Nephrotic Syndrome - COQ6 Associated

Nephrotic syndrome attributed to mutation(s) in the COQ6 gene.


oligomeganephronia

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

Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.


medullary sponge kidney

Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics.


Nephrotic Syndrome-Remission, Partial Remission

Nephrotic syndrome in which proteinuria has decreased by at least 50% and below the nephrotic range cutoff from disease onset, but does not normalize following a defined course of treatment.


Glomerulonephritis characterized by endocapillary proliferation and the presence of inflammatory cells affecting 50% or more of all glomeruli.


Stage 3 chronic kidney disease

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:ThingWithTaxon

A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).


Nephrotic Syndrome - Hepatitis C Virus Associated

Nephrotic syndrome associated with a hepatitis C infection.


nephrotic syndrome, type 4

Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis.


Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Segmental scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. Additionally, the Not Otherwise Specified classification excludes FSGS tip, perihilar, collapsing, and cellular variants. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


Nephrotic Syndrome - WT1 Associated

Nephrotic syndrome attributed to mutation(s) in the WT1 gene.


Nephrotic Syndrome - SCARB2 Associated

Nephrotic syndrome attributed to mutation(s) in the SCARB2 gene.


Membranous lupus nephritis

A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis


Nephrotic Syndrome with Lesion of Endothelial Glomerulonephritis

A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the endovascular lining of the glomerular capillaries. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Mesangial proliferative lupus nephritis

A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy.


Infundibular Stenosis

Narrowing of the infundibulum to the calyx, which produces an impediment to urine flow.


Collapsing glomerulopathy

Segmental or global glomerulopathy with tuft wrinkling, collapse and contraction without increased matrix or cells, but with adjacent podocyte hypertrophy and hyperplasia.


Membranous Nephropathy - NEP Induced

Membranous nephropathy due to neural endopeptidase (NEP) antibodies.


Congenital Nephrotic Syndrome - Infection Associated

Nephrotic syndrome presenting within the first three months of life, and which is associated with an infectious process.


acute proliferative glomerulonephritis

Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus.


subacute glomerulonephritis

A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis.


Type I Cryoglobulinemic Glomerulonephritis

Glomerulonephritis caused by cryoglobulins which are composed of monoclonal immunoglobulins IgG, IgA, or IgM. It occurs in patients with lymphoproliferative disorders.


immune-complex glomerulonephritis

Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function.


Membranous Nephropathy - PLA2R Induced

Membranous nephropathy due to phospholipase 2 receptor (PLA2R) antibodies.


Focal Segmental Glomerulosclerosis Tip Lesion Variant

A variant of FSGS characterized by scarring of the glomerulus adjacent to the origin of the proximal convoluted tubule; this occurs in the absence of collapsing and perihilar FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


Nephropathy induced by heavy metals

Damage to the kidney and renal tubules resulting from heavy metal exposure.


Nephrotic Syndrome - ITGB4 Associated

Nephrotic syndrome attributed to mutation(s) in the ITGB4 gene.


Focal Segmental Glomerulosclerosis Perihilar Variant

A variant of FSGS characterized by scarring of the glomerulus where at least 50% of the scars are adjacent to the hilum and must have hyalinosis; this excludes cellular, tip and collapsing FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


COVID-19-Associated Acute Kidney Injury

Acute kidney injury caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).


mTOR Inhibitor - Induced Nephropathy

Kidney damage resulting from exposure to mechanistic target of rapamycin (mTOR) kinase inhibitors.


Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis

A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction of the glomerular capillaries due to the proliferation of mesangial cells, expansion of the mesangial matrix and deposition of immune complexes causing subsequent thickening of the glomerular basement membrane. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Nephrotic Syndrome - PTPRO Associated

Nephrotic syndrome attributed to mutation(s) in the PTPRO gene.


focal embolic glomerulonephritis

Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia.


Pauci-Immune Glomerulonephritis associated with Eosinophilic Granulomatosis with Polyangiitis

Glomerulonephritis in the context of eosinophilic-rich granulomatosis with polyangiitis, eosinophilia, asthma and commonly anti-neutrophil cytoplasmic antibody.


