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

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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.


megaesophagus

An abnormal dilation of the esophagus not due to obstruction.


inherited hypertrophic pyloric stenosis

An instance of hypertrophic pyloric stenosis that is inherited.


colorectal adenoma

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


pancreatic neuroendocrine tumor G1

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


diverticulosis of bowel, hernia, and retinal detachment

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


cholestasis, progressive familial intrahepatic, 11


cholestasis, progressive familial intrahepatic, 4

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


pancreas sarcoma

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


bacterial esophagitis

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


benign neoplasm of esophagus

A benign neoplasm that involves the esophagus.


cholestasis, intrahepatic, of pregnancy, 3


carcinoma in situ of extrahepatic bile duct

A in situ carcinoma that involves the extrahepatic bile duct.


salivary duct carcinoma

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


appendix mucinous cystadenocarcinoma

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


cavernous hemangioma of colon

A cavernous hemangioma arising from the colon.


ileal neuroendocrine tumor, well differentiated, low or intermediate grade

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


congenital secretory sodium diarrhea 3

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


diarrheal disease secondary to increased bowel motility

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


anus adenocarcinoma

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


perianal skin Paget disease

Paget disease involving the perianal skin.


parasitic intestinal disorder

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


periampullary adenoma

A adenoma that involves the periampullary region of duodenum.


malignant gastric granular cell tumor

A metastasizing granular cell tumor that arises from the stomach.


pyloric stenosis, infantile hypertrophic, 2


cecum adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the caecum


inflammatory bowel disease 7

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


Mirizzi syndrome

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


esophageal duplication cyst

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


colorectal hamartoma

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


neonatal ichthyosis-sclerosing cholangitis syndrome

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


small intestinal mucosa-associated lymphoid tissue lymphoma

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


glycogen storage disease due to liver phosphorylase kinase deficiency

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


hyperinsulinism due to UCP2 deficiency

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


nephropathy, progressive tubulointerstitial, with cholestatic liver disease


follicular cholangitis and pancreatitis

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


mucoepidermoid esophageal carcinoma

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


common bile duct disorder

A disease involving the common bile duct.


benign neoplasm of anus

A benign neoplasm that involves the anus.


anal canal Paget disease

Paget disease involving the squamous epithelium of the anal canal.


autoimmune pancreatitis type 2

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


colonic pseudo-obstruction

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


anal melanoma

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


extrahepatic bile duct lipoma

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


CTNNA1-related diffuse gastric and lobular breast cancer syndrome

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


pancreatic ACTH-producing neuroendocrine tumor

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


SEC61B-related polycystic liver disease

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


benign recurrent intrahepatic cholestasis type 2


blind loop syndrome

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


colorectal cancer, hereditary nonpolyposis, type 6

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


oropharyngeal anthrax

A anthrax infection that involves the oropharynx.


Waardenburg-Shah syndrome

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


Haddad syndrome

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


maturity-onset diabetes of the young type 11

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


undifferentiated carcinoma of stomach

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


gastric choriocarcinoma

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


Alagille syndrome due to a JAG1 point mutation


rectum leiomyoma

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


squamous cell carcinoma of gallbladder and extrahepatic biliary tract

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


pyloric antrum cancer

A malignant neoplasm involving the pyloric antrum.


megacystis-microcolon-intestinal hypoperistalsis syndrome 2


pseudomyxoma peritonei

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


ascending colon cancer

A malignant neoplasm involving the ascending colon.


Alagille syndrome due to a NOTCH2 point mutation


Lynch syndrome 8

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


isolated agenesis of gallbladder

A developmental defect in which the gallbladder fails to form.


anisakiasis

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


bile duct disorder

A disease involving the bile duct.


chronic diarrhea with villous atrophy

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


soft palate cancer

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


lower gum cancer

A cancer involving a gingiva of lower jaw.


