

A Kaposi sarcoma arising from the rectum.


undifferentiated pancreatic carcinoma with osteoclast-like giant cells

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


laryngotracheoesophageal cleft type 1

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


distal colitis

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


epithelial neoplasm of rectum

A epithelial neoplasm that involves the rectum.


small intestine carcinoma

A carcinoma that arises from epithelial cells of the small intestine


digestive system infectious disorder

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


ampulla of vater small cell neuroendocrine carcinoma

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


pyloric stenosis, infantile hypertrophic, 3


intestinal pseudo-obstruction

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


autosomal dominant hyperinsulinism due to SUR1 deficiency

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


eosinophilic colitis

Inflammation of the colon that is characterized by eosinic infiltration.


fungal gastritis

Gastritis resulting from fungi.


hepatic veno-occlusive disease-immunodeficiency syndrome

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


autoimmune enteropathy

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


esophageal granular cell tumor

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


appendix adenocarcinoma

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


sublingual gland adenoid cystic carcinoma

A adenoid cystic carcinoma that involves the sublingual gland.


intrahepatic bile duct cystadenoma

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


mammary analog secretory carcinoma

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


alcoholic pancreatitis

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


pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia

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


chronic hepatitis C virus infection

Chronic form of hepatitis C infection.


adenomatous colon polyp

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


anal Paget disease

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


Crohn's colitis

Crohn's disease affecting the colon.


congenital secretory sodium diarrhea 8

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


cap polyposis

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


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


carcinoma in situ of appendix

A in situ carcinoma that involves the vermiform appendix.


esophageal tuberculosis

A tuberculosis that involves the esophagus.


spleen angiosarcoma

A malignant vascular neoplasm arising from the spleen.


extrahepatic bile duct adenoma

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


diazoxide-resistant hyperinsulinism

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


salivary gland small cell carcinoma

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


colon serrated polyposis

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


hereditary mixed polyposis syndrome

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


small intestinal tubulovillous adenoma

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


Crohn jejunitis

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


rectum neuroendocrine neoplasm

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


large intestine disorder

A disease that involves the large intestine.


benign neoplasm of large intestine

A benign neoplasm that involves the large intestine.


growth retardation-mild developmental delay-chronic hepatitis syndrome


neonatal diabetes mellitus

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

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


inflammatory bowel disease 23

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


tonsillar fossa cancer

A cancer involving a tonsillar fossa.


goblet cell carcinoma

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


Lynch syndrome 1

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


herpetic gastritis

Gastritis resulting from herpes virus.


gastric hemangioma

A hemangioma arising from the stomach.


cecum neuroendocrine tumor G1

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


colon leiomyosarcoma

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


generalized juvenile polyposis/juvenile polyposis coli


NK-cell enteropathy

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


Lynch syndrome 2

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


congenital short bowel syndrome

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


anus cancer

A malignant neoplasm involving the anus


inflammatory bowel disease 18

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


adenoma of small intestine

A adenoma that involves the small intestine.


small bowel Crohn disease

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


maxillary sinus adenocarcinoma

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


pancreatic mucinous cystadenocarcinoma

A mucinous cystadenocarcinoma that involves the pancreas.


liver carcinoma in situ

A carcinoma in situ involving a liver.


hyperbiliverdinemia

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


floor of mouth mucoepidermoid carcinoma

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


small intestinal L-cell glucagon-like peptide producing tumor

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


colorectal neuroendocrine tumor G1

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


congenital sucrase-isomaltase deficiency with minimal starch tolerance


familial gastric type 1 neuroendocrine tumor


colorectal sessile serrated adenoma/polyp

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


colorectal leiomyoma

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


enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor

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


benign duodenal neoplasm

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


gastric adenoma

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


splenic manifestation of hairy cell leukemia

A hairy cell leukemia that involves the spleen.


inflammatory bowel disease 16

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


maturity-onset diabetes of the young type 3

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


Lynch syndrome 4

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


anal canal neuroendocrine neoplasm

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


palmoplantar keratoderma-esophageal carcinoma syndrome

An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.


cholecystolithiasis

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


cholesterolosis of gallbladder

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


cecum cancer

A malignant neoplasm involving the caecum


multisystemic smooth muscle dysfunction syndrome

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


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


juvenile polyposis of infancy

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


maxillary sinus squamous cell carcinoma

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


progressive familial intrahepatic cholestasis type 1

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

A benign or malignant neoplasm involving the ampulla of Vater.


colorectal diffuse large B-cell lymphoma

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


digestive system mixed adenoneuroendocrine carcinoma

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

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


pancreatic insulin-producing neuroendocrine tumor

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.