Sickle cell nephropathy

Nephropathy secondary to sickle cell disease, characterized by the presence of sickled erythrocytes in the renal medullary vessels, renal ischemia and microinfarctions, renal papillary necrosis, and renal tubular abnormalities.


glomerulosclerosis

A hardening of the kidney glomerulus caused by scarring of the blood vessels.


Nephrotic Syndrome - Malaria Associated

Nephrotic syndrome associated with malaria.


Nephrotic Syndrome with Lesion of Segmental Hyalinosis

A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the filtering capillaries and the deposition of plasma components between the endothelium and glomerular basement membrane. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Incident Nephrotic Syndrome

New onset nephrotic syndrome.


phagosome-lysosome fusion involved in apoptotic cell clearance

biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

The creation of a phagolysosome from a phagosome and a lysosome as a part of apoptotic cell clearance.


negative regulation of asexual sporulation resulting in formation of a cellular spore

Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a cellular spore derived from the products of mitosis.


negative regulation of aplanospore formation

Any process that stops, prevents, or reduces the frequency, rate or extent of aplanospore formation, a process in which a nonmotile, asexual spore is formed within a cell in certain algae and fungi (commonly in the Phycomycetes), the wall of aplanospore is distinct from that of the parent cell.


negative regulation of aeciospore formation

Any process that stops, prevents, or reduces the frequency, rate or extent of aeciospore formation, a process in which a dikaryotic spore of typically a rust fungus is produced in an aecium.


negative regulation of uredospore formation

Any process that stops, prevents, or reduces the frequency, rate or extent of uredospore formation, a process in which an asexual, dikaryotic, often rusty-colored spore, is formed in a structure called a uredinium.


negative regulation of zoospore formation

Any process that stops, prevents, or reduces the frequency, rate or extent of zoospore formation, a process in which a diploid cell undergoes meiosis, and the meiotic products acquire specialized features of asexual motile mononucleate flagellated spores called zoospores.


negative regulation of sporangiospore formation

Any process that stops, prevents, or reduces the frequency, rate or extent of sporangiospore formation, a process in which sporangiospores, a type of asexual spore found in fungi, are formed. Sporangiospores are formed within sac-like structure, the sporangium, following the division of the cytoplasm.


negative regulation of teliospore formation

Any process that stops, prevents, or reduces the frequency, rate or extent of teliospore formation, which is the formation of a thick-walled resting or overwintering spore produced by the rust fungi (Uredinales) and smut fungi (Ustilaginales) in which karyogamy occurs.


D-glycero-D-manno-heptose 7-phosphate biosynthetic process

The chemical reactions and pathways resulting in the formation of a D-glycero-D-manno-heptose 7-phosphate.


sessile serrated polyposis cancer syndrome


squamous cell carcinoma of buccal mucosa

A squamous cell carcinoma that involves the buccal mucosa.


mucinous adenocarcinoma of the appendix

Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.


pancreatic delta cell neuroendocrine tumor

A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning).


colon Kaposi sarcoma

A Kaposi sarcoma arising from the colon.


pancreatic cystadenocarcinoma

A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes.


inflammatory bowel disease 6

An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13.


extrahepatic bile duct adenosquamous carcinoma

A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components.


polycystic liver disease 1

A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.


nodular regenerative hyperplasia of the liver

Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins.


intestinal infectious disease

An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa.


membranous obstruction of inferior vena cava


anal canal adenocarcinoma

An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding.


carcinoma of esophagus, salivary gland type


rectum adenoma

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


hepatic angiomyolipoma

An angiomyolipoma arising from the liver.


gallbladder adenosquamous carcinoma

A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components.


autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.


rectal neoplasm

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


pyloric gland adenoma

A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed.


lipoatrophic diabetes

A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism.


hereditary neuroendocrine tumor of small intestine

An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome.


fibrolamellar hepatocellular carcinoma

A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers.