colon adenoma

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


gastrointestinal hamartoma

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


ampulla of vater squamous cell carcinoma

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


developmental delay, epilepsy, and neonatal diabetes 1


inflammatory bowel disease 14

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


anus basaloid carcinoma

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


transient infantile hypertriglyceridemia and hepatosteatosis


Goldberg-Shprintzen megacolon syndrome

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


small intestine leiomyoma

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


cholestasis, intrahepatic, of pregnancy, 1


monogenic diabetes

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


liver rhabdomyosarcoma

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


tonsillar lymphoma

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


isolated congenital hepatic fibrosis

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


gallbladder leiomyosarcoma

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


minor salivary gland adenoid cystic carcinoma

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


colorectal cancer

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


gastrointestinal mucositis

Inflammation of the mucous membranes lining the gastrointestinal tract.


chronic intestinal vascular insufficiency


anus neoplasm

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


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


granulomatous hepatitis

Hepatitis that is characterized by the presence of granulomas.


collagenous gastritis

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


gastrojejunal ulcer

Evidence of an acute gastrojejunal ulcer with hemorrhage.


indeterminate colitis

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


salivary gland epithelial myoepithelial carcinoma

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


esophageal diverticulosis

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


pancreatic carcinoma with mixed differentiation

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


glycogen storage disease IXc

A liver PhK deficiency caused by variants in the PHKG2 gene


intestinal benign neoplasm

A benign neoplasm that involves the intestine.


jejunal neuroendocrine tumor, well differentiated, low or intermediate grade

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


hepatocellular clear cell carcinoma

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


extrahepatic cholestasis

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


rectum Kaposi sarcoma

A Kaposi sarcoma arising from the rectum.


undifferentiated pancreatic carcinoma with osteoclast-like giant cells

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


laryngotracheoesophageal cleft type 1

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


distal colitis

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


epithelial neoplasm of rectum

A epithelial neoplasm that involves the rectum.


ampulla of vater small cell neuroendocrine carcinoma

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


pyloric stenosis, infantile hypertrophic, 3


bile duct cancer

A malignant neoplasm involving the bile duct


autosomal dominant hyperinsulinism due to SUR1 deficiency

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


fungal gastritis

Gastritis resulting from fungi.


hepatic veno-occlusive disease-immunodeficiency syndrome

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


autoimmune enteropathy

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


esophageal granular cell tumor

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


appendix adenocarcinoma

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


sublingual gland adenoid cystic carcinoma

A adenoid cystic carcinoma that involves the sublingual gland.


intrahepatic bile duct cystadenoma

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


mammary analog secretory carcinoma

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


alcoholic pancreatitis

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


pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia

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


adenomatous colon polyp

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


anal Paget disease

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


Crohn's colitis

Crohn's disease affecting the colon.


congenital secretory sodium diarrhea 8

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


cap polyposis

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


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


carcinoma in situ of appendix

A in situ carcinoma that involves the vermiform appendix.


esophageal tuberculosis

A tuberculosis that involves the esophagus.


spleen angiosarcoma

A malignant vascular neoplasm arising from the spleen.


extrahepatic bile duct adenoma

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


diazoxide-resistant hyperinsulinism

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


proctocolitis

Inflammation of the rectum and colon.


salivary gland small cell carcinoma

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


colon serrated polyposis

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


hereditary mixed polyposis syndrome

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


small intestinal tubulovillous adenoma

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


Crohn jejunitis

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


rectum neuroendocrine neoplasm

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


large intestine disorder

A disease that involves the large intestine.


benign neoplasm of large intestine

A benign neoplasm that involves the large intestine.


growth retardation-mild developmental delay-chronic hepatitis syndrome


insulin-resistance syndrome type A

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


inflammatory bowel disease 23

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


tonsillar fossa cancer

A cancer involving a tonsillar fossa.


goblet cell carcinoma

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


Lynch syndrome 1

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


herpetic gastritis

Gastritis resulting from herpes virus.


gastric hemangioma

A hemangioma arising from the stomach.


cecum neuroendocrine tumor G1

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


colon leiomyosarcoma

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


generalized juvenile polyposis/juvenile polyposis coli


NK-cell enteropathy

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


Lynch syndrome 2

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


congenital short bowel syndrome

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


inflammatory bowel disease 18

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


adenoma of small intestine

A adenoma that involves the small intestine.


small bowel Crohn disease

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


megacolon

An abnormal dilation of the colon not due to obstruction.


maxillary sinus adenocarcinoma

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


pancreatic mucinous cystadenocarcinoma

A mucinous cystadenocarcinoma that involves the pancreas.