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

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.


non-alcoholic steatohepatitis

Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure.


laryngotracheoesophageal cleft type 0

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.


duodenal gastrin-producing neuroendocrine tumor

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.


colonic lymphangioma

A lymphangioma arising from the colon.


liver diffuse large B-cell lymphoma

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


ulcerative proctosigmoiditis

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


APC-related attenuated familial adenomatous polyposis


pyriform sinus cancer

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


pylorus cancer

A malignant neoplasm involving the pylorus.


bile duct papillary neoplasm

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


megacystis-microcolon-intestinal hypoperistalsis syndrome 1

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

Tumors or cancer of the anal gland.


necrotizing gastritis

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


extrahepatic bile duct squamous cell carcinoma

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


triple-A syndrome

Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.


anus lymphoma

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

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


L-cell glucagon-like peptide-producing neuroendocrine tumor

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

A hemangioma that involves the small intestine.


balantidiasis

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

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.


bladder hepatoid adenocarcinoma

A hepatoid adenocarcinoma that involves the urinary bladder.


PPoma

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).


vestibule of mouth cancer

A cancer that involves the oral opening.


campylobacteriosis

Infections with bacteria of the genus campylobacter.


colorectal signet ring cell carcinoma

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.


hyperinsulinemic hypoglycemia, familial, 4

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


malignant neoplasm of abdominal esophagus

A cancer that involves the abdominal part of esophagus.


esophagus lymphoma

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.


diabetes mellitus, transient neonatal, 1

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


malignant tumor of extrahepatic bile duct

A cancer that involves the extrahepatic bile duct.


eosinophilic esophagitis

Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs).


gastric hamartomatous polyp

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

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

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


maturity-onset diabetes of the young type 2

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

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

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.


cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder


cystic fibrosis-gastritis-megaloblastic anemia syndrome

A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.


rectum lymphoma

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


cysticercosis

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.


esophageal ulcer

An ulcerated lesion in the esophageal wall.


chronic atrophic gastritis

Atrophic gastritis that is persistent and long-standing.


hyperinsulinism due to HNF4A deficiency

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).


maturity-onset diabetes of the young type 13

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

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


fibrohistiocytic inflammatory pseudotumor of the liver

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

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.


digestive system neuroendocrine neoplasm

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).


intrahepatic bile duct adenosquamous carcinoma

An adenosquamous carcinoma that arises from the intrahepatic bile ducts.


jejunal neoplasm

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


bile duct cyst

Cystic dilatation of the hepatic duct or bile duct.


Bannayan-Riley-Ruvalcaba syndrome

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.


verrucous carcinoma of oral cavity

A verrucous carcinoma that involves the oral cavity.


isolated neonatal sclerosing cholangitis

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.


chronic hepatic porphyria

Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare).


classic familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.


progressive familial intrahepatic cholestasis type 2

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.


extrahepatic bile duct leiomyosarcoma

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


lipoma of colon

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.


erythropoietic protoporphyria

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.


pancreatic intraductal papillary-mucinous neoplasm

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

A leukemia (disease) that involves the spleen.


inflammatory bowel disease 21

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


gallbladder mucinous adenocarcinoma

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

A rare, cytologically malignant ameloblastoma that may metastasize.


autosomal recessive hyperinsulinism due to SUR1 deficiency


esophageal lipoma

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

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

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

A carcinoma in situ involving a bile duct.


familial hyperinsulinism

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


acute necrotizing pancreatitis

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.


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

A disease involving the endocrine pancreas.


small intestinal enteropathy-associated T-cell lymphoma

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

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


inflammatory bowel disease 9

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


cecal disorder

Pathological developments in the cecum.


diversion colitis

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


mixed hepatoblastoma

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


familial porphyria cutanea tarda

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


cholestasis, progressive familial intrahepatic, 5

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