intrahepatic bile duct cancer

A cancer that involves the intrahepatic bile duct.


small intestinal neuroendocrine tumor G1

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


cecal neoplasm

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


classic neuroendocrine tumor of appendix

Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.


pancreatic lymphoma, familial

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


inflammatory bowel disease 19

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


carcinoma in situ of fundus of stomach

A in situ carcinoma that involves the fundus of stomach.


diabetes mellitus, noninsulin-dependent, 5

Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene.


colon dysplasia

A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion.


intestinal cancer

A malignant neoplasm involving the intestine


congenital malabsorptive diarrhea 4

Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported.


duodenal disorder

Pathological conditions in the duodenum region of the small intestine (intestine, small).


carcinoma of stomach, salivary gland type


ampulla of vater adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla


cholestasis, progressive familial intrahepatic, 6


colorectal lipoma

A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum.


digestive system neuroendocrine tumor, grade 1/2

A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas.


bile duct cystadenoma

An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid.


ampulla of vater cancer

A primary or metastatic malignant neoplasm involving the ampulla of Vater.


duodenal adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the duodenum.


small intestine leiomyosarcoma

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


pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia

A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures.


descending colon cancer

A malignant neoplasm involving the descending colon.


gastrointestinal tuberculosis

Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area.


pancreatic acinar cell cystadenocarcinoma

A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course.


fibrotic liver disease

A liver disease characterized by the presence of excessive fibrous connective tissue in the liver.


oropharynx cancer

A primary or metastatic malignant neoplasm that affects the oropharynx.


liver leiomyosarcoma

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


gastric lymphoma

An extranodal 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.


oral cavity carcinoma in situ

A in situ carcinoma that involves the oral cavity.


hepatic flexure cancer

A malignant neoplasm involving the hepatic flexure of colon.


maturity-onset diabetes of the young type 14

Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene.


inflammatory bowel disease 10

Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene.


common bile duct neoplasm

Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi.


colorectal medullary carcinoma

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


gallbladder neuroendocrine neoplasm

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


laryngotracheoesophageal cleft type 2

Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.


maturity-onset diabetes of the young type 9

Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene.


hereditary gastric cancer

Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome.


autoimmune disorder of gastrointestinal tract

A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system.


gastric papillary adenocarcinoma

A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores.


GCGR-related hyperglucagonemia

A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.


congenital sodium diarrhea

Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.


accessory pancreas

Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.


atresia of small intestine

Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases.


uvula cancer

A malignant neoplasm involving the palatine uvula.


colorectal juvenile polyp

A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.


inflammatory bowel disease 11

An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22.


hepatoportal sclerosis

Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding.


ascending cholangitis

Acute infection of the bile ducts caused by bacteria ascending from the small intestine.


carcinoma of duodenum

A carcinoma that involves the duodenum.


malignant tumor of floor of mouth

A cancer that involves the mouth floor.


biliary tract neoplasm

A neoplasm that involves the biliary tract.


pyloric stenosis, infantile hypertrophic, 1


polyposis syndrome, hereditary mixed, 2

Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene.


abetalipoproteinemia

Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.


colon sessile serrated adenoma/polyp

A polyp that arises from the colon. 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 colonic adenocarcinomas with microsatellite instability.


anal margin carcinoma

A carcinoma that arises from epithelial cells of the perianal skin


Waldeyer's ring cancer

A malignant neoplasm involving the tonsillar ring.


ketamine-induced biliary dilatation

Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.


Lynch syndrome 5

Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene.


adenosquamous bile duct carcinoma

An adenosquamous carcinoma that arises from the bile ducts.


intestine carcinoma in situ

A carcinoma in situ involving a intestine.


malakoplakia

Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.


Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.


intrahepatic cholestasis of pregnancy

A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.


diarrhea 10, protein-losing enteropathy type


malignant neoplasm of thoracic esophagus

A cancer that involves the thoracic part of esophagus.


hyperplastic polyposis syndrome

Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.


colon small cell neuroendocrine carcinoma

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


superior mesenteric artery syndrome

Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment.


cirrhosis, familial

Cirrhosis in which no causative agent can be identified.


pericholangitis

Inflammation of the tissue surrounding the biliary ducts.


congenital enterocyte heparan sulfate deficiency

Congenital enterocyte heparan sulfate deficiency is characterized by massive enteric protein loss, secretory diarrhea, and intolerance to enteral feeds during the first few weeks of life.


gallbladder leiomyoma

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


anal polyp

A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma.


small intestine diverticulitis

A diverticulitis that involves the small intestine.


colonic disorder

Pathological processes in the colon region of the large intestine (intestine, large).


mucinous pancreas adenocarcinoma

A pancreatic adenocarcinoma that derives from epithelial cells originating in glandular tissue, which produce mucin.


periampullary adenocarcinoma

An adenocarcinoma that arises from the periampullary region.


carcinoma of liver and intrahepatic biliary tract

A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma.


calcifying nested epithelial stromal tumor of the liver

A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present.


Dieulafoy lesion

Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly.


esophageal basaloid carcinoma

A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)


hereditary folate malabsorption

Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.


chronic cholangitis

Cholangitis that is persistent and long-standing.


gastric adenosquamous carcinoma

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


appendix villous adenoma

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


polycystic liver disease 3 with or without kidney cysts

Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts.


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


gastric carcinoma

A carcinoma that arises from epithelial cells of the stomach.


diabetes mellitus, noninsulin-dependent, 3


Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion.


extrahepatic bile duct papillary adenoma

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


inflammatory bowel disease 27

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


esophageal neuroendocrine tumor

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


colorectal gastrointestinal stromal tumor

A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course.


postgastrectomy syndrome

Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies.


pancreatic cholera

A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells.


liver sarcoma

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


perinatal jaundice due to hepatocellular damage

Jaundice in perinates due to cellular damange of liver.


Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988.


eosinophilic gastritis

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


extrahepatic bile duct leiomyoma

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


liver extraskeletal osteosarcoma

An osteosarcoma arising from the liver.


hypopharynx cancer

A primary or metastatic malignant neoplasm that affects the hypopharynx.


intractable diarrhea-choanal atresia-eye anomalies syndrome

Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously.


colon Burkitt lymphoma

A rare Burkitt lymphoma that arises from the colon.


familial intrahepatic cholestasis

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


gallbladder papillary neoplasm

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


gallbladder rhabdomyosarcoma

A rhabdomyosarcoma that is located in the gallbladder.


glucose-galactose malabsorption

Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.


cecum lymphoma

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


functional pancreatic neuroendocrine tumor

A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion.


autosomal recessive hyperinsulinism due to Kir6.2 deficiency


aryepiglottic fold cancer

A malignant neoplasm involving the aryepiglottic fold.


pancreatic gastrin-producing neuroendocrine tumor

A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome.


duodenal atresia

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


extrahepatic bile duct small cell adenocarcinoma

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


colorectal tubulovillous adenoma

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


benign neoplasm of exocrine pancreas

A benign neoplasm that involves the exocrine pancreas.


gingival cancer

A primary or metastatic malignant neoplasm that affects the gums.


esophagus squamous cell papilloma

A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare.


pancreatic gastrinoma

A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption.


solid pseudopapillary neoplasm of the pancreas

A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases.


gallbladder neoplasm

A neoplasm (disease) that involves the gall bladder.


hyperinsulinism due to glucokinase deficiency

Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.


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


maturity-onset diabetes of the young type 1

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


secondary intestinal lymphangiectasia

Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions.


carcinoma in situ of cecum

A in situ carcinoma that involves the caecum.


pancreatic acinar cell carcinoma

An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis.


benign neoplasm of gallbladder

A benign neoplasm that involves the gall bladder.


colloid carcinoma of the pancreas

An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei.


papillary extrahepatic bile duct adenocarcinoma


non-neoplastic bile duct disorder

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


carcinoma of floor of mouth

A carcinoma that involves the mouth floor.


undifferentiated pancreatic carcinoma

A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells.


primary sclerosing cholangitis

Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.