liver carcinoma in situ

A carcinoma in situ involving a liver.


digestive system cancer

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


hyperbiliverdinemia

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


floor of mouth mucoepidermoid carcinoma

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


small intestinal L-cell glucagon-like peptide producing tumor

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


anal canal neuroendocrine neoplasm

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


colorectal neuroendocrine tumor G1

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


congenital sucrase-isomaltase deficiency with minimal starch tolerance


familial gastric type 1 neuroendocrine tumor


colorectal sessile serrated adenoma/polyp

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


colorectal leiomyoma

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


enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor

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


benign duodenal neoplasm

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


gastric adenoma

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


splenic manifestation of hairy cell leukemia

A hairy cell leukemia that involves the spleen.


inflammatory bowel disease 16

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


maturity-onset diabetes of the young type 3

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


Lynch syndrome 4

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


cholecystolithiasis

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


cecum cancer

A malignant neoplasm involving the caecum


multisystemic smooth muscle dysfunction syndrome

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


hypertrophic pyloric stenosis

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


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


juvenile polyposis of infancy

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


maxillary sinus squamous cell carcinoma

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


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.


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.


vestibule of mouth cancer

A cancer that involves the oral opening.


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.


cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder


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.


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.


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.


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).


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.


benign digestive system neoplasm

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


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.


bowel dysfunction

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


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.


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.


rectum lymphoma

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


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.


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.


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.


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.


gastric dilatation

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


extrahepatic bile duct leiomyosarcoma

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.


annular pancreas

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


hyperinsulinism due to HNF4A deficiency

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


erythropoietic protoporphyria

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.


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.


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.


primitive portal vein thrombosis

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


inflammatory skin and bowel disease, neonatal, 1

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


distal biliary tract carcinoma

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


colorectal neoplasm

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


maternally-inherited diabetes and deafness

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


sporadic porphyria cutanea tarda

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


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

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


ileal neuroendocrine tumor G1

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


diabetes mellitus, noninsulin-dependent, 4


cholestasis, progressive familial intrahepatic, 8


gastric neuroendocrine tumor, well differentiated, low or intermediate grade

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


rectum carcinoma in situ

A in situ carcinoma that involves the rectum.


autoimmune hepatitis type 2

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


esophageal adenosquamous carcinoma

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


extrahepatic biliary papillomatosis

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


bile duct adenocarcinoma

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


hereditary gallbladder disorder

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


squamous cell carcinoma of the small intestine

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


gallbladder small cell neuroendocrine carcinoma

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


gastric linitis plastica

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


visceral neuropathy, familial, 3, autosomal dominant


solid pseudopapillary carcinoma of pancreas

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


lymphoplasmacytic inflammatory pseudotumor of the liver

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


gastric small cell neuroendocrine carcinoma

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


diffuse gastric adenocarcinoma

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


pyloric stenosis, infantile hypertrophic, 4


Waardenburg syndrome type 4C

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


rectal villous adenoma

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


signet ring cell intrahepatic cholangiocarcinoma

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


recurrent acute pancreatitis

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


intestinal helminthiasis

A parasitic helminthiasis infectious disease that involves the intestine.


extrahepatic bile duct neoplasm

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


diarrheal disease secondary to decreased bowel motility

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


extrahepatic bile duct signet ring cell carcinoma

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


hepatic granuloma

A granuloma located in the liver.


suppurative cholangitis

Cholangitis that is characterized by pyogenic organisms.


gastric squamous cell carcinoma

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


appendix leiomyoma

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


gallbladder neuroendocrine tumor, grade 1/2

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


intestinal schistosomiasis

An intestinal infection that is caused by Schistosoma japonicum.


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

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


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


pneumatosis cystoides intestinalis

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


benign colon neoplasm

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


transient neonatal diabetes mellitus

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


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

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


coenurosis

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


pancreatic lipomatosis duodenal stenosis


Blastocystis infectious disease

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


pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma

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


infectious colitis

A viral or bacterial infectious process affecting the large intestine.


spleen cancer

A malignant neoplasm involving the spleen


inflammatory bowel disease 13

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


secretory diarrhea

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


carcinoma of the ampulla of vater

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


adult hepatocellular carcinoma

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


metabolic dysfunction-associated steatotic liver disease

Metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD) is a type of liver disease that is not caused by alcohol. It typically does not cause symptoms in the early stages, but it can cause health problems due to fat accumulation, inflammation, and scarring in the liver.


leather-bottle stomach

A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas.


gallbladder carcinoma

A carcinoma that arises from epithelial cells of the gall bladder


Budd-Chiari syndrome

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


gastric non-hodgkin lymphoma

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


maturity-onset diabetes of the young type 6

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


chronic enteropathy associated with SLCO2A1 gene


functional colonic disease

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


rectal cloacogenic carcinoma

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


autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).


extrahepatic bile duct cystadenoma

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


chronic atrial and intestinal dysrhythmia

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


umbilical cord ulceration-intestinal atresia syndrome

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


fulminant viral hepatitis

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


bile duct adenoma

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


epithelial tumor of the appendix

A epithelial neoplasm that involves the vermiform appendix.


DEND syndrome

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


small intestinal bacterial overgrowth

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


macrotrabecular hepatoblastoma

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


gallstones

Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin.


colorectal squamous cell carcinoma

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


ampulla of vater adenosquamous carcinoma

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


rectosigmoid carcinoma

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


pediatric hepatocellular carcinoma

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


inflammatory bowel disease 24

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


hepatoblastoma

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


pancreatic adenosquamous carcinoma

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


Hirschsprung disease-hearing loss-polydactyly syndrome

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


hyperinsulinism due to INSR deficiency

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


sigmoid neoplasm

Tumors or cancer of the sigmoid colon.


caudal duplication

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


mixed fibrolamellar hepatocellular carcinoma

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


sublingual gland cancer

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


extrahepatic bile duct rhabdomyosarcoma

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


progressive familial intrahepatic cholestasis type 3

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


transient familial neonatal hyperbilirubinemia

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


congenital diarrhea 7 with exudative enteropathy

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


intestinal disorder

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


congenital diarrhea 5 with tufting enteropathy

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


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

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


diffuse cavernous hemangioma of the rectum


tumor of duodenum

A neoplasm (disease) that involves the duodenum.


lip carcinoma in situ

A in situ carcinoma that involves the lip.


congenital enteropathy due to enteropeptidase deficiency

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


infantile liver failure syndrome 1

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


intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked

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


small intestinal sarcoma

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


solitary rectal ulcer syndrome

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


pancreatic non-invasive mucinous cystadenocarcinoma

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


low phospholipid associated cholelithiasis

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


gastric mucosa-associated lymphoid tissue lymphoma

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


mucocele of appendix

Accumulation of mucus within the appendix.


small intestinal tubular adenoma

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


vallecula cancer

A cancer involving a epiglottic vallecula.


benign neoplasm of rectum

A benign neoplasm that involves the rectum.


pancreatic small cell neuroendocrine carcinoma

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


rectal signet ring cell adenocarcinoma

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


liver neuroendocrine carcinoma

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


Satoyoshi syndrome

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


lip cancer

A primary or metastatic malignant neoplasm involving the lip.


Caroli disease

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


pancolitis

Ulcerative colitis that involves the entire colon.


gastroduodenal Crohn disease

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


pancreatic mucinous-cystic neoplasm

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


endometriosis of intestine

Endometriosis that affects the intesines.


digestive system melanoma

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


hepatopulmonary syndrome

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


rectal hyperplastic polyp

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


pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma

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


neoplasm of oropharynx

A neoplasm (disease) that involves the oropharynx.


ampulla of vater mucinous adenocarcinoma

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


salivary gland mucoepidermoid carcinoma

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


liver cavernous hemangioma

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


An intrahepatic cholangiocarcinoma that produces abundant mucin.