A hepatocellular carcinoma that develops following exposure to aflatoxin.


ampulla of vater clear cell adenocarcinoma

A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei.


gallbladder pleomorphic giant cell adenocarcinoma


cystic fibrosis associated meconium ileus

Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis.


familial pancreatic carcinoma

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


pancreatoblastoma

Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.


eosinophilic gastroenteritis

Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.


biliary cystadenocarcinoma

A cystadenocarcinoma that involves the biliary tree.


cholestasis, progressive familial intrahepatic, 9


inflammatory bowel disease 12

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


inflammatory pseudotumor of the liver

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


adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia

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


benign neoplasm of small intestine

A benign neoplasm that involves the small intestine.


squamous cell carcinoma of the oral tongue


submucosal invasive colon adenocarcinoma

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


lactose intolerance adult type

Adult onset lactose intolerance


congenital sucrase-isomaltase deficiency without sucrose intolerance


small intestinal diffuse large B-cell lymphoma

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


intermediate DEND syndrome

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


Rokitansky-Aschoff sinuses of the gallbladder

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


autoimmune pancreatitis type 1

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


rectal traditional serrated adenoma

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


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

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


ascending colon neuroendocrine tumor G1

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


salivary gland adenosquamous carcinoma

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


duodenal obstruction

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


Crohn disease of the esophagus

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


childhood eosinophilic esophagitis

An eosinophilic esophagitis that starts in childhood.


parotid gland cancer

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


biliary atresia intrahepatic non syndromic form


visceral neuropathy, familial, 1, autosomal recessive

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


familial visceral myopathy

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


inflammatory bowel disease 28

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


chronic gastritis

Inflammation of the stomach that is chronic in nature.


bile duct sarcoma

A sarcoma that involves the bile duct.


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


bile duct neoplasm

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


biliary tract cancer

A malignant neoplasm involving the biliary tree


laryngotracheoesophageal cleft

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


non-functional pancreatic neuroendocrine tumor

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


sigmoid colon cancer

A malignant neoplasm involving the sigmoid colon.


GRFoma

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


developmental delay, epilepsy, and neonatal diabetes 2


gastric neoplasm

A benign or malignant neoplasm involving the stomach.


salivary gland mucinous adenocarcinoma

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


chronic intestinal failure

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


sclerosing hepatic carcinoma

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


idiopathic malabsorption due to bile acid synthesis defects

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


hereditary nonpolyposis colon cancer

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


pancreas lymphoma

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


villous adenoma of colon

A villous adenoma that involves the colon.


hepatitis D virus infection

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


pancreatic neuroendocrine tumor

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


esophagus leiomyoma

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


intestinal neuroendocrine tumor G1

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


undetermined colitis

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


adenocarcinoma of gallbladder and extrahepatic biliary tract

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


ampullary signet ring cell adenocarcinoma

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


adenosquamous colon carcinoma

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


salivary gland adenoid cystic carcinoma

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


inflammatory bowel disease 25

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


gastric body carcinoma

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


protein-losing enteropathy

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


proctosigmoiditis

Inflammation of the sigmoid colon and rectum.


lower lip cancer

A malignant neoplasm involving the lower lip.


collagenous colitis

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


benign neoplasm of cecum

A benign neoplasm that involves the caecum.


occlusion of gallbladder

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


malignant tumor of minor salivary gland

A cancer that involves the minor salivary gland.


anal verrucous carcinoma

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


viral esophagitis

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


oral cavity mucoepidermoid carcinoma

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


extrahepatic bile duct sarcoma

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


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


autoimmune gastritis

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


liver leiomyoma

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


hereditary chronic pancreatitis

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


cardia cancer

A malignant neoplasm involving the cardia of stomach.


achlorhydria

Absence of hydrochloric acid in the gastric juice.


small intestine adenocarcinoma

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


hard palate cancer

A malignant neoplasm involving the hard palate.