4-hydroxyphenylacetic aciduria

Increased concentration of 4-hydroxyphenylacetic acid in the urine.


small intestine disorder

A disease that involves the small intestine.


anal canal cancer

A malignant neoplasm involving the anal canal


autoimmune cholangitis

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


squamous cell carcinoma of colon

A squamous cell carcinoma that involves the colon.


pancreatic vasoactive intestinal peptide producing tumor

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


mandibular cancer

A malignant neoplasm involving the mandible


neurofibroma of gallbladder

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


pancreatic large cell neuroendocrine carcinoma

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


rectal sarcomatoid carcinoma

A biphasic rectal carcinoma with a spindle cell, sarcomatoid component.


duodenal neuroendocrine neoplasm

A neuroendocrine neoplasm that involves the duodenum.


familial colorectal cancer

Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.


septic peritonitis

Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis.


gallbladder papillary neoplasm with an associated invasive carcinoma

An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma.


appendix carcinoma

A carcinoma that arises from epithelial cells of the vermiform appendix


salivary gland carcinoma ex pleomorphic adenoma

A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.


anal margin basal cell carcinoma

A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare.


stomach diverticulosis

A pathological condition characterized by the presence of a number of gastric diverticula in the stomach.


Arroyo Garcia Cimadevilla syndrome

A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder.


small intestinal vasoactive intestinal peptide producing tumor

A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide.


splenic manifestation of prolymphocytic leukemia

A prolymphocytic leukemia that involves the spleen.


Aagenaes syndrome

Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.


liver solitary fibrous tumor

A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort.


megacystis-microcolon-intestinal hypoperistalsis syndrome 3


intraductal tubulopapillary neoplasm of pancreas


juvenile polyposis syndrome

Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.


anal margin squamous cell carcinoma

A squamous cell carcinoma arising from the perianal skin.


choledocholithiasis

Presence or formation of gallstones in the common bile duct.


thoraco-abdominal enteric duplication

Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.


gallbladder adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the gall bladder.


diabetes mellitus, noninsulin-dependent, 2


anal canal carcinoma in situ

A carcinoma in situ involving a anal canal.


colon carcinoma in situ

A in situ carcinoma that involves the colon.


salivary gland squamous cell carcinoma

A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course.


aplasia cutis congenita-intestinal lymphangiectasia syndrome

Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.


rectum sarcoma

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


colorectal adenosquamous carcinoma

An unusual colorectal 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.


undifferentiated (embryonal) sarcoma

An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells.


rectum rhabdomyosarcoma

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


hepatitis C induced liver cirrhosis

Liver injury resulting from hepatitis C infection.


Meckel diverticulum neoplasm

A neoplasm involving a Meckel's diverticulum.


gallbladder lymphoma

A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site.


diverticulitis of colon

Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation.


colorectal cancer, hereditary nonpolyposis, type 7

Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene.


seronegative autoimmune hepatitis

A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed.


gastric cardia carcinoma

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


MYO5B-related progressive familial intrahepatic cholestasis


pancreatic cystadenoma

A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas.


autosomal dominant polycystic liver disease

An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver.


congenital sucrase-isomaltase deficiency without starch intolerance


Peutz-Jeghers polyp of the stomach

A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium.


pancreatic signet ring cell adenocarcinoma

A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern.


angiodysplasia of stomach

A angiodysplasia that involves the stomach.


intrahepatic biliary papillomatosis

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


esophagus liposarcoma

A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation.


esophageal leukoplakia

A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma.


combined hepatocellular carcinoma and cholangiocarcinoma

A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor.


congenital short bowel syndrome, autosomal recessive


cecum carcinoma

A carcinoma that arises from epithelial cells of the caecum


liver lipoma

A rare benign adipose tissue neoplasm of the liver.


congenital esophageal diverticulum

Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations.


bile duct mucinous cystic neoplasm with an associated invasive carcinoma

A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component.


chronic intestinal pseudoobstruction

Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.


diabetes mellitus, noninsulin-dependent, 1


Barrett adenocarcinoma

An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002


inflammatory bowel disease 15

An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21.


trichohepatoenteric syndrome 2

Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene.


intestinal lymphangiectasia

Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies.


gallbladder adenoma

A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary.


intestinal neuroendocrine neoplasm

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


diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency


undifferentiated carcinoma of esophagus

An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation.


anal gland adenocarcinoma

An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes.


lipoma of the rectum

A benign adipose tissue neoplasm of the rectum.


Cronkhite-Canada syndrome

Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.


gallbladder lipoma

A benign adipose tissue neoplasm involving the gallbladder wall.


colon neuroendocrine neoplasm

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