congenital isolated hyperinsulinism

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


maturity-onset diabetes of the young

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


anorectal stricture

Narrowing of the anorectum associated with inflammation or scar tissue.


perforation of bile duct

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


intestinal polyp

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


cheek mucosa cancer

A malignant neoplasm involving the buccal mucosa.


gallbladder angiosarcoma

An angiosarcoma that is located in the gallbladder.


small intestine neoplasm

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


benign neoplasm of stomach

A benign neoplasm that involves the stomach.


protozoal dysentery

A dysentery that involves protozoan infection.


emphysematous cholecystitis

Cholecystitis resulting from infection by gas producing organisms.


dumping syndrome

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


Lynch syndrome

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


benign neoplasm of pancreas

A benign neoplasm that involves the pancreas.


minor salivary gland carcinoma

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


islet cell adenomatosis

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


tropical sprue

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


salivary gland large cell carcinoma

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


extrahepatic biliary atresia

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


hyperinsulinemic hypoglycemia, familial, 2

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


tropical pancreatitis

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


carcinoma in situ of gastric body

A in situ carcinoma that involves the body of stomach.


esophagus carcinoma in situ

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


colon sarcoma

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


pleomorphic adenoma

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


neurogenic bowel

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


pancreatic triacylglycerol lipase deficiency

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


incomplete septal cirrhosis

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


extrahepatic bile duct mucinous adenocarcinoma

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


colon leiomyoma

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


gastric mantle cell lymphoma

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


congenital secretory chloride diarrhea 1

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


achalasia, familial esophageal

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


squamous cell bile duct carcinoma

A squamous cell carcinoma that involves the bile duct.


gallbladder melanoma

A melanoma that arises from the gallbladder.


polycystic liver disease 4 with or without kidney cysts

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


collagenous sprue

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


salivary gland basal cell adenocarcinoma

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


esophagus leiomyosarcoma

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


anus rhabdomyosarcoma

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


levator syndrome

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


anus leiomyoma

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


meconium ileus

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


esophageal melanoma

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


cholestasis, progressive familial intrahepatic, 10


acquired hypertrophic pyloric stenosis

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


congenital diarrhea 6

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


gastric cardia adenocarcinoma

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


rectal neuroendocrine tumor G1

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


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


combined pancreatic lipase-colipase deficiency

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


primary intestinal lymphangiectasia

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


hepatic infarction

Prolonged ischemia to the liver resulting in necrosis.


squamous cell carcinoma of floor of mouth

A squamous cell carcinoma that involves the mouth floor.


maturity-onset diabetes of the young type 7

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


radiation proctitis

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


Chilaiditi syndrome

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


splenic flexure cancer

A malignant neoplasm involving the splenic flexure of colon.


gastroesophageal cancer

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


malignant gastric germ cell tumor

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


early-onset familial noncirrhotic portal hypertension


embryonal extrahepatic bile duct rhabdomyosarcoma

An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts.


oral Crohn disease

Crohn's disease affecting the mouth.


renal cysts and diabetes syndrome

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


gallbladder sarcoma

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


inflammatory bowel disease 5

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


acute hepatitis B virus infection

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


alcoholic gastritis

Inflammation of the stomach resulting from alcohol ingestion.


pancreatic serous cystic neoplasm

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


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


rectum malignant melanoma

An aggressive malignant melanocytic neoplasm that arises from the rectum.


congenital sucrase-isomaltase deficiency with starch intolerance


ileal neoplasm

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


small intestine lymphoma

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


rectal adenosquamous carcinoma

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


inflammatory bowel disease 1

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


megacystis-microcolon-intestinal hypoperistalsis syndrome 4


gastric pylorus carcinoma

A carcinoma that arises from the pylorus.


inflammatory bowel disease 4

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


microinvasive gastric cancer

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


inflammatory bowel disease 8

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


pancreatic non-functioning delta cell tumor

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


hilar cholangiocarcinoma

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


pyloric stenosis, infantile hypertrophic, 5


gallbladder signet ring cell adenocarcinoma

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


tonsillar pillar cancer

A cancer that involves the tonsillar pillar.


mucinous gastric adenocarcinoma

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


oral rhabdomyosarcoma

A rhabdomyosarcoma located in the oral cavity.


colon mucosa-associated lymphoid tissue lymphoma

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


taeniasis

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


drug-induced hepatitis

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


appendix lymphoma

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


hepatic tuberculosis

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


intrahepatic bile duct adenoma

A rare adenoma that arises from the intrahepatic biliary tree.


rectosigmoid junction cancer

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


autosomal erythropoietic protoporphyria

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


malignant exocrine pancreas neoplasm

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


POLE-related polyposis and colorectal cancer syndrome

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


pancreatic serous cystadenocarcinoma

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


anus sarcoma

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


exercise-induced hyperinsulinism

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


duodenal somatostatinoma

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


pancreatic mucinous cystadenoma

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


neuroendocrine tumor of the anal canal

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


metastasis from malignant tumor of colon


postcricoid region cancer

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


undifferentiated embryonal sarcoma of the liver

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


benign neoplasm of oropharynx

A benign neoplasm that involves the oropharynx.


solitary necrotic nodule of the liver

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


gastric teratoma

A mature or immature teratoma that arises from the stomach.


cryptogenic multifocal ulcerous stenosing enteritis


extrahepatic bile duct clear cell adenocarcinoma

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


hyperinsulinism due to HNF1A deficiency

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


epithelial tumor of colon

A epithelial neoplasm that involves the colon.


diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency


duodenal neuroendocrine tumor, well differentiated, low or intermediate grade

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


inflammatory skin and bowel disease, neonatal, 2

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


gastrointestinal lymphoma

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


gastric mucosal hypertrophy

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


diarrheal disease secondary to altered bowel motility

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


trichohepatoenteric syndrome

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


liver hemangioma

A hemangioma arising from the liver.


colonic L-cell glucagon-like peptide producing tumor

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


rectal tubulovillous adenoma

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


oral tuberculosis

Tuberculosis of the mouth, tongue, and salivary glands.


dientamoebiasis

Gastrointestinal infection with organisms of the genus dientamoeba.


gastric enterochromaffin cell serotonin-producing neuroendocrine tumor

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


inflammatory bowel disease 22

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


laryngotracheoesophageal cleft type 3

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


maturity-onset diabetes of the young type 8

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


hepatobiliary neoplasm

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


autoimmune hepatitis type 3

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


cholestasis, progressive familial intrahepatic, 12


bile reflux

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


afferent loop syndrome

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


colon neuroendocrine tumor G1

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


major salivary gland cancer

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


carcinoma of gallbladder and extrahepatic biliary tract

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


mature gastric teratoma

A benign teratoma that arises from the stomach.


trichohepatoenteric syndrome 1

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


isolated tracheo-esophageal fistula

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


gastric neuroendocrine tumor G1

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


carcinoma in situ of gastric cardia

A in situ carcinoma that involves the cardia of stomach.


neurofibroma of the esophagus

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


benign insulitis

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


gastrointestinal polyp

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


oral cavity cancer

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


gastric tubular adenocarcinoma

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


extrahepatic bile duct carcinoma

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


colon inflammatory polyp

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


jaw cancer

A malignant neoplasm involving the jaw skeleton


colon lymphoma

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


squamous cell carcinoma of rectum

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


maturity-onset diabetes of the young type 10

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


inflammatory diarrhea

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


secondary short bowel syndrome

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


angiodysplasia of intestine

A angiodysplasia that involves the intestine.


permanent neonatal diabetes mellitus

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


upper lip cancer

A malignant neoplasm involving the upper lip.


colonic neoplasm

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


retromolar area cancer

A malignant form of neoplasm of retromolar area.


colorectal serrated adenocarcinoma

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


granulomatous gastritis

Gastritis that is associated with the presence of granulomas.


hereditary coproporphyria

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


appendix neuroendocrine tumor G1

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


carcinoma of lip

A carcinoma that involves the lip.